Incidental Mutation 'IGL02682:Gm5624'
ID 303382
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5624
Ensembl Gene ENSMUSG00000092165
Gene Name predicted gene 5624
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # IGL02682
Quality Score
Status
Chromosome 14
Chromosomal Location 44794603-44865381 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44797469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 108 (I108T)
Ref Sequence ENSEMBL: ENSMUSP00000136815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178184] [ENSMUST00000227882] [ENSMUST00000228629]
AlphaFold J3QK24
Predicted Effect unknown
Transcript: ENSMUST00000165769
AA Change: I151T
SMART Domains Protein: ENSMUSP00000126636
Gene: ENSMUSG00000092165
AA Change: I151T

DomainStartEndE-ValueType
Pfam:Takusan 57 137 1.2e-27 PFAM
coiled coil region 152 185 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000178184
AA Change: I108T

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136815
Gene: ENSMUSG00000092165
AA Change: I108T

DomainStartEndE-ValueType
Pfam:Takusan 13 93 2.2e-27 PFAM
coiled coil region 109 142 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226445
Predicted Effect possibly damaging
Transcript: ENSMUST00000227882
AA Change: I107T

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000228629
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,367,823 (GRCm39) S113P probably benign Het
Arhgdib A T 6: 136,901,166 (GRCm39) W188R probably damaging Het
Bcr T A 10: 75,001,878 (GRCm39) N927K possibly damaging Het
Cd209c A G 8: 3,990,324 (GRCm39) Y165H probably damaging Het
Cnnm2 A G 19: 46,750,515 (GRCm39) K102E probably benign Het
Col12a1 T C 9: 79,606,623 (GRCm39) E600G probably damaging Het
Ddx4 A T 13: 112,758,720 (GRCm39) H280Q probably benign Het
Eya4 T C 10: 22,992,498 (GRCm39) Y462C probably damaging Het
Fibcd1 T A 2: 31,728,576 (GRCm39) I94F probably damaging Het
Gm4846 C A 1: 166,322,195 (GRCm39) G124V probably damaging Het
Gpr179 A T 11: 97,242,691 (GRCm39) M51K probably benign Het
Hck A G 2: 152,976,054 (GRCm39) I198V probably damaging Het
Kcnd2 T A 6: 21,216,924 (GRCm39) C209* probably null Het
Klhl1 T A 14: 96,438,778 (GRCm39) I507F possibly damaging Het
Knl1 A T 2: 118,908,450 (GRCm39) K1693N possibly damaging Het
Mcam T C 9: 44,051,714 (GRCm39) V490A possibly damaging Het
Mrgprx1 A T 7: 47,671,740 (GRCm39) D2E probably damaging Het
Mtg1 T C 7: 139,724,642 (GRCm39) probably benign Het
Myof C A 19: 37,909,929 (GRCm39) R1512L probably benign Het
Nrp2 C T 1: 62,810,996 (GRCm39) T679I probably benign Het
Nwd2 C A 5: 63,962,020 (GRCm39) L535I probably benign Het
Nwd2 T A 5: 63,962,021 (GRCm39) L535H probably damaging Het
Or4f14b T A 2: 111,775,285 (GRCm39) N172I probably damaging Het
Or52j3 A T 7: 102,836,221 (GRCm39) I138F probably damaging Het
Or5b94 T C 19: 12,652,033 (GRCm39) S155P probably damaging Het
Phkb A G 8: 86,602,275 (GRCm39) *41W probably null Het
Prl5a1 T A 13: 28,329,403 (GRCm39) N27K probably benign Het
Rims1 T C 1: 22,358,708 (GRCm39) T1292A probably damaging Het
Rnf38 G A 4: 44,133,745 (GRCm39) A376V probably damaging Het
Slc34a2 T C 5: 53,216,580 (GRCm39) V117A possibly damaging Het
Slfn8 A T 11: 82,894,517 (GRCm39) F707L probably damaging Het
Snx16 G A 3: 10,503,235 (GRCm39) P4L probably damaging Het
Snx6 T C 12: 54,801,130 (GRCm39) D289G probably damaging Het
St8sia3 G T 18: 64,402,750 (GRCm39) V130F probably damaging Het
U2surp A G 9: 95,363,704 (GRCm39) probably null Het
Ubqln3 A G 7: 103,791,272 (GRCm39) F273L probably benign Het
Vmn2r101 A T 17: 19,832,507 (GRCm39) R834S possibly damaging Het
Vmn2r18 G T 5: 151,508,102 (GRCm39) H341N probably damaging Het
Vrk3 A G 7: 44,403,244 (GRCm39) I2V probably benign Het
Zglp1 A G 9: 20,977,534 (GRCm39) S94P probably benign Het
Other mutations in Gm5624
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02502:Gm5624 APN 14 44,797,296 (GRCm39) critical splice donor site probably null
IGL03145:Gm5624 APN 14 44,798,222 (GRCm39) missense possibly damaging 0.50
IGL03212:Gm5624 APN 14 44,798,167 (GRCm39) missense probably benign 0.01
R1800:Gm5624 UTSW 14 44,799,302 (GRCm39) missense probably damaging 1.00
R6136:Gm5624 UTSW 14 44,797,333 (GRCm39) missense probably benign 0.17
R6727:Gm5624 UTSW 14 44,799,332 (GRCm39) missense possibly damaging 0.52
R7512:Gm5624 UTSW 14 44,799,312 (GRCm39) missense
R7662:Gm5624 UTSW 14 44,799,390 (GRCm39) missense possibly damaging 0.94
R7950:Gm5624 UTSW 14 44,798,190 (GRCm39) missense
R8411:Gm5624 UTSW 14 44,799,347 (GRCm39) missense
R8413:Gm5624 UTSW 14 44,799,347 (GRCm39) missense
R9355:Gm5624 UTSW 14 44,799,272 (GRCm39) nonsense probably null
Posted On 2015-04-16