Incidental Mutation 'IGL01945:Gm10718'
ID 279212
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm10718
Ensembl Gene ENSMUSG00000095186
Gene Name predicted gene 10718
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.627) question?
Stock # IGL01945
Quality Score
Status
Chromosome 9
Chromosomal Location 3023547-3025218 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3025118 bp (GRCm38)
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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181957
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A C 11: 110,083,304 probably benign Het
Acta2 A G 19: 34,251,854 V45A probably benign Het
Adam11 G A 11: 102,772,910 V305M probably damaging Het
Adcy1 A G 11: 7,161,891 K919E probably damaging Het
Afap1l1 T C 18: 61,756,863 T101A probably benign Het
Apbb2 T A 5: 66,400,251 D289V probably damaging Het
Appl1 A G 14: 26,928,655 V520A possibly damaging Het
Atp5g3 G A 2: 73,910,969 R9C probably benign Het
Atp8a2 A G 14: 60,026,160 L375P probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cavin1 A T 11: 100,970,420 F16Y probably benign Het
Ccdc185 C A 1: 182,748,876 V83L probably benign Het
Ccdc80 T A 16: 45,118,245 S772T probably damaging Het
Cntn4 T A 6: 106,437,904 V132E probably damaging Het
Coa5 A T 1: 37,429,898 C24S probably damaging Het
Col6a5 A T 9: 105,928,290 V1139D unknown Het
Ddx46 C A 13: 55,655,072 S469* probably null Het
Ep300 A G 15: 81,616,109 probably benign Het
Fcna A T 2: 25,627,835 M1K probably null Het
Gstm3 T C 3: 107,967,657 E93G probably damaging Het
Gtse1 A G 15: 85,871,547 T471A probably benign Het
Hepacam2 T A 6: 3,487,117 Y4F probably benign Het
Hipk1 T C 3: 103,744,004 I1148V possibly damaging Het
Il1r2 A G 1: 40,102,453 T9A possibly damaging Het
Kl A T 5: 150,988,937 D717V probably damaging Het
Krt75 G A 15: 101,570,164 T345M possibly damaging Het
Myo5a T A 9: 75,140,671 H260Q probably damaging Het
Nckap1l G A 15: 103,461,642 G156D probably damaging Het
Nlrp1b T G 11: 71,181,407 T537P probably damaging Het
Nudt17 A G 3: 96,707,039 I201T probably damaging Het
Olfr195 T C 16: 59,149,464 S205P probably benign Het
Olfr767 A T 10: 129,079,303 I220N probably damaging Het
Olfr845 A T 9: 19,339,332 S291C probably damaging Het
Padi6 T C 4: 140,741,924 D35G probably benign Het
Plcb1 A T 2: 135,220,791 Y107F probably benign Het
Plek2 T A 12: 78,892,148 H279L probably damaging Het
Plk2 A G 13: 110,399,054 D470G possibly damaging Het
Ranbp17 T C 11: 33,328,520 T116A possibly damaging Het
Rbck1 G A 2: 152,318,316 P481L probably damaging Het
Reps1 A G 10: 18,093,836 N229S probably benign Het
Rngtt T C 4: 33,339,073 W293R probably damaging Het
Robo1 A T 16: 72,962,226 I376F probably damaging Het
Ryr2 T A 13: 11,790,363 I872F probably damaging Het
Sgip1 T C 4: 102,966,242 Y707H probably damaging Het
Slc17a5 G T 9: 78,587,932 D12E probably benign Het
Slco1a5 T A 6: 142,243,989 probably null Het
Strap A G 6: 137,741,335 I146V probably benign Het
Tcim A T 8: 24,438,876 H7Q probably benign Het
Tgfbr3 A G 5: 107,121,358 probably null Het
Thada G T 17: 84,222,766 T1725N probably benign Het
Trhr T C 15: 44,197,144 V20A probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wnt5a A G 14: 28,518,562 N223S probably damaging Het
Other mutations in Gm10718
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01863:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01865:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01867:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01868:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01869:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01870:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01871:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01874:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01877:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01878:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01879:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01880:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01881:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01883:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01884:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01885:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01886:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01887:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01888:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01890:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01891:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01894:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01895:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01896:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01897:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01898:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01901:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01903:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01904:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01905:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01908:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01909:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01910:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01912:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01917:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01918:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01919:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01920:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01924:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01925:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01926:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01928:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01929:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01932:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01933:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01934:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01937:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01938:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01941:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01944:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01946:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01947:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01949:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01950:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01951:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01952:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01953:Gm10718 APN 9 3025118 missense probably benign 0.00
IGL01958:Gm10718 APN 9 3025118 missense probably benign 0.00
PIT4131001:Gm10718 UTSW 9 3024417 missense probably benign 0.01
PIT4142001:Gm10718 UTSW 9 3024417 missense probably benign 0.01
R4567:Gm10718 UTSW 9 3023716 missense probably benign 0.01
R4850:Gm10718 UTSW 9 3023716 missense probably benign 0.01
RF039:Gm10718 UTSW 9 3024385 frame shift probably null
Posted On 2015-04-16