Mutagenetix > Incidental Mutation

Incidental Mutation 'R9162:Sgsm1'

695774

Institutional Source

Beutler Lab

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, D5Bwg1524e, 2410098H20Rik

MMRRC Submission

068943-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9162 (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 113430577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 269 (D269E)

Ref Sequence

ENSEMBL: ENSMUSP00000046544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048112] [ENSMUST00000057209] [ENSMUST00000112324] [ENSMUST00000112325] [ENSMUST00000154248]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000048112
AA Change: D269E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: D269E

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

SMART Domains

Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216

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: ENSMUST00000112324

SMART Domains

Protein: ENSMUSP00000107943
Gene: ENSMUSG00000042216

Domain	Start	End	E-Value	Type
low complexity region	114	126	N/A	INTRINSIC
low complexity region	167	182	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112325
AA Change: D269E

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107944
Gene: ENSMUSG00000042216
AA Change: D269E

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
AA Change: D269E

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114932
Gene: ENSMUSG00000042216
AA Change: D269E

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: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	A	G	5: 24,611,732 (GRCm39)	D516G	probably damaging	Het
Abcd2	A	G	15: 91,058,926 (GRCm39)	M506T	probably benign	Het
Abhd17a	T	C	10: 80,422,577 (GRCm39)	Y35C	probably damaging	Het
Adamts12	A	G	15: 11,311,721 (GRCm39)	N1326S	probably benign	Het
Arhgef18	T	C	8: 3,414,645 (GRCm39)	Y8H	probably benign	Het
Arsi	T	C	18: 61,050,569 (GRCm39)	V484A	probably damaging	Het
Bsn	T	C	9: 107,987,883 (GRCm39)	D2623G	unknown	Het
Cul9	A	C	17: 46,837,529 (GRCm39)	D1005E	probably benign	Het
Dchs1	A	C	7: 105,414,732 (GRCm39)	V770G	probably damaging	Het
Dcst2	C	A	3: 89,274,088 (GRCm39)	S213*	probably null	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dysf	C	T	6: 84,089,215 (GRCm39)	T926I	probably damaging	Het
Ext1	G	A	15: 53,208,504 (GRCm39)	R86*	probably null	Het
Fat1	T	C	8: 45,404,352 (GRCm39)	F368L	probably damaging	Het
Flnc	T	C	6: 29,455,860 (GRCm39)	C2097R	probably damaging	Het
Git1	T	A	11: 77,396,331 (GRCm39)	I565N	probably benign	Het
Gpr22	A	G	12: 31,758,724 (GRCm39)	V466A	probably benign	Het
Hacd4	T	A	4: 88,338,017 (GRCm39)	T194S	probably benign	Het
Hectd4	A	G	5: 121,445,042 (GRCm39)	K93R	possibly damaging	Het
Kcnv1	T	C	15: 44,972,450 (GRCm39)	S478G	possibly damaging	Het
Kmt2a	T	C	9: 44,759,363 (GRCm39)	S829G	probably benign	Het
Lnp1	A	T	16: 56,737,844 (GRCm39)	H81Q	possibly damaging	Het
Lrp1	C	T	10: 127,441,368 (GRCm39)	A252T	probably benign	Het
Msl2	T	C	9: 100,978,928 (GRCm39)	V434A	probably benign	Het
Myo1g	T	A	11: 6,460,897 (GRCm39)	I716F	probably damaging	Het
Or52e19	A	T	7: 102,958,927 (GRCm39)		probably benign	Het
Or56a42-ps1	A	T	7: 104,777,454 (GRCm39)	Y53*	probably null	Het
Or5b12	A	T	19: 12,897,024 (GRCm39)	Y216*	probably null	Het
Or7e175	A	G	9: 20,040,457 (GRCm39)	I6V	probably benign	Het
Pappa	T	A	4: 65,123,040 (GRCm39)	S792T	probably damaging	Het
Pcdhb17	T	C	18: 37,620,168 (GRCm39)	S653P	probably damaging	Het
Plcd4	A	G	1: 74,601,362 (GRCm39)	K574R	probably benign	Het
Scyl3	C	A	1: 163,773,891 (GRCm39)	Q372K	probably benign	Het
Siah2	C	A	3: 58,599,104 (GRCm39)	G45C	unknown	Het
Slc4a11	T	A	2: 130,534,214 (GRCm39)	D28V	possibly damaging	Het
Slco1a8	T	A	6: 141,939,453 (GRCm39)	E200V	probably damaging	Het
Socs4	T	A	14: 47,528,301 (GRCm39)	M412K	probably damaging	Het
Spata31e1	T	G	13: 49,939,310 (GRCm39)	Q800P	possibly damaging	Het
Spef2	T	G	15: 9,602,017 (GRCm39)	N1415T	unknown	Het
Stat6	A	G	10: 127,487,089 (GRCm39)	K199E	probably damaging	Het
Syndig1l	A	G	12: 84,727,291 (GRCm39)	F91S	probably damaging	Het
Tank	C	A	2: 61,480,432 (GRCm39)	Q324K	possibly damaging	Het
Tars3	G	A	7: 65,332,518 (GRCm39)	E540K	probably benign	Het
Tial1	A	G	7: 128,050,415 (GRCm39)	V70A	possibly damaging	Het
Tmem87b	C	T	2: 128,681,150 (GRCm39)	T358I	probably benign	Het
Ttyh3	G	A	5: 140,621,820 (GRCm39)	A42V	possibly damaging	Het
Xrn1	T	C	9: 95,915,660 (GRCm39)	I1261T	probably benign	Het
Zfp229	T	C	17: 21,964,495 (GRCm39)	S242P	probably damaging	Het
Zmym2	T	A	14: 57,163,361 (GRCm39)	C638S	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
R8480:Sgsm1	UTSW	5	113,411,284 (GRCm39)	missense	probably benign	0.01
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
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'- AGTTCACACAACAGGCAGGC -3'
(R):5'- GAGGGATTCTGGGTAATATCTACAGG -3'

Sequencing Primer
(F):5'- TCTGAAGAGAGCATCTCCGTG -3'
(R):5'- TCTGGGTAATATCTACAGGATGGAC -3'

Posted On

2022-02-07