Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01133:BC005561'

51167

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 #

IGL01133

Quality Score

Status

Chromosome

Chromosomal Location

104508352-104522611 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104517662 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 17 (T17A)

Ref Sequence

ENSEMBL: ENSMUSP00000130629 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000096452
AA Change: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: T17A

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,595,434	D486E	probably damaging	Het
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
1700007G11Rik	T	C	5: 98,498,381		probably null	Het
Adam4	T	C	12: 81,421,446	T134A	possibly damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Cartpt	T	G	13: 99,900,040	I67L	probably benign	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Ccer1	T	C	10: 97,694,539	F355L	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cfap36	A	C	11: 29,234,414	V114G	probably damaging	Het
Col4a3bp	A	G	13: 96,614,802	E320G	probably damaging	Het
Cyp2b9	G	A	7: 26,210,235	G476D	probably damaging	Het
Eif3l	T	C	15: 79,076,920	Y58H	possibly damaging	Het
Gapvd1	T	C	2: 34,725,398	Y411C	probably damaging	Het
Gm27029	G	T	11: 101,411,960	F236L	possibly damaging	Het
Golga1	T	C	2: 39,023,472	T501A	probably benign	Het
Heg1	C	T	16: 33,727,287	H815Y	probably benign	Het
Krt1	A	T	15: 101,848,193	D298E	probably damaging	Het
Mecr	T	A	4: 131,843,596	S32T	probably benign	Het
Med1	A	T	11: 98,157,986	Y661*	probably null	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Pla2g12b	G	T	10: 59,416,417	A37S	probably benign	Het
Plekha7	G	T	7: 116,145,241		probably null	Het
Ralgapa1	T	C	12: 55,642,348	I1989V	probably damaging	Het
Ralgapa1	T	C	12: 55,642,359	H1938R	probably damaging	Het
Sec31b	A	G	19: 44,527,041	F309S	probably damaging	Het
Serpina3a	T	C	12: 104,121,499	I227T	probably benign	Het
Slc1a3	A	G	15: 8,645,687	I278T	probably damaging	Het
Slc1a3	T	C	15: 8,650,993	Y127C	probably damaging	Het
Spen	T	C	4: 141,489,901	K449R	unknown	Het
Tmem130	A	G	5: 144,752,445	S129P	probably damaging	Het
Trim68	A	T	7: 102,679,141		probably null	Het
Vdac3-ps1	T	C	13: 18,031,449		noncoding transcript	Het
Vmn2r75	A	G	7: 86,148,032		probably benign	Het
Zbtb9	G	T	17: 26,975,011		probably benign	Het
Zfp568	T	A	7: 29,987,808		probably null	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
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
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

2013-06-21