Incidental Mutation 'R6167:Sh3glb1'
ID 490184
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 044313-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.556) question?
Stock # R6167 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 144389439-144426096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 144397664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 358 (D358E)
Ref Sequence ENSEMBL: ENSMUSP00000142716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163279] [ENSMUST00000198254] [ENSMUST00000199350] [ENSMUST00000199531] [ENSMUST00000199854] [ENSMUST00000200532]
AlphaFold Q9JK48
Predicted Effect probably damaging
Transcript: ENSMUST00000163279
AA Change: D329E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129800
Gene: ENSMUSG00000037062
AA Change: D329E

DomainStartEndE-ValueType
BAR 10 254 6.4e-89 SMART
SH3 308 365 1.57e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000198254
AA Change: D350E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143312
Gene: ENSMUSG00000037062
AA Change: D350E

DomainStartEndE-ValueType
BAR 10 275 1.12e-88 SMART
SH3 329 386 1.57e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000199350
AA Change: D139E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143031
Gene: ENSMUSG00000037062
AA Change: D139E

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000199531
AA Change: D329E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143433
Gene: ENSMUSG00000037062
AA Change: D329E

DomainStartEndE-ValueType
BAR 10 254 1.7e-91 SMART
SH3 308 355 6.4e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000199854
AA Change: D358E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142716
Gene: ENSMUSG00000037062
AA Change: D358E

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.8%
Validation Efficiency 98% (50/51)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,182,931 (GRCm39) E1042V probably benign Het
Ahnak2 T C 12: 112,747,750 (GRCm39) E1035G probably benign Het
Aip T G 19: 4,165,188 (GRCm39) D227A probably benign Het
Ankrd13d T C 19: 4,323,081 (GRCm39) H283R probably damaging Het
Aox4 C T 1: 58,303,094 (GRCm39) T1175I probably damaging Het
Atn1 T C 6: 124,723,700 (GRCm39) probably benign Het
Camkk2 A G 5: 122,902,187 (GRCm39) S41P probably damaging Het
Ceacam16 G A 7: 19,595,182 (GRCm39) probably benign Het
Dcaf15 T C 8: 84,824,626 (GRCm39) N524D possibly damaging Het
Dcaf7 A T 11: 105,928,077 (GRCm39) Y43F probably damaging Het
Epha3 T C 16: 63,433,287 (GRCm39) I453V probably benign Het
Etv1 A T 12: 38,915,640 (GRCm39) T413S possibly damaging Het
Evx2 A C 2: 74,489,606 (GRCm39) L53R probably damaging Het
Fam168b G A 1: 34,858,684 (GRCm39) A166V probably damaging Het
Fancm A T 12: 65,141,669 (GRCm39) Y430F probably benign Het
Fyb2 A G 4: 104,802,661 (GRCm39) T188A possibly damaging Het
Gabbr1 T C 17: 37,374,271 (GRCm39) I538T probably damaging Het
Glyctk T A 9: 106,033,691 (GRCm39) T208S possibly damaging Het
Golga7 T C 8: 23,735,904 (GRCm39) D114G probably damaging Het
Grip1 T C 10: 119,733,702 (GRCm39) probably null Het
Gtf2f1 G T 17: 57,311,161 (GRCm39) S351R probably damaging Het
Hook2 T C 8: 85,721,642 (GRCm39) L300P probably damaging Het
Hsf4 A G 8: 105,997,481 (GRCm39) S45G probably damaging Het
Iars1 T A 13: 49,876,190 (GRCm39) M825K probably damaging Het
Kcnj2 A G 11: 110,963,315 (GRCm39) I236V probably benign Het
Large2 G A 2: 92,197,433 (GRCm39) T354I probably benign Het
Mak C A 13: 41,206,828 (GRCm39) V101F probably benign Het
Mylk2 A G 2: 152,757,673 (GRCm39) probably null Het
Myo18b A T 5: 113,020,373 (GRCm39) probably null Het
Neb T A 2: 52,037,249 (GRCm39) H2955L probably benign Het
Neurl1a G C 19: 47,228,367 (GRCm39) G71A probably damaging Het
Ogfrl1 A T 1: 23,415,309 (GRCm39) L142Q probably damaging Het
Or11g27 C A 14: 50,771,612 (GRCm39) H248N probably damaging Het
Or1e27-ps1 A G 11: 73,556,160 (GRCm39) T242A probably damaging Het
P3h4 C A 11: 100,302,671 (GRCm39) A322S probably damaging Het
Piwil2 A C 14: 70,660,342 (GRCm39) probably null Het
Pkd2l2 A G 18: 34,561,297 (GRCm39) D435G probably damaging Het
Plekha6 A G 1: 133,207,145 (GRCm39) N567S probably null Het
Prss54 G A 8: 96,286,173 (GRCm39) P300L possibly damaging Het
Pxdn G A 12: 30,024,000 (GRCm39) R67Q probably damaging Het
Rapgef3 C A 15: 97,665,292 (GRCm39) probably benign Het
Sec24b C T 3: 129,782,550 (GRCm39) G1147S possibly damaging Het
Sh2b3 A T 5: 121,966,418 (GRCm39) probably null Het
Shmt2 C T 10: 127,353,731 (GRCm39) R478H probably benign Het
Slc1a6 A G 10: 78,637,671 (GRCm39) E399G probably benign Het
Slc22a23 T A 13: 34,528,542 (GRCm39) Y80F probably damaging Het
Slc25a19 A G 11: 115,506,377 (GRCm39) V272A probably benign Het
Stk32a A T 18: 43,446,474 (GRCm39) D308V probably damaging Het
Tenm3 T C 8: 48,707,657 (GRCm39) I1698V possibly damaging Het
Thoc5 G A 11: 4,865,497 (GRCm39) V359M probably benign Het
Tmpo C T 10: 90,998,800 (GRCm39) R329H probably benign Het
Trim8 T C 19: 46,503,626 (GRCm39) S393P probably benign Het
Vill A T 9: 118,895,932 (GRCm39) Y103F probably damaging Het
Zfp948 T G 17: 21,807,911 (GRCm39) F368V probably benign Het
Zpld1 C T 16: 55,053,962 (GRCm39) E277K probably damaging 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
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'- AGTCCATTCCAACGACACTG -3'
(R):5'- TGCCATATGCTTTGTCAAATGC -3'

Sequencing Primer
(F):5'- ATGGATTTTATCAGTGGCAGTTC -3'
(R):5'- GCTTTGTCAAATGCAATTGGTCC -3'
Posted On 2017-10-10