Incidental Mutation 'R6446:Sh3glb1'
ID 519182
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 044583-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.612) question?
Stock # R6446 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 144389439-144426096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144411366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 13 (K13E)
Ref Sequence ENSEMBL: ENSMUSP00000142626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163279] [ENSMUST00000198254] [ENSMUST00000199531] [ENSMUST00000199854] [ENSMUST00000200532]
AlphaFold Q9JK48
Predicted Effect possibly damaging
Transcript: ENSMUST00000163279
AA Change: K160E

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129800
Gene: ENSMUSG00000037062
AA Change: K160E

DomainStartEndE-ValueType
BAR 10 254 6.4e-89 SMART
SH3 308 365 1.57e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000198254
AA Change: K160E

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143312
Gene: ENSMUSG00000037062
AA Change: K160E

DomainStartEndE-ValueType
BAR 10 275 1.12e-88 SMART
SH3 329 386 1.57e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000199531
AA Change: K160E

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143433
Gene: ENSMUSG00000037062
AA Change: K160E

DomainStartEndE-ValueType
BAR 10 254 1.7e-91 SMART
SH3 308 355 6.4e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000199854
AA Change: K160E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142716
Gene: ENSMUSG00000037062
AA Change: K160E

DomainStartEndE-ValueType
BAR 10 283 1.8e-90 SMART
SH3 337 394 9.5e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000200532
AA Change: K13E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142626
Gene: ENSMUSG00000037062
AA Change: K13E

DomainStartEndE-ValueType
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 0.5747 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 97% (36/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a3 A G 16: 30,180,687 (GRCm39) L114P probably benign Het
Blm GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,652 (GRCm39) probably benign Het
Catsperg1 T C 7: 28,905,992 (GRCm39) I196V probably benign Het
Cbx2 T A 11: 118,918,752 (GRCm39) S106T probably benign Het
Ccar2 T A 14: 70,380,518 (GRCm39) E354V probably benign Het
Ccr1 A G 9: 123,764,143 (GRCm39) I129T probably damaging Het
Cdkl2 T A 5: 92,181,076 (GRCm39) I188F probably damaging Het
Cep350 T C 1: 155,737,900 (GRCm39) N2648D probably benign Het
Chtf18 A G 17: 25,940,218 (GRCm39) S658P probably benign Het
Csnka2ip G A 16: 64,299,744 (GRCm39) Q207* probably null Het
Dennd5a A G 7: 109,493,873 (GRCm39) L1253P probably damaging Het
Dennd6a T A 14: 26,350,689 (GRCm39) I374K probably damaging Het
Dut T C 2: 125,092,939 (GRCm39) probably null Het
Gcm1 T C 9: 77,967,065 (GRCm39) Y95H probably benign Het
Grid2 A T 6: 64,322,577 (GRCm39) I526F probably damaging Het
Hectd4 T A 5: 121,472,438 (GRCm39) Y2725N possibly damaging Het
Helq A T 5: 100,916,250 (GRCm39) N907K possibly damaging Het
Hpse G A 5: 100,843,435 (GRCm39) Q246* probably null Het
Iigp1c A G 18: 60,378,840 (GRCm39) D125G probably damaging Het
Kcnj15 C T 16: 95,097,118 (GRCm39) H247Y probably benign Het
Kif27 C A 13: 58,493,530 (GRCm39) V138F probably damaging Het
Map7 T G 10: 20,153,979 (GRCm39) D698E unknown Het
Mtmr11 A T 3: 96,078,504 (GRCm39) S687C probably benign Het
Ncbp2 CGTCTGGATG CG 16: 31,775,161 (GRCm39) probably null Het
Nup210l G A 3: 90,079,375 (GRCm39) G953E probably damaging Het
Or14c45 T A 7: 86,176,310 (GRCm39) I115N possibly damaging Het
Piezo2 G T 18: 63,219,678 (GRCm39) P792T probably damaging Het
Pld3 T C 7: 27,237,156 (GRCm39) D241G probably damaging Het
Prss35 G T 9: 86,637,706 (GRCm39) V159F probably damaging Het
Rimbp3 A T 16: 17,030,793 (GRCm39) M1406L probably benign Het
Serpina3g T C 12: 104,205,341 (GRCm39) F27L probably damaging Het
Setd1b G A 5: 123,299,862 (GRCm39) probably benign Het
Slc29a1 A T 17: 45,900,171 (GRCm39) I217N possibly damaging Het
Spag17 A T 3: 100,010,448 (GRCm39) T1981S probably benign Het
Svil A C 18: 5,057,323 (GRCm39) E590D probably benign Het
Synm A G 7: 67,384,714 (GRCm39) S541P probably damaging Het
Vmn2r108 A T 17: 20,692,609 (GRCm39) Y82* probably null Het
Other mutations in Sh3glb1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9311:Sh3glb1 UTSW 3 144,397,659 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCCACACTGTTCTGTAATCTGC -3'
(R):5'- CCTAGCATGATAAAATTGGGTTCAG -3'

Sequencing Primer
(F):5'- ACACTGTTCTGTAATCTGCATTTTG -3'
(R):5'- TCAGTAGGATGAAATCTGATACATGG -3'
Posted On 2018-05-24