Incidental Mutation 'IGL01520:Rslcan18'
ID90457
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rslcan18
Ensembl Gene ENSMUSG00000074824
Gene Nameregulator of sex-limitation candidate 18
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL01520
Quality Score
Status
Chromosome13
Chromosomal Location67096613-67116263 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 67102108 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 21 (V21A)
Ref Sequence ENSEMBL: ENSMUSP00000140296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091526] [ENSMUST00000109743] [ENSMUST00000186303]
Predicted Effect unknown
Transcript: ENSMUST00000091526
AA Change: V145A
SMART Domains Protein: ENSMUSP00000089111
Gene: ENSMUSG00000074824
AA Change: V145A

DomainStartEndE-ValueType
KRAB 96 156 5.31e-28 SMART
ZnF_C2H2 171 193 4.24e-4 SMART
ZnF_C2H2 199 221 1.56e-2 SMART
ZnF_C2H2 227 249 1.82e-3 SMART
ZnF_C2H2 255 277 1.82e-3 SMART
ZnF_C2H2 283 305 3.26e-5 SMART
ZnF_C2H2 311 333 1.82e-3 SMART
ZnF_C2H2 339 361 1.26e-2 SMART
ZnF_C2H2 367 389 2.12e-4 SMART
ZnF_C2H2 395 417 4.87e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109743
SMART Domains Protein: ENSMUSP00000105365
Gene: ENSMUSG00000058883

DomainStartEndE-ValueType
KRAB 17 77 3.75e-28 SMART
ZnF_C2H2 93 115 1.12e-3 SMART
ZnF_C2H2 121 143 5.14e-3 SMART
ZnF_C2H2 149 171 1.1e-2 SMART
ZnF_C2H2 177 199 6.78e-3 SMART
ZnF_C2H2 205 227 1.47e-3 SMART
ZnF_C2H2 233 255 7.78e-3 SMART
ZnF_C2H2 261 283 1.95e-3 SMART
ZnF_C2H2 289 311 5.21e-4 SMART
ZnF_C2H2 317 339 7.9e-4 SMART
ZnF_C2H2 345 367 8.34e-3 SMART
ZnF_C2H2 373 395 1.3e-4 SMART
ZnF_C2H2 401 423 4.87e-4 SMART
ZnF_C2H2 429 451 5.14e-3 SMART
ZnF_C2H2 457 479 1.2e-3 SMART
ZnF_C2H2 485 507 1.72e-4 SMART
ZnF_C2H2 513 535 1.6e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185954
Predicted Effect probably benign
Transcript: ENSMUST00000186303
AA Change: V21A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000140296
Gene: ENSMUSG00000100235
AA Change: V21A

DomainStartEndE-ValueType
KRAB 1 32 9.7e-3 SMART
ZnF_C2H2 47 69 1.8e-6 SMART
ZnF_C2H2 75 97 6.7e-5 SMART
ZnF_C2H2 103 125 7.6e-6 SMART
ZnF_C2H2 131 153 7.6e-6 SMART
ZnF_C2H2 159 181 1.4e-7 SMART
ZnF_C2H2 187 209 7.6e-6 SMART
ZnF_C2H2 215 237 5.5e-5 SMART
ZnF_C2H2 243 265 8.9e-7 SMART
ZnF_C2H2 271 293 2e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225558
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik C A 15: 8,221,911 T1889K probably damaging Het
4430402I18Rik A T 19: 28,896,132 probably null Het
4932438A13Rik T A 3: 36,973,260 Y2265* probably null Het
Acan T A 7: 79,084,570 H58Q probably damaging Het
Atp6v1c2 A T 12: 17,297,753 L149Q probably damaging Het
Cd40lg A G X: 57,219,788 N132D probably benign Het
Cemip G T 7: 83,948,622 T1060K probably benign Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Ces5a A T 8: 93,519,578 S328T probably benign Het
Cfap70 A G 14: 20,420,687 C497R probably benign Het
Cndp2 T C 18: 84,668,607 K430R probably benign Het
Crlf3 T C 11: 80,060,146 D126G probably benign Het
Cxcr1 A T 1: 74,192,275 L196Q probably damaging Het
E330013P04Rik A G 19: 60,161,897 noncoding transcript Het
Erbb2 C T 11: 98,434,009 H810Y probably benign Het
Fam57a T C 11: 76,207,225 probably null Het
Fmn1 C A 2: 113,444,368 probably benign Het
Fpr3 A G 17: 17,971,063 T199A possibly damaging Het
Gcsh A G 8: 116,983,949 probably benign Het
Gm10073 T A 8: 106,573,269 I28F probably benign Het
Gucy1a2 C A 9: 3,759,561 Q456K probably damaging Het
Hgs C A 11: 120,478,348 P317T probably damaging Het
Inmt C A 6: 55,171,228 V139F probably damaging Het
Kcnma1 C A 14: 23,501,143 M460I possibly damaging Het
Map9 A T 3: 82,378,965 N359I probably damaging Het
Mavs T C 2: 131,245,343 S254P probably benign Het
Mcts1 T A X: 38,611,759 probably benign Het
Mecp2 C A X: 74,035,841 R344L possibly damaging Het
Olfr1006 T C 2: 85,674,357 T265A probably benign Het
Olfr1427 A G 19: 12,099,636 M1T probably null Het
Olfr1469 G T 19: 13,410,750 M60I probably damaging Het
Olfr392 T G 11: 73,814,786 T99P probably damaging Het
Olfr957 T C 9: 39,511,046 I225V possibly damaging Het
Olfr969 T G 9: 39,795,378 M1R probably null Het
Rasgrp1 T C 2: 117,288,663 I498V probably damaging Het
Rbbp6 T A 7: 122,985,675 S185T possibly damaging Het
Rd3 A T 1: 191,985,322 H251L possibly damaging Het
Rnf180 T A 13: 105,250,356 D148V probably damaging Het
Rnf43 C A 11: 87,664,716 A34E probably damaging Het
Sept9 T C 11: 117,352,643 V128A probably damaging Het
Slc36a1 A G 11: 55,219,656 H103R probably benign Het
Ssh2 A G 11: 77,449,906 D628G probably damaging Het
Tmem119 A G 5: 113,795,485 F85S probably damaging Het
Tpp1 A T 7: 105,747,729 I398N probably benign Het
Ttc3 T C 16: 94,390,207 Y203H probably benign Het
Vars G T 17: 35,013,873 V898L probably benign Het
Vmn1r85 A C 7: 13,085,154 V21G probably damaging Het
Zfp521 T C 18: 13,938,988 H65R possibly damaging Het
Other mutations in Rslcan18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01760:Rslcan18 APN 13 67113951 missense probably benign 0.04
R0003:Rslcan18 UTSW 13 67098469 missense probably benign 0.01
R0333:Rslcan18 UTSW 13 67098622 missense probably damaging 0.99
R0505:Rslcan18 UTSW 13 67102119 missense probably benign 0.31
R0525:Rslcan18 UTSW 13 67112258 missense probably benign 0.03
R0898:Rslcan18 UTSW 13 67098816 missense probably benign 0.02
R1449:Rslcan18 UTSW 13 67102100 missense possibly damaging 0.65
R1511:Rslcan18 UTSW 13 67098952 missense possibly damaging 0.94
R1575:Rslcan18 UTSW 13 67108057 intron probably benign
R1973:Rslcan18 UTSW 13 67108023 intron probably benign
R3109:Rslcan18 UTSW 13 67098607 missense possibly damaging 0.53
R4707:Rslcan18 UTSW 13 67098526 missense probably damaging 1.00
R5277:Rslcan18 UTSW 13 67098434 missense probably benign 0.03
Posted On2013-12-09