Mutagenetix > Incidental Mutation

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

A830006N08Rik, Ankrd43

MMRRC Submission

041640-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R4198 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53367405-53371022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53369395 bp (GRCm39)

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]

AlphaFold

Q8BLS7

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: 58,124,766 (GRCm39)	M1002I	probably benign	Het
Ap2b1	C	A	11: 83,233,429 (GRCm39)	Q481K	probably damaging	Het
Arhgap31	G	A	16: 38,444,275 (GRCm39)	A194V	probably damaging	Het
Atp10a	A	G	7: 58,463,434 (GRCm39)	D989G	probably damaging	Het
Ccny	G	A	18: 9,332,928 (GRCm39)	T201I	probably damaging	Het
Cdca5	T	C	19: 6,140,382 (GRCm39)	V181A	possibly damaging	Het
Ces1g	A	G	8: 94,032,496 (GRCm39)	I488T	probably benign	Het
Csmd2	A	G	4: 128,404,717 (GRCm39)	T2368A	probably benign	Het
Cux1	T	A	5: 136,315,702 (GRCm39)	I1113F	probably damaging	Het
Dnah3	C	T	7: 119,522,061 (GRCm39)	G4033D	probably damaging	Het
Foxg1	T	A	12: 49,432,082 (GRCm39)	S272T	possibly damaging	Het
Fyco1	T	C	9: 123,655,699 (GRCm39)	N1020D	probably benign	Het
Gprc5c	T	G	11: 114,754,686 (GRCm39)	L121R	probably damaging	Het
Hyou1	G	A	9: 44,300,156 (GRCm39)	R815H	probably damaging	Het
Kera	T	C	10: 97,448,835 (GRCm39)	*352Q	probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lnpk	T	C	2: 74,399,453 (GRCm39)	E30G	probably damaging	Het
Map2	C	T	1: 66,464,457 (GRCm39)	R128C	probably damaging	Het
Or1i2	A	T	10: 78,447,901 (GRCm39)	D191E	possibly damaging	Het
Or1o2	T	A	17: 37,543,025 (GRCm39)	M79L	probably benign	Het
Or2y11	G	A	11: 49,443,461 (GRCm39)	V296M	possibly damaging	Het
Or51h7	A	G	7: 102,591,004 (GRCm39)	F260S	probably damaging	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Ror2	A	G	13: 53,264,680 (GRCm39)	M792T	probably benign	Het
Serpinb9d	A	G	13: 33,386,948 (GRCm39)	I339V	probably benign	Het
Serpinb9d	A	G	13: 33,386,657 (GRCm39)		probably null	Het
Slc1a1	A	G	19: 28,878,852 (GRCm39)	K197R	probably benign	Het
Snx20	A	G	8: 89,354,226 (GRCm39)	V168A	possibly damaging	Het
Stard8	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	X: 98,110,114 (GRCm39)		probably benign	Het
Stx19	G	T	16: 62,643,039 (GRCm39)	C285F	possibly damaging	Het
Syp	A	G	X: 7,506,166 (GRCm39)		probably null	Het
Tbkbp1	C	T	11: 97,039,894 (GRCm39)		probably null	Het
Trim29	G	T	9: 43,222,677 (GRCm39)	E169*	probably null	Het
Ttll12	T	C	15: 83,461,214 (GRCm39)	N602D	probably damaging	Het
Zfp26	T	C	9: 20,348,012 (GRCm39)	T851A	probably benign	Het
Zfp316	T	C	5: 143,240,226 (GRCm39)	M598V	probably benign	Het
Zhx2	A	G	15: 57,685,125 (GRCm39)	I165V	probably benign	Het

Other mutations in Sowaha

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4810001:Sowaha	UTSW	11	53,369,290 (GRCm39)	missense	probably damaging	1.00
R2113:Sowaha	UTSW	11	53,369,789 (GRCm39)	missense	probably damaging	1.00
R4746:Sowaha	UTSW	11	53,370,163 (GRCm39)	splice site	probably null
R4910:Sowaha	UTSW	11	53,369,272 (GRCm39)	missense	probably damaging	1.00
R4926:Sowaha	UTSW	11	53,370,337 (GRCm39)	missense	possibly damaging	0.94
R5298:Sowaha	UTSW	11	53,370,355 (GRCm39)	missense	probably benign
R5564:Sowaha	UTSW	11	53,369,590 (GRCm39)	missense	probably damaging	1.00
R6056:Sowaha	UTSW	11	53,369,914 (GRCm39)	missense	probably damaging	1.00
R6947:Sowaha	UTSW	11	53,369,225 (GRCm39)	missense	probably benign	0.02
R7026:Sowaha	UTSW	11	53,370,050 (GRCm39)	missense	probably damaging	1.00
R7148:Sowaha	UTSW	11	53,370,182 (GRCm39)	missense	probably benign	0.04
R7263:Sowaha	UTSW	11	53,370,485 (GRCm39)	missense	probably benign	0.43
Z1176:Sowaha	UTSW	11	53,369,852 (GRCm39)	missense	probably benign	0.14
Z1177:Sowaha	UTSW	11	53,370,187 (GRCm39)	missense	probably benign	0.00
Z1189:Sowaha	UTSW	11	53,369,279 (GRCm39)	missense	possibly damaging	0.84

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