Mutagenetix > Incidental Mutations

Incidental Mutation 'R4198:Sowaha'

318642

Institutional Source

Beutler Lab

Gene Symbol

Sowaha

Ensembl Gene

ENSMUSG00000044352

Gene Name

sosondowah ankyrin repeat domain family member A

Synonyms

Ankrd43, A830006N08Rik

MMRRC Submission

041640-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R4198 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53476573-53480274 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53478568 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 447 (E447G)

Ref Sequence

ENSEMBL: ENSMUSP00000100561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067523] [ENSMUST00000104955]

Predicted Effect

probably benign
Transcript: ENSMUST00000067523

Predicted Effect

possibly damaging
Transcript: ENSMUST00000104955
AA Change: E447G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100561
Gene: ENSMUSG00000044352
AA Change: E447G

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	46	59	N/A	INTRINSIC
low complexity region	81	100	N/A	INTRINSIC
low complexity region	101	113	N/A	INTRINSIC
low complexity region	157	168	N/A	INTRINSIC
low complexity region	193	213	N/A	INTRINSIC
low complexity region	295	308	N/A	INTRINSIC
ANK	344	379	1.34e-1	SMART
ANK	383	413	5.84e-2	SMART
low complexity region	496	504	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,085,607	M1002I	probably benign	Het
Ap2b1	C	A	11: 83,342,603	Q481K	probably damaging	Het
Arhgap31	G	A	16: 38,623,913	A194V	probably damaging	Het
Atp10a	A	G	7: 58,813,686	D989G	probably damaging	Het
Ccny	G	A	18: 9,332,928	T201I	probably damaging	Het
Cdca5	T	C	19: 6,090,352	V181A	possibly damaging	Het
Ces1g	A	G	8: 93,305,868	I488T	probably benign	Het
Csmd2	A	G	4: 128,510,924	T2368A	probably benign	Het
Cux1	T	A	5: 136,286,848	I1113F	probably damaging	Het
Dnah3	C	T	7: 119,922,838	G4033D	probably damaging	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Foxg1	T	A	12: 49,385,299	S272T	possibly damaging	Het
Fyco1	T	C	9: 123,826,634	N1020D	probably benign	Het
Gprc5c	T	G	11: 114,863,860	L121R	probably damaging	Het
Hyou1	G	A	9: 44,388,859	R815H	probably damaging	Het
Kera	T	C	10: 97,612,973	*352Q	probably null	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lnpk	T	C	2: 74,569,109	E30G	probably damaging	Het
Map2	C	T	1: 66,425,298	R128C	probably damaging	Het
Olfr1357	A	T	10: 78,612,067	D191E	possibly damaging	Het
Olfr1381	G	A	11: 49,552,634	V296M	possibly damaging	Het
Olfr573-ps1	A	G	7: 102,941,797	F260S	probably damaging	Het
Olfr97	T	A	17: 37,232,134	M79L	probably benign	Het
Ror2	A	G	13: 53,110,644	M792T	probably benign	Het
Serpinb9d	A	G	13: 33,202,674		probably null	Het
Serpinb9d	A	G	13: 33,202,965	I339V	probably benign	Het
Slc1a1	A	G	19: 28,901,452	K197R	probably benign	Het
Snx20	A	G	8: 88,627,598	V168A	possibly damaging	Het
Stard8	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	X: 99,066,508		probably benign	Het
Stx19	G	T	16: 62,822,676	C285F	possibly damaging	Het
Syp	A	G	X: 7,639,927		probably null	Het
Tbkbp1	C	T	11: 97,149,068		probably null	Het
Trim29	G	T	9: 43,311,380	E169*	probably null	Het
Ttll12	T	C	15: 83,577,013	N602D	probably damaging	Het
Zfp26	T	C	9: 20,436,716	T851A	probably benign	Het
Zfp316	T	C	5: 143,254,471	M598V	probably benign	Het
Zhx2	A	G	15: 57,821,729	I165V	probably benign	Het

Other mutations in Sowaha

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4810001:Sowaha	UTSW	11	53478463	missense	probably damaging	1.00
R2113:Sowaha	UTSW	11	53478962	missense	probably damaging	1.00
R4746:Sowaha	UTSW	11	53479336	splice site	probably null
R4910:Sowaha	UTSW	11	53478445	missense	probably damaging	1.00
R4926:Sowaha	UTSW	11	53479510	missense	possibly damaging	0.94
R5298:Sowaha	UTSW	11	53479528	missense	probably benign
R5564:Sowaha	UTSW	11	53478763	missense	probably damaging	1.00
R6056:Sowaha	UTSW	11	53479087	missense	probably damaging	1.00
R6947:Sowaha	UTSW	11	53478398	missense	probably benign	0.02
R7026:Sowaha	UTSW	11	53479223	missense	probably damaging	1.00
R7148:Sowaha	UTSW	11	53479355	missense	probably benign	0.04
R7263:Sowaha	UTSW	11	53479658	missense	probably benign	0.43
Z1176:Sowaha	UTSW	11	53479025	missense	probably benign	0.14
Z1177:Sowaha	UTSW	11	53479360	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAAGAACTTGCTGAAGGAACTTG -3'
(R):5'- AGATGGCTTTACAGCTGGTG -3'

Sequencing Primer
(F):5'- TGACTTCTTCAAGCCACGAG -3'
(R):5'- CTCTCACGGTGGCTACAC -3'

Posted On

2015-06-10