Mutagenetix > Incidental Mutation

Incidental Mutation 'R9311:Sh3glb1'

705543

Institutional Source

Beutler Lab

Gene Symbol

Sh3glb1

Ensembl Gene

ENSMUSG00000037062

Gene Name

SH3-domain GRB2-like B1 (endophilin)

Synonyms

Endophilin B1, Bif-1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.612) question?

Stock #

R9311 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144389439-144426096 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 144397659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143433 (fasta)

Gene Model

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

AlphaFold

Q9JK48

Predicted Effect

probably benign
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 benign
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 benign
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 benign
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 benign
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,495,816 (GRCm39)	I84T	possibly damaging	Het
Adad2	G	T	8: 120,341,986 (GRCm39)	R268L	probably damaging	Het
Agxt2	A	T	15: 10,380,733 (GRCm39)	N208I	probably damaging	Het
Brsk1	G	T	7: 4,709,722 (GRCm39)		probably null	Het
Cd40	A	T	2: 164,912,667 (GRCm39)	Q235L	possibly damaging	Het
Cdcp3	A	T	7: 130,859,490 (GRCm39)	D1137V	unknown	Het
Cln6	T	C	9: 62,757,900 (GRCm39)	Y220H	probably damaging	Het
Cngb1	A	T	8: 96,010,794 (GRCm39)		probably null	Het
Cpne1	A	T	2: 155,919,723 (GRCm39)	V277E	probably damaging	Het
Csf2rb2	C	T	15: 78,176,735 (GRCm39)		probably null	Het
Cyp4f15	A	G	17: 32,905,139 (GRCm39)	T41A	probably benign	Het
Dab1	T	C	4: 104,369,463 (GRCm39)		probably null	Het
Eif4e1b	C	A	13: 54,932,332 (GRCm39)	H56N	probably benign	Het
Elp3	A	T	14: 65,823,788 (GRCm39)	D78E	probably benign	Het
Ephx3	C	G	17: 32,408,290 (GRCm39)	D45H	probably benign	Het
Gabarap	T	A	11: 69,882,549 (GRCm39)	V4E	probably benign	Het
Gm5105	T	A	3: 137,755,418 (GRCm39)	D56V	unknown	Het
Gosr2	G	T	11: 103,574,693 (GRCm39)	H134Q	probably damaging	Het
Ifi204	A	G	1: 173,589,215 (GRCm39)	V72A	possibly damaging	Het
Irx1	A	G	13: 72,107,416 (GRCm39)	V422A	probably benign	Het
Kcne4	C	A	1: 78,795,824 (GRCm39)	D157E	probably benign	Het
Kctd13	A	G	7: 126,541,345 (GRCm39)	N195S	probably damaging	Het
Kirrel1	A	G	3: 87,005,123 (GRCm39)	V75A	probably benign	Het
Klkb1	T	C	8: 45,722,983 (GRCm39)	T625A	probably benign	Het
Lama5	A	G	2: 179,838,275 (GRCm39)		probably null	Het
Lifr	A	G	15: 7,208,418 (GRCm39)	I599V	possibly damaging	Het
Lin52	A	T	12: 84,576,470 (GRCm39)	E101V	probably damaging	Het
Liph	T	C	16: 21,802,680 (GRCm39)	I130V	probably benign	Het
Liph	C	T	16: 21,774,913 (GRCm39)	R428Q	probably damaging	Het
Lrrc4c	A	C	2: 97,461,080 (GRCm39)	I569L	possibly damaging	Het
Mnat1	G	A	12: 73,214,916 (GRCm39)	V78I	probably benign	Het
Msln	C	T	17: 25,971,990 (GRCm39)	D76N	probably benign	Het
Myh7b	A	G	2: 155,463,253 (GRCm39)	H495R	probably damaging	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Nfu1	T	C	6: 86,986,926 (GRCm39)	V15A	probably benign	Het
Nphp4	T	C	4: 152,608,714 (GRCm39)	S441P	probably damaging	Het
Nuak1	T	C	10: 84,214,090 (GRCm39)		probably null	Het
Or1j20	A	T	2: 36,760,405 (GRCm39)	I276F	probably damaging	Het
Or5h27	A	T	16: 59,006,106 (GRCm39)	C247S	unknown	Het
Or5w22	A	G	2: 87,362,358 (GRCm39)		probably benign	Het
Or8b3b	A	G	9: 38,583,925 (GRCm39)	S272P	probably damaging	Het
Palld	A	G	8: 61,978,189 (GRCm39)	V1109A	unknown	Het
Pik3c3	G	A	18: 30,445,666 (GRCm39)	R551H	probably benign	Het
Plcb1	G	A	2: 135,189,385 (GRCm39)	V838I	probably benign	Het
Plppr4	G	T	3: 117,119,518 (GRCm39)	T297K	probably damaging	Het
Ptprd	A	G	4: 76,051,320 (GRCm39)	I67T	probably benign	Het
Rb1cc1	T	A	1: 6,310,539 (GRCm39)	N312K	probably damaging	Het
Siglec1	C	T	2: 130,916,013 (GRCm39)	C1283Y	probably damaging	Het
Spns1	T	C	7: 125,972,995 (GRCm39)	I204V	probably damaging	Het
Sprr5	T	G	3: 92,440,397 (GRCm39)	Q14P	unknown	Het
Supt6	T	C	11: 78,116,284 (GRCm39)	Y693C	probably damaging	Het
Taar9	A	G	10: 23,985,152 (GRCm39)	V94A	probably damaging	Het
Tchp	T	C	5: 114,846,877 (GRCm39)	S55P	probably benign	Het
Tmem132b	A	G	5: 125,863,029 (GRCm39)	H678R	possibly damaging	Het
Tnr	G	C	1: 159,677,663 (GRCm39)	G16A	probably benign	Het
Top3b	T	C	16: 16,700,563 (GRCm39)		probably null	Het
Tpmt	A	G	13: 47,185,892 (GRCm39)		probably null	Het
Treh	G	A	9: 44,592,655 (GRCm39)	V87I	probably benign	Het
Ttc4	T	C	4: 106,535,963 (GRCm39)	D33G	probably benign	Het
Usp47	A	G	7: 111,703,257 (GRCm39)	D1171G	probably benign	Het
Vmn2r61	G	T	7: 41,950,092 (GRCm39)	L837F	possibly damaging	Het
Vmn2r86	T	A	10: 130,288,440 (GRCm39)	N354Y	probably damaging	Het
Vmn2r88	C	G	14: 51,650,503 (GRCm39)	A72G	probably benign	Het
Zscan4b	C	A	7: 10,635,950 (GRCm39)	V126F	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
R7789:Sh3glb1	UTSW	3	144,397,892 (GRCm39)	splice site	probably null
R8406:Sh3glb1	UTSW	3	144,397,198 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCGGAGTCCATTCCAACGAC -3'
(R):5'- GCTTTGTCAAATGCAATTGGTCC -3'

Sequencing Primer
(F):5'- ATGGATTTTATCAGTGGCAGTTC -3'
(R):5'- GTCAAATGCAATTGGTCCTTCTG -3'

Posted On

2022-03-25