Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03352:Sh3glb2'

419760

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sh3glb2

Ensembl Gene

ENSMUSG00000026860

Gene Name

SH3-domain GRB2-like endophilin B2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

IGL03352

Quality Score

Status

Chromosome

Chromosomal Location

30234821-30249349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30235363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 370 (V370A)

Ref Sequence

ENSEMBL: ENSMUSP00000131545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028214] [ENSMUST00000064447] [ENSMUST00000100215] [ENSMUST00000113620] [ENSMUST00000113621] [ENSMUST00000163668]

AlphaFold

Q8R3V5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028214
AA Change: V386A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028214
Gene: ENSMUSG00000026860
AA Change: V386A

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

probably benign
Transcript: ENSMUST00000064447

SMART Domains

Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533

Domain	Start	End	E-Value	Type
Pfam:Nup188	31	941	9.3e-213	PFAM
low complexity region	1020	1035	N/A	INTRINSIC
low complexity region	1307	1320	N/A	INTRINSIC
low complexity region	1330	1360	N/A	INTRINSIC
low complexity region	1696	1709	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100215
AA Change: V391A

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

SMART Domains

Protein: ENSMUSP00000097788
Gene: ENSMUSG00000026860
AA Change: V391A

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: V365A

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

SMART Domains

Protein: ENSMUSP00000109250
Gene: ENSMUSG00000026860
AA Change: V365A

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: V395A

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

SMART Domains

Protein: ENSMUSP00000109251
Gene: ENSMUSG00000026860
AA Change: V395A

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: ENSMUST00000133421

Predicted Effect

probably damaging
Transcript: ENSMUST00000163668
AA Change: V370A

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

SMART Domains

Protein: ENSMUSP00000131545
Gene: ENSMUSG00000026860
AA Change: V370A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140899

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoah	A	G	13: 21,184,213 (GRCm39)	S426G	probably benign	Het
Arap3	T	C	18: 38,114,355 (GRCm39)		probably benign	Het
Arhgap45	T	A	10: 79,866,585 (GRCm39)	N1029K	probably damaging	Het
Arhgef10l	A	T	4: 140,311,242 (GRCm39)	M1K	probably null	Het
Bloc1s6	T	C	2: 122,584,638 (GRCm39)	L71P	probably damaging	Het
Ccer1	G	T	10: 97,529,439 (GRCm39)	R34M	unknown	Het
Cd44	T	C	2: 102,675,759 (GRCm39)		probably benign	Het
Col17a1	T	C	19: 47,669,814 (GRCm39)		probably null	Het
Cspp1	A	G	1: 10,117,662 (GRCm39)	E38G	possibly damaging	Het
Dock10	A	T	1: 80,584,013 (GRCm39)		probably benign	Het
Dsg3	A	T	18: 20,660,689 (GRCm39)	M343L	probably benign	Het
Eif3l	G	A	15: 78,961,251 (GRCm39)		probably benign	Het
Fcrl1	T	C	3: 87,292,398 (GRCm39)	L150P	probably benign	Het
Flg2	T	G	3: 93,109,801 (GRCm39)	S610A	unknown	Het
Grin3b	C	T	10: 79,809,615 (GRCm39)	R374C	probably damaging	Het
H2-Oa	A	T	17: 34,313,377 (GRCm39)	I143F	probably damaging	Het
Itgae	C	T	11: 73,022,556 (GRCm39)	P924S	probably damaging	Het
Itpr2	T	A	6: 146,058,602 (GRCm39)	D2521V	probably damaging	Het
Itprid2	T	A	2: 79,475,445 (GRCm39)	M468K	probably damaging	Het
Laptm4a	G	A	12: 8,981,719 (GRCm39)	G143D	probably benign	Het
Lrp6	T	C	6: 134,456,726 (GRCm39)	Y846C	probably damaging	Het
Mcm10	A	T	2: 4,999,407 (GRCm39)	S749T	probably damaging	Het
Nemf	T	C	12: 69,378,679 (GRCm39)	N548D	probably damaging	Het
Nlrp4e	T	A	7: 23,020,251 (GRCm39)	L246Q	probably damaging	Het
Nsun6	A	T	2: 15,001,157 (GRCm39)	C466*	probably null	Het
Olfm2	T	C	9: 20,580,019 (GRCm39)	D252G	probably damaging	Het
Or10j5	A	C	1: 172,784,850 (GRCm39)	M163L	probably benign	Het
Or14j9	T	A	17: 37,874,681 (GRCm39)	I174F	probably damaging	Het
Or2h1	G	A	17: 37,404,311 (GRCm39)	L152F	probably benign	Het
Or9i14	T	C	19: 13,792,292 (GRCm39)	I221V	probably damaging	Het
Pcdhb14	C	T	18: 37,582,057 (GRCm39)	R388C	possibly damaging	Het
Piwil1	C	T	5: 128,828,136 (GRCm39)	T712I	probably benign	Het
Piwil4	G	T	9: 14,637,183 (GRCm39)	T377K	probably damaging	Het
Prg3	T	C	2: 84,823,370 (GRCm39)	F182L	probably damaging	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Retsat	T	C	6: 72,575,666 (GRCm39)	V19A	probably damaging	Het
Rpl21-ps4	A	T	14: 11,227,760 (GRCm38)		noncoding transcript	Het
Skint4	G	T	4: 112,022,883 (GRCm39)	W459C	possibly damaging	Het
Slco1a1	T	A	6: 141,857,611 (GRCm39)	R573S	probably benign	Het
Smgc	T	C	15: 91,744,876 (GRCm39)	S694P	probably damaging	Het
Spaca6	A	G	17: 18,058,401 (GRCm39)	Y7C	probably damaging	Het
Spn	T	C	7: 126,736,178 (GRCm39)	T110A	probably benign	Het
Tepsin	C	T	11: 119,982,703 (GRCm39)	V456I	probably benign	Het
Tex261	C	T	6: 83,748,249 (GRCm39)	R171Q	possibly damaging	Het
Tmem184a	A	T	5: 139,798,755 (GRCm39)	F65I	probably damaging	Het
Tpm3	G	A	3: 89,995,052 (GRCm39)		probably null	Het
Tubgcp2	T	A	7: 139,580,940 (GRCm39)	H671L	probably benign	Het
Unc13b	T	G	4: 43,237,110 (GRCm39)	D3393E	possibly damaging	Het
Vcan	T	A	13: 89,853,125 (GRCm39)	M612L	probably benign	Het
Vmn1r180	C	A	7: 23,652,077 (GRCm39)	S80*	probably null	Het
Vmn1r64	C	T	7: 5,887,070 (GRCm39)	V158I	probably benign	Het
Vps13d	C	T	4: 144,894,072 (GRCm39)	V496I	possibly damaging	Het
Wee2	T	G	6: 40,429,589 (GRCm39)		probably null	Het
Zfp804b	T	C	5: 6,820,039 (GRCm39)	N972S	probably benign	Het

Other mutations in Sh3glb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01638:Sh3glb2	APN	2	30,235,862 (GRCm39)	missense	possibly damaging	0.73
IGL02189:Sh3glb2	APN	2	30,235,351 (GRCm39)	splice site	probably null
IGL02724:Sh3glb2	APN	2	30,236,368 (GRCm39)	missense	probably benign	0.02
R1162:Sh3glb2	UTSW	2	30,240,600 (GRCm39)	missense	probably damaging	1.00
R1517:Sh3glb2	UTSW	2	30,244,987 (GRCm39)	missense	probably damaging	1.00
R1725:Sh3glb2	UTSW	2	30,240,679 (GRCm39)	nonsense	probably null
R3894:Sh3glb2	UTSW	2	30,245,300 (GRCm39)	missense	probably damaging	0.97
R4523:Sh3glb2	UTSW	2	30,240,711 (GRCm39)	missense	probably damaging	0.98
R5587:Sh3glb2	UTSW	2	30,244,863 (GRCm39)	critical splice donor site	probably null
R5933:Sh3glb2	UTSW	2	30,240,401 (GRCm39)	splice site	probably null
R6215:Sh3glb2	UTSW	2	30,235,805 (GRCm39)	missense	possibly damaging	0.88
R6679:Sh3glb2	UTSW	2	30,240,631 (GRCm39)	missense	probably damaging	1.00
R6998:Sh3glb2	UTSW	2	30,245,333 (GRCm39)	missense	probably damaging	1.00
R8499:Sh3glb2	UTSW	2	30,249,216 (GRCm39)	start codon destroyed	probably null	1.00
R8500:Sh3glb2	UTSW	2	30,249,216 (GRCm39)	start codon destroyed	probably null	1.00
R9380:Sh3glb2	UTSW	2	30,238,625 (GRCm39)	missense	probably damaging	0.96
R9594:Sh3glb2	UTSW	2	30,236,672 (GRCm39)	missense	probably damaging	1.00
R9595:Sh3glb2	UTSW	2	30,236,672 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02