Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02724:Sh3glb2'

305099

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 #

IGL02724

Quality Score

Status

Chromosome

Chromosomal Location

30234821-30249349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30236368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 279 (G279D)

Ref Sequence

ENSEMBL: ENSMUSP00000097788 (fasta)

Gene Model

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

AlphaFold

Q8R3V5

Predicted Effect

probably benign
Transcript: ENSMUST00000028214
AA Change: G279D

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000028214
Gene: ENSMUSG00000026860
AA Change: G279D

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 benign
Transcript: ENSMUST00000100215
AA Change: G279D

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000097788
Gene: ENSMUSG00000026860
AA Change: G279D

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 benign
Transcript: ENSMUST00000113620
AA Change: G258D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000109250
Gene: ENSMUSG00000026860
AA Change: G258D

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 benign
Transcript: ENSMUST00000113621
AA Change: G283D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000109251
Gene: ENSMUSG00000026860
AA Change: G283D

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 benign
Transcript: ENSMUST00000163668
AA Change: G258D

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000131545
Gene: ENSMUSG00000026860
AA Change: G258D

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: ENSMUST00000140801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139963

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	G	2: 93,676,121 (GRCm39)	K85Q	probably damaging	Het
Acmsd	A	T	1: 127,676,822 (GRCm39)	T116S	possibly damaging	Het
Agrn	T	A	4: 156,257,264 (GRCm39)	K1189*	probably null	Het
Alk	T	C	17: 72,292,455 (GRCm39)	R508G	probably benign	Het
Arhgap23	T	A	11: 97,382,005 (GRCm39)	Y1123N	probably damaging	Het
Arl6ip5	G	T	6: 97,209,365 (GRCm39)	M133I	probably benign	Het
Axin2	G	A	11: 108,833,772 (GRCm39)	G573D	possibly damaging	Het
B4galt2	A	G	4: 117,734,075 (GRCm39)		probably null	Het
Baz2b	G	T	2: 59,807,718 (GRCm39)	D180E	possibly damaging	Het
Btnl6	G	T	17: 34,727,149 (GRCm39)	Y460*	probably null	Het
Cct7	A	T	6: 85,436,131 (GRCm39)	D14V	probably damaging	Het
Cd55	T	A	1: 130,377,149 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh2	C	T	18: 16,762,537 (GRCm39)	R526Q	probably benign	Het
Chi3l1	A	C	1: 134,116,981 (GRCm39)	E315A	probably damaging	Het
Cmya5	A	G	13: 93,233,163 (GRCm39)	S642P	probably benign	Het
Cpm	C	A	10: 117,465,756 (GRCm39)	T43K	probably damaging	Het
Cracd	T	C	5: 77,006,306 (GRCm39)	V889A	unknown	Het
Cyp8b1	A	T	9: 121,744,453 (GRCm39)	V293D	probably benign	Het
Dock1	T	G	7: 134,765,082 (GRCm39)	D1691E	probably benign	Het
Fasn	T	C	11: 120,700,659 (GRCm39)	D2120G	probably benign	Het
Gal3st4	T	C	5: 138,263,679 (GRCm39)	K440R	probably benign	Het
Gfpt1	A	T	6: 87,033,164 (GRCm39)	K130*	probably null	Het
Gpr26	T	C	7: 131,576,121 (GRCm39)		probably null	Het
Htr2a	A	T	14: 74,882,502 (GRCm39)	I163F	probably damaging	Het
Ift70a2	T	C	2: 75,806,682 (GRCm39)	E610G	probably benign	Het
Insrr	A	G	3: 87,716,879 (GRCm39)	D673G	probably benign	Het
Ipo8	G	T	6: 148,692,979 (GRCm39)	C636*	probably null	Het
Kirrel1	C	A	3: 86,997,780 (GRCm39)	E248*	probably null	Het
Lrp6	A	G	6: 134,461,228 (GRCm39)	V743A	probably damaging	Het
Lrrc45	C	A	11: 120,609,144 (GRCm39)	S374R	probably benign	Het
Map3k9	G	A	12: 81,771,516 (GRCm39)	P714S	probably benign	Het
Mrgprb8	T	A	7: 48,039,121 (GRCm39)	L264Q	possibly damaging	Het
Mroh4	C	A	15: 74,478,000 (GRCm39)	W902L	probably benign	Het
Nfat5	T	A	8: 108,085,367 (GRCm39)	D535E	probably damaging	Het
Nfatc3	T	C	8: 106,834,817 (GRCm39)	V713A	probably benign	Het
Npc1l1	C	T	11: 6,164,684 (GRCm39)	V1122M	possibly damaging	Het
Nsg2	A	G	11: 32,005,011 (GRCm39)		probably null	Het
Or4c15	C	A	2: 88,759,792 (GRCm39)	R289L	probably damaging	Het
Or8s10	T	A	15: 98,335,660 (GRCm39)	F103L	probably benign	Het
Pax9	A	T	12: 56,756,604 (GRCm39)	H314L	possibly damaging	Het
Phf21a	A	T	2: 92,190,592 (GRCm39)	I584F	probably damaging	Het
Pip5k1c	A	G	10: 81,149,296 (GRCm39)	E536G	probably benign	Het
Plekhm3	A	G	1: 64,834,276 (GRCm39)	S736P	probably damaging	Het
Ppp3cb	T	A	14: 20,573,645 (GRCm39)		probably null	Het
Prdm9	A	T	17: 15,783,522 (GRCm39)	S14R	probably benign	Het
Proc	A	G	18: 32,267,925 (GRCm39)	I71T	probably damaging	Het
Prom2	T	A	2: 127,380,577 (GRCm39)		probably benign	Het
Psd	T	C	19: 46,307,984 (GRCm39)	T675A	probably benign	Het
Rnf215	G	T	11: 4,090,305 (GRCm39)	R341L	probably damaging	Het
Ryr3	A	G	2: 112,732,921 (GRCm39)		probably null	Het
Sh2d7	C	A	9: 54,448,105 (GRCm39)	T42N	probably benign	Het
Slc25a46	A	G	18: 31,738,868 (GRCm39)		probably benign	Het
Snx17	T	C	5: 31,354,390 (GRCm39)	S167P	probably damaging	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sptbn4	G	A	7: 27,067,104 (GRCm39)	R1937C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Srsf11	T	C	3: 157,722,068 (GRCm39)		probably benign	Het
Taar7b	A	T	10: 23,876,581 (GRCm39)	M249L	probably benign	Het
Tle6	G	A	10: 81,435,898 (GRCm39)	Q6*	probably null	Het
Twnk	G	T	19: 44,996,557 (GRCm39)	R330L	probably damaging	Het
Unc13a	C	A	8: 72,108,949 (GRCm39)		probably benign	Het
Vmn2r107	A	G	17: 20,577,006 (GRCm39)	T335A	possibly damaging	Het
Wdtc1	A	T	4: 133,024,789 (GRCm39)	S469R	possibly damaging	Het
Ypel1	A	G	16: 16,921,466 (GRCm39)	Y73H	probably benign	Het
Zfp382	A	T	7: 29,833,162 (GRCm39)	Y271F	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
IGL03352:Sh3glb2	APN	2	30,235,363 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16