Mutagenetix > Incidental Mutation

Incidental Mutation 'R7789:Sh3glb1'

628631

Institutional Source

Beutler Lab

Gene Symbol

Sh3glb1

Ensembl Gene

ENSMUSG00000037062

Gene Name

SH3-domain GRB2-like B1 (endophilin)

Synonyms

Endophilin B1, Bif-1

MMRRC Submission

045845-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.556) question?

Stock #

R7789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144389439-144426096 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 144397892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163279] [ENSMUST00000198254] [ENSMUST00000199350] [ENSMUST00000199531] [ENSMUST00000199854] [ENSMUST00000200532]

AlphaFold

Q9JK48

Predicted Effect

probably null
Transcript: ENSMUST00000163279

SMART Domains

Protein: ENSMUSP00000129800
Gene: ENSMUSG00000037062

Domain	Start	End	E-Value	Type
BAR	10	254	6.4e-89	SMART
SH3	308	365	1.57e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000198254

SMART Domains

Protein: ENSMUSP00000143312
Gene: ENSMUSG00000037062

Domain	Start	End	E-Value	Type
BAR	10	275	1.12e-88	SMART
SH3	329	386	1.57e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000199350

SMART Domains

Protein: ENSMUSP00000143031
Gene: ENSMUSG00000037062

Domain	Start	End	E-Value	Type
Pfam:BAR	1	64	1.6e-14	PFAM
Blast:BAR	72	140	1e-24	BLAST
PDB:1X43\|A	106	140	7e-16	PDB
SCOP:d1gcqa_	117	140	3e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000199531

SMART Domains

Protein: ENSMUSP00000143433
Gene: ENSMUSG00000037062

Domain	Start	End	E-Value	Type
BAR	10	254	1.7e-91	SMART
SH3	308	355	6.4e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000199854

SMART Domains

Protein: ENSMUSP00000142716
Gene: ENSMUSG00000037062

Domain	Start	End	E-Value	Type
BAR	10	283	1.8e-90	SMART
SH3	337	394	9.5e-17	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000200532

SMART Domains

Protein: ENSMUSP00000142626
Gene: ENSMUSG00000037062

Domain	Start	End	E-Value	Type
Pfam:BAR	1	144	8.2e-28	PFAM
Pfam:BAR_2	1	144	1.8e-6	PFAM
Blast:BAR	152	194	2e-7	BLAST

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in regulating apoptotic signaling pathways. This protein may also be involved in maintaining mitochondrial morphology. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous mutation of this gene results in delayed apoptosis of embryonic fibroblasts in response to serum withdrawal or treatment with a mitochondrial stress inducer. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,682,175 (GRCm39)	E163K	probably benign	Het
Adam34	T	A	8: 44,105,488 (GRCm39)	R52S	probably benign	Het
Adcy8	A	T	15: 64,743,623 (GRCm39)	C328*	probably null	Het
Ankrd26	G	T	6: 118,504,760 (GRCm39)	S716R	possibly damaging	Het
Ankrd26	G	T	6: 118,504,759 (GRCm39)	H717N	probably damaging	Het
Ankrd40	C	A	11: 94,225,535 (GRCm39)	P189T	probably damaging	Het
Anln	A	G	9: 22,263,333 (GRCm39)	S113P		Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Asxl1	C	T	2: 153,241,943 (GRCm39)	T832I	probably benign	Het
Bicd2	C	T	13: 49,533,135 (GRCm39)	R574C	probably damaging	Het
Boll	T	C	1: 55,399,826 (GRCm39)		probably null	Het
Casr	A	G	16: 36,315,653 (GRCm39)	F806L	probably damaging	Het
Casz1	C	A	4: 149,013,863 (GRCm39)	N142K	probably benign	Het
Cbl	C	T	9: 44,074,764 (GRCm39)	D433N	probably damaging	Het
Ceacam14	T	A	7: 17,548,096 (GRCm39)	V62D	probably damaging	Het
Chst10	T	C	1: 38,923,532 (GRCm39)	N18S	probably benign	Het
Cyp2j6	C	T	4: 96,433,953 (GRCm39)	R119H	probably benign	Het
Cyp4a14	C	G	4: 115,352,107 (GRCm39)	V102L	probably benign	Het
Dnajb3	A	T	1: 88,133,399 (GRCm39)	M1K	probably null	Het
Dnajc6	A	T	4: 101,475,729 (GRCm39)	K534M	possibly damaging	Het
Dnase2a	T	C	8: 85,635,505 (GRCm39)		probably null	Het
Dock10	A	G	1: 80,536,930 (GRCm39)	I985T	possibly damaging	Het
Emsy	G	T	7: 98,270,696 (GRCm39)	P436Q	probably damaging	Het
Enpp1	A	T	10: 24,529,981 (GRCm39)		probably null	Het
Erc1	T	A	6: 119,750,670 (GRCm39)	R353*	probably null	Het
Fbn2	T	A	18: 58,172,385 (GRCm39)	D2140V	probably benign	Het
Fgfr1	T	A	8: 26,052,329 (GRCm39)	Y218*	probably null	Het
Fhod1	C	T	8: 106,056,740 (GRCm39)	R1045H	probably damaging	Het
Focad	G	T	4: 88,147,643 (GRCm39)	L427F	unknown	Het
Gbf1	T	A	19: 46,242,441 (GRCm39)	L144M	probably damaging	Het
Glmn	T	G	5: 107,696,941 (GRCm39)	N592T	probably benign	Het
Golgb1	C	G	16: 36,695,761 (GRCm39)	P87A	unknown	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Insyn2b	T	A	11: 34,352,537 (GRCm39)	M193K	probably benign	Het
Itga9	T	G	9: 118,487,564 (GRCm39)	F216V	possibly damaging	Het
Klhl18	T	C	9: 110,268,076 (GRCm39)	D149G	unknown	Het
Lcat	C	T	8: 106,668,857 (GRCm39)	V114M	probably benign	Het
Lrrc8c	C	A	5: 105,755,066 (GRCm39)	N280K	probably damaging	Het
Mettl8	T	C	2: 70,796,806 (GRCm39)	Y283C	probably damaging	Het
Mgat4a	A	T	1: 37,529,360 (GRCm39)	I173K	probably damaging	Het
Mmp1a	T	C	9: 7,475,266 (GRCm39)	V345A	possibly damaging	Het
Mok	T	A	12: 110,778,261 (GRCm39)	H215L	probably damaging	Het
Mphosph9	C	G	5: 124,453,650 (GRCm39)	E221Q	probably damaging	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Myom1	A	G	17: 71,424,431 (GRCm39)	T1525A	probably benign	Het
Nap1l1	C	T	10: 111,326,317 (GRCm39)	S143L	probably benign	Het
Or1af1	C	T	2: 37,109,672 (GRCm39)	T57I	probably benign	Het
Or2j6	A	T	7: 139,980,610 (GRCm39)	Y116*	probably null	Het
Or52d1	T	A	7: 103,756,195 (GRCm39)	S236R	probably damaging	Het
Or7g29	G	T	9: 19,286,361 (GRCm39)	T272K	probably benign	Het
Plbd2	T	C	5: 120,623,819 (GRCm39)	S568G	probably damaging	Het
Plxna4	T	A	6: 32,183,168 (GRCm39)		probably null	Het
Plxnc1	T	A	10: 94,630,339 (GRCm39)	E1520V	probably damaging	Het
Ppil3	G	A	1: 58,473,538 (GRCm39)	T104I	possibly damaging	Het
Ptprm	A	T	17: 67,402,534 (GRCm39)	V118E	probably damaging	Het
Rimbp2	T	C	5: 128,851,399 (GRCm39)	D849G	probably damaging	Het
Rnf213	T	C	11: 119,361,045 (GRCm39)		probably null	Het
Sema3f	T	A	9: 107,582,631 (GRCm39)	K37N	probably benign	Het
Sh3rf3	A	G	10: 58,922,637 (GRCm39)	D571G	probably benign	Het
Sipa1l3	T	C	7: 29,077,150 (GRCm39)	Y874C	probably damaging	Het
Smchd1	G	A	17: 71,782,296 (GRCm39)		probably benign	Het
Snrnp70	A	T	7: 45,026,045 (GRCm39)	Y441*	probably null	Het
Ssrp1	C	T	2: 84,871,525 (GRCm39)	R316W	probably damaging	Het
Syt10	A	T	15: 89,711,101 (GRCm39)	V144E	probably damaging	Het
Tdrd12	A	G	7: 35,188,117 (GRCm39)	L562P		Het
Trim68	T	C	7: 102,333,676 (GRCm39)	D2G	possibly damaging	Het
Trub2	T	A	2: 29,667,920 (GRCm39)	H240L	probably damaging	Het
Tssc4	A	G	7: 142,623,515 (GRCm39)		probably null	Het
Usp7	T	A	16: 8,516,675 (GRCm39)	Q539L	probably benign	Het
Vmn2r17	T	A	5: 109,600,831 (GRCm39)	C710S	possibly damaging	Het
Vmn2r99	G	T	17: 19,614,079 (GRCm39)	V600F	possibly damaging	Het
Vps13d	C	T	4: 144,826,635 (GRCm39)	V2879M		Het
Vrtn	T	A	12: 84,697,080 (GRCm39)	M610K	probably benign	Het
Xpo4	T	C	14: 57,850,806 (GRCm39)	E366G	probably benign	Het
Zyg11a	G	A	4: 108,040,845 (GRCm39)	P703S	probably damaging	Het

Other mutations in Sh3glb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02541:Sh3glb1	APN	3	144,425,801 (GRCm39)	missense	probably damaging	0.99
R1766:Sh3glb1	UTSW	3	144,418,446 (GRCm39)	missense	probably damaging	1.00
R4534:Sh3glb1	UTSW	3	144,405,624 (GRCm39)	missense	possibly damaging	0.56
R5456:Sh3glb1	UTSW	3	144,415,114 (GRCm39)	missense	probably benign	0.01
R5748:Sh3glb1	UTSW	3	144,418,410 (GRCm39)	missense	probably damaging	0.98
R5902:Sh3glb1	UTSW	3	144,418,431 (GRCm39)	missense	possibly damaging	0.90
R6167:Sh3glb1	UTSW	3	144,397,664 (GRCm39)	missense	probably damaging	1.00
R6310:Sh3glb1	UTSW	3	144,403,228 (GRCm39)	missense	probably damaging	1.00
R6446:Sh3glb1	UTSW	3	144,411,366 (GRCm39)	missense	probably damaging	1.00
R8406:Sh3glb1	UTSW	3	144,397,198 (GRCm39)	missense	probably damaging	0.99
R9311:Sh3glb1	UTSW	3	144,397,659 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGACAGTTCAGTGCTATTTGC -3'
(R):5'- TATTTGAGTACTGCCTTCGAGG -3'

Sequencing Primer
(F):5'- ATAGAGGACCCTAGCCTTCCTG -3'
(R):5'- GGAAGAGAAAAGCGACCATATACTTC -3'

Posted On

2020-06-01