Incidental Mutation 'IGL02592:Gm10717'
ID299770
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm10717
Ensembl Gene ENSMUSG00000095891
Gene Namepredicted gene 10717
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.795) question?
Stock #IGL02592
Quality Score
Status
Chromosome9
Chromosomal Location3025417-3033289 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 3026287 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 195 (Y195F)
Ref Sequence ENSEMBL: ENSMUSP00000096644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075573] [ENSMUST00000099042] [ENSMUST00000099046] [ENSMUST00000099047] [ENSMUST00000099051] [ENSMUST00000177601] [ENSMUST00000177875] [ENSMUST00000179264] [ENSMUST00000179982]
Predicted Effect probably damaging
Transcript: ENSMUST00000075573
AA Change: Y195F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096644
Gene: ENSMUSG00000095891
AA Change: Y195F

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: ENSMUST00000099042
SMART Domains Protein: ENSMUSP00000096640
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_1 1 47 9.09e-8 PROSPERO
transmembrane domain 76 98 N/A INTRINSIC
internal_repeat_1 117 164 9.09e-8 PROSPERO
transmembrane domain 195 217 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099046
SMART Domains Protein: ENSMUSP00000096645
Gene: ENSMUSG00000095186

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
AA Change: T45S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000136755
Gene: ENSMUSG00000095891
AA Change: T45S

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: ENSMUST00000179264
SMART Domains Protein: ENSMUSP00000137451
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_1 1 43 5.09e-6 PROSPERO
transmembrane domain 69 91 N/A INTRINSIC
internal_repeat_1 117 179 5.09e-6 PROSPERO
transmembrane domain 196 218 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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cadps G A 14: 12,473,465 R899C probably damaging Het
Cass4 T C 2: 172,416,328 L82P probably benign Het
Cd53 C A 3: 106,763,285 C144F probably damaging Het
Fancc G A 13: 63,360,197 R175W probably damaging Het
Gpr149 T C 3: 62,603,810 D256G possibly damaging Het
Kdm5b T A 1: 134,624,853 M1189K probably damaging Het
Lvrn T A 18: 46,850,591 C134S probably damaging Het
Mroh8 A T 2: 157,216,969 Y926N probably damaging Het
Nfxl1 A G 5: 72,514,229 S896P probably benign Het
Orc4 A T 2: 48,933,078 probably null Het
Pcsk6 T A 7: 65,969,028 H447Q probably damaging Het
Rfx6 C A 10: 51,716,023 Q121K probably damaging Het
Rnase6 T C 14: 51,130,525 Y125H probably benign Het
Sbno1 A T 5: 124,400,809 Y494N probably damaging Het
Sppl3 G A 5: 115,095,911 V347M probably damaging Het
Tlr12 G A 4: 128,617,686 T257M probably benign Het
Tmem132e A T 11: 82,434,636 D154V probably damaging Het
Zfp345 A G 2: 150,473,309 Y103H probably benign Het
Zfp947 T A 17: 22,146,252 Q147L possibly damaging Het
Other mutations in Gm10717
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01635:Gm10717 APN 9 3025511 missense probably damaging 1.00
IGL01635:Gm10717 APN 9 3025506 missense possibly damaging 0.46
IGL01864:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01865:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01865:Gm10717 APN 9 3026287 missense probably damaging 0.98
IGL01866:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01873:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01875:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01877:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01877:Gm10717 APN 9 3026287 missense probably damaging 0.98
IGL01878:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01879:Gm10717 APN 9 3026287 missense probably damaging 0.98
IGL01880:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01882:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01886:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01887:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01892:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01893:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01897:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01901:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01903:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01904:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01907:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01907:Gm10717 APN 9 3026287 missense probably damaging 0.98
IGL01908:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01913:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01919:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01920:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01923:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01925:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01927:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01930:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01931:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01932:Gm10717 APN 9 3026287 missense probably damaging 0.98
IGL01935:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01941:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01948:Gm10717 APN 9 3025819 missense probably damaging 1.00
IGL01949:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01951:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL01952:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL02106:Gm10717 APN 9 3026287 missense probably damaging 0.98
IGL02142:Gm10717 APN 9 3025616 missense probably benign 0.00
IGL02609:Gm10717 APN 9 3026287 missense probably damaging 0.98
IGL02802:Gm10717 UTSW 9 3031999 missense probably benign
R0277:Gm10717 UTSW 9 3025619 missense possibly damaging 0.79
R1813:Gm10717 UTSW 9 3026317 missense probably damaging 1.00
R1911:Gm10717 UTSW 9 3026317 missense probably damaging 1.00
R2399:Gm10717 UTSW 9 3025532 missense probably benign
R2874:Gm10717 UTSW 9 3025532 missense probably benign
R3617:Gm10717 UTSW 9 3025532 missense probably benign
R3720:Gm10717 UTSW 9 3025532 missense probably benign
R4988:Gm10717 UTSW 9 3026368 missense probably benign 0.00
R5002:Gm10717 UTSW 9 3025532 missense probably benign
R5117:Gm10717 UTSW 9 3025625 missense probably benign 0.00
R5367:Gm10717 UTSW 9 3026317 missense probably damaging 1.00
R5539:Gm10717 UTSW 9 3030438 missense probably damaging 1.00
R5623:Gm10717 UTSW 9 3026318 missense probably benign
Posted On2015-04-16