Mutagenetix > Incidental Mutation

Incidental Mutation 'R5523:Sowahc'

431691

Institutional Source

Beutler Lab

Gene Symbol

Sowahc

Ensembl Gene

ENSMUSG00000098188

Gene Name

sosondowah ankyrin repeat domain family member C

Synonyms

C820004L04Rik, Ankrd57

MMRRC Submission

043265-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R5523 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

59057775-59062256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59058785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 307 (M307K)

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 benign
Transcript: ENSMUST00000182161
AA Change: M307K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138351
Gene: ENSMUSG00000098188
AA Change: M307K

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

noncoding transcript
Transcript: ENSMUST00000193063
AA Change: C337S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200727
AA Change: C337S

Predicted Effect

probably benign
Transcript: ENSMUST00000220156

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	G	A	3: 153,644,273 (GRCm39)	T70M	probably benign	Het
Adamtsl3	G	A	7: 82,223,650 (GRCm39)	A218T	possibly damaging	Het
Ahnak2	T	C	12: 112,741,642 (GRCm39)	D810G	probably damaging	Het
Ak7	T	A	12: 105,707,341 (GRCm39)	L315*	probably null	Het
Apoa5	T	C	9: 46,181,887 (GRCm39)	F321S	possibly damaging	Het
Baiap2l1	G	C	5: 144,212,768 (GRCm39)	P416A	probably damaging	Het
Bco1	A	G	8: 117,835,432 (GRCm39)	I128V	possibly damaging	Het
Bpifb2	T	C	2: 153,717,905 (GRCm39)		probably benign	Het
Cdt1	G	A	8: 123,294,832 (GRCm39)	R13H	possibly damaging	Het
Cenpj	A	G	14: 56,789,880 (GRCm39)	V723A	probably benign	Het
Chl1	T	A	6: 103,685,675 (GRCm39)	W849R	probably damaging	Het
Cpne9	A	G	6: 113,267,192 (GRCm39)	D169G	probably damaging	Het
Cyp2d22	A	G	15: 82,256,772 (GRCm39)	V334A	probably damaging	Het
Cyp4f39	C	A	17: 32,689,807 (GRCm39)	N84K	probably benign	Het
Cyp4f40	T	A	17: 32,888,796 (GRCm39)	F192I	probably damaging	Het
Disp3	T	C	4: 148,342,554 (GRCm39)	D632G	probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Echs1	G	T	7: 139,692,426 (GRCm39)	T107K	probably benign	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Ergic1	G	A	17: 26,843,580 (GRCm39)	V17I	probably damaging	Het
Fank1	G	T	7: 133,478,569 (GRCm39)	C210F	probably damaging	Het
Fbxo15	T	G	18: 84,978,194 (GRCm39)	M136R	probably damaging	Het
Ggcx	C	A	6: 72,401,017 (GRCm39)	P240H	probably damaging	Het
Gpr179	T	C	11: 97,227,608 (GRCm39)	R1516G	probably benign	Het
Gprin3	G	A	6: 59,330,931 (GRCm39)	Q459*	probably null	Het
Hadha	C	A	5: 30,350,252 (GRCm39)	V99F	possibly damaging	Het
Hirip3	A	G	7: 126,463,034 (GRCm39)	D330G	possibly damaging	Het
Irx2	T	C	13: 72,779,714 (GRCm39)	W333R	probably damaging	Het
Kansl1l	T	C	1: 66,841,271 (GRCm39)	T10A	probably benign	Het
Kcnd2	T	C	6: 21,723,211 (GRCm39)	I467T	probably benign	Het
Klc3	A	T	7: 19,130,932 (GRCm39)	I215N	probably damaging	Het
Kmt2c	A	G	5: 25,504,337 (GRCm39)	V3657A	probably benign	Het
Lin28b	A	T	10: 45,345,164 (GRCm39)	L54*	probably null	Het
Mgll	T	C	6: 88,702,743 (GRCm39)	V14A	probably benign	Het
Mrc2	A	G	11: 105,234,408 (GRCm39)	N976S	probably benign	Het
Myh8	C	A	11: 67,196,788 (GRCm39)	A1807E	possibly damaging	Het
Nalcn	G	A	14: 123,647,155 (GRCm39)	P573S	probably damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Neb	T	C	2: 52,168,827 (GRCm39)	S1903G	probably benign	Het
Nfe2	T	A	15: 103,157,556 (GRCm39)	D145V	probably damaging	Het
Or52a20	T	A	7: 103,366,687 (GRCm39)	Y295*	probably null	Het
Padi1	A	T	4: 140,542,164 (GRCm39)	V586D	probably damaging	Het
Pcdh12	T	C	18: 38,416,192 (GRCm39)	D311G	probably damaging	Het
Pcdha11	A	T	18: 37,145,439 (GRCm39)	H510L	probably damaging	Het
Plcb1	C	A	2: 135,102,486 (GRCm39)	P221H	probably benign	Het
Plekhg2	A	T	7: 28,069,856 (GRCm39)	V58E	probably damaging	Het
Pparg	A	C	6: 115,467,032 (GRCm39)	Q435P	probably damaging	Het
Ppp1r36	A	G	12: 76,484,892 (GRCm39)	T282A	possibly damaging	Het
Prcd	T	C	11: 116,559,110 (GRCm39)		probably benign	Het
Pygo1	A	T	9: 72,852,266 (GRCm39)	H151L	possibly damaging	Het
Rnmt	A	G	18: 68,446,773 (GRCm39)	Y266C	probably benign	Het
Rxrb	T	C	17: 34,255,411 (GRCm39)	V246A	probably damaging	Het
Sart1	A	G	19: 5,433,704 (GRCm39)	S378P	probably damaging	Het
Sema4d	T	C	13: 51,865,390 (GRCm39)	N318S	possibly damaging	Het
Sis	C	T	3: 72,798,754 (GRCm39)	V1765I	probably benign	Het
Slc17a6	A	T	7: 51,276,598 (GRCm39)	K116*	probably null	Het
Smc6	T	A	12: 11,341,540 (GRCm39)	H519Q	probably benign	Het
Sptbn1	A	G	11: 30,087,560 (GRCm39)	Y960H	probably damaging	Het
Tmem270	A	C	5: 134,931,636 (GRCm39)	V102G	probably benign	Het
Tmprss11d	A	G	5: 86,486,729 (GRCm39)	F54L	probably benign	Het
Top1	T	A	2: 160,544,695 (GRCm39)	Y270*	probably null	Het
Trpm2	A	G	10: 77,771,795 (GRCm39)	F615L	probably benign	Het
Ttf2	A	G	3: 100,866,558 (GRCm39)	S525P	probably damaging	Het
Ttn	A	T	2: 76,777,241 (GRCm39)	M1387K	possibly damaging	Het
Upk3bl	A	T	5: 136,088,954 (GRCm39)	R156W	probably damaging	Het
Usp34	G	T	11: 23,299,198 (GRCm39)	R290L	probably benign	Het
Vwf	T	C	6: 125,620,005 (GRCm39)	V1561A		Het
Zan	A	G	5: 137,420,155 (GRCm39)	I2834T	unknown	Het
Zfp105	A	G	9: 122,755,454 (GRCm39)	Y90C	probably benign	Het
Zfp804a	T	C	2: 82,089,339 (GRCm39)	V1056A	probably damaging	Het
Zfp956	A	T	6: 47,930,455 (GRCm39)		probably benign	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
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
R6365:Sowahc	UTSW	10	59,059,349 (GRCm39)	missense	probably damaging	1.00
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'- TTCTTCGTCCGCAGAAGAG -3'
(R):5'- ATACTGAGAGGCCTTTCTCCC -3'

Sequencing Primer
(F):5'- GCCTCGGTTACCCTGGATC -3'
(R):5'- GAGGCCTTTCTCCCGCTGTAG -3'

Posted On

2016-10-05