Incidental Mutation 'IGL02275:1700037C18Rik'
ID287316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700037C18Rik
Ensembl Gene ENSMUSG00000005983
Gene NameRIKEN cDNA 1700037C18 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL02275
Quality Score
Status
Chromosome16
Chromosomal Location3895179-3908689 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 3906282 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 130 (D130V)
Ref Sequence ENSEMBL: ENSMUSP00000135766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006138] [ENSMUST00000006139] [ENSMUST00000040881] [ENSMUST00000115859] [ENSMUST00000115860] [ENSMUST00000123235] [ENSMUST00000124849] [ENSMUST00000139294] [ENSMUST00000143537] [ENSMUST00000145150] [ENSMUST00000150655] [ENSMUST00000175809] [ENSMUST00000176224] [ENSMUST00000176233] [ENSMUST00000176625] [ENSMUST00000177221] [ENSMUST00000177323] [ENSMUST00000186375]
Predicted Effect probably benign
Transcript: ENSMUST00000006138
SMART Domains Protein: ENSMUSP00000006138
Gene: ENSMUSG00000005982

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 50 157 4.2e-11 PFAM
Pfam:Acetyltransf_1 57 156 4.2e-15 PFAM
Pfam:FR47 77 164 8.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000006139
SMART Domains Protein: ENSMUSP00000006139
Gene: ENSMUSG00000005983

DomainStartEndE-ValueType
Pfam:DUF4644 16 139 7.3e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040881
SMART Domains Protein: ENSMUSP00000043397
Gene: ENSMUSG00000014232

DomainStartEndE-ValueType
Pfam:Cluap1 14 283 2.5e-121 PFAM
low complexity region 297 307 N/A INTRINSIC
low complexity region 310 330 N/A INTRINSIC
low complexity region 360 388 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115859
AA Change: D126V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111525
Gene: ENSMUSG00000005983
AA Change: D126V

DomainStartEndE-ValueType
Pfam:DUF4644 2 162 4.7e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115860
SMART Domains Protein: ENSMUSP00000111526
Gene: ENSMUSG00000005982

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 50 157 4.2e-11 PFAM
Pfam:Acetyltransf_1 57 156 4.2e-15 PFAM
Pfam:FR47 77 164 8.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123235
SMART Domains Protein: ENSMUSP00000135233
Gene: ENSMUSG00000005983

DomainStartEndE-ValueType
Pfam:DUF4644 7 67 1.5e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124849
SMART Domains Protein: ENSMUSP00000119490
Gene: ENSMUSG00000014232

DomainStartEndE-ValueType
Pfam:Cluap1 3 206 8.7e-93 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137745
Predicted Effect probably benign
Transcript: ENSMUST00000139294
Predicted Effect probably benign
Transcript: ENSMUST00000143537
SMART Domains Protein: ENSMUSP00000135188
Gene: ENSMUSG00000005982

DomainStartEndE-ValueType
SCOP:d1cjwa_ 10 113 9e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145150
SMART Domains Protein: ENSMUSP00000116855
Gene: ENSMUSG00000014232

DomainStartEndE-ValueType
Pfam:Cluap1 3 188 9.9e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146935
Predicted Effect probably benign
Transcript: ENSMUST00000150655
SMART Domains Protein: ENSMUSP00000135206
Gene: ENSMUSG00000005982

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 50 157 4.2e-11 PFAM
Pfam:Acetyltransf_1 57 156 4.2e-15 PFAM
Pfam:FR47 77 164 8.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175809
SMART Domains Protein: ENSMUSP00000135810
Gene: ENSMUSG00000005982

DomainStartEndE-ValueType
SCOP:d1qsma_ 12 67 4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176224
SMART Domains Protein: ENSMUSP00000135152
Gene: ENSMUSG00000005982

DomainStartEndE-ValueType
SCOP:d1cjwa_ 10 112 2e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176233
SMART Domains Protein: ENSMUSP00000135826
Gene: ENSMUSG00000093575

DomainStartEndE-ValueType
Pfam:Cluap1 119 282 2.8e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176625
SMART Domains Protein: ENSMUSP00000134768
Gene: ENSMUSG00000005982

DomainStartEndE-ValueType
Pfam:Acetyltransf_1 4 91 1.1e-13 PFAM
Pfam:Acetyltransf_7 7 92 1e-10 PFAM
Pfam:FR47 12 99 1.8e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177221
AA Change: D137V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134800
Gene: ENSMUSG00000005983
AA Change: D137V

DomainStartEndE-ValueType
Pfam:DUF4644 13 144 7.2e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177323
AA Change: D130V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135766
Gene: ENSMUSG00000005983
AA Change: D130V

DomainStartEndE-ValueType
Pfam:DUF4644 6 166 1.5e-93 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177519
Predicted Effect probably benign
Transcript: ENSMUST00000186375
SMART Domains Protein: ENSMUSP00000140031
Gene: ENSMUSG00000005982

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 50 157 4.2e-11 PFAM
Pfam:Acetyltransf_1 57 156 4.2e-15 PFAM
Pfam:FR47 77 164 8.2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195807
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T C 14: 35,811,923 T9A probably benign Het
Anapc1 C A 2: 128,659,852 A757S probably benign Het
Bpifa6 A T 2: 153,992,272 D328V probably benign Het
Casc1 T C 6: 145,177,364 Y592C probably damaging Het
Cdh19 T A 1: 110,925,886 K275I probably benign Het
Col18a1 A G 10: 77,059,383 I1148T possibly damaging Het
Commd1 A T 11: 22,900,017 V222D probably damaging Het
Crim1 T A 17: 78,369,998 M876K possibly damaging Het
Dennd1b C A 1: 139,081,254 H232N probably damaging Het
Dhx57 T C 17: 80,274,839 T393A probably benign Het
Gabrb2 G T 11: 42,591,894 R193L probably benign Het
Gm5828 T A 1: 16,769,118 noncoding transcript Het
Gm6483 C T 8: 19,691,613 P55S probably damaging Het
Hsp90ab1 T C 17: 45,568,438 Y619C possibly damaging Het
Kctd19 A G 8: 105,396,374 I136T probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr1361 A C 13: 21,659,000 F108V probably benign Het
Sel1l T C 12: 91,815,015 Y532C probably damaging Het
Sirpb1a A G 3: 15,410,409 probably null Het
Ush2a C T 1: 188,263,269 T79M possibly damaging Het
Usp24 T C 4: 106,387,493 V1215A probably damaging Het
Vdac3-ps1 T C 13: 18,030,794 noncoding transcript Het
Vmn2r75 T C 7: 86,165,140 T382A probably benign Het
Vps53 T C 11: 76,047,123 Y728C probably benign Het
Other mutations in 1700037C18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0485:1700037C18Rik UTSW 16 3907647 missense probably damaging 0.99
R1579:1700037C18Rik UTSW 16 3906175 missense probably benign 0.39
R1643:1700037C18Rik UTSW 16 3907078 nonsense probably null
R2181:1700037C18Rik UTSW 16 3907086 missense possibly damaging 0.53
Posted On2015-04-16