Incidental Mutation 'R1404:Gm17535'
ID160496
Institutional Source Beutler Lab
Gene Symbol Gm17535
Ensembl Gene ENSMUSG00000096736
Gene Namepredicted gene, 17535
Synonyms
MMRRC Submission 039466-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.254) question?
Stock #R1404 (G1)
Quality Score122
Status Not 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: 99.0%
  • 3x: 96.4%
  • 10x: 81.1%
  • 20x: 48.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc3 A G 13: 80,883,854 T69A probably damaging Het
Bbs2 T C 8: 94,081,999 K360R probably null Het
Cdh8 A T 8: 99,279,618 N112K probably damaging Het
Ces5a A T 8: 93,502,181 F474I probably damaging Het
Doxl2 A T 6: 48,975,833 T231S probably benign Het
Dync1i1 G A 6: 5,915,876 D253N probably damaging Het
Fam151b T C 13: 92,473,972 D103G probably damaging Het
Fam227b A G 2: 126,003,839 L410P probably damaging Het
Ihh A T 1: 74,951,213 M1K probably null Het
Itga6 A G 2: 71,838,716 T617A probably benign Het
Itpr1 T A 6: 108,386,648 C744S probably benign Het
Kif5a T C 10: 127,245,442 I208V probably benign Het
Lama4 A G 10: 39,061,391 K659R probably benign Het
Lpin3 T A 2: 160,892,390 probably null Het
Macf1 T A 4: 123,376,516 E6612V probably damaging Het
Ncdn T C 4: 126,750,040 K330E probably benign Het
Neb C T 2: 52,183,275 D1975N possibly damaging Het
Nell1 T A 7: 50,853,873 N675K possibly damaging Het
Nlrp6 GAGAAGAAGAAGAAGAAGAAGA GAGAAGAAGAAGAAGAAGA 7: 140,924,113 probably benign Het
Olfr1317 G A 2: 112,142,623 R226H probably benign Het
Rnf43 A G 11: 87,734,177 E737G possibly damaging Het
Sardh C A 2: 27,239,461 W275L probably damaging Het
Sfi1 TCGC TC 11: 3,146,254 probably null Het
Sfi1 CCTCTC CCTCTCTC 11: 3,177,419 probably benign Het
Sipa1l2 G A 8: 125,449,973 H1185Y probably damaging Het
Skp2 G A 15: 9,116,925 Q298* probably null Het
Stk4 C T 2: 164,100,528 T360M probably benign Het
Stx12 T A 4: 132,871,649 I43L probably benign Het
Tmc1 T A 19: 20,816,184 I538F possibly damaging Het
Tollip T C 7: 141,884,555 M209V probably benign Het
Ttn A T 2: 76,812,968 S13202R probably damaging Het
Vmn2r60 T A 7: 42,136,787 V338D probably damaging Het
Vwa8 T C 14: 79,026,031 L767P probably damaging Het
Zfp202 C T 9: 40,211,496 T518I 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
R1406:Gm17535 UTSW 9 3035804 missense probably null 0.86
R1422: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 On2014-03-14