Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02656:Sowahb'

302334

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sowahb

Ensembl Gene

ENSMUSG00000045314

Gene Name

sosondowah ankyrin repeat domain family member B

Synonyms

Ankrd56, 5730467H21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

IGL02656

Quality Score

Status

Chromosome

Chromosomal Location

93188982-93192881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93191106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 538 (S538G)

Ref Sequence

ENSEMBL: ENSMUSP00000055267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061328]

AlphaFold

Q8BZW2

Predicted Effect

probably benign
Transcript: ENSMUST00000061328
AA Change: S538G

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

SMART Domains

Protein: ENSMUSP00000055267
Gene: ENSMUSG00000045314
AA Change: S538G

Domain	Start	End	E-Value	Type
low complexity region	233	253	N/A	INTRINSIC
low complexity region	267	277	N/A	INTRINSIC
low complexity region	373	394	N/A	INTRINSIC
low complexity region	462	488	N/A	INTRINSIC
low complexity region	491	504	N/A	INTRINSIC
ANK	597	632	7.99e2	SMART
ANK	636	666	4.32e-5	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit exencephaly and wavy neural tube. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	G	T	14: 31,424,197 (GRCm39)	A981D	possibly damaging	Het
Ccdc69	G	T	11: 54,943,263 (GRCm39)	Q114K	possibly damaging	Het
Cct5	A	T	15: 31,597,576 (GRCm39)	D66E	probably damaging	Het
Ces2e	G	T	8: 105,653,688 (GRCm39)	R42I	possibly damaging	Het
Cib2	T	G	9: 54,453,182 (GRCm39)	D178A	probably damaging	Het
Cldn7	G	A	11: 69,857,834 (GRCm39)	V97I	probably benign	Het
Dok3	A	T	13: 55,676,293 (GRCm39)	I12N	probably damaging	Het
Fndc5	T	A	4: 129,033,239 (GRCm39)	V102E	probably damaging	Het
Gas2	T	C	7: 51,593,492 (GRCm39)	S191P	probably benign	Het
Herc6	T	A	6: 57,588,821 (GRCm39)		probably null	Het
Krt18	A	G	15: 101,939,357 (GRCm39)	T277A	probably benign	Het
Mpp3	A	G	11: 101,899,427 (GRCm39)	S365P	probably benign	Het
Msmo1	T	C	8: 65,180,906 (GRCm39)	T3A	probably benign	Het
Or1e34	A	G	11: 73,778,865 (GRCm39)	F111S	probably damaging	Het
Or4e2	G	T	14: 52,688,166 (GRCm39)	A99S	possibly damaging	Het
Or8g18	T	A	9: 39,149,456 (GRCm39)	E88V	probably benign	Het
Pex19	C	A	1: 171,958,252 (GRCm39)	A77E	probably benign	Het
Phf20l1	A	G	15: 66,501,676 (GRCm39)	D620G	probably damaging	Het
Prr5	A	G	15: 84,583,337 (GRCm39)	D105G	probably damaging	Het
Rab12	T	A	17: 66,813,049 (GRCm39)	K88M	probably damaging	Het
Rictor	T	C	15: 6,806,401 (GRCm39)	V673A	probably damaging	Het
Rps26	A	G	10: 128,461,126 (GRCm39)	S88P	possibly damaging	Het
Sema5a	T	A	15: 32,631,431 (GRCm39)	S605T	possibly damaging	Het
Slc35a4	T	C	18: 36,815,500 (GRCm39)	M110T	probably damaging	Het
Srrt	T	A	5: 137,297,938 (GRCm39)		probably benign	Het
Ssbp2	G	A	13: 91,817,871 (GRCm39)		probably benign	Het
Supt20	C	T	3: 54,615,816 (GRCm39)	R236W	probably damaging	Het
Tenm4	A	G	7: 96,534,640 (GRCm39)	D1791G	probably damaging	Het
Tgm6	G	A	2: 129,987,023 (GRCm39)	G497D	probably damaging	Het
Trim12c	C	T	7: 103,990,410 (GRCm39)	V356I	probably damaging	Het
Vwce	T	A	19: 10,641,716 (GRCm39)	I814K	probably benign	Het

Other mutations in Sowahb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00939:Sowahb	APN	5	93,191,701 (GRCm39)	missense	probably benign	0.03
IGL00963:Sowahb	APN	5	93,191,870 (GRCm39)	missense	probably damaging	0.98
R0827:Sowahb	UTSW	5	93,191,145 (GRCm39)	missense	probably damaging	0.99
R2174:Sowahb	UTSW	5	93,192,284 (GRCm39)	missense	possibly damaging	0.72
R3121:Sowahb	UTSW	5	93,191,261 (GRCm39)	missense	possibly damaging	0.85
R3122:Sowahb	UTSW	5	93,191,261 (GRCm39)	missense	possibly damaging	0.85
R4646:Sowahb	UTSW	5	93,190,715 (GRCm39)	missense	probably damaging	1.00
R5130:Sowahb	UTSW	5	93,190,630 (GRCm39)	missense	possibly damaging	0.56
R7712:Sowahb	UTSW	5	93,191,240 (GRCm39)	missense	probably benign	0.18
R8040:Sowahb	UTSW	5	93,191,292 (GRCm39)	missense	possibly damaging	0.73
R8071:Sowahb	UTSW	5	93,190,922 (GRCm39)	missense	probably damaging	1.00
R8075:Sowahb	UTSW	5	93,192,276 (GRCm39)	nonsense	probably null
R8138:Sowahb	UTSW	5	93,191,342 (GRCm39)	missense	probably benign
R8505:Sowahb	UTSW	5	93,190,450 (GRCm39)	missense	possibly damaging	0.85
R9429:Sowahb	UTSW	5	93,191,080 (GRCm39)	missense	possibly damaging	0.88
X0064:Sowahb	UTSW	5	93,191,250 (GRCm39)	missense	probably benign

Posted On

2015-04-16