Mutagenetix > Incidental Mutation

Incidental Mutation 'R4523:Sh3glb2'

334288

Institutional Source

Beutler Lab

Gene Symbol

Sh3glb2

Ensembl Gene

ENSMUSG00000026860

Gene Name

SH3-domain GRB2-like endophilin B2

Synonyms

SPAS-1; mKIAA1848

MMRRC Submission

042004-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R4523 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30344809-30359337 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30350699 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 118 (V118E)

Ref Sequence

ENSEMBL: ENSMUSP00000109251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028214] [ENSMUST00000100215] [ENSMUST00000113620] [ENSMUST00000113621] [ENSMUST00000163668]

AlphaFold

Q8R3V5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028214
AA Change: V118E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028214
Gene: ENSMUSG00000026860
AA Change: V118E

Domain	Start	End	E-Value	Type
BAR	7	280	8.25e-92	SMART
low complexity region	288	334	N/A	INTRINSIC
SH3	338	395	2.16e-12	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100215
AA Change: V118E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097788
Gene: ENSMUSG00000026860
AA Change: V118E

Domain	Start	End	E-Value	Type
BAR	7	280	4.42e-92	SMART
low complexity region	293	339	N/A	INTRINSIC
SH3	343	400	2.16e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113620
AA Change: V118E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109250
Gene: ENSMUSG00000026860
AA Change: V118E

Domain	Start	End	E-Value	Type
BAR	7	259	3.85e-92	SMART
low complexity region	267	313	N/A	INTRINSIC
SH3	317	374	2.16e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113621
AA Change: V118E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109251
Gene: ENSMUSG00000026860
AA Change: V118E

Domain	Start	End	E-Value	Type
BAR	7	284	5.36e-91	SMART
low complexity region	297	343	N/A	INTRINSIC
SH3	347	404	2.16e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151145

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163668
AA Change: V118E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131545
Gene: ENSMUSG00000026860
AA Change: V118E

Domain	Start	End	E-Value	Type
BAR	7	259	2.06e-92	SMART
low complexity region	272	318	N/A	INTRINSIC
SH3	322	379	2.16e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151354

Meta Mutation Damage Score

0.8960

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	G	T	5: 67,667,600	T796K	probably benign	Het
Atr	T	C	9: 95,862,863	S78P	probably damaging	Het
BC017643	A	G	11: 121,224,108		probably benign	Het
Calb2	C	T	8: 110,148,509		probably null	Het
Ccdc88c	G	T	12: 100,913,332	S1843R	possibly damaging	Het
Cdca7	A	G	2: 72,479,698	S77G	probably damaging	Het
Cnot2	C	T	10: 116,581,474		probably benign	Het
Cstf2t	T	A	19: 31,083,082	V6D	possibly damaging	Het
Dido1	T	C	2: 180,672,292	I852V	probably damaging	Het
Dmgdh	C	T	13: 93,688,630	Q154*	probably null	Het
Dnah12	T	C	14: 26,770,022	F1138S	probably damaging	Het
Dnah12	G	A	14: 26,876,958	A998T	possibly damaging	Het
Dusp5	T	G	19: 53,537,601	Y225D	probably damaging	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Fam126a	T	C	5: 23,965,122	T410A	probably benign	Het
Fam193a	G	A	5: 34,443,371	D601N	probably benign	Het
Fbxo41	A	G	6: 85,484,042	I228T	probably damaging	Het
Fmo2	T	C	1: 162,887,708	K115R	probably benign	Het
Gak	G	T	5: 108,576,566	Q1093K	probably benign	Het
Gm5277	G	T	3: 78,892,186		noncoding transcript	Het
Gm7173	A	T	X: 79,509,995	N291K	possibly damaging	Het
Hgsnat	A	G	8: 25,968,361		probably null	Het
Map3k3	G	A	11: 106,148,868	R278H	probably damaging	Het
Mrvi1	T	C	7: 110,923,841	M338V	probably benign	Het
Muc4	T	C	16: 32,736,336		probably benign	Het
Nectin3	C	A	16: 46,448,590	R483L	probably benign	Het
Nop2	G	T	6: 125,133,552	R47L	probably damaging	Het
Ntng1	A	G	3: 109,934,996	S154P	probably damaging	Het
Olfml2b	T	C	1: 170,669,222	I474T	probably benign	Het
Olfr1054	C	G	2: 86,333,300	D19H	probably benign	Het
Olfr843	T	C	9: 19,249,229	T57A	probably damaging	Het
Optc	G	T	1: 133,903,754	T138K	possibly damaging	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pard3	C	T	8: 127,398,627	P421S	probably benign	Het
Pcdhb22	G	T	18: 37,520,421	E647D	probably benign	Het
Pclo	A	G	5: 14,679,992		probably benign	Het
Prkce	G	T	17: 86,490,750		probably null	Het
Prr12	T	C	7: 45,048,523	D656G	unknown	Het
Ptprk	A	T	10: 28,466,052	D485V	probably damaging	Het
Ptprn2	T	C	12: 116,876,000	L381P	probably damaging	Het
Rnf144b	T	C	13: 47,207,537	I51T	probably benign	Het
Rpl10l	T	C	12: 66,283,738	D207G	probably benign	Het
Sipa1l2	C	T	8: 125,492,424	G58D	probably damaging	Het
Slc5a4a	C	T	10: 76,148,362	A46V	probably damaging	Het
Tepp	T	A	8: 95,313,010	Y18*	probably null	Het
Tgm7	C	A	2: 121,098,588		probably null	Het
Tjap1	A	G	17: 46,258,792	V424A	probably benign	Het
Trpm6	A	T	19: 18,796,500	I414F	probably damaging	Het
Tsr3	C	G	17: 25,241,749	D196E	probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Vmn2r72	T	A	7: 85,751,926	H95L	probably benign	Het
Vmn2r97	T	A	17: 18,929,071	N240K	probably benign	Het
Xdh	C	A	17: 73,898,344	G1042V	probably damaging	Het
Zcchc4	A	G	5: 52,784,067	D68G	probably damaging	Het

Other mutations in Sh3glb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01638:Sh3glb2	APN	2	30345850	missense	possibly damaging	0.73
IGL02189:Sh3glb2	APN	2	30345339	splice site	probably null
IGL02724:Sh3glb2	APN	2	30346356	missense	probably benign	0.02
IGL03352:Sh3glb2	APN	2	30345351	missense	probably damaging	1.00
R1162:Sh3glb2	UTSW	2	30350588	missense	probably damaging	1.00
R1517:Sh3glb2	UTSW	2	30354975	missense	probably damaging	1.00
R1725:Sh3glb2	UTSW	2	30350667	nonsense	probably null
R3894:Sh3glb2	UTSW	2	30355288	missense	probably damaging	0.97
R5587:Sh3glb2	UTSW	2	30354851	critical splice donor site	probably null
R5933:Sh3glb2	UTSW	2	30350389	splice site	probably null
R6215:Sh3glb2	UTSW	2	30345793	missense	possibly damaging	0.88
R6679:Sh3glb2	UTSW	2	30350619	missense	probably damaging	1.00
R6998:Sh3glb2	UTSW	2	30355321	missense	probably damaging	1.00
R8499:Sh3glb2	UTSW	2	30359204	start codon destroyed	probably null	1.00
R8500:Sh3glb2	UTSW	2	30359204	start codon destroyed	probably null	1.00
R9380:Sh3glb2	UTSW	2	30348613	missense	probably damaging	0.96
R9594:Sh3glb2	UTSW	2	30346660	missense	probably damaging	1.00
R9595:Sh3glb2	UTSW	2	30346660	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCCTGGGATGAAAACCTATGTG -3'
(R):5'- GTGTGTTCTTGAGACACCAGG -3'

Sequencing Primer
(F):5'- TGAAAACCTATGTGTAGAGTTCGG -3'
(R):5'- TCATGCCCTGCCTACAAGG -3'

Posted On

2015-08-18