Incidental Mutation 'IGL02721:Sh3gl1'
ID 305017
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh3gl1
Ensembl Gene ENSMUSG00000003200
Gene Name SH3-domain GRB2-like 1
Synonyms endophilin A2, EEN, endophilin II, Sh3d2b, SH3P8
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02721
Quality Score
Status
Chromosome 17
Chromosomal Location 56323750-56343635 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56324577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 357 (L357P)
Ref Sequence ENSEMBL: ENSMUSP00000003268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003268] [ENSMUST00000149441] [ENSMUST00000159996] [ENSMUST00000162883]
AlphaFold Q62419
Predicted Effect possibly damaging
Transcript: ENSMUST00000003268
AA Change: L357P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000003268
Gene: ENSMUSG00000003200
AA Change: L357P

DomainStartEndE-ValueType
BAR 5 242 1.05e-98 SMART
low complexity region 250 264 N/A INTRINSIC
SH3 309 364 7.62e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131218
Predicted Effect probably benign
Transcript: ENSMUST00000149441
SMART Domains Protein: ENSMUSP00000119745
Gene: ENSMUSG00000003199

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
low complexity region 32 71 N/A INTRINSIC
low complexity region 172 185 N/A INTRINSIC
JAB_MPN 260 382 1.35e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153197
SMART Domains Protein: ENSMUSP00000125535
Gene: ENSMUSG00000003199

DomainStartEndE-ValueType
low complexity region 30 43 N/A INTRINSIC
Pfam:JAB 112 243 6.1e-11 PFAM
Pfam:Prok-JAB 125 258 1.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159340
SMART Domains Protein: ENSMUSP00000125555
Gene: ENSMUSG00000003199

DomainStartEndE-ValueType
low complexity region 10 27 N/A INTRINSIC
low complexity region 29 68 N/A INTRINSIC
low complexity region 169 182 N/A INTRINSIC
Blast:JAB_MPN 257 350 3e-55 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159420
Predicted Effect probably benign
Transcript: ENSMUST00000159996
SMART Domains Protein: ENSMUSP00000124644
Gene: ENSMUSG00000003199

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
low complexity region 32 71 N/A INTRINSIC
low complexity region 172 185 N/A INTRINSIC
JAB_MPN 260 382 1.35e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162883
SMART Domains Protein: ENSMUSP00000124128
Gene: ENSMUSG00000003199

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
low complexity region 32 71 N/A INTRINSIC
low complexity region 172 185 N/A INTRINSIC
Pfam:Prok-JAB 230 340 1.6e-8 PFAM
Pfam:JAB 236 311 1.7e-9 PFAM
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 member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal life span and no obvious phenotypic defects. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmissionand abnormal synaptic vesicle recycling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T A 9: 55,888,124 (GRCm39) I398L probably benign Het
4931414P19Rik A G 14: 54,823,202 (GRCm39) S332P probably damaging Het
Abca7 T C 10: 79,849,469 (GRCm39) S1877P possibly damaging Het
Adora2b G T 11: 62,155,931 (GRCm39) A127S probably damaging Het
Ahnak A G 19: 8,987,071 (GRCm39) K2785R probably benign Het
Anapc2 G A 2: 25,164,680 (GRCm39) W21* probably null Het
Atp7b A G 8: 22,512,493 (GRCm39) S457P probably benign Het
Catsperb A G 12: 101,591,556 (GRCm39) Q1046R probably null Het
Comp A T 8: 70,828,731 (GRCm39) N188Y probably damaging Het
Crnkl1 A T 2: 145,765,801 (GRCm39) I423K possibly damaging Het
Crtap A T 9: 114,210,707 (GRCm39) V289E probably damaging Het
Ctnna2 T C 6: 76,958,852 (GRCm39) N454S probably damaging Het
Dnah5 A T 15: 28,234,389 (GRCm39) probably null Het
Dstyk T G 1: 132,377,054 (GRCm39) V220G probably benign Het
E230025N22Rik C T 18: 36,828,664 (GRCm39) V5M probably damaging Het
Fam111a T G 19: 12,564,336 (GRCm39) N28K probably benign Het
Fbxo32 A G 15: 58,046,358 (GRCm39) I284T possibly damaging Het
Fgb A C 3: 82,950,674 (GRCm39) V360G possibly damaging Het
Gm3404 A T 5: 146,463,738 (GRCm39) R128* probably null Het
Hal G T 10: 93,343,360 (GRCm39) G535* probably null Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Igsf5 T A 16: 96,192,222 (GRCm39) S274T probably damaging Het
Kdm7a C T 6: 39,150,371 (GRCm39) A134T possibly damaging Het
Klhl25 G T 7: 75,516,648 (GRCm39) W518L probably damaging Het
Map1a A T 2: 121,134,518 (GRCm39) D1778V probably benign Het
Nif3l1 A G 1: 58,497,008 (GRCm39) D311G probably damaging Het
Numa1 A G 7: 101,649,118 (GRCm39) T950A probably benign Het
Nup54 A T 5: 92,565,716 (GRCm39) I406N possibly damaging Het
Or10ab5 G T 7: 108,245,582 (GRCm39) S67* probably null Het
Or2y1d T A 11: 49,321,468 (GRCm39) L55* probably null Het
Or6c210 C T 10: 129,495,824 (GRCm39) P50S probably benign Het
Or6c211 A T 10: 129,505,992 (GRCm39) I132N probably benign Het
Pcdhb18 T A 18: 37,623,084 (GRCm39) M138K probably benign Het
Pik3c2g A G 6: 139,682,699 (GRCm39) T27A probably benign Het
Plekhb2 A G 1: 34,908,445 (GRCm39) N163S probably benign Het
Ros1 G A 10: 52,048,927 (GRCm39) probably benign Het
Skint5 T A 4: 113,799,746 (GRCm39) D141V probably damaging Het
Slc10a5 A G 3: 10,399,595 (GRCm39) V355A probably benign Het
Speer1c T C 5: 10,293,883 (GRCm39) K106E probably damaging Het
Ssh2 G T 11: 77,345,551 (GRCm39) G1179* probably null Het
Syde2 A G 3: 145,707,759 (GRCm39) N566S probably damaging Het
Sytl1 T C 4: 132,986,189 (GRCm39) R149G probably benign Het
Tnpo2 A G 8: 85,781,319 (GRCm39) probably null Het
Top2b T C 14: 16,409,236 (GRCm38) L793P probably damaging Het
U2surp T A 9: 95,356,488 (GRCm39) E789D probably benign Het
Vps13c G A 9: 67,871,431 (GRCm39) probably benign Het
Zbtb34 C T 2: 33,301,270 (GRCm39) G424R probably damaging Het
Zfhx4 A G 3: 5,308,367 (GRCm39) D531G possibly damaging Het
Zfp787 C T 7: 6,135,463 (GRCm39) probably null Het
Other mutations in Sh3gl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Sh3gl1 APN 17 56,326,325 (GRCm39) missense possibly damaging 0.48
feroce UTSW 17 56,324,617 (GRCm39) missense possibly damaging 0.84
sauvage UTSW 17 56,326,038 (GRCm39) critical splice donor site probably null
R0092:Sh3gl1 UTSW 17 56,325,088 (GRCm39) missense probably benign 0.00
R0525:Sh3gl1 UTSW 17 56,324,873 (GRCm39) missense probably benign 0.00
R3684:Sh3gl1 UTSW 17 56,325,953 (GRCm39) missense possibly damaging 0.91
R3792:Sh3gl1 UTSW 17 56,325,949 (GRCm39) missense probably damaging 1.00
R4282:Sh3gl1 UTSW 17 56,343,456 (GRCm39) missense probably damaging 1.00
R4298:Sh3gl1 UTSW 17 56,326,173 (GRCm39) missense probably damaging 1.00
R5868:Sh3gl1 UTSW 17 56,326,119 (GRCm39) missense probably damaging 1.00
R6304:Sh3gl1 UTSW 17 56,343,431 (GRCm39) missense probably benign 0.01
R6379:Sh3gl1 UTSW 17 56,326,143 (GRCm39) missense probably damaging 1.00
R6523:Sh3gl1 UTSW 17 56,324,617 (GRCm39) missense possibly damaging 0.84
R7146:Sh3gl1 UTSW 17 56,324,646 (GRCm39) missense probably damaging 1.00
R7174:Sh3gl1 UTSW 17 56,324,846 (GRCm39) missense probably benign 0.01
R7922:Sh3gl1 UTSW 17 56,326,438 (GRCm39) missense probably damaging 1.00
R8248:Sh3gl1 UTSW 17 56,326,038 (GRCm39) critical splice donor site probably null
R8429:Sh3gl1 UTSW 17 56,325,821 (GRCm39) missense possibly damaging 0.94
R8460:Sh3gl1 UTSW 17 56,326,321 (GRCm39) missense probably benign 0.16
R9258:Sh3gl1 UTSW 17 56,325,911 (GRCm39) nonsense probably null
Posted On 2015-04-16