Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Sgsm1'

657473

Institutional Source

Beutler Lab

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, D5Bwg1524e, 2410098H20Rik

MMRRC Submission

067924-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113391086-113458652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113411284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 814 (M814K)

Ref Sequence

ENSEMBL: ENSMUSP00000046544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048112] [ENSMUST00000057209] [ENSMUST00000112325] [ENSMUST00000154248]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048112
AA Change: M814K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: M814K

Domain	Start	End	E-Value	Type
RUN	127	187	6.52e-18	SMART
low complexity region	401	413	N/A	INTRINSIC
low complexity region	454	469	N/A	INTRINSIC
TBC	559	1053	2.88e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000057209
AA Change: M527K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: M527K

Domain	Start	End	E-Value	Type
low complexity region	114	126	N/A	INTRINSIC
low complexity region	167	182	N/A	INTRINSIC
TBC	272	766	2.88e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112325

SMART Domains

Protein: ENSMUSP00000107944
Gene: ENSMUSG00000042216

Domain	Start	End	E-Value	Type
RUN	127	187	6.52e-18	SMART
low complexity region	401	413	N/A	INTRINSIC
low complexity region	454	469	N/A	INTRINSIC
SCOP:d1fkma1	539	615	1e-6	SMART
Blast:TBC	559	675	1e-71	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000154248

SMART Domains

Protein: ENSMUSP00000114932
Gene: ENSMUSG00000042216

Domain	Start	End	E-Value	Type
RUN	127	187	6.52e-18	SMART
low complexity region	401	413	N/A	INTRINSIC
low complexity region	509	524	N/A	INTRINSIC
SCOP:d1fkma1	594	670	9e-7	SMART
Blast:TBC	614	706	3e-55	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	G	A	15: 101,108,720 (GRCm39)	V499M	possibly damaging	Het
Adam5	G	A	8: 25,294,475 (GRCm39)	Q375*	probably null	Het
Adgrf1	G	A	17: 43,606,055 (GRCm39)	E60K	probably benign	Het
Alb	T	C	5: 90,610,630 (GRCm39)	V70A	probably damaging	Het
Aph1b	T	A	9: 66,695,709 (GRCm39)		probably benign	Het
Aste1	G	A	9: 105,274,189 (GRCm39)	R143Q	possibly damaging	Het
Aste1	A	T	9: 105,274,995 (GRCm39)	T351S	probably damaging	Het
Bace2	T	A	16: 97,214,670 (GRCm39)	L286Q	probably damaging	Het
Bach1	G	A	16: 87,516,163 (GRCm39)	G235R	probably damaging	Het
Bpnt2	C	T	4: 4,769,376 (GRCm39)	M246I	probably benign	Het
Brwd1	A	T	16: 95,848,630 (GRCm39)	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,842,486 (GRCm39)		probably null	Het
Cdh22	T	A	2: 164,988,646 (GRCm39)	E236D	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Col11a1	A	G	3: 113,975,043 (GRCm39)	D1234G	probably benign	Het
Cplane1	C	A	15: 8,216,942 (GRCm39)	P720Q	possibly damaging	Het
Cpt2	A	G	4: 107,764,957 (GRCm39)	I269T	probably damaging	Het
Dcaf7	T	A	11: 105,945,619 (GRCm39)	S323T	probably benign	Het
Ddias	G	T	7: 92,508,608 (GRCm39)	Q436K	probably benign	Het
Dlec1	G	A	9: 118,972,335 (GRCm39)		probably null	Het
Dock5	T	A	14: 68,073,859 (GRCm39)	I294F	probably benign	Het
Fat2	A	T	11: 55,173,794 (GRCm39)	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,424,280 (GRCm39)	D626V	probably damaging	Het
Gm6563	A	G	19: 23,653,290 (GRCm39)	T27A	probably benign	Het
Hadhb	T	C	5: 30,373,568 (GRCm39)		probably null	Het
Hsph1	A	T	5: 149,551,029 (GRCm39)	W406R	probably null	Het
Ighv1-66	C	T	12: 115,557,002 (GRCm39)	G27R	possibly damaging	Het
Krt26	T	C	11: 99,228,426 (GRCm39)	E102G	probably damaging	Het
Krt34	T	A	11: 99,930,971 (GRCm39)		probably null	Het
Krt36	T	C	11: 99,993,635 (GRCm39)	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,518,827 (GRCm39)	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,633,802 (GRCm39)	N758S	probably damaging	Het
Mrtfb	A	T	16: 13,202,056 (GRCm39)		probably null	Het
Muc4	C	T	16: 32,574,421 (GRCm39)	T957I	probably benign	Het
Naip5	T	C	13: 100,358,743 (GRCm39)	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,678,859 (GRCm39)	V829E	probably benign	Het
Nmnat1	G	A	4: 149,557,827 (GRCm39)	L72F	possibly damaging	Het
Or4f14d	A	T	2: 111,960,330 (GRCm39)	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,286,407 (GRCm39)	V1161E	probably damaging	Het
Raver1	A	G	9: 21,001,576 (GRCm39)	Y86H	probably benign	Het
Recql4	G	T	15: 76,588,705 (GRCm39)	H1035Q	probably benign	Het
Sh3d19	T	G	3: 85,992,184 (GRCm39)	W71G	probably benign	Het
Sidt1	T	C	16: 44,065,529 (GRCm39)	Y759C	probably damaging	Het
Spg11	G	T	2: 121,943,560 (GRCm39)	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Ssc5d	A	T	7: 4,939,328 (GRCm39)	D588V	probably damaging	Het
Supt20	C	A	3: 54,614,537 (GRCm39)	T181K	probably damaging	Het
Szt2	A	T	4: 118,244,015 (GRCm39)	S1363R	probably benign	Het
Tbcel	G	A	9: 42,375,169 (GRCm39)		probably null	Het
Ube2e3	T	C	2: 78,749,158 (GRCm39)	L169P	probably damaging	Het
Wrn	A	G	8: 33,778,796 (GRCm39)	F595S	probably benign	Het
Zfp473	G	T	7: 44,382,323 (GRCm39)	P670Q	probably damaging	Het
Zw10	C	T	9: 48,986,299 (GRCm39)	A660V	probably benign	Het

Other mutations in Sgsm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Sgsm1	APN	5	113,392,930 (GRCm39)	missense	probably benign	0.00
IGL00503:Sgsm1	APN	5	113,424,008 (GRCm39)	missense	probably benign	0.00
IGL01377:Sgsm1	APN	5	113,424,048 (GRCm39)	splice site	probably benign
IGL01602:Sgsm1	APN	5	113,433,531 (GRCm39)	missense	possibly damaging	0.92
IGL01605:Sgsm1	APN	5	113,433,531 (GRCm39)	missense	possibly damaging	0.92
IGL01669:Sgsm1	APN	5	113,411,356 (GRCm39)	missense	probably benign
IGL01920:Sgsm1	APN	5	113,421,471 (GRCm39)	missense	probably damaging	1.00
IGL01951:Sgsm1	APN	5	113,434,633 (GRCm39)	splice site	probably benign
IGL02387:Sgsm1	APN	5	113,400,929 (GRCm39)	missense	possibly damaging	0.93
IGL02690:Sgsm1	APN	5	113,434,633 (GRCm39)	splice site	probably benign
IGL03177:Sgsm1	APN	5	113,398,859 (GRCm39)	missense	probably damaging	1.00
IGL03186:Sgsm1	APN	5	113,432,887 (GRCm39)	missense	probably benign	0.00
IGL03398:Sgsm1	APN	5	113,403,182 (GRCm39)	missense	possibly damaging	0.67
caliente	UTSW	5	113,428,328 (GRCm39)	intron	probably benign
Chili	UTSW	5	113,405,989 (GRCm39)	intron	probably benign
pimiento	UTSW	5	113,411,123 (GRCm39)	missense	probably benign	0.15
R0048:Sgsm1	UTSW	5	113,416,616 (GRCm39)	missense	probably damaging	1.00
R0058:Sgsm1	UTSW	5	113,432,953 (GRCm39)	missense	probably damaging	1.00
R0058:Sgsm1	UTSW	5	113,432,953 (GRCm39)	missense	probably damaging	1.00
R0082:Sgsm1	UTSW	5	113,436,702 (GRCm39)	missense	probably benign	0.01
R0085:Sgsm1	UTSW	5	113,427,136 (GRCm39)	splice site	probably benign
R0099:Sgsm1	UTSW	5	113,422,226 (GRCm39)	splice site	probably benign
R0269:Sgsm1	UTSW	5	113,434,795 (GRCm39)	critical splice acceptor site	probably null
R0310:Sgsm1	UTSW	5	113,411,571 (GRCm39)	missense	probably benign	0.00
R0325:Sgsm1	UTSW	5	113,436,701 (GRCm39)	missense	probably damaging	0.99
R0420:Sgsm1	UTSW	5	113,411,625 (GRCm39)	missense	probably benign	0.16
R0594:Sgsm1	UTSW	5	113,458,428 (GRCm39)	missense	probably benign	0.00
R0599:Sgsm1	UTSW	5	113,392,894 (GRCm39)	missense	probably damaging	1.00
R0631:Sgsm1	UTSW	5	113,432,989 (GRCm39)	splice site	probably benign
R0744:Sgsm1	UTSW	5	113,427,050 (GRCm39)	missense	probably benign	0.38
R0833:Sgsm1	UTSW	5	113,427,050 (GRCm39)	missense	probably benign	0.38
R0919:Sgsm1	UTSW	5	113,406,708 (GRCm39)	missense	probably damaging	1.00
R0944:Sgsm1	UTSW	5	113,413,740 (GRCm39)	missense	probably benign	0.40
R1169:Sgsm1	UTSW	5	113,427,351 (GRCm39)	missense	probably damaging	1.00
R1232:Sgsm1	UTSW	5	113,421,577 (GRCm39)	nonsense	probably null
R1473:Sgsm1	UTSW	5	113,411,123 (GRCm39)	missense	probably benign	0.15
R1535:Sgsm1	UTSW	5	113,411,135 (GRCm39)	missense	possibly damaging	0.93
R1796:Sgsm1	UTSW	5	113,421,483 (GRCm39)	missense	possibly damaging	0.58
R1878:Sgsm1	UTSW	5	113,411,381 (GRCm39)	missense	probably damaging	0.97
R2084:Sgsm1	UTSW	5	113,433,266 (GRCm39)	missense	probably damaging	1.00
R3855:Sgsm1	UTSW	5	113,411,125 (GRCm39)	missense	probably benign	0.01
R3856:Sgsm1	UTSW	5	113,411,125 (GRCm39)	missense	probably benign	0.01
R4294:Sgsm1	UTSW	5	113,433,270 (GRCm39)	missense	probably damaging	1.00
R4373:Sgsm1	UTSW	5	113,405,989 (GRCm39)	intron	probably benign
R4558:Sgsm1	UTSW	5	113,405,977 (GRCm39)	intron	probably benign
R4610:Sgsm1	UTSW	5	113,403,173 (GRCm39)	missense	probably damaging	1.00
R4667:Sgsm1	UTSW	5	113,407,913 (GRCm39)	critical splice donor site	probably null
R4838:Sgsm1	UTSW	5	113,430,492 (GRCm39)	missense	probably damaging	1.00
R4890:Sgsm1	UTSW	5	113,428,328 (GRCm39)	intron	probably benign
R4992:Sgsm1	UTSW	5	113,430,486 (GRCm39)	missense	possibly damaging	0.89
R5366:Sgsm1	UTSW	5	113,398,905 (GRCm39)	missense	possibly damaging	0.91
R5776:Sgsm1	UTSW	5	113,398,823 (GRCm39)	missense	probably damaging	1.00
R5813:Sgsm1	UTSW	5	113,398,822 (GRCm39)	missense	probably damaging	1.00
R6000:Sgsm1	UTSW	5	113,434,704 (GRCm39)	missense	probably damaging	1.00
R6354:Sgsm1	UTSW	5	113,430,522 (GRCm39)	missense	probably damaging	0.99
R6440:Sgsm1	UTSW	5	113,426,997 (GRCm39)	critical splice donor site	probably null
R6831:Sgsm1	UTSW	5	113,428,246 (GRCm39)	missense	probably damaging	0.97
R7307:Sgsm1	UTSW	5	113,421,512 (GRCm39)	missense	probably benign	0.00
R7309:Sgsm1	UTSW	5	113,416,712 (GRCm39)	splice site	probably null
R7387:Sgsm1	UTSW	5	113,411,566 (GRCm39)	missense	probably damaging	1.00
R7439:Sgsm1	UTSW	5	113,422,187 (GRCm39)	missense	probably damaging	0.99
R7485:Sgsm1	UTSW	5	113,427,501 (GRCm39)	splice site	probably null
R7624:Sgsm1	UTSW	5	113,422,201 (GRCm39)	nonsense	probably null
R7632:Sgsm1	UTSW	5	113,423,948 (GRCm39)	missense	possibly damaging	0.54
R7669:Sgsm1	UTSW	5	113,400,890 (GRCm39)	missense	probably damaging	1.00
R7727:Sgsm1	UTSW	5	113,422,193 (GRCm39)	missense	possibly damaging	0.95
R7732:Sgsm1	UTSW	5	113,414,196 (GRCm39)	missense	probably benign	0.26
R7961:Sgsm1	UTSW	5	113,430,510 (GRCm39)	missense	probably damaging	1.00
R8088:Sgsm1	UTSW	5	113,403,134 (GRCm39)	missense	probably damaging	1.00
R8213:Sgsm1	UTSW	5	113,398,877 (GRCm39)	missense	probably damaging	1.00
R8278:Sgsm1	UTSW	5	113,407,958 (GRCm39)	missense	probably damaging	0.98
R8796:Sgsm1	UTSW	5	113,411,123 (GRCm39)	missense	probably benign	0.15
R8816:Sgsm1	UTSW	5	113,435,097 (GRCm39)	missense	probably damaging	1.00
R8904:Sgsm1	UTSW	5	113,421,495 (GRCm39)	missense	probably benign	0.00
R8905:Sgsm1	UTSW	5	113,421,495 (GRCm39)	missense	probably benign	0.00
R8952:Sgsm1	UTSW	5	113,432,861 (GRCm39)	missense	probably damaging	1.00
R9046:Sgsm1	UTSW	5	113,436,725 (GRCm39)	missense	probably damaging	1.00
R9162:Sgsm1	UTSW	5	113,430,577 (GRCm39)	missense	probably damaging	1.00
R9249:Sgsm1	UTSW	5	113,428,201 (GRCm39)	missense	possibly damaging	0.86
R9375:Sgsm1	UTSW	5	113,422,139 (GRCm39)	missense	unknown
R9377:Sgsm1	UTSW	5	113,436,741 (GRCm39)	missense	probably damaging	1.00
R9461:Sgsm1	UTSW	5	113,423,898 (GRCm39)	critical splice donor site	probably null
R9662:Sgsm1	UTSW	5	113,427,097 (GRCm39)	missense	probably benign	0.03
R9722:Sgsm1	UTSW	5	113,428,207 (GRCm39)	missense	possibly damaging	0.75
R9726:Sgsm1	UTSW	5	113,458,418 (GRCm39)	missense	probably benign
Z1177:Sgsm1	UTSW	5	113,430,576 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTACAGAATAGGTGACTCCACTG -3'
(R):5'- TAGCACTGAAGACAGCGTC -3'

Sequencing Primer
(F):5'- TCCACTGGAGGACACAGG -3'
(R):5'- AGACAGCGTCTTGGATGC -3'

Posted On

2021-01-18