Mutagenetix > Incidental Mutation

Incidental Mutation 'R7671:Ctnnal1'

592152

Institutional Source

Beutler Lab

Gene Symbol

Ctnnal1

Ensembl Gene

ENSMUSG00000038816

Gene Name

catenin (cadherin associated protein), alpha-like 1

Synonyms

Catnal1, ACRP

Accession Numbers

Genbank: NM_018761.3; Ensembl: ENSMUST00000045142, ENSMUST00000107612

Essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R7671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56810935-56865188 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56837848 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 261 (F261L)

Ref Sequence

ENSEMBL: ENSMUSP00000036487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045142] [ENSMUST00000107612]

AlphaFold

O88327

Predicted Effect

probably damaging
Transcript: ENSMUST00000045142
AA Change: F261L

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

SMART Domains

Protein: ENSMUSP00000036487
Gene: ENSMUSG00000038816
AA Change: F261L

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
Pfam:Vinculin	30	309	7e-39	PFAM
Pfam:Vinculin	302	526	1.7e-12	PFAM
Pfam:Vinculin	531	683	5.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107612

SMART Domains

Protein: ENSMUSP00000103237
Gene: ENSMUSG00000038816

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
Pfam:Vinculin	30	214	5.4e-29	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted disruption of this gene are viable and fertile and exhibit no overt phenotypes or defects in hematopoiesis and hematopoietic stem cell function. [provided by MGI curators]

Allele List at MGI

All alleles(111) : Targeted, other(2) Gene trapped(109)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,259,925	I394N	probably damaging	Het
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
4932438A13Rik	T	C	3: 36,943,231	F1146L	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,062	C191R	probably benign	Het
Akap13	C	A	7: 75,569,900	T17K	probably damaging	Het
Ankrd29	T	A	18: 12,260,986	K257I	probably damaging	Het
Bicc1	A	G	10: 70,957,167	L219P	probably benign	Het
Boc	C	T	16: 44,491,849	V617M		Het
Ccl8	A	G	11: 82,115,207		probably benign	Het
Col18a1	A	G	10: 77,085,383	L261P	unknown	Het
Col5a3	T	A	9: 20,775,086		probably null	Het
Cryba4	A	C	5: 112,248,173		probably null	Het
Csf2rb	A	G	15: 78,338,930	Y114C	probably damaging	Het
Ctif	T	C	18: 75,472,016	D484G	probably damaging	Het
Defb22	A	T	2: 152,486,030	N78K	unknown	Het
Efr3a	G	A	15: 65,837,434		probably null	Het
Elp4	G	T	2: 105,904,481	A3E	probably damaging	Het
Emilin2	A	G	17: 71,273,910	V607A	probably benign	Het
Epsti1	A	G	14: 77,904,490	Y2C	probably damaging	Het
Fam81b	A	C	13: 76,271,293	L46R	probably damaging	Het
Fam81b	G	T	13: 76,271,294	L46I	possibly damaging	Het
Fbxo15	T	A	18: 84,964,153	H288Q	probably damaging	Het
Gabrg1	T	A	5: 70,815,980	N77I	probably damaging	Het
Ganab	A	G	19: 8,912,852	Y715C	possibly damaging	Het
Hist3h2ba	T	C	11: 58,949,276	S113P	possibly damaging	Het
Iqgap2	T	C	13: 95,628,119	D1539G	probably damaging	Het
Kcp	T	C	6: 29,496,517	N633S	probably benign	Het
Krt6a	C	A	15: 101,690,543	S529I	unknown	Het
Leo1	A	G	9: 75,445,562	H129R	probably benign	Het
Lmf1	G	A	17: 25,579,349	V55M	possibly damaging	Het
Mcm9	A	G	10: 53,537,569	S472P	probably benign	Het
Med27	T	A	2: 29,377,938	V33D		Het
Mup15	C	T	4: 61,438,289	E80K	probably benign	Het
Myo18a	G	A	11: 77,859,420	R199H		Het
Nebl	T	A	2: 17,390,916	R558*	probably null	Het
Olfr1121	A	G	2: 87,372,269	T246A	probably damaging	Het
Olfr1252	A	T	2: 89,721,259	I284K	probably damaging	Het
Olfr1329	A	T	4: 118,916,986	H160Q	probably benign	Het
Olfr506	T	C	7: 108,612,991	I228T	probably damaging	Het
Olfr740	G	T	14: 50,453,885	V278L	probably benign	Het
Olfr815	T	C	10: 129,902,353	D119G	probably damaging	Het
Olfr890	A	T	9: 38,143,440	M97L	probably benign	Het
Pde11a	A	T	2: 76,215,353	F376I	possibly damaging	Het
Prima1	A	T	12: 103,235,661	C52S	probably damaging	Het
Pxn	G	A	5: 115,548,547	R366H	not run	Het
Sgce	T	C	6: 4,691,564	Y337C	probably damaging	Het
Slc25a10	T	A	11: 120,495,460	M130K	probably benign	Het
Slc29a2	A	T	19: 5,024,262	N5I	probably benign	Het
Slc35a1	A	T	4: 34,673,875	H150Q		Het
Slc5a4a	T	A	10: 76,147,550	V7D	unknown	Het
Stk17b	T	A	1: 53,766,000	D134V	probably damaging	Het
Thbs3	T	A	3: 89,216,707	S36T	probably benign	Het
Thsd4	A	G	9: 60,428,174	S152P	probably benign	Het
Tmem67	G	T	4: 12,063,698	H422N	probably benign	Het
Tram1	C	A	1: 13,589,644	V27F	probably damaging	Het
Trim14	A	G	4: 46,507,238	V326A	possibly damaging	Het

Other mutations in Ctnnal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00756:Ctnnal1	APN	4	56829544	missense	possibly damaging	0.90
IGL01404:Ctnnal1	APN	4	56829590	missense	probably damaging	1.00
IGL01523:Ctnnal1	APN	4	56835243	missense	probably damaging	1.00
IGL02413:Ctnnal1	APN	4	56835306	missense	probably benign	0.19
IGL02618:Ctnnal1	APN	4	56817060	missense	probably benign	0.07
IGL03109:Ctnnal1	APN	4	56839045	missense	probably damaging	1.00
IGL03159:Ctnnal1	APN	4	56844599	missense	probably benign	0.00
IGL03208:Ctnnal1	APN	4	56813833	missense	probably benign	0.00
IGL03250:Ctnnal1	APN	4	56812356	missense	probably benign	0.00
NA:Ctnnal1	UTSW	4	56817044	missense	probably benign	0.02
R0217:Ctnnal1	UTSW	4	56813230	missense	probably benign	0.43
R0391:Ctnnal1	UTSW	4	56847921	missense	probably damaging	1.00
R0513:Ctnnal1	UTSW	4	56835348	missense	probably benign	0.01
R0582:Ctnnal1	UTSW	4	56813228	missense	probably damaging	1.00
R1434:Ctnnal1	UTSW	4	56847971	missense	probably damaging	0.96
R1638:Ctnnal1	UTSW	4	56813856	missense	probably benign	0.06
R1760:Ctnnal1	UTSW	4	56838988	missense	probably damaging	1.00
R1871:Ctnnal1	UTSW	4	56812534	missense	probably benign	0.06
R1954:Ctnnal1	UTSW	4	56817242	splice site	probably benign
R2050:Ctnnal1	UTSW	4	56835350	missense	probably benign	0.38
R2104:Ctnnal1	UTSW	4	56812329	makesense	probably null
R3104:Ctnnal1	UTSW	4	56813246	missense	probably benign	0.11
R3106:Ctnnal1	UTSW	4	56813246	missense	probably benign	0.11
R3918:Ctnnal1	UTSW	4	56865000	missense	possibly damaging	0.89
R4705:Ctnnal1	UTSW	4	56812579	missense	probably benign	0.09
R4757:Ctnnal1	UTSW	4	56847980	missense	probably damaging	1.00
R4780:Ctnnal1	UTSW	4	56847857	missense	probably damaging	1.00
R4988:Ctnnal1	UTSW	4	56847854	nonsense	probably null
R5771:Ctnnal1	UTSW	4	56826328	missense	probably benign	0.00
R5974:Ctnnal1	UTSW	4	56817067	missense	probably damaging	1.00
R6061:Ctnnal1	UTSW	4	56812349	missense	probably benign
R6129:Ctnnal1	UTSW	4	56829573	missense	possibly damaging	0.93
R6389:Ctnnal1	UTSW	4	56813849	missense	probably benign	0.00
R7259:Ctnnal1	UTSW	4	56817299	critical splice acceptor site	probably null
R7372:Ctnnal1	UTSW	4	56826285	missense	possibly damaging	0.75
R7454:Ctnnal1	UTSW	4	56844544	missense	probably damaging	1.00
R7520:Ctnnal1	UTSW	4	56837838	missense	probably damaging	1.00
R7547:Ctnnal1	UTSW	4	56817032	missense	probably damaging	0.99
R8097:Ctnnal1	UTSW	4	56847845	missense	probably damaging	1.00
R8677:Ctnnal1	UTSW	4	56813272	missense	probably benign	0.00
R8697:Ctnnal1	UTSW	4	56838986	missense	probably damaging	0.98
R8809:Ctnnal1	UTSW	4	56835374	missense	possibly damaging	0.68
R9649:Ctnnal1	UTSW	4	56865036	missense	possibly damaging	0.95
R9739:Ctnnal1	UTSW	4	56816200	missense	probably damaging	1.00
R9790:Ctnnal1	UTSW	4	56844584	missense	possibly damaging	0.71
R9791:Ctnnal1	UTSW	4	56844584	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ATGCTCCCTTCAATGAGAAAGG -3'
(R):5'- AGATGCAACTTTACTCTCTGGTCAC -3'

Sequencing Primer
(F):5'- CTTCAATGAGAAAGGAAAACAAGCC -3'
(R):5'- CATCCTGCTTCCACACTAGTG -3'

Posted On

2019-11-12