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

Bif-1, Endophilin B1

MMRRC Submission

045845-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.623) question?

Stock #

R7789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144683678-144720335 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 144692131 bp (GRCm38)

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: 4,864,311	E163K	probably benign	Het
Adam34	T	A	8: 43,652,451	R52S	probably benign	Het
Adcy8	A	T	15: 64,871,774	C328*	probably null	Het
Ankrd26	G	T	6: 118,527,799	S716R	possibly damaging	Het
Ankrd26	G	T	6: 118,527,798	H717N	probably damaging	Het
Ankrd40	C	A	11: 94,334,709	P189T	probably damaging	Het
Anln	A	G	9: 22,352,037	S113P		Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Asxl1	C	T	2: 153,400,023	T832I	probably benign	Het
Bicd2	C	T	13: 49,379,659	R574C	probably damaging	Het
Boll	T	C	1: 55,360,667		probably null	Het
Casr	A	G	16: 36,495,291	F806L	probably damaging	Het
Casz1	C	A	4: 148,929,406	N142K	probably benign	Het
Cbl	C	T	9: 44,163,467	D433N	probably damaging	Het
Ceacam14	T	A	7: 17,814,171	V62D	probably damaging	Het
Chst10	T	C	1: 38,884,451	N18S	probably benign	Het
Cyp2j6	C	T	4: 96,545,716	R119H	probably benign	Het
Cyp4a14	C	G	4: 115,494,910	V102L	probably benign	Het
Dnajb3	A	T	1: 88,205,677	M1K	probably null	Het
Dnajc6	A	T	4: 101,618,532	K534M	possibly damaging	Het
Dnase2a	T	C	8: 84,908,876		probably null	Het
Dock10	A	G	1: 80,559,213	I985T	possibly damaging	Het
Emsy	G	T	7: 98,621,489	P436Q	probably damaging	Het
Enpp1	A	T	10: 24,654,083		probably null	Het
Erc1	T	A	6: 119,773,709	R353*	probably null	Het
Fam196b	T	A	11: 34,402,537	M193K	probably benign	Het
Fbn2	T	A	18: 58,039,313	D2140V	probably benign	Het
Fgfr1	T	A	8: 25,562,313	Y218*	probably null	Het
Fhod1	C	T	8: 105,330,108	R1045H	probably damaging	Het
Focad	G	T	4: 88,229,406	L427F	unknown	Het
Gbf1	T	A	19: 46,254,002	L144M	probably damaging	Het
Glmn	T	G	5: 107,549,075	N592T	probably benign	Het
Golgb1	C	G	16: 36,875,399	P87A	unknown	Het
H2bfm	G	A	X: 136,927,722	R120K	unknown	Het
Itga9	T	G	9: 118,658,496	F216V	possibly damaging	Het
Klhl18	T	C	9: 110,439,008	D149G	unknown	Het
Lcat	C	T	8: 105,942,225	V114M	probably benign	Het
Lrrc8c	C	A	5: 105,607,200	N280K	probably damaging	Het
Mettl8	T	C	2: 70,966,462	Y283C	probably damaging	Het
Mgat4a	A	T	1: 37,490,279	I173K	probably damaging	Het
Mmp1a	T	C	9: 7,475,265	V345A	possibly damaging	Het
Mok	T	A	12: 110,811,827	H215L	probably damaging	Het
Mphosph9	C	G	5: 124,315,587	E221Q	probably damaging	Het
Muc4	C	G	16: 32,753,930	Q1269E	probably benign	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Myom1	A	G	17: 71,117,436	T1525A	probably benign	Het
Nap1l1	C	T	10: 111,490,456	S143L	probably benign	Het
Olfr366	C	T	2: 37,219,660	T57I	probably benign	Het
Olfr531	A	T	7: 140,400,697	Y116*	probably null	Het
Olfr646	T	A	7: 104,106,988	S236R	probably damaging	Het
Olfr847	G	T	9: 19,375,065	T272K	probably benign	Het
Plbd2	T	C	5: 120,485,754	S568G	probably damaging	Het
Plxna4	T	A	6: 32,206,233		probably null	Het
Plxnc1	T	A	10: 94,794,477	E1520V	probably damaging	Het
Ppil3	G	A	1: 58,434,379	T104I	possibly damaging	Het
Ptprm	A	T	17: 67,095,539	V118E	probably damaging	Het
Rimbp2	T	C	5: 128,774,335	D849G	probably damaging	Het
Rnf213	T	C	11: 119,470,219		probably null	Het
Sema3f	T	A	9: 107,705,432	K37N	probably benign	Het
Sh3rf3	A	G	10: 59,086,815	D571G	probably benign	Het
Sipa1l3	T	C	7: 29,377,725	Y874C	probably damaging	Het
Smchd1	G	A	17: 71,475,301		probably benign	Het
Snrnp70	A	T	7: 45,376,621	Y441*	probably null	Het
Ssrp1	C	T	2: 85,041,181	R316W	probably damaging	Het
Syt10	A	T	15: 89,826,898	V144E	probably damaging	Het
Tdrd12	A	G	7: 35,488,692	L562P		Het
Trim68	T	C	7: 102,684,469	D2G	possibly damaging	Het
Trub2	T	A	2: 29,777,908	H240L	probably damaging	Het
Tssc4	A	G	7: 143,069,778		probably null	Het
Usp7	T	A	16: 8,698,811	Q539L	probably benign	Het
Vmn2r17	T	A	5: 109,452,965	C710S	possibly damaging	Het
Vmn2r99	G	T	17: 19,393,817	V600F	possibly damaging	Het
Vps13d	C	T	4: 145,100,065	V2879M		Het
Vrtn	T	A	12: 84,650,306	M610K	probably benign	Het
Xpo4	T	C	14: 57,613,349	E366G	probably benign	Het
Zyg11a	G	A	4: 108,183,648	P703S	probably damaging	Het

Other mutations in Sh3glb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02541:Sh3glb1	APN	3	144720040	missense	probably damaging	0.99
R1766:Sh3glb1	UTSW	3	144712685	missense	probably damaging	1.00
R4534:Sh3glb1	UTSW	3	144699863	missense	possibly damaging	0.56
R5456:Sh3glb1	UTSW	3	144709353	missense	probably benign	0.01
R5748:Sh3glb1	UTSW	3	144712649	missense	probably damaging	0.98
R5902:Sh3glb1	UTSW	3	144712670	missense	possibly damaging	0.90
R6167:Sh3glb1	UTSW	3	144691903	missense	probably damaging	1.00
R6310:Sh3glb1	UTSW	3	144697467	missense	probably damaging	1.00
R6446:Sh3glb1	UTSW	3	144705605	missense	probably damaging	1.00
R8406:Sh3glb1	UTSW	3	144691437	missense	probably damaging	0.99
R9311:Sh3glb1	UTSW	3	144691898	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