Mutagenetix > Incidental Mutation

Incidental Mutation 'R0919:Sgsm1'

81580

Institutional Source

Beutler Lab

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, D5Bwg1524e, 2410098H20Rik

MMRRC Submission

039069-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113391086-113458652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113406708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 923 (V923I)

Ref Sequence

ENSEMBL: ENSMUSP00000046544 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000048112
AA Change: V923I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: V923I

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

possibly damaging
Transcript: ENSMUST00000057209
AA Change: V636I

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: V636I

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

noncoding transcript
Transcript: ENSMUST00000145708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147856

Meta Mutation Damage Score

0.3499

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.6%

Validation Efficiency

96% (43/45)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	C	A	18: 65,440,544 (GRCm39)	C283F	probably benign	Het
Anapc1	T	C	2: 128,459,651 (GRCm39)	R1803G	probably benign	Het
Anapc4	T	C	5: 53,012,979 (GRCm39)	V423A	probably benign	Het
Arfgef3	A	G	10: 18,465,483 (GRCm39)	I2120T	possibly damaging	Het
Btaf1	T	A	19: 36,968,143 (GRCm39)	H1109Q	probably benign	Het
Cfap418	A	G	4: 10,882,462 (GRCm39)	T124A	probably benign	Het
Cfap70	G	A	14: 20,454,232 (GRCm39)	P851S	probably benign	Het
Clcf1	T	A	19: 4,272,252 (GRCm39)	L103Q	probably damaging	Het
Col11a2	T	A	17: 34,278,124 (GRCm39)	V1032E	possibly damaging	Het
Cyp2c38	T	G	19: 39,393,113 (GRCm39)	D318A	probably benign	Het
Dbpht2	A	G	12: 74,345,774 (GRCm39)		noncoding transcript	Het
Dhx34	A	C	7: 15,935,883 (GRCm39)	V893G	probably damaging	Het
Fsip2	T	A	2: 82,815,828 (GRCm39)	C3854S	possibly damaging	Het
Htr1a	T	C	13: 105,581,344 (GRCm39)	Y195H	probably damaging	Het
Insr	A	G	8: 3,208,769 (GRCm39)	S1231P	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kpna4	A	T	3: 68,993,161 (GRCm39)		probably benign	Het
Or52d13	A	G	7: 103,110,019 (GRCm39)	I132T	probably damaging	Het
Or52e8	A	T	7: 104,624,519 (GRCm39)	Y228*	probably null	Het
Or5m3	A	G	2: 85,838,984 (GRCm39)	Y288C	possibly damaging	Het
Osbpl7	G	A	11: 96,946,927 (GRCm39)	R239H	possibly damaging	Het
Prkce	G	A	17: 86,937,588 (GRCm39)	V674I	probably benign	Het
Prkrip1	T	C	5: 136,226,685 (GRCm39)	M52V	possibly damaging	Het
Sash1	A	G	10: 8,605,843 (GRCm39)	M849T	probably benign	Het
Scaf8	T	C	17: 3,247,395 (GRCm39)	L906S	probably damaging	Het
Sfmbt2	T	C	2: 10,582,382 (GRCm39)	L676P	probably benign	Het
Slc38a3	A	T	9: 107,533,158 (GRCm39)	L305Q	probably damaging	Het
Slc44a5	A	G	3: 153,949,223 (GRCm39)	Y232C	probably damaging	Het
Spag17	A	T	3: 99,979,259 (GRCm39)		probably benign	Het
Synm	T	C	7: 67,385,095 (GRCm39)	I414V	probably damaging	Het
Tbc1d12	C	T	19: 38,902,493 (GRCm39)	H551Y	possibly damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Trpc7	C	T	13: 56,970,462 (GRCm39)		probably benign	Het
Trpm7	G	A	2: 126,673,158 (GRCm39)	R532C	probably damaging	Het
Ttn	T	A	2: 76,777,086 (GRCm39)	K1485*	probably null	Het
Txn2	T	C	15: 77,811,949 (GRCm39)	D69G	probably damaging	Het
U2af2	C	T	7: 5,072,433 (GRCm39)		probably benign	Het
Ubn1	T	C	16: 4,882,255 (GRCm39)	Y239H	probably damaging	Het
Ubtf	A	G	11: 102,200,603 (GRCm39)		probably benign	Het
Usp49	T	A	17: 47,983,376 (GRCm39)	V127D	probably benign	Het
Washc2	C	T	6: 116,185,225 (GRCm39)	R20W	probably damaging	Het
Zscan10	T	C	17: 23,828,981 (GRCm39)	S476P	probably damaging	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
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
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'- TGGTAGACCTCATCCTGAGACACTG -3'
(R):5'- TGATCCCATGATAGCACCCCAGAG -3'

Sequencing Primer
(F):5'- GACACAAGGATGTCTCATGTTGC -3'
(R):5'- AGAGTCCTGTGCTCAGCAATG -3'

Posted On

2013-11-07