Mutagenetix > Incidental Mutation

Incidental Mutation 'R7715:Sh3gl2'

628314

Institutional Source

Beutler Lab

Gene Symbol

Sh3gl2

Ensembl Gene

ENSMUSG00000028488

Gene Name

SH3-domain GRB2-like 2

Synonyms

Sh3d2a, EEN1, 9530001L19Rik, endophilin I, EEN-B1, B930049H17Rik, endophilin A1

MMRRC Submission

045773-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7715 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85123663-85307617 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 85317077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102806 (fasta)

Gene Model

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

AlphaFold

Q62420

Predicted Effect

probably null
Transcript: ENSMUST00000107188

SMART Domains

Protein: ENSMUSP00000102806
Gene: ENSMUSG00000028488

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (67/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	G	1: 53,221,659 (GRCm39)	F57L	probably benign	Het
Agl	C	T	3: 116,551,905 (GRCm39)	R563Q		Het
Ahctf1	A	G	1: 179,598,413 (GRCm39)	M919T	probably benign	Het
Ano4	A	T	10: 88,831,173 (GRCm39)	N483K	probably damaging	Het
Armt1	A	G	10: 4,400,751 (GRCm39)	K166R	probably benign	Het
Asgr2	T	C	11: 69,987,721 (GRCm39)	V73A	probably benign	Het
Atp6v0a2	A	C	5: 124,791,262 (GRCm39)	T564P	probably damaging	Het
B3gntl1	T	C	11: 121,530,622 (GRCm39)	T150A	possibly damaging	Het
Bach1	A	G	16: 87,516,859 (GRCm39)	I467V	possibly damaging	Het
Bicd1	A	G	6: 149,414,471 (GRCm39)	K395E	probably benign	Het
Cadps	G	A	14: 12,457,762 (GRCm38)	P1040S	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,862 (GRCm39)		probably null	Het
Canx	A	G	11: 50,201,631 (GRCm39)	S80P	probably benign	Het
Ccdc149	T	A	5: 52,561,533 (GRCm39)		probably null	Het
Cd34	A	T	1: 194,631,624 (GRCm39)	N87Y	probably damaging	Het
Cdh11	T	A	8: 103,391,346 (GRCm39)	I297F	possibly damaging	Het
Cfap251	A	G	5: 123,400,197 (GRCm39)	N439D	probably damaging	Het
Cip2a	A	T	16: 48,834,347 (GRCm39)	Q643L	probably damaging	Het
Col14a1	A	G	15: 55,351,379 (GRCm39)	I1569V	unknown	Het
Cxcr4	C	T	1: 128,517,479 (GRCm39)	V61M	probably damaging	Het
Cyp20a1	G	A	1: 60,411,764 (GRCm39)	V271M	probably benign	Het
Cyp2b23	T	C	7: 26,381,120 (GRCm39)	Y79C	probably benign	Het
Daam1	A	G	12: 72,035,675 (GRCm39)	K957E	probably benign	Het
Dip2c	A	G	13: 9,664,427 (GRCm39)	K947E	probably damaging	Het
Efcab12	T	C	6: 115,800,504 (GRCm39)	K173R	possibly damaging	Het
Emc1	C	T	4: 139,098,934 (GRCm39)	R806C	probably damaging	Het
Epg5	G	A	18: 78,011,801 (GRCm39)	R816Q	probably damaging	Het
Faf1	G	T	4: 109,568,011 (GRCm39)	D24Y	probably damaging	Het
Fchsd1	A	T	18: 38,099,695 (GRCm39)		probably null	Het
Foxp1	T	C	6: 98,922,621 (GRCm39)	T404A	unknown	Het
Fra10ac1	T	C	19: 38,178,286 (GRCm39)	E299G	probably damaging	Het
Gon4l	A	G	3: 88,815,313 (GRCm39)	T1959A	probably benign	Het
Gpam	A	C	19: 55,077,353 (GRCm39)	V146G	probably benign	Het
Hephl1	T	A	9: 14,972,081 (GRCm39)	D953V	probably benign	Het
Kcnc2	G	T	10: 112,107,845 (GRCm39)	E79*	probably null	Het
Kcnj12	T	A	11: 60,957,778 (GRCm39)		probably null	Het
Llgl2	A	T	11: 115,740,554 (GRCm39)	T417S	probably benign	Het
Lrrc17	A	T	5: 21,766,078 (GRCm39)	N187Y	probably damaging	Het
Macc1	C	T	12: 119,409,991 (GRCm39)	A253V	possibly damaging	Het
Mark1	A	G	1: 184,639,431 (GRCm39)	S529P	probably damaging	Het
Mfsd6l	T	C	11: 68,448,376 (GRCm39)	L409P	probably damaging	Het
Nek1	A	G	8: 61,459,794 (GRCm39)	E34G	probably damaging	Het
Nlrp3	T	A	11: 59,433,829 (GRCm39)		probably null	Het
Obsl1	A	T	1: 75,478,680 (GRCm39)	V686D	probably damaging	Het
Or2l5	C	T	16: 19,333,480 (GRCm39)	R302K	probably benign	Het
Or55b10	T	A	7: 102,143,668 (GRCm39)	M105L	possibly damaging	Het
Or7h8	G	A	9: 20,123,731 (GRCm39)	G29R	probably damaging	Het
Or7h8	G	A	9: 20,123,732 (GRCm39)	G29E	probably benign	Het
Or8c15	T	A	9: 38,120,775 (GRCm39)	M140K	probably benign	Het
Or8g18	A	T	9: 39,149,174 (GRCm39)	L182H	probably damaging	Het
Ostm1	G	A	10: 42,559,183 (GRCm39)	G148R	probably benign	Het
Oxsr1	A	G	9: 119,071,822 (GRCm39)	S470P	probably damaging	Het
Pacs1	C	T	19: 5,191,709 (GRCm39)	M709I	probably benign	Het
Pan2	A	G	10: 128,153,592 (GRCm39)	M963V	probably benign	Het
Pds5a	A	G	5: 65,795,904 (GRCm39)	L662P	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Sh2b2	T	C	5: 136,247,889 (GRCm39)	N554S	probably benign	Het
Slc24a4	A	G	12: 102,185,219 (GRCm39)	M93V	possibly damaging	Het
Sohlh1	A	G	2: 25,734,640 (GRCm39)	S218P	possibly damaging	Het
Spast	T	A	17: 74,675,921 (GRCm39)	N321K	probably benign	Het
Srcap	T	G	7: 127,148,460 (GRCm39)	I1936S	probably damaging	Het
Themis	G	A	10: 28,739,305 (GRCm39)	V592I	probably benign	Het
Tnfrsf1a	C	T	6: 125,338,377 (GRCm39)	T296I	possibly damaging	Het
Ttk	A	G	9: 83,747,206 (GRCm39)	T682A	probably benign	Het
Virma	C	T	4: 11,549,682 (GRCm39)	R1807W	probably damaging	Het
Virma	A	G	4: 11,513,016 (GRCm39)		probably null	Het
Vmn2r101	T	A	17: 19,832,177 (GRCm39)	D724E	probably damaging	Het
Vmn2r11	A	G	5: 109,195,307 (GRCm39)	V673A	probably damaging	Het
Wbp4	C	T	14: 79,703,734 (GRCm39)	S271N	probably benign	Het

Other mutations in Sh3gl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Sh3gl2	APN	4	85,265,433 (GRCm39)	splice site	probably benign
PIT4362001:Sh3gl2	UTSW	4	85,295,786 (GRCm39)	missense	probably benign	0.00
R0699:Sh3gl2	UTSW	4	85,265,408 (GRCm39)	missense	probably benign	0.00
R0960:Sh3gl2	UTSW	4	85,295,717 (GRCm39)	missense	probably damaging	1.00
R1562:Sh3gl2	UTSW	4	85,304,130 (GRCm39)	missense	probably benign	0.00
R3877:Sh3gl2	UTSW	4	85,297,618 (GRCm39)	missense	possibly damaging	0.92
R4466:Sh3gl2	UTSW	4	85,299,688 (GRCm39)	missense	possibly damaging	0.62
R4630:Sh3gl2	UTSW	4	85,297,646 (GRCm39)	missense	probably damaging	1.00
R4811:Sh3gl2	UTSW	4	85,316,403 (GRCm39)	intron	probably benign
R4888:Sh3gl2	UTSW	4	85,297,494 (GRCm39)	missense	probably benign	0.17
R5018:Sh3gl2	UTSW	4	85,309,291 (GRCm39)	unclassified	probably benign
R5121:Sh3gl2	UTSW	4	85,297,494 (GRCm39)	missense	probably benign	0.17
R5285:Sh3gl2	UTSW	4	85,294,686 (GRCm39)	missense	probably benign	0.03
R5484:Sh3gl2	UTSW	4	85,317,160 (GRCm39)	intron	probably benign
R5611:Sh3gl2	UTSW	4	85,273,568 (GRCm39)	missense	probably benign	0.39
R6029:Sh3gl2	UTSW	4	85,299,651 (GRCm39)	missense	probably damaging	0.97
R7048:Sh3gl2	UTSW	4	85,295,802 (GRCm39)	missense	probably damaging	1.00
R7919:Sh3gl2	UTSW	4	85,273,595 (GRCm39)	missense	probably benign	0.19
R8298:Sh3gl2	UTSW	4	85,297,647 (GRCm39)	missense	possibly damaging	0.57
R8871:Sh3gl2	UTSW	4	85,305,817 (GRCm39)	missense
R8897:Sh3gl2	UTSW	4	85,273,597 (GRCm39)	missense	probably benign	0.00
R9476:Sh3gl2	UTSW	4	85,304,089 (GRCm39)	missense	probably benign	0.00
R9510:Sh3gl2	UTSW	4	85,304,089 (GRCm39)	missense	probably benign	0.00
R9682:Sh3gl2	UTSW	4	85,295,748 (GRCm39)	missense	probably damaging	1.00
R9785:Sh3gl2	UTSW	4	85,273,618 (GRCm39)	missense	probably damaging	1.00
R9796:Sh3gl2	UTSW	4	85,295,765 (GRCm39)	missense	possibly damaging	0.45

Predicted Primers

PCR Primer
(F):5'- CTGCTTGACAATCCATTCACG -3'
(R):5'- CACATAGATCAGATGATGGGGCC -3'

Sequencing Primer
(F):5'- GCTTGACAATCCATTCACGTTTAAG -3'
(R):5'- ACCACCTGGCATCTCACATTG -3'

Posted On

2020-03-05