Mutagenetix > Incidental Mutation

Incidental Mutation 'R5658:Sowahc'

443937

Institutional Source

Beutler Lab

Gene Symbol

Sowahc

Ensembl Gene

ENSMUSG00000098188

Gene Name

sosondowah ankyrin repeat domain family member C

Synonyms

C820004L04Rik, Ankrd57

MMRRC Submission

043172-MU

Accession Numbers

Essential gene?

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

Stock #

R5658 (G1)

Quality Score

165

Status

Not validated

Chromosome

Chromosomal Location

59057775-59062256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59059049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 395 (R395H)

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

possibly damaging
Transcript: ENSMUST00000182161
AA Change: R395H

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138351
Gene: ENSMUSG00000098188
AA Change: R395H

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: A425T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200727
AA Change: A425T

Predicted Effect

probably benign
Transcript: ENSMUST00000220156

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,644 (GRCm39)	L221P	probably damaging	Het
Art2b	A	G	7: 101,229,569 (GRCm39)	V110A	probably damaging	Het
Bccip	A	G	7: 133,319,349 (GRCm39)	I147V	possibly damaging	Het
Bcl9l	G	T	9: 44,420,466 (GRCm39)	G1254W	probably damaging	Het
Cep68	C	T	11: 20,191,885 (GRCm39)		probably null	Het
Chst5	A	G	8: 112,617,422 (GRCm39)	V66A	probably damaging	Het
F5	C	A	1: 164,019,907 (GRCm39)	T794K	probably damaging	Het
Faf2	T	C	13: 54,789,347 (GRCm39)	V55A	probably benign	Het
Gm7535	T	A	17: 18,131,582 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,326,852 (GRCm39)	V1471A	possibly damaging	Het
Kbtbd4	T	A	2: 90,736,423 (GRCm39)	S145T	probably benign	Het
Kcnh3	C	T	15: 99,139,957 (GRCm39)	P948S	possibly damaging	Het
Kcnq1	G	A	7: 142,917,432 (GRCm39)		probably null	Het
Kng2	T	C	16: 22,815,770 (GRCm39)		probably null	Het
Krt9	A	G	11: 100,081,593 (GRCm39)	I312T	probably damaging	Het
Lactb2	T	A	1: 13,697,642 (GRCm39)	H254L	probably benign	Het
Lama5	A	T	2: 179,850,069 (GRCm39)	Y187*	probably null	Het
Ldc1	A	G	4: 130,114,234 (GRCm39)	V61A	probably benign	Het
Maf1	T	C	15: 76,237,420 (GRCm39)	V154A	possibly damaging	Het
Mlh1	A	G	9: 111,076,448 (GRCm39)	V303A	probably damaging	Het
Mrgprh	A	T	17: 13,096,646 (GRCm39)	K295N	possibly damaging	Het
Mtrr	G	T	13: 68,717,034 (GRCm39)	A393D	possibly damaging	Het
Myef2l	C	T	3: 10,153,837 (GRCm39)	S202F	probably damaging	Het
Nebl	A	G	2: 17,353,663 (GRCm39)	Y963H	probably damaging	Het
Ormdl1	T	C	1: 53,348,093 (GRCm39)	V145A	probably damaging	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Pmpcb	A	G	5: 21,943,999 (GRCm39)	T78A	probably damaging	Het
Ptprz1	G	A	6: 23,016,188 (GRCm39)	R1677Q	probably damaging	Het
Rad54l2	ACCTCCTCCTCCTCCTCCTCCTCCTC	ACCTCCTCCTCCTCCTCCTCCTC	9: 106,631,191 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,790,514 (GRCm39)		probably null	Het
Sh3bp2	T	A	5: 34,714,291 (GRCm39)	I162N	probably damaging	Het
Slc38a10	C	T	11: 119,996,218 (GRCm39)	A960T	probably benign	Het
Sntb1	C	T	15: 55,655,472 (GRCm39)	C248Y	probably damaging	Het
Tbc1d5	T	C	17: 51,120,869 (GRCm39)	R416G	probably benign	Het
Tnfaip6	A	T	2: 51,941,047 (GRCm39)	Y196F	possibly damaging	Het
Tpo	A	G	12: 30,105,137 (GRCm39)	L911P	possibly damaging	Het
Try5	T	C	6: 41,289,361 (GRCm39)	R72G	probably damaging	Het
Vwa8	T	C	14: 79,219,838 (GRCm39)		probably null	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
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'- ATCAATGCCAAGTCGAGCG -3'
(R):5'- GCTTCATCCGTCCACTTGAG -3'

Sequencing Primer
(F):5'- CCTACATTTGGCAGCGATGCATG -3'
(R):5'- TCCACTTGAGCTGCCCGAG -3'

Posted On

2016-11-09