Incidental Mutation 'R5752:Sh3gl3'
ID 444848
Institutional Source Beutler Lab
Gene Symbol Sh3gl3
Ensembl Gene ENSMUSG00000030638
Gene Name SH3-domain GRB2-like 3
Synonyms Sh3d2c2, endophilin A3, EEN-B2, endophilin III, SH3P13, Sh3d2c
MMRRC Submission 043357-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5752 (G1)
Quality Score 126
Status Validated
Chromosome 7
Chromosomal Location 81824581-81956618 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 81824696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032874] [ENSMUST00000177883] [ENSMUST00000177895] [ENSMUST00000179318]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032874
SMART Domains Protein: ENSMUSP00000032874
Gene: ENSMUSG00000030638

DomainStartEndE-ValueType
BAR 5 242 2.43e-89 SMART
SH3 288 343 5.77e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177883
SMART Domains Protein: ENSMUSP00000137207
Gene: ENSMUSG00000030638

DomainStartEndE-ValueType
Pfam:BAR 6 65 2.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177895
SMART Domains Protein: ENSMUSP00000137570
Gene: ENSMUSG00000030638

DomainStartEndE-ValueType
Pfam:BAR 6 65 8.5e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179150
Predicted Effect probably benign
Transcript: ENSMUST00000179318
SMART Domains Protein: ENSMUSP00000137621
Gene: ENSMUSG00000030638

DomainStartEndE-ValueType
BAR 1 207 1.23e-58 SMART
SH3 253 308 5.77e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179800
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180183
SMART Domains Protein: ENSMUSP00000136482
Gene: ENSMUSG00000030638

DomainStartEndE-ValueType
Pfam:BAR 1 153 3.8e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180243
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (58/59)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are normal and fertile. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmission and abnormal synaptic vesicle recycling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330017A19Rik C A 17: 47,200,966 (GRCm39) probably benign Het
Aldh1l2 C A 10: 83,356,244 (GRCm39) G49C probably damaging Het
Arhgap26 G A 18: 39,419,725 (GRCm39) E11K probably damaging Het
Asns C T 6: 7,689,365 (GRCm39) G46S probably damaging Het
Atrn G T 2: 130,748,464 (GRCm39) probably benign Het
Cep126 A C 9: 8,120,746 (GRCm39) Y92* probably null Het
Cfap69 T C 5: 5,639,204 (GRCm39) T567A probably damaging Het
Clgn T A 8: 84,123,670 (GRCm39) Y61N probably damaging Het
Col28a1 T G 6: 8,015,025 (GRCm39) K793N possibly damaging Het
Cxcl9 C A 5: 92,471,715 (GRCm39) M108I probably benign Het
Cyp4f37 A T 17: 32,850,306 (GRCm39) I318F probably damaging Het
Daam1 T C 12: 71,993,320 (GRCm39) M363T unknown Het
Dnajc13 A C 9: 104,069,973 (GRCm39) probably null Het
Entpd2 G A 2: 25,289,781 (GRCm39) probably benign Het
F3 T A 3: 121,526,053 (GRCm39) N205K probably damaging Het
Fat2 A T 11: 55,180,063 (GRCm39) F1426Y possibly damaging Het
Galnt6 A T 15: 100,602,007 (GRCm39) F267I probably damaging Het
Gm1322 G A 2: 67,014,979 (GRCm39) noncoding transcript Het
Hdgfl3 A C 7: 81,549,451 (GRCm39) S143A possibly damaging Het
Ints7 T A 1: 191,308,005 (GRCm39) D12E probably benign Het
Kank3 A G 17: 34,037,037 (GRCm39) T114A probably benign Het
Lrp1b A G 2: 41,185,624 (GRCm39) Y1364H probably damaging Het
Mef2b A G 8: 70,618,267 (GRCm39) T116A possibly damaging Het
Megf8 C T 7: 25,054,539 (GRCm39) T1885I probably damaging Het
Mrps11 A G 7: 78,433,343 (GRCm39) K30E probably benign Het
Naca T A 10: 127,877,797 (GRCm39) probably benign Het
Ncoa4-ps A G 12: 119,226,349 (GRCm39) noncoding transcript Het
Nhsl3 GGTG GGTGTG 4: 129,117,773 (GRCm39) probably null Het
Or2at1 T C 7: 99,417,155 (GRCm39) I262T probably benign Het
Paip2b C T 6: 83,808,252 (GRCm39) probably null Het
Plcb2 G T 2: 118,541,532 (GRCm39) probably benign Het
Plcd4 A G 1: 74,587,131 (GRCm39) probably null Het
Pnpla8 A G 12: 44,329,670 (GRCm39) N74S probably benign Het
Pot1b A T 17: 55,994,834 (GRCm39) I276N probably damaging Het
Qprt C T 7: 126,708,416 (GRCm39) G5D probably benign Het
Rab11fip1 T C 8: 27,646,614 (GRCm39) N154S probably damaging Het
Rin3 G A 12: 102,279,378 (GRCm39) probably benign Het
Sdf4 C T 4: 156,080,761 (GRCm39) P37S probably damaging Het
Selp A T 1: 163,964,811 (GRCm39) D491V probably damaging Het
Sp110 G C 1: 85,504,923 (GRCm39) probably benign Het
Spata31d1e T C 13: 59,891,016 (GRCm39) Y268C probably damaging Het
Tas2r134 A G 2: 51,517,880 (GRCm39) R120G probably damaging Het
Tgfbr3 T C 5: 107,287,673 (GRCm39) R509G probably benign Het
Tle3 T A 9: 61,314,753 (GRCm39) Y231N probably damaging Het
Top6bl C A 19: 4,676,048 (GRCm39) A695S probably benign Het
Ttc41 C T 10: 86,594,210 (GRCm39) T881I probably benign Het
Ttll8 T C 15: 88,816,931 (GRCm39) Y271C probably benign Het
Ttn A T 2: 76,778,328 (GRCm39) I1307K possibly damaging Het
Ube2k A G 5: 65,723,411 (GRCm39) D48G probably damaging Het
Vcan T C 13: 89,828,069 (GRCm39) T3126A probably damaging Het
Vps13d T C 4: 144,875,540 (GRCm39) T1656A probably benign Het
Zzz3 C A 3: 152,157,759 (GRCm39) S777R possibly damaging Het
Other mutations in Sh3gl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02616:Sh3gl3 APN 7 81,934,226 (GRCm39) splice site probably benign
IGL02989:Sh3gl3 APN 7 81,923,087 (GRCm39) missense probably benign 0.01
R1228:Sh3gl3 UTSW 7 81,824,723 (GRCm39) start codon destroyed probably null 0.18
R1801:Sh3gl3 UTSW 7 81,933,327 (GRCm39) missense possibly damaging 0.95
R2109:Sh3gl3 UTSW 7 81,920,008 (GRCm39) missense possibly damaging 0.94
R6881:Sh3gl3 UTSW 7 81,956,178 (GRCm39) missense possibly damaging 0.95
R7162:Sh3gl3 UTSW 7 81,933,350 (GRCm39) missense probably benign
R7570:Sh3gl3 UTSW 7 81,934,285 (GRCm39) missense probably benign
R7710:Sh3gl3 UTSW 7 81,933,294 (GRCm39) missense possibly damaging 0.83
R8029:Sh3gl3 UTSW 7 81,920,091 (GRCm39) missense probably benign 0.02
R8834:Sh3gl3 UTSW 7 81,955,999 (GRCm39) missense possibly damaging 0.91
R9641:Sh3gl3 UTSW 7 81,909,370 (GRCm39) missense probably damaging 1.00
R9733:Sh3gl3 UTSW 7 81,917,562 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCATTTGCATGCTGCCGAGG -3'
(R):5'- AGATTTACAACCGCCAGGGC -3'

Sequencing Primer
(F):5'- AGGCTCGACCAATGGGCTG -3'
(R):5'- GAGGAGGCACCAACACGC -3'
Posted On 2016-11-21