Incidental Mutation 'R6304:Sh3gl1'
ID 509218
Institutional Source Beutler Lab
Gene Symbol Sh3gl1
Ensembl Gene ENSMUSG00000003200
Gene Name SH3-domain GRB2-like 1
Synonyms endophilin A2, EEN, endophilin II, Sh3d2b, SH3P8
MMRRC Submission 044380-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6304 (G1)
Quality Score 199.009
Status Not validated
Chromosome 17
Chromosomal Location 56323750-56343635 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56343431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 10 (F10Y)
Ref Sequence ENSEMBL: ENSMUSP00000003268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002914] [ENSMUST00000003268]
AlphaFold Q62419
Predicted Effect probably benign
Transcript: ENSMUST00000002914
SMART Domains Protein: ENSMUSP00000002914
Gene: ENSMUSG00000002835

DomainStartEndE-ValueType
Pfam:CAF1-p150_N 1 210 3.8e-59 PFAM
low complexity region 263 286 N/A INTRINSIC
Pfam:CAF-1_p150 299 458 1e-49 PFAM
low complexity region 466 481 N/A INTRINSIC
Pfam:CAF1A 537 611 1.1e-25 PFAM
Pfam:CAF1-p150_C2 644 908 1.6e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000003268
AA Change: F10Y

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000003268
Gene: ENSMUSG00000003200
AA Change: F10Y

DomainStartEndE-ValueType
BAR 5 242 1.05e-98 SMART
low complexity region 250 264 N/A INTRINSIC
SH3 309 364 7.62e-22 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol9b T A 15: 77,619,504 (GRCm39) V100E probably damaging Het
Bin3 A G 14: 70,374,625 (GRCm39) D218G possibly damaging Het
Cbll1 A G 12: 31,544,588 (GRCm39) probably null Het
Cped1 A T 6: 22,016,922 (GRCm39) R90S probably benign Het
Csmd1 A T 8: 16,108,688 (GRCm39) L1905Q probably damaging Het
Dnai4 T C 4: 102,944,553 (GRCm39) E266G probably benign Het
Elapor1 A C 3: 108,368,572 (GRCm39) C806W probably damaging Het
Etaa1 A C 11: 17,897,505 (GRCm39) M204R probably damaging Het
G6pc1 A G 11: 101,258,735 (GRCm39) D38G probably damaging Het
Gramd4 A G 15: 86,019,120 (GRCm39) E596G possibly damaging Het
Ifna5 T C 4: 88,754,147 (GRCm39) V129A probably benign Het
Igsf9b C T 9: 27,253,871 (GRCm39) R1354W probably benign Het
Kcnh3 T C 15: 99,124,919 (GRCm39) V123A probably benign Het
Kcnh7 A T 2: 62,594,960 (GRCm39) Y703* probably null Het
Kdm2b A G 5: 123,019,807 (GRCm39) S260P probably benign Het
Kdm6b G T 11: 69,295,084 (GRCm39) T1061K unknown Het
Lingo4 G A 3: 94,310,513 (GRCm39) G484R probably damaging Het
Lpar1 T C 4: 58,487,013 (GRCm39) Y86C probably damaging Het
Lrrc10b T C 19: 10,434,342 (GRCm39) Q113R probably benign Het
Lrrc8c A T 5: 105,756,475 (GRCm39) N750I probably benign Het
Miip T C 4: 147,947,540 (GRCm39) M207V probably benign Het
Mtcl2 T C 2: 156,882,684 (GRCm39) N456S possibly damaging Het
Mup4 T C 4: 59,960,084 (GRCm39) H60R possibly damaging Het
Naip5 C T 13: 100,359,674 (GRCm39) A521T possibly damaging Het
Nrp2 T C 1: 62,784,565 (GRCm39) L238P probably damaging Het
Nup155 T C 15: 8,147,526 (GRCm39) S262P probably damaging Het
Or51k1 G A 7: 103,661,238 (GRCm39) L224F probably damaging Het
Osbpl3 A G 6: 50,289,654 (GRCm39) S604P probably damaging Het
Pcdhb6 C T 18: 37,468,974 (GRCm39) R632* probably null Het
Pcdhb9 T A 18: 37,534,420 (GRCm39) V138E probably damaging Het
Pclo A T 5: 14,727,907 (GRCm39) probably benign Het
Phyhipl A G 10: 70,395,387 (GRCm39) probably null Het
Plcg1 A G 2: 160,603,383 (GRCm39) T1185A possibly damaging Het
Pomt1 T A 2: 32,140,802 (GRCm39) L478Q probably damaging Het
Robo2 T A 16: 73,755,196 (GRCm39) Y779F probably damaging Het
Sesn3 A T 9: 14,233,857 (GRCm39) probably null Het
Spata31h1 T A 10: 82,126,202 (GRCm39) K2269N possibly damaging Het
Spsb1 C T 4: 149,991,188 (GRCm39) V127I probably benign Het
Taf4b T C 18: 14,940,412 (GRCm39) I297T probably damaging Het
Trim14 C A 4: 46,522,118 (GRCm39) M186I probably benign Het
Ttn G T 2: 76,746,079 (GRCm39) probably benign Het
Ttn A T 2: 76,721,443 (GRCm39) probably benign Het
Usp54 T C 14: 20,611,036 (GRCm39) D1260G possibly damaging Het
Vmn1r3 T A 4: 3,184,975 (GRCm39) T111S probably damaging Het
Vmn2r51 T C 7: 9,832,164 (GRCm39) Q474R probably benign Het
Other mutations in Sh3gl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Sh3gl1 APN 17 56,326,325 (GRCm39) missense possibly damaging 0.48
IGL02721:Sh3gl1 APN 17 56,324,577 (GRCm39) missense possibly damaging 0.91
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
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
Predicted Primers PCR Primer
(F):5'- GCATAGCCTGGAGACTTTGG -3'
(R):5'- TGCCATGTAATATCCCGGCC -3'

Sequencing Primer
(F):5'- CGAACTTACGTTGTAAAGCCTGGC -3'
(R):5'- TAATATCCCGGCCGCGCG -3'
Posted On 2018-04-02