Incidental Mutation 'IGL01918:Gm10718'
ID279110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm10718
Ensembl Gene ENSMUSG00000095186
Gene Namepredicted gene 10718
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.583) question?
Stock #IGL01918
Quality Score
Status
Chromosome9
Chromosomal Location3023547-3025218 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 3025118 bp
ZygosityHeterozygous
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]
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik T C 7: 42,447,674 Q71R probably benign Het
Ankfy1 T C 11: 72,740,455 V409A probably benign Het
Ap4m1 A G 5: 138,172,844 T69A probably damaging Het
B3gat2 A T 1: 23,845,128 K306* probably null Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Calr A G 8: 84,842,850 probably benign Het
Ccdc54 C T 16: 50,590,852 W17* probably null Het
Cd68 T C 11: 69,665,101 S204G possibly damaging Het
Cep128 A T 12: 91,234,210 I342K probably damaging Het
Ces1d T A 8: 93,178,075 I346L probably benign Het
Cfap70 T A 14: 20,425,399 D418V possibly damaging Het
Cntnap4 A T 8: 112,752,234 R197S possibly damaging Het
Ddx31 G T 2: 28,874,164 V461F probably damaging Het
Eps15l1 T C 8: 72,367,912 M714V possibly damaging Het
Fshb A T 2: 107,058,927 F11I probably benign Het
Fsip2 T G 2: 82,992,138 C6072G possibly damaging Het
Fuz T G 7: 44,896,959 L93R probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm8991 G A 5: 16,730,680 noncoding transcript Het
Itga11 C A 9: 62,772,996 N973K probably benign Het
Lca5 T A 9: 83,423,148 T202S probably damaging Het
Lrp1 G A 10: 127,554,589 L3053F probably damaging Het
Mapk13 T C 17: 28,775,330 Y129H probably damaging Het
Mast1 T A 8: 84,921,209 H512L probably damaging Het
Mlip T C 9: 77,173,999 N213S probably damaging Het
Mtcl1 C T 17: 66,368,268 G734R possibly damaging Het
Myo9a T A 9: 59,779,702 I30N probably damaging Het
Olfr142 A G 2: 90,252,331 I219T probably damaging Het
Pctp T C 11: 89,987,336 D124G probably benign Het
Phc3 A G 3: 30,914,416 probably null Het
Plat T A 8: 22,780,437 F457I possibly damaging Het
Snw1 T C 12: 87,455,668 K319E probably benign Het
Sox8 A G 17: 25,570,137 L129P probably damaging Het
Stc1 A T 14: 69,031,654 probably benign Het
Szt2 A G 4: 118,384,253 probably benign Het
Tmem81 T A 1: 132,507,960 V168D probably damaging Het
Ttc41 C A 10: 86,713,190 Q83K probably damaging Het
Ugt1a5 T C 1: 88,166,545 V165A probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps33b A G 7: 80,287,812 probably null Het
Zap70 T C 1: 36,778,787 Y290H possibly 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
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
IGL01945: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 On2015-04-16