Incidental Mutation 'IGL01917:Gm10718'
ID 279106
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm10718
Ensembl Gene ENSMUSG00000095186
Gene Name predicted gene 10718
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.509) question?
Stock # IGL01917
Quality Score
Status
Chromosome 9
Chromosomal Location 3023547-3025218 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3025118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 194 (Y194F)
Ref Sequence ENSEMBL: ENSMUSP00000096645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075573] [ENSMUST00000099046] [ENSMUST00000099047] [ENSMUST00000099051] [ENSMUST00000177601] [ENSMUST00000177875] [ENSMUST00000179272] [ENSMUST00000179982]
AlphaFold D3Z1I7
Predicted Effect probably benign
Transcript: ENSMUST00000075573
SMART Domains Protein: ENSMUSP00000096644
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_1 1 41 1.06e-10 PROSPERO
transmembrane domain 68 90 N/A INTRINSIC
internal_repeat_1 118 177 1.06e-10 PROSPERO
transmembrane domain 200 222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099046
AA Change: Y194F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000096645
Gene: ENSMUSG00000095186
AA Change: Y194F

DomainStartEndE-ValueType
internal_repeat_1 1 41 4.44e-7 PROSPERO
transmembrane domain 67 89 N/A INTRINSIC
internal_repeat_1 117 177 4.44e-7 PROSPERO
transmembrane domain 197 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099047
SMART Domains Protein: ENSMUSP00000096646
Gene: ENSMUSG00000095547

DomainStartEndE-ValueType
internal_repeat_1 1 40 1.58e-10 PROSPERO
transmembrane domain 53 72 N/A INTRINSIC
transmembrane domain 77 99 N/A INTRINSIC
internal_repeat_1 117 176 1.58e-10 PROSPERO
transmembrane domain 199 221 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099051
SMART Domains Protein: ENSMUSP00000096650
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_1 2 38 6.22e-5 PROSPERO
transmembrane domain 58 80 N/A INTRINSIC
transmembrane domain 90 109 N/A INTRINSIC
internal_repeat_1 118 174 6.22e-5 PROSPERO
transmembrane domain 185 207 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177601
SMART Domains Protein: ENSMUSP00000136755
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_2 1 24 2.26e-6 PROSPERO
internal_repeat_1 2 37 2.26e-6 PROSPERO
internal_repeat_1 40 95 2.26e-6 PROSPERO
internal_repeat_2 118 142 2.26e-6 PROSPERO
low complexity region 147 159 N/A INTRINSIC
low complexity region 169 183 N/A INTRINSIC
transmembrane domain 186 208 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177875
SMART Domains Protein: ENSMUSP00000137419
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_1 1 49 1.49e-11 PROSPERO
transmembrane domain 68 90 N/A INTRINSIC
internal_repeat_1 118 186 1.49e-11 PROSPERO
transmembrane domain 197 219 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181572
Predicted Effect probably benign
Transcript: ENSMUST00000179272
SMART Domains Protein: ENSMUSP00000136170
Gene: ENSMUSG00000095547

DomainStartEndE-ValueType
internal_repeat_1 1 49 2.1e-10 PROSPERO
transmembrane domain 74 96 N/A INTRINSIC
internal_repeat_1 118 186 2.1e-10 PROSPERO
transmembrane domain 198 217 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179982
SMART Domains Protein: ENSMUSP00000136365
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_1 1 35 7.76e-13 PROSPERO
transmembrane domain 67 89 N/A INTRINSIC
internal_repeat_1 117 152 7.76e-13 PROSPERO
low complexity region 157 169 N/A INTRINSIC
transmembrane domain 198 220 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 A T 13: 23,607,959 (GRCm39) M15K unknown Het
Adal A G 2: 120,973,035 (GRCm39) S31G possibly damaging Het
C2cd5 T C 6: 143,018,322 (GRCm39) Y300C probably benign Het
Chia1 T A 3: 106,035,536 (GRCm39) V184E probably damaging Het
Fat4 T A 3: 38,943,879 (GRCm39) V924D possibly damaging Het
Fstl5 A T 3: 76,615,153 (GRCm39) H738L probably damaging Het
Gimap4 T C 6: 48,667,854 (GRCm39) M75T probably benign Het
Gm10238 A T 15: 75,109,561 (GRCm39) noncoding transcript Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Gsdmc A G 15: 63,650,434 (GRCm39) Y307H probably benign Het
Iqub A G 6: 24,479,318 (GRCm39) L408P probably damaging Het
Lbx1 T A 19: 45,222,652 (GRCm39) K124* probably null Het
Naip2 C A 13: 100,298,591 (GRCm39) V482L probably benign Het
Or52e19 T A 7: 102,959,564 (GRCm39) L212* probably null Het
Pdcd11 C A 19: 47,089,604 (GRCm39) Q325K possibly damaging Het
Pik3c3 T A 18: 30,407,499 (GRCm39) S82R probably damaging Het
Pramel11 T A 4: 143,624,284 (GRCm39) E71V probably benign Het
Prickle1 T C 15: 93,401,408 (GRCm39) K359E probably damaging Het
Ptprj A G 2: 90,300,093 (GRCm39) V236A probably damaging Het
Serpinb3d T A 1: 107,007,411 (GRCm39) T192S probably damaging Het
Usp31 T C 7: 121,278,708 (GRCm39) N219S probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Other mutations in Gm10718
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01863:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01865:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01867:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01868:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01869:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01870:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01871:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01874:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01877:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01878:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01879:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01880:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01881:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01883:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01884:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01885:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01886:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01887:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01888:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01890:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01891:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01894:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01895:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01896:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01897:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01898:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01901:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01903:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01904:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01905:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01908:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01909:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01910:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01912:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01918:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01919:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01920:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01924:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01925:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01926:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01928:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01929:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01932:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01933:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01934:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01937:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01938:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01941:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01944:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01945:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01946:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01947:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01949:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01950:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01951:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01952:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01953:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
IGL01958:Gm10718 APN 9 3,025,118 (GRCm39) missense probably benign 0.00
PIT4131001:Gm10718 UTSW 9 3,024,417 (GRCm39) missense probably benign 0.01
PIT4142001:Gm10718 UTSW 9 3,024,417 (GRCm39) missense probably benign 0.01
R4567:Gm10718 UTSW 9 3,023,716 (GRCm39) missense probably benign 0.01
R4850:Gm10718 UTSW 9 3,023,716 (GRCm39) missense probably benign 0.01
RF039:Gm10718 UTSW 9 3,024,385 (GRCm39) frame shift probably null
Posted On 2015-04-16