Mutagenetix > Incidental Mutation

Incidental Mutation 'R7568:Sowahc'

585587

Institutional Source

Beutler Lab

Gene Symbol

Sowahc

Ensembl Gene

ENSMUSG00000098188

Gene Name

sosondowah ankyrin repeat domain family member C

Synonyms

C820004L04Rik, Ankrd57

MMRRC Submission

045630-MU

Accession Numbers

Essential gene?

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

Stock #

R7568 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59057775-59062256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59059121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 419 (E419G)

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: E419G

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

SMART Domains

Protein: ENSMUSP00000138351
Gene: ENSMUSG00000098188
AA Change: E419G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,391,956 (GRCm39)	V97E	possibly damaging	Het
Actl7a	A	T	4: 56,744,498 (GRCm39)	T342S	probably damaging	Het
Alcam	A	G	16: 52,088,749 (GRCm39)	S554P	probably damaging	Het
Ano3	T	C	2: 110,780,638 (GRCm39)		probably benign	Het
Atad2b	T	A	12: 5,060,390 (GRCm39)		probably null	Het
Baz2a	T	C	10: 127,961,139 (GRCm39)	S1621P	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	GGTTCTGTGGTCACT	GGTTCTGTGGTCACTAGTTCTGTGGTCACT	3: 95,795,484 (GRCm39)		probably benign	Het
BC028528	GTCACTGGTTCTGTGGTCACTGGTTCTGTG	GTCACTGGTTCTGTGATCACTGGTTCTGTGGTCACTGGTTCTGTG	3: 95,795,463 (GRCm39)		probably benign	Het
Best1	T	A	19: 9,966,639 (GRCm39)		probably null	Het
Catip	G	T	1: 74,408,089 (GRCm39)	E474*	probably null	Het
Comp	A	G	8: 70,826,509 (GRCm39)	D28G	probably benign	Het
Crebbp	G	A	16: 3,944,353 (GRCm39)	R600W	probably benign	Het
Cyfip1	A	G	7: 55,521,997 (GRCm39)		probably null	Het
Ddr1	A	G	17: 35,995,174 (GRCm39)	S675P	probably damaging	Het
Dhtkd1	A	T	2: 5,926,898 (GRCm39)		probably null	Het
F2rl1	G	A	13: 95,650,522 (GRCm39)	A120V	probably damaging	Het
Fam136a	A	G	6: 86,342,784 (GRCm39)	N24D	probably benign	Het
Fbxw10	C	A	11: 62,765,994 (GRCm39)	Q755K	probably benign	Het
Fbxw16	C	A	9: 109,268,657 (GRCm39)	Q244H	possibly damaging	Het
Gabrg2	T	C	11: 41,807,119 (GRCm39)	K373E	probably benign	Het
Herc3	G	A	6: 58,820,795 (GRCm39)	V60I	probably benign	Het
Igkv19-93	T	A	6: 68,713,477 (GRCm39)	K51*	probably null	Het
Krt23	T	A	11: 99,383,626 (GRCm39)	K89*	probably null	Het
Mavs	A	G	2: 131,087,395 (GRCm39)	T298A	probably benign	Het
Mlec	T	C	5: 115,288,181 (GRCm39)	Y198C	probably damaging	Het
Ncam2	C	A	16: 81,386,689 (GRCm39)	N689K	probably benign	Het
Nfkbia	A	G	12: 55,538,546 (GRCm39)	I82T	probably damaging	Het
Or12d14-ps1	A	G	17: 37,673,496 (GRCm39)	I163V	probably benign	Het
Or12j2	A	G	7: 139,915,895 (GRCm39)	N40S	probably damaging	Het
Or7a35	A	T	10: 78,853,341 (GRCm39)	I62F	probably benign	Het
Or8b43	A	G	9: 38,360,942 (GRCm39)	Y258C	probably damaging	Het
Pom121l2	A	T	13: 22,166,796 (GRCm39)	I356F	probably benign	Het
Ppip5k1	A	T	2: 121,168,096 (GRCm39)	L719Q	probably damaging	Het
Satb1	A	T	17: 52,089,752 (GRCm39)	V365D	possibly damaging	Het
Scrn2	T	C	11: 96,921,712 (GRCm39)	Y61H	probably damaging	Het
Siglec1	C	T	2: 130,914,602 (GRCm39)	V1505M	probably damaging	Het
Slc2a10	A	G	2: 165,356,802 (GRCm39)	N154S	probably damaging	Het
Slc39a10	A	T	1: 46,874,290 (GRCm39)	H337Q	probably benign	Het
Slc39a12	T	A	2: 14,404,939 (GRCm39)		probably null	Het
Slc6a6	T	G	6: 91,701,832 (GRCm39)	L80R	probably damaging	Het
Slit1	T	C	19: 41,590,074 (GRCm39)	Y1404C	probably damaging	Het
Ssh1	T	C	5: 114,095,441 (GRCm39)		probably null	Het
Stab1	C	A	14: 30,874,552 (GRCm39)	C952F	probably damaging	Het
Stat5a	T	C	11: 100,765,850 (GRCm39)	M312T	possibly damaging	Het
Tex2	A	G	11: 106,439,562 (GRCm39)	I606T	unknown	Het
Tex55	T	C	16: 38,648,809 (GRCm39)	E100G	possibly damaging	Het
Vmn1r19	A	G	6: 57,381,813 (GRCm39)	H122R	possibly damaging	Het
Zfp959	A	G	17: 56,204,886 (GRCm39)	I308V	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
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
R6365:Sowahc	UTSW	10	59,059,349 (GRCm39)	missense	probably damaging	1.00
R7203:Sowahc	UTSW	10	59,058,100 (GRCm39)	missense	probably benign
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'- GGGAGAAAGGCCTCTCAGTATC -3'
(R):5'- AGATGAGTAGCCTCTAAGAGACC -3'

Sequencing Primer
(F):5'- GCCCTGGATGAAGATGAT -3'
(R):5'- ATGAGTAGCCTCTAAGAGACCTTTCC -3'

Posted On

2019-10-17