Mutagenetix > Incidental Mutations

Incidental Mutation 'R3982:BC005561'

345305

Institutional Source

Beutler Lab

Gene Symbol

BC005561

Ensembl Gene

ENSMUSG00000079065

Gene Name

cDNA sequence BC005561

Synonyms

MMRRC Submission

041608-MU

Accession Numbers

Genbank: NM_001166581; MGI: 3040669

Is this an essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R3982 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104508352-104522611 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104521023 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1137 (V1137A)

Ref Sequence

ENSEMBL: ENSMUSP00000130629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096452]

Predicted Effect

probably benign
Transcript: ENSMUST00000096452
AA Change: V1137A

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: V1137A

Domain	Start	End	E-Value	Type
Pfam:THOC2_N	10	424	3.5e-65	PFAM
Pfam:THOC2_N	415	566	5.8e-32	PFAM
Pfam:Thoc2	568	643	8.3e-40	PFAM
low complexity region	729	747	N/A	INTRINSIC
Pfam:Tho2	873	1173	1.1e-105	PFAM
low complexity region	1251	1262	N/A	INTRINSIC
low complexity region	1266	1283	N/A	INTRINSIC
coiled coil region	1310	1335	N/A	INTRINSIC
low complexity region	1355	1366	N/A	INTRINSIC
low complexity region	1459	1482	N/A	INTRINSIC
low complexity region	1524	1543	N/A	INTRINSIC
low complexity region	1561	1569	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200034

Meta Mutation Damage Score

0.1282

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,542,369		probably null	Het
Adgrg6	T	C	10: 14,448,845	N445S	probably benign	Het
Adgrl3	A	G	5: 81,694,526	T902A	possibly damaging	Het
Atf4	T	C	15: 80,256,868	V153A	probably benign	Het
Bsn	T	C	9: 108,107,166	T3230A	unknown	Het
Cadps2	A	G	6: 23,263,531		probably benign	Het
Clca3a1	T	A	3: 144,755,309	T194S	probably benign	Het
Cth	A	T	3: 157,913,697	L163*	probably null	Het
Flnc	G	A	6: 29,442,941	V492M	probably damaging	Het
Frmd6	T	C	12: 70,887,834	L269P	probably damaging	Het
Gpr62	G	A	9: 106,464,886	A281V	probably benign	Het
Hapln1	T	A	13: 89,605,441	F242Y	probably benign	Het
Ighv1-39	A	T	12: 114,914,631	S107T	possibly damaging	Het
Itga8	A	G	2: 12,300,963	V72A	possibly damaging	Het
Kcp	A	T	6: 29,484,637	L1314Q	probably damaging	Het
Klre1	T	A	6: 129,583,138	C124*	probably null	Het
Lrrk2	T	A	15: 91,709,284	M482K	probably benign	Het
Man2b2	T	C	5: 36,813,820	N734S	probably benign	Het
Map3k20	C	T	2: 72,438,227	T526I	probably damaging	Het
Mdga1	C	A	17: 29,931,264	A125S	unknown	Het
Mmd2	T	C	5: 142,564,799	Y228C	probably damaging	Het
Mme	T	A	3: 63,328,064	Y178N	probably damaging	Het
Nifk	T	A	1: 118,329,552	S138R	possibly damaging	Het
Nlrp4b	T	C	7: 10,714,431	V187A	possibly damaging	Het
Palmd	T	C	3: 116,923,823	T342A	probably benign	Het
Pigo	A	T	4: 43,023,482	S231T	probably benign	Het
Pik3cb	G	A	9: 99,046,601	T867M	probably benign	Het
Plag1	A	T	4: 3,904,055	S379T	probably damaging	Het
Polg2	G	A	11: 106,779,202	R81*	probably null	Het
Prpf4b	C	T	13: 34,884,213		probably benign	Het
Ptprq	T	A	10: 107,543,396	I1981F	probably damaging	Het
Usp24	G	A	4: 106,387,883	E1307K	probably benign	Het
Vmn2r115	T	A	17: 23,359,974	M807K	probably damaging	Het
Wee2	A	T	6: 40,455,241	N248I	possibly damaging	Het

Other mutations in BC005561

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:BC005561	APN	5	104520500	missense	probably damaging	1.00
IGL01024:BC005561	APN	5	104521746	missense	probably benign	0.02
IGL01133:BC005561	APN	5	104517662	missense	probably benign
IGL01564:BC005561	APN	5	104520663	missense	probably benign	0.12
IGL01727:BC005561	APN	5	104519513	missense	probably benign	0.01
IGL02086:BC005561	APN	5	104519001	missense	possibly damaging	0.49
IGL02153:BC005561	APN	5	104521083	missense	probably benign	0.02
IGL02256:BC005561	APN	5	104520283	nonsense	probably null
IGL02436:BC005561	APN	5	104521155	missense	probably benign	0.10
IGL02969:BC005561	APN	5	104519343	missense	probably benign	0.01
IGL03275:BC005561	APN	5	104518277	missense	probably benign	0.00
IGL03357:BC005561	APN	5	104520468	missense	probably damaging	1.00
F2404:BC005561	UTSW	5	104520230	missense	possibly damaging	0.83
R0318:BC005561	UTSW	5	104517753	missense	probably benign	0.00
R0349:BC005561	UTSW	5	104519976	missense	possibly damaging	0.85
R0454:BC005561	UTSW	5	104518211	missense	probably benign	0.45
R0742:BC005561	UTSW	5	104522154	missense	probably benign	0.00
R0842:BC005561	UTSW	5	104519200	missense	possibly damaging	0.81
R0882:BC005561	UTSW	5	104519009	missense	probably benign	0.05
R1123:BC005561	UTSW	5	104518470	missense	probably damaging	1.00
R1171:BC005561	UTSW	5	104520903	missense	possibly damaging	0.49
R1205:BC005561	UTSW	5	104520213	missense	probably benign	0.28
R1261:BC005561	UTSW	5	104520635	missense	probably damaging	0.98
R1432:BC005561	UTSW	5	104518104	missense	probably damaging	1.00
R1447:BC005561	UTSW	5	104522204	missense	possibly damaging	0.89
R1466:BC005561	UTSW	5	104518257	missense	probably damaging	0.99
R1466:BC005561	UTSW	5	104518257	missense	probably damaging	0.99
R1584:BC005561	UTSW	5	104518257	missense	probably damaging	0.99
R1636:BC005561	UTSW	5	104520750	missense	probably damaging	0.99
R1686:BC005561	UTSW	5	104519923	nonsense	probably null
R1698:BC005561	UTSW	5	104520510	missense	probably benign	0.09
R1816:BC005561	UTSW	5	104517834	missense	probably benign	0.16
R1903:BC005561	UTSW	5	104518330	missense	probably benign	0.00
R2096:BC005561	UTSW	5	104519969	missense	possibly damaging	0.95
R2146:BC005561	UTSW	5	104518991	missense	probably benign
R2226:BC005561	UTSW	5	104519420	missense	probably damaging	1.00
R2227:BC005561	UTSW	5	104519420	missense	probably damaging	1.00
R2383:BC005561	UTSW	5	104518988	missense	probably benign	0.23
R2656:BC005561	UTSW	5	104519315	missense	probably benign	0.05
R3983:BC005561	UTSW	5	104521023	missense	probably benign	0.29
R4115:BC005561	UTSW	5	104519433	missense	probably damaging	1.00
R4345:BC005561	UTSW	5	104521449	missense	probably benign	0.21
R4697:BC005561	UTSW	5	104522240	missense	probably benign	0.00
R4711:BC005561	UTSW	5	104519661	missense	probably damaging	0.98
R4742:BC005561	UTSW	5	104518857	missense	probably benign	0.17
R4758:BC005561	UTSW	5	104520399	missense	possibly damaging	0.48
R4863:BC005561	UTSW	5	104517750	missense	possibly damaging	0.89
R4867:BC005561	UTSW	5	104521002	missense	possibly damaging	0.91
R5024:BC005561	UTSW	5	104522258	missense	possibly damaging	0.68
R5114:BC005561	UTSW	5	104519876	missense	probably damaging	0.99
R5117:BC005561	UTSW	5	104520255	missense	probably damaging	1.00
R5289:BC005561	UTSW	5	104519657	missense	probably benign	0.03
R5341:BC005561	UTSW	5	104518076	missense	probably damaging	1.00
R5420:BC005561	UTSW	5	104518359	missense	probably damaging	0.99
R5421:BC005561	UTSW	5	104518395	missense	probably benign	0.01
R5422:BC005561	UTSW	5	104519646	missense	probably damaging	0.98
R5606:BC005561	UTSW	5	104521878	missense	probably benign	0.00
R5939:BC005561	UTSW	5	104519207	missense	possibly damaging	0.56
R6104:BC005561	UTSW	5	104518218	missense	probably damaging	1.00
R6169:BC005561	UTSW	5	104518396	missense	probably benign	0.00
R6316:BC005561	UTSW	5	104519729	missense	probably damaging	1.00
R6352:BC005561	UTSW	5	104520198	missense	probably benign	0.11
R6408:BC005561	UTSW	5	104518777	missense	probably benign	0.19
R6458:BC005561	UTSW	5	104522303	missense	probably benign	0.02
R6722:BC005561	UTSW	5	104520279	missense	probably damaging	0.99
R6789:BC005561	UTSW	5	104517689	missense	probably benign	0.00
R7214:BC005561	UTSW	5	104522363	missense	probably benign
R7494:BC005561	UTSW	5	104518418	missense	possibly damaging	0.90
R7733:BC005561	UTSW	5	104519960	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- ACGAGCAACTGGATTTGATGGTG -3'
(R):5'- TGAAGGCAGCCCACTACAAG -3'

Sequencing Primer
(F):5'- TTGATGGTGGAAATAAAGCTGATC -3'
(R):5'- AAGGCCCACTTGGTTGTAG -3'

Posted On

2015-09-25