Incidental Mutation 'R1422:Gm17535'
ID239210
Institutional Source Beutler Lab
Gene Symbol Gm17535
Ensembl Gene ENSMUSG00000096736
Gene Namepredicted gene, 17535
Synonyms
MMRRC Submission 039478-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.434) question?
Stock #R1422 (G1)
Quality Score47.1
Status Validated
Chromosome9
Chromosomal Location3034599-3035805 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3035804 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 224 (Y224C)
Ref Sequence ENSEMBL: ENSMUSP00000135988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099042] [ENSMUST00000099051] [ENSMUST00000099056] [ENSMUST00000155807] [ENSMUST00000177969] [ENSMUST00000178641] [ENSMUST00000179264] [ENSMUST00000179839]
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: 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: ENSMUST00000099056
SMART Domains Protein: ENSMUSP00000096655
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_1 1 50 9.96e-8 PROSPERO
transmembrane domain 67 89 N/A INTRINSIC
internal_repeat_1 117 223 9.96e-8 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000155807
SMART Domains Protein: ENSMUSP00000136448
Gene: ENSMUSG00000096201

DomainStartEndE-ValueType
internal_repeat_1 1 48 2.67e-7 PROSPERO
transmembrane domain 77 99 N/A INTRINSIC
internal_repeat_1 117 165 2.67e-7 PROSPERO
transmembrane domain 186 208 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177969
SMART Domains Protein: ENSMUSP00000137129
Gene: ENSMUSG00000096201

DomainStartEndE-ValueType
internal_repeat_1 1 49 2.44e-6 PROSPERO
transmembrane domain 69 91 N/A INTRINSIC
internal_repeat_1 117 185 2.44e-6 PROSPERO
transmembrane domain 197 219 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000178641
AA Change: Y224C

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135988
Gene: ENSMUSG00000096736
AA Change: Y224C

DomainStartEndE-ValueType
internal_repeat_1 1 49 1.86e-5 PROSPERO
transmembrane domain 67 89 N/A INTRINSIC
internal_repeat_1 117 185 1.86e-5 PROSPERO
transmembrane domain 196 218 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: ENSMUST00000179839
SMART Domains Protein: ENSMUSP00000136837
Gene: ENSMUSG00000095891

DomainStartEndE-ValueType
internal_repeat_1 1 46 1.07e-7 PROSPERO
transmembrane domain 67 89 N/A INTRINSIC
internal_repeat_1 117 182 1.07e-7 PROSPERO
transmembrane domain 197 219 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195989
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.6%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,477,276 T170A probably benign Het
3110002H16Rik G A 18: 12,181,623 D87N probably damaging Het
4931408C20Rik C G 1: 26,682,466 S1211T possibly damaging Het
Arhgap5 T A 12: 52,519,514 D1089E probably damaging Het
Atrn T C 2: 130,957,914 Y404H probably damaging Het
Becn1 T C 11: 101,295,126 D98G possibly damaging Het
Coro2b A G 9: 62,428,947 probably null Het
Cpne4 T C 9: 104,900,285 I143T probably damaging Het
Cr2 A G 1: 195,171,125 I35T probably benign Het
Ctns T C 11: 73,185,246 Y321C probably damaging Het
Cyp4f16 A T 17: 32,542,999 M174L probably damaging Het
Dpy19l4 T C 4: 11,317,168 E10G possibly damaging Het
Dtx3 T A 10: 127,191,289 I339F possibly damaging Het
Fam184a A T 10: 53,675,208 M625K probably benign Het
Fgd6 A G 10: 94,045,372 E696G probably damaging Het
Gm14685 G T X: 73,127,655 G218C probably damaging Het
Gria1 T A 11: 57,189,788 L199Q probably benign Het
Hk1 T C 10: 62,296,094 D184G probably null Het
Ift88 G A 14: 57,472,979 V403M probably damaging Het
Ift88 T C 14: 57,438,301 probably benign Het
Igsf1 C A X: 49,782,936 G737* probably null Het
Kif19a A G 11: 114,785,809 D488G probably benign Het
Lpcat2 T C 8: 92,879,417 L232P probably damaging Het
Ly9 A G 1: 171,601,212 V280A probably damaging Het
Macrod2 T A 2: 140,419,941 probably null Het
Mmp1a A G 9: 7,464,298 probably null Het
Mmrn2 A G 14: 34,396,239 H80R probably damaging Het
Olfr1156 G A 2: 87,950,095 T46I probably benign Het
Olfr124 T C 17: 37,805,363 Y73H probably damaging Het
Olfr564 G A 7: 102,803,850 R124H probably benign Het
Pkd1l3 C A 8: 109,621,708 P194H unknown Het
Plk2 A G 13: 110,399,489 M576V probably damaging Het
Pms2 T A 5: 143,913,705 S113T probably damaging Het
Ptprk A G 10: 28,475,280 I590V possibly damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rad17 A G 13: 100,645,082 L69P probably benign Het
Robo2 G A 16: 73,978,448 T466M probably damaging Het
Sema6a A G 18: 47,306,431 C9R probably benign Het
Slc6a19 A G 13: 73,685,869 S357P probably benign Het
Spock3 T C 8: 63,143,989 I109T possibly damaging Het
Svs6 T C 2: 164,317,660 probably null Het
Tenm4 A T 7: 96,550,051 D17V probably damaging Het
Trp53bp2 T A 1: 182,446,464 M558K probably benign Het
Ttn T C 2: 76,741,670 E26293G probably damaging Het
Vmn1r29 A G 6: 58,307,886 Y197C probably damaging Het
Wdfy3 A T 5: 101,884,214 probably benign Het
Zfp366 A G 13: 99,229,296 K322E probably damaging Het
Other mutations in Gm17535
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Gm17535 APN 9 3035111 missense probably benign
R0153:Gm17535 UTSW 9 3035786 missense probably benign
R0646:Gm17535 UTSW 9 3035804 missense probably null 0.86
R1286:Gm17535 UTSW 9 3035786 missense probably benign
R1403:Gm17535 UTSW 9 3035804 missense probably null 0.86
R1404:Gm17535 UTSW 9 3035804 missense probably null 0.86
R1406:Gm17535 UTSW 9 3035804 missense probably null 0.86
R4827:Gm17535 UTSW 9 3035786 missense probably benign
R5039:Gm17535 UTSW 9 3035786 missense probably benign
R5802:Gm17535 UTSW 9 3035758 missense probably benign 0.36
Predicted Primers
Posted On2014-10-03