Incidental Mutation 'IGL01920:Gm10717'
ID 279118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm10717
Ensembl Gene ENSMUSG00000095891
Gene Name predicted gene 10717
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.810) question?
Stock # IGL01920
Quality Score
Status
Chromosome 9
Chromosomal Location 3025417-3033289 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3025616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 67 (S67L)
Ref Sequence ENSEMBL: ENSMUSP00000096644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075573] [ENSMUST00000099042] [ENSMUST00000099046] [ENSMUST00000099047] [ENSMUST00000099051] [ENSMUST00000177601] [ENSMUST00000177875] [ENSMUST00000179264] [ENSMUST00000179272] [ENSMUST00000179982]
AlphaFold D3Z1I8
Predicted Effect probably benign
Transcript: ENSMUST00000075573
AA Change: S67L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000096644
Gene: ENSMUSG00000095891
AA Change: S67L

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
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 noncoding transcript
Transcript: ENSMUST00000181572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181957
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: 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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 C T 8: 111,769,878 (GRCm39) R326W probably damaging Het
Acad11 T C 9: 103,941,104 (GRCm39) probably null Het
Acat2 A G 17: 13,162,912 (GRCm39) I312T probably benign Het
Adgrl3 T C 5: 81,613,143 (GRCm39) V192A probably damaging Het
Akap1 T C 11: 88,730,459 (GRCm39) H643R probably damaging Het
Akap7 A T 10: 25,165,501 (GRCm39) C85* probably null Het
Ankrd11 T C 8: 123,642,636 (GRCm39) probably benign Het
Ano1 G A 7: 144,165,191 (GRCm39) probably benign Het
Csnk1g2 T C 10: 80,474,262 (GRCm39) L161P probably damaging Het
Dvl2 A G 11: 69,898,873 (GRCm39) H420R probably benign Het
Fam135b G T 15: 71,493,885 (GRCm39) H15N possibly damaging Het
Foxj1 G T 11: 116,222,746 (GRCm39) H352Q possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Hectd1 T C 12: 51,829,337 (GRCm39) I969M probably damaging Het
Kcnh3 C A 15: 99,131,258 (GRCm39) P544T probably benign Het
Or7g35 A C 9: 19,496,318 (GRCm39) M162L probably benign Het
Pcnt A G 10: 76,240,362 (GRCm39) L1224P probably damaging Het
Prss2 A G 6: 41,501,477 (GRCm39) N182S possibly damaging Het
Sgsm1 A T 5: 113,421,471 (GRCm39) W594R probably damaging Het
Slc38a1 C T 15: 96,484,778 (GRCm39) A261T probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Vcan C T 13: 89,837,324 (GRCm39) G2740E probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vwa7 G A 17: 35,243,579 (GRCm39) V729I probably benign Het
Other mutations in Gm10717
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01635:Gm10717 APN 9 3,025,506 (GRCm39) missense possibly damaging 0.46
IGL01635:Gm10717 APN 9 3,025,511 (GRCm39) missense probably damaging 1.00
IGL01864:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01865:Gm10717 APN 9 3,026,287 (GRCm39) missense probably damaging 0.98
IGL01865:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01866:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01873:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01875:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01877:Gm10717 APN 9 3,026,287 (GRCm39) missense probably damaging 0.98
IGL01877:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01878:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01879:Gm10717 APN 9 3,026,287 (GRCm39) missense probably damaging 0.98
IGL01880:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01882:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01886:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01887:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01892:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01893:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01897:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01901:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01903:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01904:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01907:Gm10717 APN 9 3,026,287 (GRCm39) missense probably damaging 0.98
IGL01907:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01908:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01913:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01919:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01923:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01925:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01927:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01930:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01931:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01932:Gm10717 APN 9 3,026,287 (GRCm39) missense probably damaging 0.98
IGL01935:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01941:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01948:Gm10717 APN 9 3,025,819 (GRCm39) missense probably damaging 1.00
IGL01949:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01951:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL01952:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL02106:Gm10717 APN 9 3,026,287 (GRCm39) missense probably damaging 0.98
IGL02142:Gm10717 APN 9 3,025,616 (GRCm39) missense probably benign 0.00
IGL02592:Gm10717 APN 9 3,026,287 (GRCm39) missense probably damaging 0.98
IGL02609:Gm10717 APN 9 3,026,287 (GRCm39) missense probably damaging 0.98
IGL02802:Gm10717 UTSW 9 3,031,999 (GRCm39) missense probably benign
R0277:Gm10717 UTSW 9 3,025,619 (GRCm39) missense possibly damaging 0.79
R1813:Gm10717 UTSW 9 3,026,317 (GRCm39) missense probably damaging 1.00
R1911:Gm10717 UTSW 9 3,026,317 (GRCm39) missense probably damaging 1.00
R2399:Gm10717 UTSW 9 3,025,532 (GRCm39) missense probably benign
R2874:Gm10717 UTSW 9 3,025,532 (GRCm39) missense probably benign
R3617:Gm10717 UTSW 9 3,025,532 (GRCm39) missense probably benign
R3720:Gm10717 UTSW 9 3,025,532 (GRCm39) missense probably benign
R4988:Gm10717 UTSW 9 3,026,368 (GRCm39) missense probably benign 0.00
R5002:Gm10717 UTSW 9 3,025,532 (GRCm39) missense probably benign
R5117:Gm10717 UTSW 9 3,025,625 (GRCm39) missense probably benign 0.00
R5367:Gm10717 UTSW 9 3,026,317 (GRCm39) missense probably damaging 1.00
R5539:Gm10717 UTSW 9 3,030,438 (GRCm39) missense probably damaging 1.00
R5623:Gm10717 UTSW 9 3,026,318 (GRCm39) missense probably benign
Posted On 2015-04-16