Incidental Mutation 'IGL02541:Sh3glb1'
ID 298249
Institutional Source Australian Phenomics Network (link to record)
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: 0.556) question?
Stock # IGL02541
Quality Score
Status
Chromosome 3
Chromosomal Location 144389439-144426096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144425801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 5 (D5G)
Ref Sequence ENSEMBL: ENSMUSP00000143433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163279] [ENSMUST00000198254] [ENSMUST00000199531] [ENSMUST00000199854]
AlphaFold Q9JK48
Predicted Effect probably damaging
Transcript: ENSMUST00000163279
AA Change: D5G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129800
Gene: ENSMUSG00000037062
AA Change: D5G

DomainStartEndE-ValueType
BAR 10 254 6.4e-89 SMART
SH3 308 365 1.57e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000198254
AA Change: D5G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143312
Gene: ENSMUSG00000037062
AA Change: D5G

DomainStartEndE-ValueType
BAR 10 275 1.12e-88 SMART
SH3 329 386 1.57e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000199531
AA Change: D5G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143433
Gene: ENSMUSG00000037062
AA Change: D5G

DomainStartEndE-ValueType
BAR 10 254 1.7e-91 SMART
SH3 308 355 6.4e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000199854
AA Change: D5G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142716
Gene: ENSMUSG00000037062
AA Change: D5G

DomainStartEndE-ValueType
BAR 10 283 1.8e-90 SMART
SH3 337 394 9.5e-17 SMART
Coding Region Coverage
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,113,881 (GRCm39) L917F possibly damaging Het
Abca6 A T 11: 110,103,093 (GRCm39) W833R probably damaging Het
Asb15 T A 6: 24,566,265 (GRCm39) V406D probably damaging Het
Bcl9l T C 9: 44,419,066 (GRCm39) V968A probably benign Het
Bend7 T C 2: 4,768,116 (GRCm39) probably null Het
Cadm2 C A 16: 66,679,770 (GRCm39) G21V possibly damaging Het
Cadm2 C A 16: 66,679,771 (GRCm39) probably null Het
Camta1 G A 4: 151,169,112 (GRCm39) T1191I probably benign Het
Cep152 C T 2: 125,447,274 (GRCm39) A425T probably damaging Het
Cep95 C A 11: 106,706,407 (GRCm39) Q554K probably damaging Het
Cgref1 A G 5: 31,091,502 (GRCm39) probably null Het
Clock T A 5: 76,410,519 (GRCm39) probably null Het
Cmc2 A G 8: 117,620,883 (GRCm39) F33L probably benign Het
Cnksr3 A G 10: 7,085,073 (GRCm39) V258A probably damaging Het
Col6a6 G T 9: 105,609,415 (GRCm39) N1624K probably benign Het
Cped1 T C 6: 22,120,988 (GRCm39) I356T probably benign Het
Dpy19l2 C T 9: 24,569,943 (GRCm39) V337I probably benign Het
E2f3 A T 13: 30,100,827 (GRCm39) probably null Het
Eif1ad A G 19: 5,418,445 (GRCm39) probably benign Het
Fam114a2 A T 11: 57,390,627 (GRCm39) D302E probably benign Het
Fign T C 2: 63,809,881 (GRCm39) N463S probably benign Het
Fzr1 T C 10: 81,205,867 (GRCm39) T220A probably damaging Het
Gm14496 G A 2: 181,642,186 (GRCm39) R619Q probably benign Het
Gm9966 T C 7: 95,607,991 (GRCm39) I104T unknown Het
Itgb7 G T 15: 102,131,892 (GRCm39) H230Q probably benign Het
Kif7 T C 7: 79,360,628 (GRCm39) H249R possibly damaging Het
Krtap4-2 T G 11: 99,525,792 (GRCm39) Q20P unknown Het
Mis18bp1 T C 12: 65,208,234 (GRCm39) T160A probably damaging Het
Mrps9 T C 1: 42,901,814 (GRCm39) probably null Het
Mynn T A 3: 30,665,752 (GRCm39) H461Q probably damaging Het
Naa25 A G 5: 121,562,594 (GRCm39) T459A possibly damaging Het
Niban3 A T 8: 72,055,426 (GRCm39) T279S probably benign Het
Notch1 C T 2: 26,358,515 (GRCm39) D1439N probably benign Het
Or2ag2b A G 7: 106,417,809 (GRCm39) E173G probably benign Het
Pals2 A G 6: 50,160,707 (GRCm39) I323V probably benign Het
Pcdhb3 A T 18: 37,435,198 (GRCm39) D388V probably damaging Het
Pold3 C T 7: 99,732,879 (GRCm39) G417S probably damaging Het
Pwwp3a G A 10: 80,064,273 (GRCm39) probably null Het
Rad17 A G 13: 100,769,951 (GRCm39) probably benign Het
Shank3 T A 15: 89,385,613 (GRCm39) Y167N probably damaging Het
Slc3a2 A T 19: 8,685,123 (GRCm39) Y292* probably null Het
Slc7a13 T A 4: 19,839,212 (GRCm39) probably benign Het
Snx18 A T 13: 113,731,302 (GRCm39) I564N probably damaging Het
Supt6 G A 11: 78,117,744 (GRCm39) R491C probably damaging Het
Tanc1 G T 2: 59,663,602 (GRCm39) G1120C probably damaging Het
Tnrc6b C A 15: 80,764,032 (GRCm39) D511E probably benign Het
Trio A G 15: 27,845,016 (GRCm39) probably benign Het
Trmt12 T A 15: 58,745,651 (GRCm39) W350R probably benign Het
Ttc1 T C 11: 43,629,648 (GRCm39) T173A probably benign Het
Ttc39d C A 17: 80,523,875 (GRCm39) T178K probably damaging Het
Ufl1 T A 4: 25,250,534 (GRCm39) E693V possibly damaging Het
Vamp2 G T 11: 68,979,977 (GRCm39) E16D unknown Het
Vmn2r-ps158 T A 7: 42,673,092 (GRCm39) probably benign Het
Wdr70 C T 15: 7,913,783 (GRCm39) W622* probably null Het
Zfp28 C T 7: 6,396,479 (GRCm39) Q305* probably null Het
Zfp653 C A 9: 21,967,079 (GRCm39) R602L probably damaging Het
Zzef1 T A 11: 72,763,475 (GRCm39) V1374E probably damaging Het
Other mutations in Sh3glb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9311:Sh3glb1 UTSW 3 144,397,659 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16