Mutagenetix > Incidental Mutation

Incidental Mutation 'R8902:Sgsm3'

678265

Institutional Source

Beutler Lab

Gene Symbol

Sgsm3

Ensembl Gene

ENSMUSG00000042303

Gene Name

small G protein signaling modulator 3

Synonyms

1810012I01Rik, Rutbc3, CIP85

MMRRC Submission

068759-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R8902 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80861966-80896491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80890796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 117 (H117Y)

Ref Sequence

ENSEMBL: ENSMUSP00000122543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000137004] [ENSMUST00000137255] [ENSMUST00000139517] [ENSMUST00000143147] [ENSMUST00000228971] [ENSMUST00000229727]

AlphaFold

Q8VCZ6

PDB Structure

Solution structure of the SH3 domain of mouse RUN and TBC1 domain containing 3 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000137004

Predicted Effect

probably benign
Transcript: ENSMUST00000137255

Predicted Effect

probably damaging
Transcript: ENSMUST00000139517
AA Change: H117Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122543
Gene: ENSMUSG00000042303
AA Change: H117Y

Domain	Start	End	E-Value	Type
TBC	111	328	3.6e-62	SMART
low complexity region	381	391	N/A	INTRINSIC
SH3	483	538	6.34e-19	SMART
RUN	654	716	1.29e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143147

Predicted Effect

probably benign
Transcript: ENSMUST00000154904

SMART Domains

Protein: ENSMUSP00000118050
Gene: ENSMUSG00000042303

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
SH3	114	169	6.34e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000228971

Predicted Effect

probably benign
Transcript: ENSMUST00000229727

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	G	T	4: 155,990,371 (GRCm39)	R819L	possibly damaging	Het
App	A	G	16: 84,876,767 (GRCm39)	V208A	unknown	Het
C1qtnf7	G	A	5: 43,773,204 (GRCm39)	E168K	probably damaging	Het
Cacna1e	C	T	1: 154,349,632 (GRCm39)	M757I	probably benign	Het
Casp1	A	G	9: 5,299,333 (GRCm39)	T21A	probably benign	Het
Ccdc92	C	T	5: 124,912,705 (GRCm39)	A275T	possibly damaging	Het
Ccr4	T	A	9: 114,325,620 (GRCm39)		probably benign	Het
Cct8l1	C	T	5: 25,722,908 (GRCm39)	T541I	probably benign	Het
Chrng	G	T	1: 87,138,397 (GRCm39)	R396L	possibly damaging	Het
Cmip	A	G	8: 118,103,925 (GRCm39)	T50A	probably damaging	Het
Ddx21	C	A	10: 62,434,486 (GRCm39)	S91I	probably benign	Het
Dnmbp	A	G	19: 43,890,225 (GRCm39)	L514P	probably benign	Het
Echs1	A	T	7: 139,690,499 (GRCm39)	M191K	probably damaging	Het
Eps8	A	G	6: 137,489,175 (GRCm39)	S408P	probably damaging	Het
Fat2	T	C	11: 55,200,896 (GRCm39)	E726G	probably damaging	Het
Fpr2	T	C	17: 18,113,190 (GRCm39)	I62T	probably benign	Het
Gemin4	G	A	11: 76,102,848 (GRCm39)	Q638*	probably null	Het
Glrb	A	T	3: 80,769,285 (GRCm39)	N147K	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gtf2i	T	C	5: 134,278,720 (GRCm39)	N637S	probably benign	Het
Hivep3	A	G	4: 119,953,937 (GRCm39)	E751G	possibly damaging	Het
Ifnb1	G	T	4: 88,440,547 (GRCm39)	N155K	probably damaging	Het
Igf2bp3	G	T	6: 49,065,365 (GRCm39)	T509K	probably damaging	Het
Igsf10	T	C	3: 59,243,633 (GRCm39)	M234V	probably benign	Het
Iqgap2	C	T	13: 95,818,711 (GRCm39)	A682T	probably benign	Het
Ireb2	T	G	9: 54,799,786 (GRCm39)	M409R	probably benign	Het
Kat6b	C	T	14: 21,719,629 (GRCm39)	T1327I	probably benign	Het
Krtap5-5	A	G	7: 141,783,630 (GRCm39)	S7P	unknown	Het
Lelp1	A	T	3: 92,042,978 (GRCm39)	C24S	unknown	Het
Malrd1	A	T	2: 16,260,145 (GRCm39)	K2122*	probably null	Het
Mei1	C	A	15: 81,954,212 (GRCm39)	R6S	unknown	Het
Meis3	T	A	7: 15,911,887 (GRCm39)	I119N	probably benign	Het
Mmp20	T	C	9: 7,639,288 (GRCm39)	V152A	probably benign	Het
Muc6	T	A	7: 141,233,791 (GRCm39)	I797F	possibly damaging	Het
Myo7a	C	T	7: 97,741,820 (GRCm39)	E439K	probably damaging	Het
Neb	C	A	2: 52,133,222 (GRCm39)	A3439S	probably damaging	Het
Nfe2l1	T	A	11: 96,708,620 (GRCm39)	D715V	unknown	Het
Obscn	C	A	11: 59,026,762 (GRCm39)	R147L	probably benign	Het
Or14j5	T	A	17: 38,162,101 (GRCm39)	M206K	probably benign	Het
Or2m12	T	A	16: 19,105,383 (GRCm39)	I37F	probably damaging	Het
Or2y1b	A	T	11: 49,209,206 (GRCm39)	T278S	probably benign	Het
Or4e5	G	A	14: 52,728,010 (GRCm39)	T137I	probably benign	Het
Or5d38	A	G	2: 87,954,778 (GRCm39)	S184P	probably damaging	Het
Plg	T	A	17: 12,629,790 (GRCm39)	F608Y	probably benign	Het
Plppr1	C	A	4: 49,319,836 (GRCm39)	P154Q	probably damaging	Het
Ppp2r5e	T	C	12: 75,500,570 (GRCm39)	K441R	probably benign	Het
Prkaca	T	C	8: 84,703,714 (GRCm39)	S5P	probably benign	Het
Rbl1	T	C	2: 157,041,420 (GRCm39)	K69R	probably benign	Het
Rbpms2	T	C	9: 65,558,351 (GRCm39)	I129T	probably benign	Het
Serpina1c	A	T	12: 103,865,117 (GRCm39)	N176K	probably damaging	Het
Sphkap	A	T	1: 83,256,685 (GRCm39)	C355S	probably benign	Het
Stpg2	T	A	3: 139,004,170 (GRCm39)	V249E	probably damaging	Het
Syt2	T	C	1: 134,675,391 (GRCm39)	V414A	possibly damaging	Het
Tiam2	T	C	17: 3,527,471 (GRCm39)	I1050T	probably benign	Het
Tmem131	A	T	1: 36,848,046 (GRCm39)	I1134N	probably damaging	Het
Ttc23	A	G	7: 67,342,761 (GRCm39)	E293G		Het
Ttc41	C	A	10: 86,548,865 (GRCm39)	R20S	probably benign	Het
Ttn	C	T	2: 76,571,133 (GRCm39)	V26587M	probably damaging	Het
Ugt2a2	T	C	5: 87,608,270 (GRCm39)	K523R	possibly damaging	Het
Unc13c	A	G	9: 73,656,830 (GRCm39)	C1124R	probably damaging	Het
Ush2a	T	A	1: 188,175,281 (GRCm39)	N1126K	probably damaging	Het
Usp36	A	T	11: 118,165,840 (GRCm39)	L326Q	probably damaging	Het
Zfp568	T	C	7: 29,713,307 (GRCm39)	M120T	probably benign	Het
Zfp944	T	C	17: 22,558,761 (GRCm39)	D162G	probably benign	Het

Other mutations in Sgsm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01330:Sgsm3	APN	15	80,895,053 (GRCm39)	unclassified	probably benign
IGL03370:Sgsm3	APN	15	80,895,855 (GRCm39)	critical splice acceptor site	probably null
R0109:Sgsm3	UTSW	15	80,893,667 (GRCm39)	missense	probably damaging	0.99
R0267:Sgsm3	UTSW	15	80,890,803 (GRCm39)	missense	probably damaging	0.96
R0382:Sgsm3	UTSW	15	80,892,515 (GRCm39)	nonsense	probably null
R0441:Sgsm3	UTSW	15	80,893,971 (GRCm39)	missense	possibly damaging	0.87
R0631:Sgsm3	UTSW	15	80,895,937 (GRCm39)	makesense	probably null
R0905:Sgsm3	UTSW	15	80,895,546 (GRCm39)	missense	probably damaging	1.00
R1364:Sgsm3	UTSW	15	80,892,143 (GRCm39)	missense	probably damaging	0.98
R1515:Sgsm3	UTSW	15	80,894,457 (GRCm39)	missense	probably benign	0.08
R2226:Sgsm3	UTSW	15	80,888,069 (GRCm39)	missense	probably damaging	0.96
R2227:Sgsm3	UTSW	15	80,888,069 (GRCm39)	missense	probably damaging	0.96
R2414:Sgsm3	UTSW	15	80,890,946 (GRCm39)	missense	probably benign	0.10
R2508:Sgsm3	UTSW	15	80,888,073 (GRCm39)	critical splice donor site	probably null
R4240:Sgsm3	UTSW	15	80,895,983 (GRCm39)	unclassified	probably benign
R4302:Sgsm3	UTSW	15	80,894,502 (GRCm39)	unclassified	probably benign
R4899:Sgsm3	UTSW	15	80,890,980 (GRCm39)	missense	probably benign	0.13
R5234:Sgsm3	UTSW	15	80,892,145 (GRCm39)	missense	probably damaging	1.00
R5288:Sgsm3	UTSW	15	80,892,200 (GRCm39)	missense	probably benign	0.00
R5385:Sgsm3	UTSW	15	80,892,200 (GRCm39)	missense	probably benign	0.00
R5386:Sgsm3	UTSW	15	80,892,200 (GRCm39)	missense	probably benign	0.00
R5682:Sgsm3	UTSW	15	80,895,661 (GRCm39)	critical splice acceptor site	probably null
R6052:Sgsm3	UTSW	15	80,893,464 (GRCm39)	missense	probably benign
R6349:Sgsm3	UTSW	15	80,892,547 (GRCm39)	missense	probably benign	0.00
R6453:Sgsm3	UTSW	15	80,895,515 (GRCm39)	missense	probably damaging	0.96
R6486:Sgsm3	UTSW	15	80,895,546 (GRCm39)	missense	probably damaging	1.00
R6591:Sgsm3	UTSW	15	80,893,063 (GRCm39)	missense	possibly damaging	0.94
R6642:Sgsm3	UTSW	15	80,893,901 (GRCm39)	missense	probably damaging	0.99
R6691:Sgsm3	UTSW	15	80,893,063 (GRCm39)	missense	possibly damaging	0.94
R6897:Sgsm3	UTSW	15	80,893,095 (GRCm39)	missense	probably benign	0.00
R7038:Sgsm3	UTSW	15	80,892,576 (GRCm39)	missense	possibly damaging	0.86
R7390:Sgsm3	UTSW	15	80,893,021 (GRCm39)	missense	possibly damaging	0.77
R7572:Sgsm3	UTSW	15	80,891,667 (GRCm39)	missense	possibly damaging	0.78
R7730:Sgsm3	UTSW	15	80,892,927 (GRCm39)	missense	probably damaging	1.00
R7851:Sgsm3	UTSW	15	80,894,954 (GRCm39)	missense	probably damaging	1.00
R8186:Sgsm3	UTSW	15	80,893,643 (GRCm39)	missense	possibly damaging	0.90
R8949:Sgsm3	UTSW	15	80,894,612 (GRCm39)	missense	probably damaging	1.00
R9025:Sgsm3	UTSW	15	80,892,182 (GRCm39)	missense	probably damaging	1.00
R9664:Sgsm3	UTSW	15	80,890,935 (GRCm39)	missense	probably benign	0.00
R9774:Sgsm3	UTSW	15	80,890,673 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGGATGCAGCCAGATGACAG -3'
(R):5'- CATGTTACCTGTTTGGCAGC -3'

Sequencing Primer
(F):5'- GCCAGATGACAGGCTCAC -3'
(R):5'- TGGCAGCGATGGTCTCATC -3'

Posted On

2021-08-02