Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03275:BC005561'

415379

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC005561

Ensembl Gene

ENSMUSG00000079065

Gene Name

cDNA sequence BC005561

Synonyms

Accession Numbers

Genbank: NM_001166581; MGI: 3040669

Is this an essential gene?

Probably essential (E-score: 0.922) question?

Stock #

IGL03275

Quality Score

Status

Chromosome

Chromosomal Location

104508352-104522611 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104518277 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 222 (C222S)

Ref Sequence

ENSEMBL: ENSMUSP00000130629 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000096452
AA Change: C222S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: C222S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	A	8: 72,445,124	L125H	probably damaging	Het
2210408I21Rik	A	T	13: 77,298,555	T816S	possibly damaging	Het
Aspm	T	A	1: 139,487,295	I1438N	probably damaging	Het
Bicdl1	A	G	5: 115,731,160	Y134H	probably damaging	Het
Btnl1	A	T	17: 34,385,512	K422N	probably damaging	Het
Ccdc158	T	A	5: 92,629,632	I941F	probably benign	Het
Crnn	A	G	3: 93,149,418	K504E	possibly damaging	Het
Csmd1	T	A	8: 16,157,092	I1308L	probably benign	Het
Cwf19l1	T	C	19: 44,123,257	M246V	probably benign	Het
Desi1	T	A	15: 82,003,762	I36F	probably damaging	Het
Foxf2	A	G	13: 31,626,531	N151S	probably damaging	Het
Fryl	A	G	5: 73,148,033	V35A	possibly damaging	Het
Gabrg3	T	C	7: 56,773,347	Y201C	probably damaging	Het
Gm11487	T	A	4: 73,403,416	R127S	possibly damaging	Het
Gm813	T	C	16: 58,615,756	Y68C	probably damaging	Het
Grb10	T	A	11: 11,933,591	T500S	possibly damaging	Het
Hsdl2	A	G	4: 59,617,747	*371W	probably null	Het
Irf7	C	A	7: 141,265,146	R49L	probably damaging	Het
Itpr2	T	C	6: 146,158,877		probably benign	Het
Jam3	T	C	9: 27,101,249	T201A	probably damaging	Het
Mst1	T	C	9: 108,084,388	S606P	possibly damaging	Het
Olfr483	T	A	7: 108,103,608	C100S	probably damaging	Het
Otog	A	G	7: 46,306,230	E2800G	probably damaging	Het
Ptpro	C	T	6: 137,450,006	P292S	probably damaging	Het
Rab10	A	T	12: 3,256,959	Y79N	probably damaging	Het
Rc3h1	T	C	1: 160,959,555		probably null	Het
Slc2a3	C	T	6: 122,736,742		probably null	Het
Sptbn2	T	C	19: 4,732,661	Y542H	possibly damaging	Het
Tas2r110	T	C	6: 132,868,098	F31L	probably damaging	Het
Ttn	A	G	2: 76,945,107	S1864P	probably damaging	Het
Ttn	A	G	2: 76,717,344	S32161P	probably damaging	Het
Vmn1r228	A	G	17: 20,776,842	I138T	probably damaging	Het
Vmn2r10	T	A	5: 109,003,377	T124S	probably benign	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
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
R3982:BC005561	UTSW	5	104521023	missense	probably benign	0.29
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

Posted On

2016-08-02