Mutagenetix > Incidental Mutations

Incidental Mutation 'R5018:Sh3gl2'

389046

Institutional Source

Beutler Lab

Gene Symbol

Sh3gl2

Ensembl Gene

ENSMUSG00000028488

Gene Name

SH3-domain GRB2-like 2

Synonyms

B930049H17Rik, endophilin A1, 9530001L19Rik, endophilin I, Sh3d2a, EEN-B1

MMRRC Submission

042609-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5018 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85205126-85639195 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 85391054 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030212] [ENSMUST00000107188] [ENSMUST00000107189]

Predicted Effect

probably benign
Transcript: ENSMUST00000030212

SMART Domains

Protein: ENSMUSP00000030212
Gene: ENSMUSG00000028488

Domain	Start	End	E-Value	Type
BAR	5	242	2.13e-94	SMART
SH3	293	348	3.19e-24	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000107188
AA Change: E339G

SMART Domains

Protein: ENSMUSP00000102806
Gene: ENSMUSG00000028488
AA Change: E339G

Domain	Start	End	E-Value	Type
BAR	5	242	2.13e-94	SMART
SH3	293	351	4.78e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107189

SMART Domains

Protein: ENSMUSP00000102807
Gene: ENSMUSG00000028488

Domain	Start	End	E-Value	Type
BAR	5	242	2.13e-94	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133109

SMART Domains

Protein: ENSMUSP00000117573
Gene: ENSMUSG00000028488

Domain	Start	End	E-Value	Type
BAR	1	180	3.83e-37	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

98% (49/50)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are normal and fertile. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmission and abnormal synaptic vesicle recycling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,571,779	F245I	probably damaging	Het
Agbl5	G	A	5: 30,903,059	R141Q	probably damaging	Het
Als2cr12	A	G	1: 58,690,950	V67A	probably benign	Het
Alx4	G	T	2: 93,677,419	G353V	probably damaging	Het
Apol7b	A	G	15: 77,424,716	F61L	probably benign	Het
Aunip	T	A	4: 134,523,617		probably null	Het
Bfsp1	C	A	2: 143,862,882	R17L	possibly damaging	Het
Birc6	T	A	17: 74,640,059	D2926E	probably damaging	Het
Dmwd	A	G	7: 19,078,119	D166G	probably damaging	Het
Dnah10	T	C	5: 124,762,196	S1233P	possibly damaging	Het
Dnah11	G	T	12: 118,130,728	N868K	probably benign	Het
Eea1	T	C	10: 96,011,037	V393A	probably benign	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Fyttd1	A	G	16: 32,902,417		probably null	Het
Hal	T	C	10: 93,507,551		probably null	Het
Hhat	A	T	1: 192,595,038	L371Q	probably damaging	Het
Hpse2	A	G	19: 43,384,824	F122S	possibly damaging	Het
Kif21b	A	G	1: 136,172,234	I1509V	probably benign	Het
Klhl20	T	C	1: 161,101,586	D334G	probably damaging	Het
Macf1	C	T	4: 123,385,599	D3870N	probably damaging	Het
Nlrc5	C	T	8: 94,525,452	A1867V	probably damaging	Het
Nr1h5	A	G	3: 102,947,795	L330P	probably damaging	Het
Olfr1513	A	C	14: 52,349,279	C256G	possibly damaging	Het
Pcdh15	T	G	10: 74,643,775	S573A	possibly damaging	Het
Polr1c	G	T	17: 46,247,709		probably benign	Het
Scd4	T	A	19: 44,337,609	M134K	probably benign	Het
Sin3a	T	A	9: 57,110,891	S865T	probably benign	Het
Slitrk3	G	A	3: 73,050,512	T309I	probably benign	Het
Sspo	G	A	6: 48,455,700	E837K	probably damaging	Het
Stag1	A	G	9: 100,951,619	D1095G	probably benign	Het
Trat1	A	T	16: 48,734,805	L188*	probably null	Het
Ubn1	A	G	16: 5,063,725	D207G	probably damaging	Het
Ugp2	A	G	11: 21,331,052	Y219H	probably damaging	Het
Ugt2b1	G	T	5: 86,925,962	Y179*	probably null	Het
Vmn2r27	T	A	6: 124,224,182	D272V	probably benign	Het
Vmn2r3	T	C	3: 64,271,353	E497G	probably benign	Het
Vmn2r91	G	T	17: 18,136,438	C789F	probably damaging	Het
Zfp276	A	G	8: 123,264,977		probably benign	Het

Other mutations in Sh3gl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Sh3gl2	APN	4	85347196	splice site	probably benign
PIT4362001:Sh3gl2	UTSW	4	85377549	missense	probably benign	0.00
R0699:Sh3gl2	UTSW	4	85347171	missense	probably benign	0.00
R0960:Sh3gl2	UTSW	4	85377480	missense	probably damaging	1.00
R1562:Sh3gl2	UTSW	4	85385893	missense	probably benign	0.00
R3877:Sh3gl2	UTSW	4	85379381	missense	possibly damaging	0.92
R4466:Sh3gl2	UTSW	4	85381451	missense	possibly damaging	0.62
R4630:Sh3gl2	UTSW	4	85379409	missense	probably damaging	1.00
R4811:Sh3gl2	UTSW	4	85398166	intron	probably benign
R4888:Sh3gl2	UTSW	4	85379257	missense	probably benign	0.17
R5121:Sh3gl2	UTSW	4	85379257	missense	probably benign	0.17
R5285:Sh3gl2	UTSW	4	85376449	missense	probably benign	0.03
R5484:Sh3gl2	UTSW	4	85398923	intron	probably benign
R5611:Sh3gl2	UTSW	4	85355331	missense	probably benign	0.39
R6029:Sh3gl2	UTSW	4	85381414	missense	probably damaging	0.97
R7048:Sh3gl2	UTSW	4	85377565	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCAAGTCAGTCTGTCAGTC -3'
(R):5'- AAGTCTGTGGTATCATTGCAGG -3'

Sequencing Primer
(F):5'- AGTAGGTGGTATCTCCCCTAACAG -3'
(R):5'- GAGGGTGGAAATACATTTGTAAAATC -3'

Posted On

2016-06-06