Incidental Mutation 'IGL01810:Gm4922'
ID 155798
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4922
Ensembl Gene ENSMUSG00000044624
Gene Name predicted gene 4922
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01810
Quality Score
Status
Chromosome 10
Chromosomal Location 18655475-18662541 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18659795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 309 (Q309R)
Ref Sequence ENSEMBL: ENSMUSP00000149756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055107] [ENSMUST00000216654]
AlphaFold Q8C0N0
Predicted Effect probably benign
Transcript: ENSMUST00000055107
AA Change: Q309R

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000055273
Gene: ENSMUSG00000044624
AA Change: Q309R

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
S_TKc 28 275 1.92e-75 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215162
Predicted Effect probably benign
Transcript: ENSMUST00000216654
AA Change: Q309R

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 G T 11: 101,308,185 (GRCm39) Y10* probably null Het
Aass C A 6: 23,107,633 (GRCm39) Q383H probably damaging Het
Bag1 T C 4: 40,936,657 (GRCm39) D333G probably damaging Het
Cap2 A G 13: 46,793,425 (GRCm39) probably benign Het
Col27a1 G T 4: 63,143,868 (GRCm39) A519S probably benign Het
Cr2 A G 1: 194,841,903 (GRCm39) V726A possibly damaging Het
Csmd2 A G 4: 128,374,638 (GRCm39) probably benign Het
Dennd4c A G 4: 86,717,788 (GRCm39) D595G possibly damaging Het
Ercc2 G T 7: 19,127,374 (GRCm39) R340L probably damaging Het
Espl1 A G 15: 102,206,640 (GRCm39) T35A probably benign Het
Fndc3a A G 14: 72,803,581 (GRCm39) Y525H probably benign Het
Gm5263 T C 1: 146,296,292 (GRCm39) noncoding transcript Het
Gm6563 A C 19: 23,653,751 (GRCm39) R180S probably damaging Het
Gpr182 C A 10: 127,586,733 (GRCm39) V73F probably damaging Het
Gramd1b C T 9: 40,227,069 (GRCm39) R179H probably damaging Het
Hk1 C T 10: 62,188,884 (GRCm39) A10T probably benign Het
Hmgn3 C A 9: 82,992,437 (GRCm39) probably benign Het
Il1b C T 2: 129,211,649 (GRCm39) E24K probably damaging Het
Itgb6 G T 2: 60,458,329 (GRCm39) Q475K probably benign Het
Lrrc74b A G 16: 17,363,422 (GRCm39) S368P probably benign Het
Mfsd2b T C 12: 4,916,469 (GRCm39) T234A possibly damaging Het
Muc6 A T 7: 141,237,327 (GRCm39) Y270N probably damaging Het
Naip6 A G 13: 100,424,603 (GRCm39) probably benign Het
Or4b13 A T 2: 90,082,476 (GRCm39) Y285* probably null Het
Pear1 G A 3: 87,659,608 (GRCm39) T742I probably damaging Het
Peli2 G A 14: 48,493,491 (GRCm39) V238I probably benign Het
Pira2 A G 7: 3,847,611 (GRCm39) L26P probably damaging Het
Pot1b A G 17: 55,969,521 (GRCm39) V549A possibly damaging Het
Prdm16 T C 4: 154,432,384 (GRCm39) Y295C probably benign Het
Ptprd A T 4: 76,058,744 (GRCm39) probably benign Het
Rap1gap A T 4: 137,443,466 (GRCm39) M145L probably benign Het
Setd7 A T 3: 51,440,388 (GRCm39) probably benign Het
Ssx2ip T C 3: 146,133,765 (GRCm39) I258T probably benign Het
Stard9 T C 2: 120,529,565 (GRCm39) Y1941H possibly damaging Het
Stxbp3 T C 3: 108,707,468 (GRCm39) E420G probably benign Het
Tpra1 T C 6: 88,886,324 (GRCm39) V101A probably damaging Het
Tpx2 G T 2: 152,726,155 (GRCm39) Q373H probably damaging Het
Ttn C T 2: 76,557,352 (GRCm39) R29914Q probably damaging Het
Ubr3 T C 2: 69,833,809 (GRCm39) probably null Het
Usp18 G A 6: 121,230,730 (GRCm39) G53D probably damaging Het
Vps13c A T 9: 67,863,062 (GRCm39) H3026L probably benign Het
Zan T C 5: 137,461,888 (GRCm39) E1097G unknown Het
Other mutations in Gm4922
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01818:Gm4922 APN 10 18,660,701 (GRCm39) missense unknown
IGL01931:Gm4922 APN 10 18,660,042 (GRCm39) missense probably benign 0.01
IGL02021:Gm4922 APN 10 18,660,225 (GRCm39) missense probably damaging 1.00
IGL02573:Gm4922 APN 10 18,659,423 (GRCm39) missense probably benign 0.05
IGL03305:Gm4922 APN 10 18,659,232 (GRCm39) nonsense probably null
R0149:Gm4922 UTSW 10 18,659,289 (GRCm39) missense probably benign 0.10
R0361:Gm4922 UTSW 10 18,659,289 (GRCm39) missense probably benign 0.10
R0564:Gm4922 UTSW 10 18,659,813 (GRCm39) missense possibly damaging 0.66
R1079:Gm4922 UTSW 10 18,660,086 (GRCm39) missense probably damaging 0.97
R1163:Gm4922 UTSW 10 18,659,469 (GRCm39) missense possibly damaging 0.83
R1164:Gm4922 UTSW 10 18,659,469 (GRCm39) missense possibly damaging 0.83
R1398:Gm4922 UTSW 10 18,659,496 (GRCm39) missense possibly damaging 0.65
R1458:Gm4922 UTSW 10 18,659,640 (GRCm39) nonsense probably null
R1867:Gm4922 UTSW 10 18,660,211 (GRCm39) missense possibly damaging 0.73
R1994:Gm4922 UTSW 10 18,659,388 (GRCm39) missense probably benign 0.10
R2146:Gm4922 UTSW 10 18,659,264 (GRCm39) missense probably benign
R2437:Gm4922 UTSW 10 18,659,829 (GRCm39) missense probably benign 0.00
R3551:Gm4922 UTSW 10 18,660,244 (GRCm39) missense probably benign 0.01
R3939:Gm4922 UTSW 10 18,660,362 (GRCm39) missense probably damaging 1.00
R4580:Gm4922 UTSW 10 18,659,432 (GRCm39) missense probably benign 0.00
R4602:Gm4922 UTSW 10 18,660,007 (GRCm39) nonsense probably null
R4704:Gm4922 UTSW 10 18,660,567 (GRCm39) missense probably benign 0.20
R4790:Gm4922 UTSW 10 18,659,916 (GRCm39) missense possibly damaging 0.58
R5478:Gm4922 UTSW 10 18,659,885 (GRCm39) missense probably benign
R5510:Gm4922 UTSW 10 18,659,745 (GRCm39) missense probably benign 0.00
R5694:Gm4922 UTSW 10 18,660,035 (GRCm39) missense possibly damaging 0.76
R6080:Gm4922 UTSW 10 18,660,500 (GRCm39) missense probably damaging 1.00
R6869:Gm4922 UTSW 10 18,660,263 (GRCm39) missense probably damaging 1.00
R6923:Gm4922 UTSW 10 18,659,616 (GRCm39) missense probably damaging 1.00
R7667:Gm4922 UTSW 10 18,660,096 (GRCm39) missense probably damaging 1.00
R8198:Gm4922 UTSW 10 18,659,340 (GRCm39) missense probably benign 0.00
R8270:Gm4922 UTSW 10 18,659,760 (GRCm39) missense probably benign 0.00
R8310:Gm4922 UTSW 10 18,659,536 (GRCm39) missense probably benign 0.09
R9454:Gm4922 UTSW 10 18,660,329 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04