Incidental Mutation 'IGL01935:Gm10717'
ID 279157
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 # IGL01935
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 C T 6: 140,583,383 (GRCm39) probably benign Het
Akr1c12 A T 13: 4,322,244 (GRCm39) V266E probably damaging Het
Arhgef1 A G 7: 24,621,307 (GRCm39) T186A probably damaging Het
Atp8b5 A G 4: 43,366,638 (GRCm39) T801A probably benign Het
Card11 T A 5: 140,869,301 (GRCm39) I832F possibly damaging Het
Catsperg1 T C 7: 28,895,296 (GRCm39) probably null Het
Ccdc180 A G 4: 45,906,889 (GRCm39) T455A possibly damaging Het
Cfhr1 T A 1: 139,478,740 (GRCm39) Y210F probably benign Het
Chrna5 T C 9: 54,912,127 (GRCm39) V309A probably benign Het
Clstn2 A G 9: 97,345,521 (GRCm39) V609A probably damaging Het
Dnah6 T C 6: 73,037,126 (GRCm39) D3372G probably benign Het
Dtymk T C 1: 93,722,465 (GRCm39) K113E probably benign Het
Eef2k T C 7: 120,485,054 (GRCm39) F307S probably damaging Het
Flnc T A 6: 29,454,279 (GRCm39) V1864E probably damaging Het
Herc2 A G 7: 55,803,541 (GRCm39) Y2192C probably benign Het
Hkdc1 A T 10: 62,236,165 (GRCm39) V459E probably damaging Het
Iqsec3 T C 6: 121,360,951 (GRCm39) D969G probably damaging Het
Irf3 A G 7: 44,650,194 (GRCm39) T237A probably benign Het
Jade2 G A 11: 51,719,211 (GRCm39) T245I possibly damaging Het
Kctd8 A G 5: 69,497,707 (GRCm39) I313T possibly damaging Het
Kdm5a T A 6: 120,385,284 (GRCm39) S835R probably benign Het
Lama2 A C 10: 27,298,600 (GRCm39) H165Q probably damaging Het
Lrp1b T A 2: 41,158,367 (GRCm39) N1617Y probably damaging Het
Mcc C T 18: 44,652,583 (GRCm39) probably null Het
Mfsd14b T A 13: 65,215,739 (GRCm39) M405L probably benign Het
Myom3 T A 4: 135,515,692 (GRCm39) F794I probably damaging Het
Napsa G T 7: 44,236,046 (GRCm39) A362S probably benign Het
Ncf4 A T 15: 78,140,186 (GRCm39) D195V probably damaging Het
Or11g1 T C 14: 50,651,012 (GRCm39) F4L probably benign Het
Pank4 T G 4: 155,063,987 (GRCm39) D659E probably damaging Het
Pcnx1 T A 12: 81,964,590 (GRCm39) D252E probably benign Het
Pglyrp2 G A 17: 32,637,551 (GRCm39) A159V probably benign Het
Phaf1 T C 8: 105,966,633 (GRCm39) F127L probably damaging Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Ppfia4 A G 1: 134,245,674 (GRCm39) S627P probably benign Het
Ppp1r15b T C 1: 133,059,761 (GRCm39) F93L probably benign Het
Pramel13 C T 4: 144,119,172 (GRCm39) probably benign Het
Qrfpr A T 3: 36,235,200 (GRCm39) probably null Het
Rapgef4 C A 2: 72,064,467 (GRCm39) T623K probably benign Het
Rapgef6 A G 11: 54,501,668 (GRCm39) T184A possibly damaging Het
Ssrp1 T C 2: 84,877,056 (GRCm39) *709Q probably null Het
St7 T G 6: 17,930,822 (GRCm39) I442S probably damaging Het
Syne2 T A 12: 75,972,087 (GRCm39) H992Q probably damaging Het
Syt14 T C 1: 192,615,679 (GRCm39) R436G probably damaging Het
Tbc1d5 A G 17: 51,270,793 (GRCm39) probably benign Het
Thsd7a T A 6: 12,317,418 (GRCm39) N1630I probably damaging Het
Tinagl1 T C 4: 130,061,794 (GRCm39) K180R probably damaging Het
Tmed7 T C 18: 46,730,190 (GRCm39) T54A probably benign Het
Tmprss2 A T 16: 97,379,795 (GRCm39) Y48* probably null Het
Tns2 C T 15: 102,020,069 (GRCm39) probably null Het
Unc13d T C 11: 115,960,577 (GRCm39) M496V probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zbtb39 A G 10: 127,578,235 (GRCm39) T270A probably benign Het
Zfr T C 15: 12,180,798 (GRCm39) S976P probably benign Het
Zscan29 A G 2: 121,000,538 (GRCm39) F23S probably damaging 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
IGL01920: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
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