Incidental Mutation 'R8406:Sh3glb1'
ID 652398
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 067765-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.556) question?
Stock # R8406 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 144389439-144426096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 144397198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 383 (E383D)
Ref Sequence ENSEMBL: ENSMUSP00000143312 (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: E362D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129800
Gene: ENSMUSG00000037062
AA Change: E362D

DomainStartEndE-ValueType
BAR 10 254 6.4e-89 SMART
SH3 308 365 1.57e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000198254
AA Change: E383D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143312
Gene: ENSMUSG00000037062
AA Change: E383D

DomainStartEndE-ValueType
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

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 benign
Transcript: ENSMUST00000199531
SMART Domains Protein: ENSMUSP00000143433
Gene: ENSMUSG00000037062

DomainStartEndE-ValueType
BAR 10 254 1.7e-91 SMART
SH3 308 355 6.4e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000199854
AA Change: E391D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142716
Gene: ENSMUSG00000037062
AA Change: E391D

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,977,343 (GRCm39) F139L probably damaging Het
Adgrg6 A T 10: 14,343,082 (GRCm39) D288E probably benign Het
Agbl1 A G 7: 76,068,415 (GRCm39) E327G Het
Aipl1 T A 11: 71,922,332 (GRCm39) M126L possibly damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Arl3 A T 19: 46,530,823 (GRCm39) S157T probably benign Het
Armc3 A T 2: 19,240,365 (GRCm39) I41F probably damaging Het
Atg9a A C 1: 75,167,028 (GRCm39) Y8D probably damaging Het
Atp10b T G 11: 43,093,984 (GRCm39) H509Q probably benign Het
Cabyr C A 18: 12,883,804 (GRCm39) T97K probably benign Het
Ccdc91 T C 6: 147,438,920 (GRCm39) F174S possibly damaging Het
Cep350 A T 1: 155,798,164 (GRCm39) H1207Q probably benign Het
Clstn3 A T 6: 124,439,136 (GRCm39) N40K probably damaging Het
Col4a4 G A 1: 82,501,611 (GRCm39) P381S unknown Het
Cpne5 A T 17: 29,428,455 (GRCm39) F116Y probably benign Het
Csf2rb2 T C 15: 78,171,216 (GRCm39) T457A probably benign Het
Cyb5d2 T C 11: 72,679,959 (GRCm39) E112G probably benign Het
Cyp2b13 T C 7: 25,781,223 (GRCm39) F212L probably benign Het
Dlx6 T G 6: 6,863,779 (GRCm39) S134A probably benign Het
Egln1 A G 8: 125,638,489 (GRCm39) Y380H probably benign Het
Fbxl13 A T 5: 21,728,652 (GRCm39) I479N probably damaging Het
Fhip1a G T 3: 85,580,027 (GRCm39) P726Q probably benign Het
Fis1 A G 5: 136,991,865 (GRCm39) K20E probably benign Het
Foxk1 G T 5: 142,387,528 (GRCm39) V84L unknown Het
Gdf5 C A 2: 155,784,272 (GRCm39) G227W probably damaging Het
Ghrh T A 2: 157,175,656 (GRCm39) T13S probably benign Het
Gnb2 A G 5: 137,526,865 (GRCm39) L308P probably damaging Het
Grik2 A T 10: 49,148,863 (GRCm39) V574D probably damaging Het
Hydin A T 8: 111,336,543 (GRCm39) I5107F possibly damaging Het
Kl A T 5: 150,906,229 (GRCm39) Y533F probably benign Het
Man2b1 G T 8: 85,822,907 (GRCm39) R816L probably damaging Het
Myo5c T C 9: 75,182,823 (GRCm39) Y821H probably damaging Het
Myo7b A T 18: 32,092,866 (GRCm39) C2076S probably damaging Het
Naip6 C T 13: 100,436,784 (GRCm39) A580T possibly damaging Het
Nectin2 A T 7: 19,472,275 (GRCm39) V38E probably damaging Het
Or13a24 A T 7: 140,154,044 (GRCm39) probably benign Het
Osbpl9 T C 4: 108,921,770 (GRCm39) Y536C possibly damaging Het
Pcdh18 T G 3: 49,710,998 (GRCm39) I106L probably damaging Het
Pde4dip T C 3: 97,606,428 (GRCm39) K2149E probably benign Het
Pds5a A T 5: 65,803,681 (GRCm39) C588S probably benign Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pop1 T C 15: 34,529,316 (GRCm39) M812T probably benign Het
Pou2f3 T C 9: 43,051,153 (GRCm39) T178A probably damaging Het
Rab44 C T 17: 29,359,294 (GRCm39) A494V unknown Het
Ros1 G C 10: 51,977,941 (GRCm39) T1456S possibly damaging Het
Rubcnl T G 14: 75,289,425 (GRCm39) F644L probably damaging Het
Saraf C T 8: 34,632,602 (GRCm39) P227L probably benign Het
Sh3rf3 T C 10: 58,919,407 (GRCm39) V508A probably damaging Het
Sirt6 A T 10: 81,458,328 (GRCm39) H308Q probably benign Het
Slc29a1 T A 17: 45,900,706 (GRCm39) I119F probably damaging Het
Smtnl1 C T 2: 84,648,742 (GRCm39) E171K probably benign Het
Spg11 T A 2: 121,923,923 (GRCm39) E799D probably damaging Het
Tecpr1 A T 5: 144,137,658 (GRCm39) W894R probably damaging Het
Tiam2 A C 17: 3,558,065 (GRCm39) I1230L possibly damaging Het
Tnfrsf8 A G 4: 145,019,265 (GRCm39) L190P probably damaging Het
Trim35 C T 14: 66,534,724 (GRCm39) T69M possibly damaging Het
Ttll7 T C 3: 146,645,779 (GRCm39) Y546H probably benign Het
Ubash3b C T 9: 40,940,971 (GRCm39) G389R probably damaging Het
Vma21-ps C T 4: 52,497,034 (GRCm39) V71I probably damaging Het
Vmn1r43 T A 6: 89,847,414 (GRCm39) H24L possibly damaging Het
Vps37c T A 19: 10,687,719 (GRCm39) L60Q probably damaging Het
Ythdf2 A G 4: 131,931,946 (GRCm39) W405R probably damaging Het
Zfp775 T C 6: 48,597,637 (GRCm39) C504R probably damaging Het
Zfp82 A G 7: 29,761,652 (GRCm39) probably null Het
Zpr1 T A 9: 46,185,400 (GRCm39) I127N 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
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
R9311:Sh3glb1 UTSW 3 144,397,659 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACCATGCAGTTTTATTGGCAGAATG -3'
(R):5'- CACTGAACTGTCACTCCTGG -3'

Sequencing Primer
(F):5'- AGAATGGCCAGTTTCTGATGGC -3'
(R):5'- AACTGTCACTCCTGGCCGATG -3'
Posted On 2020-10-20