Mutagenetix > Incidental Mutation

Incidental Mutation 'R6365:Sowahc'

512647

Institutional Source

Beutler Lab

Gene Symbol

Sowahc

Ensembl Gene

ENSMUSG00000098188

Gene Name

sosondowah ankyrin repeat domain family member C

Synonyms

C820004L04Rik, Ankrd57

MMRRC Submission

044515-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R6365 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59057775-59062256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59059349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 495 (L495P)

Ref Sequence

ENSEMBL: ENSMUSP00000138351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165971] [ENSMUST00000182161] [ENSMUST00000220156]

AlphaFold

Q8C0J6

Predicted Effect

probably benign
Transcript: ENSMUST00000165971

SMART Domains

Protein: ENSMUSP00000129023
Gene: ENSMUSG00000019917

Domain	Start	End	E-Value	Type
Pfam:Septin	36	307	1.1e-100	PFAM
Pfam:MMR_HSR1	41	182	2.2e-7	PFAM
low complexity region	374	389	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000182161
AA Change: L495P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138351
Gene: ENSMUSG00000098188
AA Change: L495P

Domain	Start	End	E-Value	Type
low complexity region	173	187	N/A	INTRINSIC
low complexity region	213	250	N/A	INTRINSIC
ANK	288	323	1.54e-1	SMART
ANK	327	357	3.57e-6	SMART
low complexity region	434	452	N/A	INTRINSIC
low complexity region	481	492	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220156

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.8%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	T	5: 113,330,510 (GRCm39)	R1235S	probably benign	Het
Abca9	T	A	11: 110,036,481 (GRCm39)	I543F	possibly damaging	Het
Acot6	A	G	12: 84,156,186 (GRCm39)	E378G	probably benign	Het
Adam30	T	C	3: 98,068,350 (GRCm39)	L61S	probably damaging	Het
Agap3	T	A	5: 24,679,983 (GRCm39)	L227Q	probably benign	Het
Ap5m1	T	C	14: 49,316,285 (GRCm39)	I285T	probably benign	Het
Atp2a2	A	G	5: 122,599,979 (GRCm39)	Y497H	probably benign	Het
Bace1	C	T	9: 45,765,974 (GRCm39)	Q17*	probably null	Het
Calcr	T	C	6: 3,711,455 (GRCm39)	I189V	probably benign	Het
Cd48	A	T	1: 171,509,732 (GRCm39)	Q24L	probably null	Het
Cnga1	T	C	5: 72,762,288 (GRCm39)	I409V	probably benign	Het
Ctsd	G	A	7: 141,939,314 (GRCm39)	T37M	probably benign	Het
Cyp2c29	T	C	19: 39,296,198 (GRCm39)	S171P	probably damaging	Het
Dnaaf11	A	T	15: 66,325,983 (GRCm39)	S197R	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drd2	A	T	9: 49,318,249 (GRCm39)	N397I	probably damaging	Het
Dst	A	G	1: 34,231,008 (GRCm39)	E3045G	probably damaging	Het
Dzip3	T	A	16: 48,751,636 (GRCm39)	R764S	probably damaging	Het
Efcab3	A	G	11: 104,815,412 (GRCm39)	E3247G	unknown	Het
Exosc10	T	C	4: 148,645,562 (GRCm39)	V114A	probably benign	Het
Fam234a	C	A	17: 26,439,429 (GRCm39)	E32*	probably null	Het
Fbxw11	C	A	11: 32,670,623 (GRCm39)	D162E	possibly damaging	Het
Fcho2	A	T	13: 98,926,367 (GRCm39)	M72K	probably benign	Het
Fech	T	C	18: 64,591,251 (GRCm39)	N391S	probably benign	Het
Foxp2	T	C	6: 15,286,684 (GRCm39)	L58P	probably damaging	Het
Gdi2	A	G	13: 3,615,093 (GRCm39)	D430G	possibly damaging	Het
Grm8	C	T	6: 27,363,226 (GRCm39)	C763Y	probably damaging	Het
H2bc6	C	T	13: 23,769,641 (GRCm39)	R100H	probably benign	Het
Hibch	T	A	1: 52,908,096 (GRCm39)		probably null	Het
Ifi44l	C	T	3: 151,467,142 (GRCm39)	V63I	unknown	Het
Igf1r	G	T	7: 67,839,798 (GRCm39)	A702S	probably benign	Het
Kctd13	G	A	7: 126,529,862 (GRCm39)	R101Q	probably damaging	Het
Klhl33	T	C	14: 51,129,294 (GRCm39)	D645G	probably benign	Het
Mylk	A	G	16: 34,680,961 (GRCm39)	T74A	probably benign	Het
Myo1f	A	G	17: 33,805,090 (GRCm39)	S453G	probably benign	Het
Naxe	A	G	3: 87,965,298 (GRCm39)	V105A	probably damaging	Het
Nid2	A	G	14: 19,853,201 (GRCm39)	Y1140C	probably damaging	Het
Nlrp12	T	C	7: 3,288,518 (GRCm39)	T665A	probably benign	Het
Or51l4	T	A	7: 103,404,402 (GRCm39)	H130L	probably benign	Het
Otud7b	T	G	3: 96,062,567 (GRCm39)	I602S	probably benign	Het
Pakap	G	T	4: 57,709,675 (GRCm39)	G207*	probably null	Het
Papolg	T	C	11: 23,832,290 (GRCm39)	D166G	probably damaging	Het
Pbx4	T	G	8: 70,324,857 (GRCm39)		probably null	Het
Pdcd4	T	C	19: 53,910,564 (GRCm39)		probably null	Het
Pde2a	C	T	7: 101,159,570 (GRCm39)	T800I	probably damaging	Het
Polk	A	T	13: 96,620,517 (GRCm39)	V582E	probably damaging	Het
Prss40	A	G	1: 34,591,598 (GRCm39)		probably benign	Het
Robo4	G	T	9: 37,322,008 (GRCm39)	R597L	probably benign	Het
Scg2	T	A	1: 79,413,017 (GRCm39)	I529F	probably benign	Het
Sema7a	T	C	9: 57,862,188 (GRCm39)	F180L	probably benign	Het
Trf	A	G	9: 103,099,327 (GRCm39)	V324A	possibly damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vip	C	T	10: 5,594,021 (GRCm39)	R125*	probably null	Het
Vmn1r159	T	A	7: 22,542,826 (GRCm39)	T69S	probably damaging	Het
Vmn1r202	A	T	13: 22,686,374 (GRCm39)	F14L	probably benign	Het
Vmn1r53	T	C	6: 90,201,241 (GRCm39)	N28D	probably damaging	Het
Vmn2r58	T	A	7: 41,513,607 (GRCm39)	K345N	probably benign	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zbtb8os	A	T	4: 129,236,945 (GRCm39)	N120I	possibly damaging	Het
Zfp959	T	A	17: 56,204,785 (GRCm39)	L274H	probably damaging	Het

Other mutations in Sowahc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0744:Sowahc	UTSW	10	59,059,313 (GRCm39)	unclassified	probably benign
R0753:Sowahc	UTSW	10	59,059,313 (GRCm39)	unclassified	probably benign
R4747:Sowahc	UTSW	10	59,058,983 (GRCm39)	missense	probably benign	0.07
R5523:Sowahc	UTSW	10	59,058,785 (GRCm39)	missense	probably benign	0.01
R5650:Sowahc	UTSW	10	59,059,313 (GRCm39)	unclassified	probably benign
R5658:Sowahc	UTSW	10	59,059,049 (GRCm39)	missense	possibly damaging	0.46
R5838:Sowahc	UTSW	10	59,059,012 (GRCm39)	missense	possibly damaging	0.88
R5959:Sowahc	UTSW	10	59,058,920 (GRCm39)	missense	probably benign	0.23
R6166:Sowahc	UTSW	10	59,058,182 (GRCm39)	missense	probably benign	0.44
R7203:Sowahc	UTSW	10	59,058,100 (GRCm39)	missense	probably benign
R7568:Sowahc	UTSW	10	59,059,121 (GRCm39)	missense	probably damaging	1.00
R7637:Sowahc	UTSW	10	59,058,005 (GRCm39)	missense	probably damaging	1.00
R8680:Sowahc	UTSW	10	59,059,001 (GRCm39)	missense	probably benign	0.01
R8912:Sowahc	UTSW	10	59,057,813 (GRCm39)	unclassified	probably benign
R9164:Sowahc	UTSW	10	59,057,897 (GRCm39)	missense	probably benign	0.17
R9336:Sowahc	UTSW	10	59,058,305 (GRCm39)	missense	probably benign	0.07
R9414:Sowahc	UTSW	10	59,058,491 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- GATTCAGGTCGCAAAGCCTC -3'
(R):5'- TTCAGAGACATTTTCTTGCCTCAG -3'

Sequencing Primer
(F):5'- TCGGGCAGCTCAAGTGGAC -3'
(R):5'- TGCCTCAGAATGCTATCCTGAAAGG -3'

Posted On

2018-04-27