Mutagenetix > Incidental Mutation

Incidental Mutation 'R3122:Sowahb'

264100

Institutional Source

Beutler Lab

Gene Symbol

Sowahb

Ensembl Gene

ENSMUSG00000045314

Gene Name

sosondowah ankyrin repeat domain family member B

Synonyms

Ankrd56, 5730467H21Rik

MMRRC Submission

040595-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R3122 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93188982-93192881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93191261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 486 (D486G)

Ref Sequence

ENSEMBL: ENSMUSP00000055267 (fasta)

Gene Model

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

AlphaFold

Q8BZW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061328
AA Change: D486G

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055267
Gene: ENSMUSG00000045314
AA Change: D486G

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

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (48/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 25,118,248 (GRCm39)	N8S	possibly damaging	Het
Ago3	A	G	4: 126,311,165 (GRCm39)	I16T	probably benign	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Brdt	A	G	5: 107,525,011 (GRCm39)	T851A	probably damaging	Het
Capn7	A	T	14: 31,081,167 (GRCm39)	I395F	probably damaging	Het
Ccbe1	A	G	18: 66,199,900 (GRCm39)	M274T	probably benign	Het
Ccdc146	T	C	5: 21,499,591 (GRCm39)	R864G	possibly damaging	Het
Ccdc17	G	T	4: 116,456,749 (GRCm39)		probably benign	Het
Ccdc85a	C	A	11: 28,533,499 (GRCm39)	C15F	unknown	Het
Cpt1c	A	G	7: 44,609,345 (GRCm39)	Y715H	probably damaging	Het
Dmwd	T	A	7: 18,814,620 (GRCm39)	F423L	probably damaging	Het
Dock3	C	G	9: 106,788,542 (GRCm39)	A1598P	probably damaging	Het
Ext2	A	G	2: 93,644,170 (GRCm39)	L37P	probably damaging	Het
Fam120a	T	C	13: 49,045,562 (GRCm39)	D758G	possibly damaging	Het
Foxn4	T	C	5: 114,396,776 (GRCm39)	T236A	probably damaging	Het
Gm9776	A	T	13: 94,495,194 (GRCm39)		probably benign	Het
Grik1	A	T	16: 87,803,361 (GRCm39)	M277K	probably damaging	Het
H2-T23	T	A	17: 36,341,855 (GRCm39)	M248L	probably benign	Het
Hephl1	A	G	9: 15,000,265 (GRCm39)	F329S	possibly damaging	Het
Kif13a	G	A	13: 46,918,072 (GRCm39)		probably benign	Het
Knl1	T	A	2: 118,899,425 (GRCm39)	H375Q	probably benign	Het
Lox	A	G	18: 52,658,177 (GRCm39)	F332S	probably damaging	Het
Ltf	G	A	9: 110,851,968 (GRCm39)	C135Y	probably damaging	Het
Madd	A	G	2: 91,006,554 (GRCm39)	Y347H	probably damaging	Het
Mboat1	T	C	13: 30,422,031 (GRCm39)	Y387H	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip1	T	C	13: 100,545,503 (GRCm39)	T1342A	probably damaging	Het
Naip6	T	C	13: 100,453,031 (GRCm39)	D10G	probably benign	Het
Nudt8	A	G	19: 4,052,015 (GRCm39)	R209G	possibly damaging	Het
Or4c31	G	T	2: 88,291,853 (GRCm39)	M75I	probably damaging	Het
Or56a3	T	C	7: 104,735,385 (GRCm39)	V154A	probably benign	Het
Or8k35	A	T	2: 86,424,954 (GRCm39)	Y73N	possibly damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Phactr1	T	A	13: 43,213,049 (GRCm39)	S131T	possibly damaging	Het
Phactr3	A	G	2: 177,973,411 (GRCm39)	I475V	probably damaging	Het
Pip	T	A	6: 41,828,819 (GRCm39)	N121K	probably damaging	Het
Pla2g4d	T	C	2: 120,109,384 (GRCm39)	R222G	probably benign	Het
Rbm42	A	G	7: 30,349,152 (GRCm39)		probably benign	Het
Svep1	C	T	4: 58,087,845 (GRCm39)	V1745I	possibly damaging	Het
Tnfsf15	T	A	4: 63,652,522 (GRCm39)	E96D	probably benign	Het
Vmn1r217	A	G	13: 23,298,249 (GRCm39)	S218P	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r71	T	G	7: 85,264,828 (GRCm39)	Y53*	probably null	Het
Wapl	A	G	14: 34,451,172 (GRCm39)	I729M	possibly damaging	Het
Wrnip1	A	G	13: 32,986,744 (GRCm39)	D175G	probably benign	Het
Zscan2	G	A	7: 80,513,092 (GRCm39)	A26T	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
IGL02656:Sowahb	APN	5	93,191,106 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ATGCTCCCTGGTGTCTAGAG -3'
(R):5'- TCGGATATAGAGGGAATGCGCC -3'

Sequencing Primer
(F):5'- GGTATCAAGGCTGCAGATCCATC -3'
(R):5'- AATGCGCCCAGTTTTCGGAAG -3'

Posted On

2015-02-05