Mutagenetix > Incidental Mutation

Incidental Mutation 'R5130:Sowahb'

394946

Institutional Source

Beutler Lab

Gene Symbol

Sowahb

Ensembl Gene

ENSMUSG00000045314

Gene Name

sosondowah ankyrin repeat domain family member B

Synonyms

Ankrd56, 5730467H21Rik

MMRRC Submission

042718-MU

Accession Numbers

Essential gene?

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

Stock #

R5130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93188982-93192881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93190630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 696 (K696N)

Ref Sequence

ENSEMBL: ENSMUSP00000055267 (fasta)

Gene Model

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

AlphaFold

Q8BZW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061328
AA Change: K696N

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000055267
Gene: ENSMUSG00000045314
AA Change: K696N

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.4%

Validation Efficiency

96% (51/53)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	C	1: 161,780,184 (GRCm39)	N110S	possibly damaging	Het
Acss3	T	C	10: 106,840,586 (GRCm39)	I392V	possibly damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Arhgef11	A	G	3: 87,633,321 (GRCm39)	H696R	possibly damaging	Het
Baiap3	G	T	17: 25,464,316 (GRCm39)	D847E	probably benign	Het
Cdc27	T	C	11: 104,425,600 (GRCm39)	K72R	probably benign	Het
Cry2	T	C	2: 92,254,944 (GRCm39)	E137G	probably benign	Het
Dhodh	A	T	8: 110,322,388 (GRCm39)	L237Q	possibly damaging	Het
Dscam	A	T	16: 96,620,979 (GRCm39)	N576K	probably benign	Het
Eng	A	G	2: 32,571,518 (GRCm39)	N636S	probably damaging	Het
Ephx2	A	T	14: 66,345,511 (GRCm39)	I151K	probably damaging	Het
Fahd1	A	G	17: 25,068,733 (GRCm39)	C115R	probably damaging	Het
Fer1l4	T	A	2: 155,891,386 (GRCm39)	I143F	possibly damaging	Het
Iqgap3	C	A	3: 88,016,161 (GRCm39)	N981K	probably damaging	Het
Kcna5	T	C	6: 126,511,496 (GRCm39)	I211V	probably benign	Het
Mcm9	A	T	10: 53,506,495 (GRCm39)	V14E	possibly damaging	Het
Mlh1	A	G	9: 111,058,906 (GRCm39)		probably null	Het
Mylk	A	G	16: 34,809,367 (GRCm39)	K1775E	probably damaging	Het
Myo18b	T	C	5: 113,021,769 (GRCm39)	D541G	probably benign	Het
Ncapd2	A	T	6: 125,146,887 (GRCm39)	M1233K	possibly damaging	Het
Nf2	A	T	11: 4,779,862 (GRCm39)		probably benign	Het
Nova2	C	T	7: 18,660,069 (GRCm39)	T22I	unknown	Het
Or3a1d	A	T	11: 74,237,993 (GRCm39)	M19K	probably damaging	Het
Or7g28	T	A	9: 19,272,369 (GRCm39)	Y94F	possibly damaging	Het
Or8b12	T	A	9: 37,657,805 (GRCm39)	I125N	probably damaging	Het
Pcdha2	A	T	18: 37,073,722 (GRCm39)	N451I	probably damaging	Het
Pcdhb12	T	A	18: 37,568,877 (GRCm39)	F8I	probably benign	Het
Pdzph1	A	C	17: 59,229,604 (GRCm39)	L1018W	probably damaging	Het
Prdm9	T	C	17: 15,764,729 (GRCm39)	R684G	probably benign	Het
Rabep1	T	A	11: 70,795,557 (GRCm39)	V261E	probably damaging	Het
Ros1	T	A	10: 52,040,037 (GRCm39)	Y318F	possibly damaging	Het
Samd9l	A	T	6: 3,374,548 (GRCm39)	D904E	possibly damaging	Het
Siah3	A	T	14: 75,763,381 (GRCm39)	K211*	probably null	Het
Slc5a8	T	A	10: 88,762,077 (GRCm39)	N572K	probably benign	Het
Slfn8	A	G	11: 82,894,647 (GRCm39)	F664S	probably benign	Het
St7l	A	T	3: 104,803,080 (GRCm39)	H330L	probably damaging	Het
Tnrc6c	T	A	11: 117,629,176 (GRCm39)		probably null	Het
Ttc28	G	T	5: 111,040,722 (GRCm39)	V37F	probably benign	Het
Uaca	C	A	9: 60,787,510 (GRCm39)	Q1409K	probably damaging	Het
V1rd19	T	A	7: 23,702,537 (GRCm39)	M1K	probably null	Het
Vmn1r225	A	G	17: 20,723,047 (GRCm39)	R163G	possibly damaging	Het
Wdr87-ps	T	C	7: 29,228,699 (GRCm39)		noncoding transcript	Het
Zc3h3	C	A	15: 75,651,139 (GRCm39)	V694L	probably damaging	Het
Zfp442	G	T	2: 150,251,530 (GRCm39)	T123K	possibly damaging	Het
Zmym1	A	T	4: 126,942,451 (GRCm39)	S646T	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
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'- CCACCTACTTAGTAGCTTGGGG -3'
(R):5'- TCCAGTTGTGGCTATACCCC -3'

Sequencing Primer
(F):5'- CATGCGTGCGCCTCTTG -3'
(R):5'- TGGCTATACCCCACTGCAC -3'

Posted On

2016-06-21