Incidental Mutation 'IGL00987:Rnf144b'
ID28910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf144b
Ensembl Gene ENSMUSG00000038068
Gene Namering finger protein 144B
SynonymsIbrdc2, E130105P19Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00987
Quality Score
Status
Chromosome13
Chromosomal Location47122656-47247991 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 47207493 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 36 (E36D)
Ref Sequence ENSEMBL: ENSMUSP00000105738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068891] [ENSMUST00000110111]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068891
AA Change: E36D

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000071017
Gene: ENSMUSG00000038068
AA Change: E36D

DomainStartEndE-ValueType
RING 30 78 2.24e0 SMART
IBR 101 166 2.16e-16 SMART
IBR 172 238 1.3e0 SMART
RING 191 283 6.17e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110111
AA Change: E36D

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105738
Gene: ENSMUSG00000038068
AA Change: E36D

DomainStartEndE-ValueType
RING 30 78 2.24e0 SMART
IBR 101 166 2.16e-16 SMART
IBR 172 238 1.3e0 SMART
RING 191 283 6.17e-2 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot9 T C X: 155,295,181 I241T probably benign Het
Atp5g3 T A 2: 73,909,926 R19* probably null Het
Celf4 T C 18: 25,486,950 D420G probably damaging Het
Cideb C A 14: 55,754,560 R179L possibly damaging Het
Cmtr1 G A 17: 29,697,169 R591H probably benign Het
Dync1li2 A T 8: 104,442,498 S34T possibly damaging Het
Eri2 A G 7: 119,791,166 Y80H probably damaging Het
Eya2 A G 2: 165,754,481 E304G probably damaging Het
Fam135a A C 1: 24,055,898 L130V probably damaging Het
Fancb A T X: 164,991,598 K410N probably damaging Het
Gabpb2 A C 3: 95,200,191 V191G probably damaging Het
Gfm1 A G 3: 67,438,560 H197R possibly damaging Het
Gm11595 A G 11: 99,772,539 V105A unknown Het
Hectd3 T A 4: 116,999,643 D462E probably damaging Het
Herc1 G T 9: 66,408,052 V1139L probably benign Het
Itgal T C 7: 127,302,011 F190L probably damaging Het
Krt87 G A 15: 101,438,446 H109Y probably benign Het
Lmf2 T C 15: 89,354,568 Y115C probably benign Het
Papolg T A 11: 23,876,377 Y259F possibly damaging Het
Parn T C 16: 13,667,603 I10V probably benign Het
Pdcd11 T A 19: 47,114,550 probably benign Het
Phldb2 T A 16: 45,763,102 Q1003L possibly damaging Het
Pigg T A 5: 108,342,078 F850I probably damaging Het
Pkp4 T C 2: 59,308,357 L317P probably damaging Het
Polr2a T C 11: 69,743,794 probably benign Het
Prdm16 G A 4: 154,341,969 T453M possibly damaging Het
Ryr2 G A 13: 11,735,502 T1961I probably damaging Het
Sash1 T A 10: 8,751,413 K305I probably damaging Het
Tbc1d7 A T 13: 43,159,321 I32N probably damaging Het
Thop1 T C 10: 81,081,695 F623L probably damaging Het
Thsd7b G A 1: 129,613,279 G297R probably damaging Het
Tln1 C A 4: 43,551,297 probably benign Het
Vmn1r183 A G 7: 24,055,224 N151D probably damaging Het
Other mutations in Rnf144b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00814:Rnf144b APN 13 47220488 splice site probably benign
IGL02712:Rnf144b APN 13 47239779 missense probably damaging 1.00
IGL03002:Rnf144b APN 13 47242883 missense probably damaging 1.00
R0418:Rnf144b UTSW 13 47244490 missense probably benign 0.00
R0464:Rnf144b UTSW 13 47242887 nonsense probably null
R0652:Rnf144b UTSW 13 47220507 missense probably damaging 1.00
R0932:Rnf144b UTSW 13 47220525 missense probably null 0.44
R1472:Rnf144b UTSW 13 47242885 missense probably damaging 1.00
R2341:Rnf144b UTSW 13 47220500 missense probably benign 0.05
R4306:Rnf144b UTSW 13 47242942 missense probably damaging 1.00
R4308:Rnf144b UTSW 13 47242942 missense probably damaging 1.00
R4523:Rnf144b UTSW 13 47207537 missense probably benign 0.08
R5591:Rnf144b UTSW 13 47242954 critical splice donor site probably null
R7323:Rnf144b UTSW 13 47239782 missense probably damaging 1.00
X0064:Rnf144b UTSW 13 47237464 missense probably benign 0.00
Posted On2013-04-17