Mutagenetix > Incidental Mutation

Incidental Mutation 'R3894:Sh3glb2'

310430

Institutional Source

Beutler Lab

Gene Symbol

Sh3glb2

Ensembl Gene

ENSMUSG00000026860

Gene Name

SH3-domain GRB2-like endophilin B2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R3894 (G1)

Quality Score

203

Status

Not validated

Chromosome

Chromosomal Location

30234821-30249349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30245300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 60 (T60A)

Ref Sequence

ENSEMBL: ENSMUSP00000109250 (fasta)

Gene Model

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

AlphaFold

Q8R3V5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028214
AA Change: T60A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028214
Gene: ENSMUSG00000026860
AA Change: T60A

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: T60A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097788
Gene: ENSMUSG00000026860
AA Change: T60A

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: T60A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109250
Gene: ENSMUSG00000026860
AA Change: T60A

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

possibly damaging
Transcript: ENSMUST00000113621
AA Change: T60A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109251
Gene: ENSMUSG00000026860
AA Change: T60A

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: ENSMUST00000151145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151354

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163668
AA Change: T60A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131545
Gene: ENSMUSG00000026860
AA Change: T60A

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: ENSMUST00000140899

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1s1	A	G	7: 44,503,363 (GRCm39)	D180G	probably damaging	Het
Aldh1a7	A	T	19: 20,673,762 (GRCm39)	Y457*	probably null	Het
Alpk3	C	T	7: 80,728,138 (GRCm39)	P423S	possibly damaging	Het
Aox1	A	T	1: 58,373,837 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,913,966 (GRCm39)	T1316A	probably benign	Het
Cul3	C	A	1: 80,261,407 (GRCm39)	V273F	probably damaging	Het
Dnah1	G	T	14: 31,028,985 (GRCm39)	R582S	probably benign	Het
Fbxl2	T	C	9: 113,832,261 (GRCm39)	N51S	probably damaging	Het
Gapvd1	T	C	2: 34,618,488 (GRCm39)	D295G	probably benign	Het
Gdf7	A	G	12: 8,348,845 (GRCm39)	S151P	unknown	Het
Gm10277	T	C	11: 77,676,827 (GRCm39)		probably benign	Het
Hdac4	T	C	1: 91,898,690 (GRCm39)	E688G	possibly damaging	Het
Htr1d	A	G	4: 136,170,548 (GRCm39)	E259G	probably benign	Het
Ifi204	T	C	1: 173,576,774 (GRCm39)	H609R	possibly damaging	Het
Ift80	T	C	3: 68,825,332 (GRCm39)	D541G	probably damaging	Het
Il18r1	A	T	1: 40,514,034 (GRCm39)	H80L	possibly damaging	Het
Lrp4	G	A	2: 91,304,294 (GRCm39)	G158S	probably damaging	Het
Mesd	T	A	7: 83,546,993 (GRCm39)	L152H	probably damaging	Het
Mmut	G	A	17: 41,266,030 (GRCm39)	C531Y	probably damaging	Het
Morf4l1	A	T	9: 89,976,501 (GRCm39)	F276I	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myo15a	A	G	11: 60,395,145 (GRCm39)	T2480A	probably benign	Het
Or2a52	A	T	6: 43,144,192 (GRCm39)	I67F	probably benign	Het
Or2y15	G	A	11: 49,350,766 (GRCm39)	G87R	possibly damaging	Het
Or4f47	T	C	2: 111,972,359 (GRCm39)	I23T	probably benign	Het
Or4g17	C	A	2: 111,209,982 (GRCm39)	F212L	probably benign	Het
Or5k16	A	G	16: 58,736,702 (GRCm39)	F101L	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Ovgp1	A	G	3: 105,893,912 (GRCm39)		probably benign	Het
Pcbp4	A	T	9: 106,338,570 (GRCm39)	Q59L	possibly damaging	Het
Prg4	G	C	1: 150,330,510 (GRCm39)		probably benign	Het
Rad50	T	A	11: 53,569,697 (GRCm39)	I905L	probably benign	Het
Rp1l1	T	C	14: 64,266,756 (GRCm39)	S781P	probably benign	Het
Rps3	C	T	7: 99,129,103 (GRCm39)	R173H	probably benign	Het
Rtn3	T	A	19: 7,412,450 (GRCm39)	T86S	probably damaging	Het
Sdha	A	T	13: 74,482,510 (GRCm39)	S268T	probably benign	Het
Sgo2b	A	T	8: 64,381,767 (GRCm39)	V355E	possibly damaging	Het
Slc26a3	A	C	12: 31,514,719 (GRCm39)	Y513S	probably damaging	Het
Slc35b2	T	C	17: 45,877,368 (GRCm39)	V165A	probably benign	Het
Slco3a1	A	G	7: 73,934,361 (GRCm39)	W604R	probably damaging	Het
Tet2	A	G	3: 133,175,238 (GRCm39)	S1370P	possibly damaging	Het
Tmtc4	A	T	14: 123,158,731 (GRCm39)		probably null	Het
Tsga13	A	G	6: 30,889,198 (GRCm39)	V18A	probably benign	Het
Ugt2a3	T	C	5: 87,477,449 (GRCm39)	T317A	probably benign	Het
Zcchc4	A	T	5: 52,941,442 (GRCm39)	D79V	probably damaging	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
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
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

Predicted Primers

Posted On

2015-04-17