Mutagenetix > Incidental Mutation

Incidental Mutation 'R5223:Ctnnd1'

402409

Institutional Source

Beutler Lab

Gene Symbol

Ctnnd1

Ensembl Gene

ENSMUSG00000034101

Gene Name

catenin (cadherin associated protein), delta 1

Synonyms

P120, p120-catenin, Ctnnd, Catns

MMRRC Submission

042796-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84600071-84650765 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84616789 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 371 (V371M)

Ref Sequence

ENSEMBL: ENSMUSP00000141166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036811] [ENSMUST00000066177] [ENSMUST00000067232] [ENSMUST00000099941] [ENSMUST00000111670] [ENSMUST00000111675] [ENSMUST00000111676] [ENSMUST00000111677] [ENSMUST00000111678] [ENSMUST00000111684] [ENSMUST00000111685] [ENSMUST00000111686] [ENSMUST00000111691] [ENSMUST00000111687] [ENSMUST00000111688] [ENSMUST00000111689] [ENSMUST00000111690] [ENSMUST00000111692] [ENSMUST00000111693] [ENSMUST00000111694] [ENSMUST00000111695] [ENSMUST00000111696] [ENSMUST00000111697] [ENSMUST00000111698] [ENSMUST00000189772]

AlphaFold

P30999

Predicted Effect

probably damaging
Transcript: ENSMUST00000036811
AA Change: V371M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042543
Gene: ENSMUSG00000034101
AA Change: V371M

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	651	693	9e-20	BLAST
ARM	699	739	1.23e-4	SMART
ARM	789	831	4.41e1	SMART
low complexity region	857	868	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000066177
AA Change: V371M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065252
Gene: ENSMUSG00000034101
AA Change: V371M

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	1.2e-8	SMART
ARM	440	481	1.3e-10	SMART
ARM	482	539	3e-1	SMART
ARM	541	588	1.8e-2	SMART
Blast:ARM	645	687	1e-19	BLAST
ARM	693	733	5.7e-7	SMART
ARM	783	825	2.1e-1	SMART
low complexity region	851	862	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000067232
AA Change: V371M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064518
Gene: ENSMUSG00000034101
AA Change: V371M

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	651	693	9e-20	BLAST
ARM	699	739	1.23e-4	SMART
ARM	789	831	4.41e1	SMART
low complexity region	857	868	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000099941
AA Change: V270M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097524
Gene: ENSMUSG00000034101
AA Change: V270M

Domain	Start	End	E-Value	Type
low complexity region	25	52	N/A	INTRINSIC
ARM	296	336	2.53e-6	SMART
ARM	339	380	2.8e-8	SMART
ARM	381	438	6.3e1	SMART
ARM	440	487	3.74e0	SMART
Blast:ARM	550	592	8e-20	BLAST
ARM	598	638	1.23e-4	SMART
ARM	688	730	4.41e1	SMART
low complexity region	756	767	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111670
AA Change: V270M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107299
Gene: ENSMUSG00000034101
AA Change: V270M

Domain	Start	End	E-Value	Type
low complexity region	25	52	N/A	INTRINSIC
ARM	296	336	2.53e-6	SMART
ARM	339	380	2.8e-8	SMART
ARM	381	438	6.3e1	SMART
ARM	440	487	3.74e0	SMART
Blast:ARM	544	586	9e-20	BLAST
ARM	592	632	1.23e-4	SMART
ARM	682	724	4.41e1	SMART
low complexity region	750	761	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111675
AA Change: V48M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107304
Gene: ENSMUSG00000034101
AA Change: V48M

Domain	Start	End	E-Value	Type
ARM	74	114	2.53e-6	SMART
ARM	117	158	2.8e-8	SMART
ARM	159	216	6.3e1	SMART
ARM	218	265	3.74e0	SMART
Blast:ARM	322	364	8e-20	BLAST
ARM	370	410	1.23e-4	SMART
ARM	460	502	4.41e1	SMART
low complexity region	528	539	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111676
AA Change: V270M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107305
Gene: ENSMUSG00000034101
AA Change: V270M

Domain	Start	End	E-Value	Type
low complexity region	25	52	N/A	INTRINSIC
ARM	296	336	2.53e-6	SMART
ARM	339	380	2.8e-8	SMART
ARM	381	438	6.3e1	SMART
ARM	440	487	3.74e0	SMART
Blast:ARM	544	586	1e-19	BLAST
ARM	592	632	1.23e-4	SMART
ARM	682	724	4.41e1	SMART
low complexity region	750	761	N/A	INTRINSIC
low complexity region	836	848	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111677
AA Change: V270M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107306
Gene: ENSMUSG00000034101
AA Change: V270M

Domain	Start	End	E-Value	Type
low complexity region	25	52	N/A	INTRINSIC
ARM	296	336	2.53e-6	SMART
ARM	339	380	2.8e-8	SMART
ARM	381	438	6.3e1	SMART
ARM	440	487	3.74e0	SMART
ARM	592	632	1.23e-4	SMART
ARM	682	724	4.41e1	SMART
low complexity region	750	761	N/A	INTRINSIC
low complexity region	815	827	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111678
AA Change: V270M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107307
Gene: ENSMUSG00000034101
AA Change: V270M

Domain	Start	End	E-Value	Type
low complexity region	25	52	N/A	INTRINSIC
ARM	296	336	2.53e-6	SMART
ARM	339	380	2.8e-8	SMART
ARM	381	438	6.3e1	SMART
ARM	440	487	3.74e0	SMART
Blast:ARM	550	592	9e-20	BLAST
ARM	598	638	1.23e-4	SMART
ARM	688	730	4.41e1	SMART
low complexity region	756	767	N/A	INTRINSIC
low complexity region	842	854	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111684
AA Change: V317M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107313
Gene: ENSMUSG00000034101
AA Change: V317M

Domain	Start	End	E-Value	Type
low complexity region	72	99	N/A	INTRINSIC
ARM	343	383	2.53e-6	SMART
ARM	386	427	2.8e-8	SMART
ARM	428	485	6.3e1	SMART
ARM	487	534	3.74e0	SMART
Blast:ARM	597	639	6e-20	BLAST
ARM	645	685	1.23e-4	SMART
ARM	735	777	4.41e1	SMART
low complexity region	803	814	N/A	INTRINSIC
low complexity region	889	901	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111685
AA Change: V317M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107314
Gene: ENSMUSG00000034101
AA Change: V317M

Domain	Start	End	E-Value	Type
low complexity region	72	99	N/A	INTRINSIC
ARM	343	383	2.53e-6	SMART
ARM	386	427	2.8e-8	SMART
ARM	428	485	6.3e1	SMART
ARM	487	534	3.74e0	SMART
Blast:ARM	597	639	6e-20	BLAST
ARM	645	685	1.23e-4	SMART
ARM	735	777	4.41e1	SMART
low complexity region	803	814	N/A	INTRINSIC
low complexity region	868	880	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111686
AA Change: V317M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107315
Gene: ENSMUSG00000034101
AA Change: V317M

Domain	Start	End	E-Value	Type
low complexity region	72	99	N/A	INTRINSIC
ARM	343	383	2.53e-6	SMART
ARM	386	427	2.8e-8	SMART
ARM	428	485	6.3e1	SMART
ARM	487	534	3.74e0	SMART
Blast:ARM	591	633	7e-20	BLAST
ARM	639	679	1.23e-4	SMART
ARM	729	771	4.41e1	SMART
low complexity region	797	808	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111691
AA Change: V371M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107320
Gene: ENSMUSG00000034101
AA Change: V371M

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	651	693	9e-20	BLAST
ARM	699	739	1.23e-4	SMART
ARM	789	831	4.41e1	SMART
low complexity region	857	868	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111687
AA Change: V317M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107316
Gene: ENSMUSG00000034101
AA Change: V317M

Domain	Start	End	E-Value	Type
low complexity region	72	99	N/A	INTRINSIC
ARM	343	383	2.53e-6	SMART
ARM	386	427	2.8e-8	SMART
ARM	428	485	6.3e1	SMART
ARM	487	534	3.74e0	SMART
Blast:ARM	591	633	8e-20	BLAST
ARM	639	679	1.23e-4	SMART
ARM	729	771	4.41e1	SMART
low complexity region	797	808	N/A	INTRINSIC
low complexity region	883	895	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111688
AA Change: V317M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107317
Gene: ENSMUSG00000034101
AA Change: V317M

Domain	Start	End	E-Value	Type
low complexity region	72	99	N/A	INTRINSIC
ARM	343	383	2.53e-6	SMART
ARM	386	427	2.8e-8	SMART
ARM	428	485	6.3e1	SMART
ARM	487	534	3.74e0	SMART
Blast:ARM	591	633	7e-20	BLAST
ARM	639	679	1.23e-4	SMART
ARM	729	771	4.41e1	SMART
low complexity region	797	808	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111689
AA Change: V317M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107318
Gene: ENSMUSG00000034101
AA Change: V317M

Domain	Start	End	E-Value	Type
low complexity region	72	99	N/A	INTRINSIC
ARM	343	383	2.53e-6	SMART
ARM	386	427	2.8e-8	SMART
ARM	428	485	6.3e1	SMART
ARM	487	534	3.74e0	SMART
Blast:ARM	597	639	6e-20	BLAST
ARM	645	685	1.23e-4	SMART
ARM	735	777	4.41e1	SMART
low complexity region	803	814	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111690
AA Change: V317M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107319
Gene: ENSMUSG00000034101
AA Change: V317M

Domain	Start	End	E-Value	Type
low complexity region	72	99	N/A	INTRINSIC
ARM	343	383	2.53e-6	SMART
ARM	386	427	2.8e-8	SMART
ARM	428	485	6.3e1	SMART
ARM	487	534	3.74e0	SMART
Blast:ARM	591	633	7e-20	BLAST
ARM	639	679	1.23e-4	SMART
ARM	729	771	4.41e1	SMART
low complexity region	797	808	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111692
AA Change: V371M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107321
Gene: ENSMUSG00000034101
AA Change: V371M

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	645	687	1e-19	BLAST
ARM	693	733	1.23e-4	SMART
ARM	783	825	4.41e1	SMART
low complexity region	851	862	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111693
AA Change: V371M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107322
Gene: ENSMUSG00000034101
AA Change: V371M

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	645	687	1e-19	BLAST
ARM	693	733	1.23e-4	SMART
ARM	783	825	4.41e1	SMART
low complexity region	851	862	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111694
AA Change: V371M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107323
Gene: ENSMUSG00000034101
AA Change: V371M

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	651	693	9e-20	BLAST
ARM	699	739	1.23e-4	SMART
ARM	789	831	4.41e1	SMART
low complexity region	857	868	N/A	INTRINSIC
low complexity region	943	955	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111695
AA Change: V371M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107324
Gene: ENSMUSG00000034101
AA Change: V371M

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	645	687	1e-19	BLAST
ARM	693	733	1.23e-4	SMART
ARM	783	825	4.41e1	SMART
low complexity region	851	862	N/A	INTRINSIC
low complexity region	937	949	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111696
AA Change: V371M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107325
Gene: ENSMUSG00000034101
AA Change: V371M

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	645	687	1e-19	BLAST
ARM	693	733	1.23e-4	SMART
ARM	783	825	4.41e1	SMART
low complexity region	851	862	N/A	INTRINSIC
low complexity region	916	928	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111697
AA Change: V371M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107326
Gene: ENSMUSG00000034101
AA Change: V371M

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	651	693	9e-20	BLAST
ARM	699	739	1.23e-4	SMART
ARM	789	831	4.41e1	SMART
low complexity region	857	868	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111698
AA Change: V307M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107327
Gene: ENSMUSG00000034101
AA Change: V307M

Domain	Start	End	E-Value	Type
low complexity region	62	89	N/A	INTRINSIC
ARM	333	373	2.53e-6	SMART
ARM	376	417	2.8e-8	SMART
ARM	418	475	6.3e1	SMART
ARM	477	524	3.74e0	SMART
Blast:ARM	581	623	8e-20	BLAST
ARM	629	669	1.23e-4	SMART
ARM	719	761	4.41e1	SMART
low complexity region	787	798	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145312

Predicted Effect

probably damaging
Transcript: ENSMUST00000189772
AA Change: V371M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141166
Gene: ENSMUSG00000101645
AA Change: V371M

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	651	693	9e-20	BLAST
ARM	699	739	1.23e-4	SMART
ARM	789	831	4.41e1	SMART
low complexity region	857	868	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131926

Meta Mutation Damage Score

0.7603

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruptions of this gene die shortly after birth and have morphological abnormalities of the salivary glands and lacrimal gland. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 120,013,452	V273M	possibly damaging	Het
Acin1	CCGC	CC	14: 54,642,941		probably null	Het
Acvr1b	T	A	15: 101,193,976	C46S	probably damaging	Het
Ahi1	A	T	10: 20,970,919	H416L	possibly damaging	Het
Aspm	T	A	1: 139,478,334	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 84,587,195	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 58,032,984	E502K	possibly damaging	Het
Cyp2a12	A	T	7: 27,036,463		probably null	Het
Ep400	A	G	5: 110,668,630	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,668,729		probably null	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm10093	A	G	17: 78,492,438	E286G	probably benign	Het
Gm13078	T	A	4: 143,728,021	S296R	probably benign	Het
Gpnmb	C	T	6: 49,056,205	T539M	probably benign	Het
Hspa9	A	G	18: 34,952,671		probably null	Het
Hspg2	T	C	4: 137,543,914	L2454P	probably damaging	Het
Ift140	T	A	17: 25,035,812	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,074,223	S50G	probably benign	Het
Il23r	T	A	6: 67,486,170	Y113F	probably benign	Het
Kcnt1	A	G	2: 25,903,422	D636G	probably benign	Het
Klhl41	G	A	2: 69,679,827	W569*	probably null	Het
Klra4	T	A	6: 130,062,147	D94V	probably damaging	Het
Lca5	T	A	9: 83,398,613	H378L	probably benign	Het
Lhx8	T	A	3: 154,321,644	T254S	probably damaging	Het
Lrch3	C	T	16: 32,914,397	R86W	probably damaging	Het
Lrp2	T	A	2: 69,524,053	N477I	probably damaging	Het
Man2a1	T	A	17: 64,712,271	I710K	probably benign	Het
Ncor1	A	T	11: 62,339,000	Y881N	probably damaging	Het
Nhsl1	T	A	10: 18,526,326	V1100E	probably damaging	Het
Olfr1208	T	C	2: 88,897,334	T88A	probably benign	Het
Olfr486	A	G	7: 108,172,708	V12A	probably benign	Het
Olfr855	T	C	9: 19,585,026	V163A	probably benign	Het
Oprk1	T	C	1: 5,589,296	V83A	probably benign	Het
Pacs1	C	T	19: 5,145,141	V472I	probably benign	Het
Pard3b	T	C	1: 62,344,113	Y789H	probably damaging	Het
Pcdha2	T	C	18: 36,940,791	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,380,272	N2261D	probably damaging	Het
Pex5l	A	T	3: 32,958,796	S15T	probably damaging	Het
Plekhg4	A	G	8: 105,378,949	N682S	probably benign	Het
Poc5	A	T	13: 96,402,955	M335L	probably benign	Het
Polr1a	C	T	6: 71,967,907	R1316W	possibly damaging	Het
Pp2d1	T	C	17: 53,507,845	H617R	probably benign	Het
Prpsap1	T	C	11: 116,488,148	K65E	probably benign	Het
Ptgfrn	T	C	3: 101,045,593	E775G	probably benign	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Rbbp8	C	A	18: 11,721,690	A324E	probably benign	Het
Rfx6	G	T	10: 51,677,996	G63*	probably null	Het
Rpl37a	T	C	1: 72,712,149	M47T	probably benign	Het
Samm50	T	G	15: 84,200,630	N187K	probably benign	Het
Skiv2l	A	G	17: 34,845,166		probably null	Het
Slamf9	T	C	1: 172,476,232	I48T	possibly damaging	Het
Slc2a12	A	G	10: 22,702,032	K576E	probably damaging	Het
Slc4a10	G	A	2: 62,253,366	G388S	probably damaging	Het
Smtn	G	T	11: 3,529,530	N512K	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Sspo	A	G	6: 48,478,324	Y3040C	probably damaging	Het
Stat1	T	A	1: 52,144,242	V389E	probably damaging	Het
Sult5a1	A	T	8: 123,145,422	M227K	probably damaging	Het
Thsd4	T	C	9: 60,057,042	D389G	probably damaging	Het
Tnxb	T	C	17: 34,704,078	V2545A	possibly damaging	Het
Tpo	T	A	12: 30,092,590	I712F	probably damaging	Het
Trim62	T	C	4: 128,909,411	V418A	probably damaging	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r66	T	C	7: 85,007,885	D104G	probably benign	Het
Wdr26	T	C	1: 181,187,686	I371V	probably benign	Het
Wdr78	T	A	4: 103,049,403	S738C	possibly damaging	Het
Zfp273	T	G	13: 67,826,179	C475W	probably damaging	Het
Zfp738	G	T	13: 67,673,063	T55K	probably damaging	Het
Zmym2	A	G	14: 56,946,514	I978V	probably benign	Het

Other mutations in Ctnnd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Ctnnd1	APN	2	84609625	missense	probably damaging	0.99
IGL00846:Ctnnd1	APN	2	84622010	critical splice donor site	probably null
IGL00861:Ctnnd1	APN	2	84603752	missense	probably damaging	0.97
IGL01394:Ctnnd1	APN	2	84605256	splice site	probably benign
IGL02035:Ctnnd1	APN	2	84620081	missense	probably damaging	1.00
IGL02536:Ctnnd1	APN	2	84605196	missense	probably benign	0.00
IGL02859:Ctnnd1	APN	2	84619909	splice site	probably benign
IGL03270:Ctnnd1	APN	2	84609727	splice site	probably null
IGL02802:Ctnnd1	UTSW	2	84624462	start codon destroyed	probably null	0.99
R0449:Ctnnd1	UTSW	2	84603262	missense	possibly damaging	0.53
R0487:Ctnnd1	UTSW	2	84609067	missense	probably damaging	1.00
R0652:Ctnnd1	UTSW	2	84602896	missense	probably benign	0.40
R1503:Ctnnd1	UTSW	2	84605179	splice site	probably null
R1701:Ctnnd1	UTSW	2	84608991	missense	probably damaging	1.00
R1796:Ctnnd1	UTSW	2	84615209	missense	probably damaging	1.00
R2001:Ctnnd1	UTSW	2	84620360	missense	probably benign	0.00
R2002:Ctnnd1	UTSW	2	84620360	missense	probably benign	0.00
R2185:Ctnnd1	UTSW	2	84612548	missense	probably damaging	1.00
R2192:Ctnnd1	UTSW	2	84609563	missense	probably damaging	1.00
R2203:Ctnnd1	UTSW	2	84616680	missense	probably damaging	1.00
R2389:Ctnnd1	UTSW	2	84624271	missense	probably null	0.94
R2872:Ctnnd1	UTSW	2	84620888	missense	possibly damaging	0.88
R2872:Ctnnd1	UTSW	2	84620888	missense	possibly damaging	0.88
R3846:Ctnnd1	UTSW	2	84616927	missense	probably benign	0.04
R4019:Ctnnd1	UTSW	2	84619958	missense	probably damaging	1.00
R4194:Ctnnd1	UTSW	2	84603701	missense	possibly damaging	0.93
R4796:Ctnnd1	UTSW	2	84619926	missense	probably damaging	1.00
R4847:Ctnnd1	UTSW	2	84622052	nonsense	probably null
R4964:Ctnnd1	UTSW	2	84622073	missense	possibly damaging	0.85
R4966:Ctnnd1	UTSW	2	84622073	missense	possibly damaging	0.85
R5336:Ctnnd1	UTSW	2	84616789	missense	probably damaging	1.00
R5428:Ctnnd1	UTSW	2	84616789	missense	probably damaging	1.00
R5429:Ctnnd1	UTSW	2	84616789	missense	probably damaging	1.00
R5974:Ctnnd1	UTSW	2	84620915	nonsense	probably null
R6018:Ctnnd1	UTSW	2	84650468	intron	probably benign
R6285:Ctnnd1	UTSW	2	84613887	critical splice donor site	probably null
R6562:Ctnnd1	UTSW	2	84624308	missense	probably benign
R6661:Ctnnd1	UTSW	2	84609642	missense	probably damaging	1.00
R6694:Ctnnd1	UTSW	2	84624505	start gained	probably benign
R6769:Ctnnd1	UTSW	2	84619925	missense	probably damaging	1.00
R6769:Ctnnd1	UTSW	2	84620110	missense	probably damaging	1.00
R6771:Ctnnd1	UTSW	2	84619925	missense	probably damaging	1.00
R6771:Ctnnd1	UTSW	2	84620110	missense	probably damaging	1.00
R6916:Ctnnd1	UTSW	2	84609646	missense	probably benign	0.02
R7025:Ctnnd1	UTSW	2	84610606	missense	possibly damaging	0.82
R7208:Ctnnd1	UTSW	2	84622046	missense	possibly damaging	0.48
R7466:Ctnnd1	UTSW	2	84610785	missense	probably benign	0.30
R7583:Ctnnd1	UTSW	2	84612061	missense	probably damaging	0.99
R8087:Ctnnd1	UTSW	2	84610876	missense	possibly damaging	0.65
R8458:Ctnnd1	UTSW	2	84613943	missense	probably damaging	1.00
R8723:Ctnnd1	UTSW	2	84620040	missense	probably benign	0.03
R9087:Ctnnd1	UTSW	2	84609578	missense	probably damaging	1.00
R9318:Ctnnd1	UTSW	2	84608338	missense	probably benign	0.01
R9651:Ctnnd1	UTSW	2	84609555	missense	possibly damaging	0.89
R9736:Ctnnd1	UTSW	2	84612086	missense	probably benign	0.19
X0062:Ctnnd1	UTSW	2	84615214	missense	probably damaging	1.00
Z1177:Ctnnd1	UTSW	2	84615172	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATTCTTGAGAGCTCCACAGGC -3'
(R):5'- TGTCTATGAAGCCAGATTTAACTGC -3'

Sequencing Primer
(F):5'- AGGCTCCGAGGTGCACTTC -3'
(R):5'- GAAGCCAGATTTAACTGCTTGGTTC -3'

Posted On

2016-07-22