Incidental Mutation 'R5456:Sh3glb1'
ID 432747
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 043019-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.556) question?
Stock # R5456 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 144389439-144426096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 144415114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 75 (I75L)
Ref Sequence ENSEMBL: ENSMUSP00000142716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163279] [ENSMUST00000198254] [ENSMUST00000199531] [ENSMUST00000199854] [ENSMUST00000200532]
AlphaFold Q9JK48
Predicted Effect probably benign
Transcript: ENSMUST00000163279
AA Change: I75L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000129800
Gene: ENSMUSG00000037062
AA Change: I75L

DomainStartEndE-ValueType
BAR 10 254 6.4e-89 SMART
SH3 308 365 1.57e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198254
AA Change: I75L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143312
Gene: ENSMUSG00000037062
AA Change: I75L

DomainStartEndE-ValueType
BAR 10 275 1.12e-88 SMART
SH3 329 386 1.57e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199531
AA Change: I75L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143433
Gene: ENSMUSG00000037062
AA Change: I75L

DomainStartEndE-ValueType
BAR 10 254 1.7e-91 SMART
SH3 308 355 6.4e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199854
AA Change: I75L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000142716
Gene: ENSMUSG00000037062
AA Change: I75L

DomainStartEndE-ValueType
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

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,889,759 (GRCm39) D37G probably damaging Het
Adcy5 T C 16: 35,118,892 (GRCm39) F1081S probably damaging Het
Apmap T A 2: 150,431,989 (GRCm39) I128L probably benign Het
Arhgap12 G A 18: 6,112,170 (GRCm39) Q65* probably null Het
Baat C T 4: 49,502,949 (GRCm39) V58I possibly damaging Het
Bco2 T C 9: 50,456,644 (GRCm39) probably null Het
Bend3 T C 10: 43,386,542 (GRCm39) Y312H probably damaging Het
Btnl2 A T 17: 34,582,295 (GRCm39) Y287F probably benign Het
Cd22 T C 7: 30,575,464 (GRCm39) I193V probably benign Het
Commd3 A G 2: 18,678,968 (GRCm39) E95G probably damaging Het
Dcbld1 A G 10: 52,190,486 (GRCm39) D215G probably damaging Het
Elfn1 A G 5: 139,958,571 (GRCm39) Y525C probably damaging Het
Fam83b T C 9: 76,399,877 (GRCm39) T409A probably benign Het
Fshr T A 17: 89,293,776 (GRCm39) I301F probably benign Het
Hemgn C T 4: 46,396,571 (GRCm39) V222M probably damaging Het
Igsf3 C T 3: 101,334,537 (GRCm39) H205Y probably benign Het
Mfsd1 T C 3: 67,497,166 (GRCm39) I147T probably benign Het
Mslnl A G 17: 25,962,133 (GRCm39) D177G probably damaging Het
Nat2 G A 8: 67,954,225 (GRCm39) V112I probably damaging Het
Or4c10b G A 2: 89,711,602 (GRCm39) G144E probably damaging Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Pabpc1l T C 2: 163,869,580 (GRCm39) S127P probably damaging Het
Poln A T 5: 34,164,786 (GRCm39) L845Q possibly damaging Het
Ppm1f T A 16: 16,741,610 (GRCm39) D361E probably damaging Het
Rapgef5 T A 12: 117,692,381 (GRCm39) probably null Het
Rarb G A 14: 16,436,843 (GRCm38) T226I probably damaging Het
Sel1l3 T C 5: 53,357,378 (GRCm39) K205E probably benign Het
Srgap1 G A 10: 121,705,716 (GRCm39) S236L probably benign Het
Tmco3 A G 8: 13,369,815 (GRCm39) Y609C probably damaging Het
Trhde A G 10: 114,322,665 (GRCm39) V712A possibly damaging Het
Trim13 A G 14: 61,842,523 (GRCm39) D180G possibly damaging Het
Tst T C 15: 78,284,158 (GRCm39) E223G probably damaging Het
Umodl1 A G 17: 31,201,263 (GRCm39) I397M probably benign Het
Usp31 T C 7: 121,269,500 (GRCm39) D481G probably damaging Het
Vps13c T A 9: 67,834,729 (GRCm39) M1686K possibly damaging Het
Wdr83 T C 8: 85,806,837 (GRCm39) H81R probably benign 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
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
R9311:Sh3glb1 UTSW 3 144,397,659 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACAACAGAGGTCATGTCAGAC -3'
(R):5'- AAAATTCTTTCCCCTTGTGGTTTGG -3'

Sequencing Primer
(F):5'- GTCATGTCAGACCAATAAGAACATG -3'
(R):5'- GGGGAGTACAGGTCTTCGC -3'
Posted On 2016-10-06