Mutagenetix > Incidental Mutation

Incidental Mutation 'R7445:Soga3'

577237

Institutional Source

Beutler Lab

Gene Symbol

Soga3

Ensembl Gene

ENSMUSG00000038916

Gene Name

SOGA family member 3

Synonyms

6330407J23Rik

MMRRC Submission

045521-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R7445 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29143839-29199630 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29197003 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 764 (S764P)

Ref Sequence

ENSEMBL: ENSMUSP00000090293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092629] [ENSMUST00000217011]

AlphaFold

Q6NZL0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092629
AA Change: S764P

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090293
Gene: ENSMUSG00000038916
AA Change: S764P

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
low complexity region	72	81	N/A	INTRINSIC
low complexity region	86	101	N/A	INTRINSIC
low complexity region	110	126	N/A	INTRINSIC
low complexity region	158	185	N/A	INTRINSIC
low complexity region	214	247	N/A	INTRINSIC
SCOP:d1fxkc_	354	488	2e-4	SMART
Blast:BRLZ	356	384	6e-10	BLAST
Pfam:DUF3166	519	613	1.8e-34	PFAM
Pfam:DUF3166	639	727	4.6e-34	PFAM
transmembrane domain	917	939	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217011

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,619 (GRCm38)	S233T	probably damaging	Het
1700034E13Rik	T	A	18: 52,660,481 (GRCm38)	C29S	probably damaging	Het
1700061G19Rik	G	A	17: 56,882,973 (GRCm38)	R333Q	possibly damaging	Het
9130409I23Rik	A	G	1: 181,055,012 (GRCm38)	N113S	possibly damaging	Het
Ank3	A	G	10: 69,992,124 (GRCm38)	T2208A		Het
Ap4s1	T	C	12: 51,738,641 (GRCm38)	L132P	probably damaging	Het
Ascl4	C	T	10: 85,928,500 (GRCm38)	R4C	probably benign	Het
Brd7	A	T	8: 88,361,708 (GRCm38)	Y18N	probably damaging	Het
Cacna2d3	A	G	14: 29,058,618 (GRCm38)	S648P	possibly damaging	Het
Camta1	C	T	4: 151,144,291 (GRCm38)	E695K	possibly damaging	Het
Ccdc28b	A	G	4: 129,622,607 (GRCm38)	F53L	probably benign	Het
Chaf1a	A	G	17: 56,062,170 (GRCm38)	D467G	possibly damaging	Het
Cnnm1	G	A	19: 43,440,821 (GRCm38)	R126H	possibly damaging	Het
Cog5	T	G	12: 31,919,672 (GRCm38)	S730R	possibly damaging	Het
Col11a1	A	T	3: 114,193,929 (GRCm38)	E1374D	unknown	Het
Csmd1	A	G	8: 16,158,254 (GRCm38)	I1229T	possibly damaging	Het
Dnajc30	T	C	5: 135,064,378 (GRCm38)	L43P	probably damaging	Het
Eif3f	C	T	7: 108,934,658 (GRCm38)	T76M	unknown	Het
Ermap	G	A	4: 119,188,710 (GRCm38)	T42I	unknown	Het
Gpd1l	C	T	9: 114,920,674 (GRCm38)	G25S	probably damaging	Het
Heatr1	G	T	13: 12,431,038 (GRCm38)	W1632L	possibly damaging	Het
Ice1	T	C	13: 70,596,167 (GRCm38)	D29G		Het
Ipo8	T	C	6: 148,789,817 (GRCm38)	D685G	probably benign	Het
Klra10	T	C	6: 130,275,856 (GRCm38)	T152A	probably benign	Het
Lmntd1	T	A	6: 145,429,967 (GRCm38)	S82C	probably damaging	Het
Maip1	T	C	1: 57,407,031 (GRCm38)	S87P	possibly damaging	Het
Mapkapk2	A	G	1: 131,097,519 (GRCm38)	S3P	unknown	Het
Mei4	A	G	9: 81,890,239 (GRCm38)	Y35C	possibly damaging	Het
Ms4a14	T	G	19: 11,302,972 (GRCm38)	K741Q	probably benign	Het
Naip2	A	C	13: 100,161,782 (GRCm38)	I582S	probably benign	Het
Ncapg2	A	G	12: 116,419,268 (GRCm38)	I240V	possibly damaging	Het
Ncbp1	T	A	4: 46,149,914 (GRCm38)	M145K	probably damaging	Het
Nmur2	A	G	11: 56,032,940 (GRCm38)	F263L	probably damaging	Het
Ntrk2	A	G	13: 58,846,762 (GRCm38)	E164G	probably benign	Het
Olfr48	T	A	2: 89,844,272 (GRCm38)	T234S	probably damaging	Het
Olfr705	A	G	7: 106,873,342 (GRCm38)	L301S	possibly damaging	Het
Olfr785	A	T	10: 129,409,885 (GRCm38)	D173V	probably benign	Het
P3h2	T	A	16: 25,985,065 (GRCm38)	Y317F	probably damaging	Het
Pcmtd1	C	T	1: 7,120,420 (GRCm38)	R38C	probably damaging	Het
Pcyox1	T	C	6: 86,391,679 (GRCm38)	T286A	possibly damaging	Het
Pdxk	T	C	10: 78,447,967 (GRCm38)	D131G	probably benign	Het
Ppl	T	C	16: 5,089,068 (GRCm38)	D1121G	probably damaging	Het
Prkra	T	C	2: 76,633,598 (GRCm38)	D240G	probably benign	Het
Ptgs1	C	A	2: 36,245,210 (GRCm38)	N395K	probably benign	Het
Ptprq	A	T	10: 107,590,959 (GRCm38)	Y1572N	probably damaging	Het
Pyroxd1	A	T	6: 142,358,501 (GRCm38)	H326L	probably benign	Het
Rapgef5	A	G	12: 117,755,969 (GRCm38)	D778G	probably benign	Het
Rbm46	T	A	3: 82,864,210 (GRCm38)	E366V	probably damaging	Het
Rnd1	G	T	15: 98,670,669 (GRCm38)	H209Q	probably benign	Het
Rnf122	A	T	8: 31,118,500 (GRCm38)	D32V	possibly damaging	Het
Samd4b	G	A	7: 28,406,456 (GRCm38)	P446S	probably benign	Het
Slco1a5	C	A	6: 142,259,008 (GRCm38)	A187S	possibly damaging	Het
Smarca4	G	A	9: 21,686,247 (GRCm38)	V1436M	probably damaging	Het
Smok2a	G	A	17: 13,226,639 (GRCm38)	G368R	possibly damaging	Het
Smok3c	T	A	5: 138,064,495 (GRCm38)	H81Q	probably damaging	Het
Stk16	T	C	1: 75,213,652 (GRCm38)	V245A	probably damaging	Het
Svep1	A	T	4: 58,094,122 (GRCm38)	N1505K	possibly damaging	Het
Tigd4	G	A	3: 84,595,164 (GRCm38)	A463T	probably benign	Het
Tmem117	T	C	15: 94,714,918 (GRCm38)	F112L	probably benign	Het
Tmem72	A	G	6: 116,698,330 (GRCm38)	I67T	probably benign	Het
Tnik	A	G	3: 28,663,909 (GRCm38)		probably null	Het
Trav14-2	A	G	14: 53,641,058 (GRCm38)	Q66R	probably damaging	Het
Trpv6	T	A	6: 41,621,342 (GRCm38)	D677V	probably damaging	Het
Vgll4	C	T	6: 114,862,196 (GRCm38)	S278N	unknown	Het
Wdfy4	C	T	14: 33,070,618 (GRCm38)	W2157*	probably null	Het

Other mutations in Soga3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Soga3	APN	10	29,196,473 (GRCm38)	nonsense	probably null
IGL00929:Soga3	APN	10	29,148,292 (GRCm38)	missense	probably damaging	0.99
IGL01450:Soga3	APN	10	29,196,323 (GRCm38)	missense	probably damaging	1.00
IGL01462:Soga3	APN	10	29,148,258 (GRCm38)	missense	probably damaging	1.00
IGL03062:Soga3	APN	10	29,198,949 (GRCm38)	missense	probably damaging	1.00
R0534:Soga3	UTSW	10	29,180,956 (GRCm38)	splice site	probably benign
R1355:Soga3	UTSW	10	29,147,322 (GRCm38)	missense	probably benign	0.01
R1450:Soga3	UTSW	10	29,147,740 (GRCm38)	missense	probably damaging	1.00
R1654:Soga3	UTSW	10	29,146,935 (GRCm38)	splice site	probably null
R1680:Soga3	UTSW	10	29,196,839 (GRCm38)	missense	probably damaging	1.00
R2134:Soga3	UTSW	10	29,196,399 (GRCm38)	nonsense	probably null
R2570:Soga3	UTSW	10	29,146,765 (GRCm38)	missense	possibly damaging	0.88
R4395:Soga3	UTSW	10	29,147,355 (GRCm38)	missense	probably benign
R4859:Soga3	UTSW	10	29,150,394 (GRCm38)	missense	probably benign	0.00
R4883:Soga3	UTSW	10	29,196,541 (GRCm38)	missense	probably damaging	1.00
R4884:Soga3	UTSW	10	29,196,541 (GRCm38)	missense	probably damaging	1.00
R5288:Soga3	UTSW	10	29,196,770 (GRCm38)	missense	probably benign	0.00
R5335:Soga3	UTSW	10	29,147,106 (GRCm38)	missense	probably benign
R5384:Soga3	UTSW	10	29,196,770 (GRCm38)	missense	probably benign	0.00
R5385:Soga3	UTSW	10	29,196,770 (GRCm38)	missense	probably benign	0.00
R5457:Soga3	UTSW	10	29,196,724 (GRCm38)	missense	probably benign	0.01
R5813:Soga3	UTSW	10	29,150,244 (GRCm38)	missense	probably damaging	1.00
R5819:Soga3	UTSW	10	29,197,273 (GRCm38)	missense	probably benign	0.00
R5950:Soga3	UTSW	10	29,143,648 (GRCm38)	unclassified	probably benign
R6567:Soga3	UTSW	10	29,147,283 (GRCm38)	missense	probably benign	0.00
R7312:Soga3	UTSW	10	29,197,244 (GRCm38)	missense	probably damaging	1.00
R7313:Soga3	UTSW	10	29,196,879 (GRCm38)	nonsense	probably null
R7481:Soga3	UTSW	10	29,196,523 (GRCm38)	missense	probably damaging	1.00
R7609:Soga3	UTSW	10	29,148,228 (GRCm38)	missense	probably damaging	1.00
R7616:Soga3	UTSW	10	29,146,578 (GRCm38)	start gained	probably benign
R7665:Soga3	UTSW	10	29,196,397 (GRCm38)	missense	probably damaging	1.00
R8125:Soga3	UTSW	10	29,196,898 (GRCm38)	missense	probably damaging	1.00
R8153:Soga3	UTSW	10	29,148,239 (GRCm38)	nonsense	probably null
R8220:Soga3	UTSW	10	29,147,268 (GRCm38)	nonsense	probably null
R8260:Soga3	UTSW	10	29,148,274 (GRCm38)	missense	possibly damaging	0.91
R8749:Soga3	UTSW	10	29,196,725 (GRCm38)	missense	possibly damaging	0.95
R9225:Soga3	UTSW	10	29,196,331 (GRCm38)	nonsense	probably null
R9364:Soga3	UTSW	10	29,196,779 (GRCm38)	missense	probably damaging	0.98
R9484:Soga3	UTSW	10	29,196,973 (GRCm38)	missense	probably damaging	1.00
R9518:Soga3	UTSW	10	29,146,752 (GRCm38)	missense	probably benign
R9546:Soga3	UTSW	10	29,146,809 (GRCm38)	missense	probably damaging	0.98
R9688:Soga3	UTSW	10	29,196,695 (GRCm38)	missense	possibly damaging	0.78
R9742:Soga3	UTSW	10	29,148,398 (GRCm38)	missense	probably benign	0.22
R9748:Soga3	UTSW	10	29,148,402 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGACAATGCCAAGACCGAG -3'
(R):5'- ATGAGCCGATCGATGGTCTTG -3'

Sequencing Primer
(F):5'- CCCTGCAGGAGGAGCTGAAG -3'
(R):5'- ATCGATGGTCTTGCCCAGG -3'

Posted On

2019-10-07