Mutagenetix > Incidental Mutation

Incidental Mutation 'R6440:Sgsm1'

518967

Institutional Source

Beutler Lab

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, D5Bwg1524e, 2410098H20Rik

MMRRC Submission

044578-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6440 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113391086-113458652 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 113426997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114932 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000048112

SMART Domains

Protein: ENSMUSP00000046544
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
TBC	559	1053	2.88e-29	SMART

Predicted Effect

probably null
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 null
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

probably null
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

noncoding transcript
Transcript: ENSMUST00000138266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147856

Predicted Effect

probably null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156340

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.7%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,101,744 (GRCm39)		probably null	Het
Adgrl3	C	T	5: 81,942,341 (GRCm39)	Q684*	probably null	Het
Ahi1	T	A	10: 20,835,981 (GRCm39)		probably benign	Het
Aox1	A	G	1: 58,133,631 (GRCm39)	T1070A	probably damaging	Het
B3gnt9	C	T	8: 105,980,531 (GRCm39)		probably null	Het
C3ar1	G	T	6: 122,827,467 (GRCm39)	A250E	probably damaging	Het
Caprin2	A	G	6: 148,771,143 (GRCm39)	F284L	probably damaging	Het
Cdc25a	T	C	9: 109,710,566 (GRCm39)	I90T	probably benign	Het
Cdh9	A	T	15: 16,823,509 (GRCm39)	T164S	probably benign	Het
Ces2a	C	T	8: 105,467,954 (GRCm39)	A528V	probably benign	Het
Cyp2c70	T	C	19: 40,145,250 (GRCm39)	N402S	possibly damaging	Het
F3	A	G	3: 121,518,686 (GRCm39)	E50G	probably damaging	Het
Fli1	A	T	9: 32,335,197 (GRCm39)	S412T	probably benign	Het
Flt1	T	A	5: 147,501,115 (GRCm39)	D1306V	possibly damaging	Het
Ggt7	T	C	2: 155,340,731 (GRCm39)	D424G	probably damaging	Het
Grm7	A	T	6: 111,230,981 (GRCm39)	N468I	probably damaging	Het
Htr5a	T	A	5: 28,055,870 (GRCm39)	V287E	probably damaging	Het
Map3k21	T	C	8: 126,637,876 (GRCm39)	V154A	probably damaging	Het
Muc16	A	G	9: 18,552,655 (GRCm39)	V4546A	probably benign	Het
Ncbp1	A	G	4: 46,147,516 (GRCm39)	Y121C	probably damaging	Het
Nckap1l	C	A	15: 103,379,659 (GRCm39)	Y315*	probably null	Het
Ntpcr	T	A	8: 126,471,981 (GRCm39)	S64T	probably damaging	Het
Or1e1c	A	T	11: 73,266,173 (GRCm39)	E202D	probably benign	Het
Or6c215	A	G	10: 129,637,837 (GRCm39)	S186P	probably damaging	Het
Or7e175	T	C	9: 20,048,490 (GRCm39)	F26S	probably damaging	Het
Pate9	T	A	9: 36,453,168 (GRCm39)	M1L	probably benign	Het
Pde4dip	A	G	3: 97,674,902 (GRCm39)	C5R	probably damaging	Het
Pgap2	T	A	7: 101,886,594 (GRCm39)		probably null	Het
Pik3r6	T	C	11: 68,424,522 (GRCm39)	W376R	probably benign	Het
Plekha2	T	C	8: 25,578,413 (GRCm39)	Y29C	probably damaging	Het
Pms1	T	C	1: 53,234,180 (GRCm39)	K779E	probably damaging	Het
Prss16	A	G	13: 22,187,330 (GRCm39)	V98A	probably damaging	Het
Robo2	C	T	16: 73,713,010 (GRCm39)	D1287N	probably benign	Het
Slc40a1	A	T	1: 45,964,422 (GRCm39)	M1K	probably null	Het
Smo	A	G	6: 29,756,813 (GRCm39)	H437R	possibly damaging	Het
Sult3a1	T	C	10: 33,746,198 (GRCm39)	Y173H	possibly damaging	Het
Svep1	T	A	4: 58,116,555 (GRCm39)	R898S	possibly damaging	Het
Synpo2l	A	G	14: 20,718,244 (GRCm39)	V7A	probably damaging	Het
Thsd1	C	T	8: 22,748,569 (GRCm39)	A427V	possibly damaging	Het
Tnfrsf17	G	A	16: 11,137,754 (GRCm39)	G164S	probably benign	Het
Zfp235	A	G	7: 23,840,040 (GRCm39)	K153R	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
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
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'- CAGGCCACTGTCACAGTTAC -3'
(R):5'- ATAGGTGGCTTCCTGAGGTC -3'

Sequencing Primer
(F):5'- TGGTGTCCTTACTAGCAGAATAAGG -3'
(R):5'- TGGCTTCCTGAGGTCTACCG -3'

Posted On

2018-05-24