Mutagenetix > Incidental Mutation

Incidental Mutation 'R8040:Sowahb'

618464

Institutional Source

Beutler Lab

Gene Symbol

Sowahb

Ensembl Gene

ENSMUSG00000045314

Gene Name

sosondowah ankyrin repeat domain family member B

Synonyms

Ankrd56, 5730467H21Rik

MMRRC Submission

067477-MU

Accession Numbers

Essential gene?

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

Stock #

R8040 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93188982-93192881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93191292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 476 (S476P)

Ref Sequence

ENSEMBL: ENSMUSP00000055267 (fasta)

Gene Model

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

AlphaFold

Q8BZW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061328
AA Change: S476P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000055267
Gene: ENSMUSG00000045314
AA Change: S476P

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (47/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,765,035 (GRCm39)	D675V	probably benign	Het
Adam21	T	C	12: 81,607,211 (GRCm39)	R184G	probably benign	Het
Adcy10	A	G	1: 165,379,593 (GRCm39)	K952E	probably damaging	Het
Allc	A	T	12: 28,605,351 (GRCm39)	I316N	probably damaging	Het
Ano8	T	C	8: 71,934,812 (GRCm39)	T432A	probably benign	Het
Cadps2	C	A	6: 23,412,942 (GRCm39)		probably benign	Het
Camsap2	T	C	1: 136,208,985 (GRCm39)	S168G		Het
Ccl19	T	C	4: 42,756,297 (GRCm39)	S12G	probably damaging	Het
Cfap91	A	G	16: 38,140,733 (GRCm39)	S407P	possibly damaging	Het
Cltc	A	G	11: 86,616,031 (GRCm39)	S412P	probably damaging	Het
Cwc25	A	G	11: 97,641,696 (GRCm39)		probably null	Het
Cxcr4	A	G	1: 128,517,535 (GRCm39)	F42S	probably damaging	Het
Cyp4a12a	A	G	4: 115,183,412 (GRCm39)	Q177R	probably benign	Het
Dnal4	T	C	15: 79,646,169 (GRCm39)	T112A	probably benign	Het
Dock9	C	A	14: 121,889,206 (GRCm39)	G304C	probably benign	Het
Evpl	T	C	11: 116,113,758 (GRCm39)	T1311A	probably damaging	Het
Fat4	T	C	3: 39,035,815 (GRCm39)	Y3156H	probably damaging	Het
Golgb1	A	G	16: 36,733,841 (GRCm39)	I1070M	possibly damaging	Het
Hcls1	A	G	16: 36,771,511 (GRCm39)	D139G	probably damaging	Het
Ighv1-7	A	G	12: 114,502,390 (GRCm39)	S26P	probably benign	Het
Il1r1	A	T	1: 40,352,509 (GRCm39)	T563S	probably benign	Het
Kcna1	C	T	6: 126,619,703 (GRCm39)	D206N	probably benign	Het
Kcnk4	A	G	19: 6,904,995 (GRCm39)	Y219H	probably damaging	Het
Kcnt2	G	A	1: 140,377,955 (GRCm39)	A403T	probably damaging	Het
Mdp1	T	A	14: 55,897,523 (GRCm39)	N44I	probably benign	Het
Nceh1	A	G	3: 27,295,374 (GRCm39)	N212D	probably benign	Het
Nynrin	G	A	14: 56,108,982 (GRCm39)	G1363D	probably benign	Het
Or5d20-ps1	T	A	2: 87,931,703 (GRCm39)	R209S	unknown	Het
Or6n1	T	C	1: 173,916,723 (GRCm39)	I39T	possibly damaging	Het
Or6x1	A	G	9: 40,098,717 (GRCm39)	H102R	probably damaging	Het
Or8d1	T	A	9: 38,766,460 (GRCm39)	I34N	probably damaging	Het
Parp2	T	A	14: 51,047,630 (GRCm39)	M47K	probably benign	Het
Pfdn6	T	C	17: 34,158,951 (GRCm39)		probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plb1	T	A	5: 32,430,413 (GRCm39)	H123Q	possibly damaging	Het
Pml	C	A	9: 58,141,968 (GRCm39)	R288L	probably benign	Het
Prodh2	A	G	7: 30,205,836 (GRCm39)	D238G	probably damaging	Het
Rad51ap2	T	A	12: 11,508,792 (GRCm39)	S905T	probably benign	Het
Sclt1	C	T	3: 41,611,811 (GRCm39)	R487H	probably damaging	Het
Serpina3b	A	G	12: 104,097,335 (GRCm39)	I205M	probably benign	Het
Srgap3	C	T	6: 112,716,325 (GRCm39)	R625H	probably benign	Het
Tent4a	A	G	13: 69,648,600 (GRCm39)	Y719H	probably damaging	Het
Tnxb	T	C	17: 34,935,532 (GRCm39)	Y2611H	probably damaging	Het
Uggt1	T	C	1: 36,250,554 (GRCm39)	E237G	possibly damaging	Het
Vmn1r87	T	A	7: 12,866,086 (GRCm39)	Y67F	possibly damaging	Het
Vmn2r107	G	A	17: 20,595,808 (GRCm39)	C787Y	probably damaging	Het
Zscan4-ps3	T	A	7: 11,346,600 (GRCm39)	I212N	probably damaging	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
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
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'- ATGAAGAGTGTGGCTGACTG -3'
(R):5'- TCTTGAGAACTTCCTCCTGGG -3'

Sequencing Primer
(F):5'- TGGCCACAGCATTAGCATCTG -3'
(R):5'- GAGGATCTGTTTTTGCCACCAAAC -3'

Posted On

2020-01-23