Incidental Mutation 'IGL01520:Rnf180'
ID 90489
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf180
Ensembl Gene ENSMUSG00000021720
Gene Name ring finger protein 180
Synonyms 3110001E11Rik, Rines
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # IGL01520
Quality Score
Status
Chromosome 13
Chromosomal Location 105267075-105431406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105386864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 148 (D148V)
Ref Sequence ENSEMBL: ENSMUSP00000153478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069686] [ENSMUST00000224011] [ENSMUST00000224662] [ENSMUST00000224749] [ENSMUST00000226044]
AlphaFold Q3U827
Predicted Effect possibly damaging
Transcript: ENSMUST00000069686
AA Change: D149V

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064624
Gene: ENSMUSG00000021720
AA Change: D149V

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 273 289 N/A INTRINSIC
low complexity region 378 395 N/A INTRINSIC
RING 432 473 1.65e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000224011
AA Change: D149V

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224662
AA Change: D149V

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000224749
AA Change: D148V

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably damaging
Transcript: ENSMUST00000226044
AA Change: D148V

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Knock-out mice show impaired stress responses, enhanced anxiety, and affiliative behavior. Norepinephrine and serotonin levels are decreased in the locus ceruleus, prefrontal cortex, and amygdala and MAO-A enzyme activity is enhanced in the locus ceruleus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T A 7: 78,734,318 (GRCm39) H58Q probably damaging Het
Atp6v1c2 A T 12: 17,347,754 (GRCm39) L149Q probably damaging Het
Bltp1 T A 3: 37,027,409 (GRCm39) Y2265* probably null Het
Cd40lg A G X: 56,265,148 (GRCm39) N132D probably benign Het
Cemip G T 7: 83,597,830 (GRCm39) T1060K probably benign Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Ces5a A T 8: 94,246,206 (GRCm39) S328T probably benign Het
Cfap70 A G 14: 20,470,755 (GRCm39) C497R probably benign Het
Cndp2 T C 18: 84,686,732 (GRCm39) K430R probably benign Het
Cplane1 C A 15: 8,251,395 (GRCm39) T1889K probably damaging Het
Crlf3 T C 11: 79,950,972 (GRCm39) D126G probably benign Het
Cxcr1 A T 1: 74,231,434 (GRCm39) L196Q probably damaging Het
E330013P04Rik A G 19: 60,150,329 (GRCm39) noncoding transcript Het
Erbb2 C T 11: 98,324,835 (GRCm39) H810Y probably benign Het
Fmn1 C A 2: 113,274,713 (GRCm39) probably benign Het
Fpr3 A G 17: 18,191,325 (GRCm39) T199A possibly damaging Het
Gcsh A G 8: 117,710,688 (GRCm39) probably benign Het
Gm10073 T A 8: 107,299,901 (GRCm39) I28F probably benign Het
Gucy1a2 C A 9: 3,759,561 (GRCm39) Q456K probably damaging Het
Hgs C A 11: 120,369,174 (GRCm39) P317T probably damaging Het
Inmt C A 6: 55,148,213 (GRCm39) V139F probably damaging Het
Kcnma1 C A 14: 23,551,211 (GRCm39) M460I possibly damaging Het
Map9 A T 3: 82,286,272 (GRCm39) N359I probably damaging Het
Mavs T C 2: 131,087,263 (GRCm39) S254P probably benign Het
Mcts1 T A X: 37,700,636 (GRCm39) probably benign Het
Mecp2 C A X: 73,079,447 (GRCm39) R344L possibly damaging Het
Or1e32 T G 11: 73,705,612 (GRCm39) T99P probably damaging Het
Or4z4 A G 19: 12,077,000 (GRCm39) M1T probably null Het
Or5b3 G T 19: 13,388,114 (GRCm39) M60I probably damaging Het
Or8g36 T C 9: 39,422,342 (GRCm39) I225V possibly damaging Het
Or8g54 T G 9: 39,706,674 (GRCm39) M1R probably null Het
Or9g4 T C 2: 85,504,701 (GRCm39) T265A probably benign Het
Rasgrp1 T C 2: 117,119,144 (GRCm39) I498V probably damaging Het
Rbbp6 T A 7: 122,584,898 (GRCm39) S185T possibly damaging Het
Rd3 A T 1: 191,717,283 (GRCm39) H251L possibly damaging Het
Rnf43 C A 11: 87,555,542 (GRCm39) A34E probably damaging Het
Rslcan18 A G 13: 67,250,172 (GRCm39) V21A probably benign Het
Septin9 T C 11: 117,243,469 (GRCm39) V128A probably damaging Het
Slc36a1 A G 11: 55,110,482 (GRCm39) H103R probably benign Het
Spata6l A T 19: 28,873,532 (GRCm39) probably null Het
Ssh2 A G 11: 77,340,732 (GRCm39) D628G probably damaging Het
Tlcd3a T C 11: 76,098,051 (GRCm39) probably null Het
Tmem119 A G 5: 113,933,546 (GRCm39) F85S probably damaging Het
Tpp1 A T 7: 105,396,936 (GRCm39) I398N probably benign Het
Ttc3 T C 16: 94,191,066 (GRCm39) Y203H probably benign Het
Vars1 G T 17: 35,232,849 (GRCm39) V898L probably benign Het
Vmn1r85 A C 7: 12,819,081 (GRCm39) V21G probably damaging Het
Zfp521 T C 18: 14,072,045 (GRCm39) H65R possibly damaging Het
Other mutations in Rnf180
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0270:Rnf180 UTSW 13 105,388,774 (GRCm39) missense probably benign 0.06
R1660:Rnf180 UTSW 13 105,407,499 (GRCm39) missense probably benign 0.04
R3881:Rnf180 UTSW 13 105,386,915 (GRCm39) missense possibly damaging 0.62
R6007:Rnf180 UTSW 13 105,317,957 (GRCm39) critical splice donor site probably null
R6740:Rnf180 UTSW 13 105,318,014 (GRCm39) missense possibly damaging 0.91
R6824:Rnf180 UTSW 13 105,318,023 (GRCm39) missense probably damaging 1.00
R7021:Rnf180 UTSW 13 105,407,429 (GRCm39) missense probably benign 0.03
R7655:Rnf180 UTSW 13 105,304,096 (GRCm39) missense probably damaging 1.00
R7656:Rnf180 UTSW 13 105,304,096 (GRCm39) missense probably damaging 1.00
R8352:Rnf180 UTSW 13 105,318,056 (GRCm39) missense probably damaging 1.00
R8452:Rnf180 UTSW 13 105,318,056 (GRCm39) missense probably damaging 1.00
R9288:Rnf180 UTSW 13 105,386,781 (GRCm39) small insertion probably benign
R9396:Rnf180 UTSW 13 105,318,027 (GRCm39) nonsense probably null
R9409:Rnf180 UTSW 13 105,386,781 (GRCm39) small insertion probably benign
R9410:Rnf180 UTSW 13 105,386,781 (GRCm39) small insertion probably benign
R9636:Rnf180 UTSW 13 105,386,819 (GRCm39) missense possibly damaging 0.52
Z1177:Rnf180 UTSW 13 105,318,121 (GRCm39) nonsense probably null
Posted On 2013-12-09