Incidental Mutation 'R4523:Rnf144b'
ID 334324
Institutional Source Beutler Lab
Gene Symbol Rnf144b
Ensembl Gene ENSMUSG00000038068
Gene Name ring finger protein 144B
Synonyms Ibrdc2, E130105P19Rik
MMRRC Submission 042004-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4523 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 47276196-47401470 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47361013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 51 (I51T)
Ref Sequence ENSEMBL: ENSMUSP00000105738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068891] [ENSMUST00000110111]
AlphaFold Q8BKD6
Predicted Effect probably benign
Transcript: ENSMUST00000068891
AA Change: I51T

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000071017
Gene: ENSMUSG00000038068
AA Change: I51T

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 probably benign
Transcript: ENSMUST00000110111
AA Change: I51T

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000105738
Gene: ENSMUSG00000038068
AA Change: I51T

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
Meta Mutation Damage Score 0.0875 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 G T 5: 67,824,943 (GRCm39) T796K probably benign Het
Atr T C 9: 95,744,916 (GRCm39) S78P probably damaging Het
Calb2 C T 8: 110,875,141 (GRCm39) probably null Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Cdca7 A G 2: 72,310,042 (GRCm39) S77G probably damaging Het
Cfap47 A T X: 78,553,601 (GRCm39) N291K possibly damaging Het
Cnot2 C T 10: 116,417,379 (GRCm39) probably benign Het
Cstf2t T A 19: 31,060,482 (GRCm39) V6D possibly damaging Het
Cybc1 A G 11: 121,114,934 (GRCm39) probably benign Het
Dido1 T C 2: 180,314,085 (GRCm39) I852V probably damaging Het
Dmgdh C T 13: 93,825,138 (GRCm39) Q154* probably null Het
Dnah12 T C 14: 26,491,979 (GRCm39) F1138S probably damaging Het
Dnah12 G A 14: 26,598,915 (GRCm39) A998T possibly damaging Het
Dusp5 T G 19: 53,526,032 (GRCm39) Y225D probably damaging Het
Fam193a G A 5: 34,600,715 (GRCm39) D601N probably benign Het
Fbxo41 A G 6: 85,461,024 (GRCm39) I228T probably damaging Het
Fmo2 T C 1: 162,715,277 (GRCm39) K115R probably benign Het
Gak G T 5: 108,724,432 (GRCm39) Q1093K probably benign Het
Gm5277 G T 3: 78,799,493 (GRCm39) noncoding transcript Het
Hgsnat A G 8: 26,458,389 (GRCm39) probably null Het
Hycc1 T C 5: 24,170,120 (GRCm39) T410A probably benign Het
Irag1 T C 7: 110,523,048 (GRCm39) M338V probably benign Het
Map3k3 G A 11: 106,039,694 (GRCm39) R278H probably damaging Het
Muc4 T C 16: 32,555,154 (GRCm39) probably benign Het
Nectin3 C A 16: 46,268,953 (GRCm39) R483L probably benign Het
Nop2 G T 6: 125,110,515 (GRCm39) R47L probably damaging Het
Ntng1 A G 3: 109,842,312 (GRCm39) S154P probably damaging Het
Olfml2b T C 1: 170,496,791 (GRCm39) I474T probably benign Het
Optc G T 1: 133,831,492 (GRCm39) T138K possibly damaging Het
Or7g25 T C 9: 19,160,525 (GRCm39) T57A probably damaging Het
Or8k22 C G 2: 86,163,644 (GRCm39) D19H probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pard3 C T 8: 128,125,108 (GRCm39) P421S probably benign Het
Pcdhb22 G T 18: 37,653,474 (GRCm39) E647D probably benign Het
Pclo A G 5: 14,730,006 (GRCm39) probably benign Het
Prkce G T 17: 86,798,178 (GRCm39) probably null Het
Prr12 T C 7: 44,697,947 (GRCm39) D656G unknown Het
Ptprk A T 10: 28,342,048 (GRCm39) D485V probably damaging Het
Ptprn2 T C 12: 116,839,620 (GRCm39) L381P probably damaging Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Sh3glb2 A T 2: 30,240,711 (GRCm39) V118E probably damaging Het
Sipa1l2 C T 8: 126,219,163 (GRCm39) G58D probably damaging Het
Slc5a4a C T 10: 75,984,196 (GRCm39) A46V probably damaging Het
Spmip8 T A 8: 96,039,638 (GRCm39) Y18* probably null Het
Tgm7 C A 2: 120,929,069 (GRCm39) probably null Het
Tjap1 A G 17: 46,569,718 (GRCm39) V424A probably benign Het
Trpm6 A T 19: 18,773,864 (GRCm39) I414F probably damaging Het
Tsr3 C G 17: 25,460,723 (GRCm39) D196E probably benign Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn2r72 T A 7: 85,401,134 (GRCm39) H95L probably benign Het
Vmn2r97 T A 17: 19,149,333 (GRCm39) N240K probably benign Het
Xdh C A 17: 74,205,339 (GRCm39) G1042V probably damaging Het
Zcchc4 A G 5: 52,941,409 (GRCm39) D68G probably damaging Het
Other mutations in Rnf144b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00814:Rnf144b APN 13 47,373,964 (GRCm39) splice site probably benign
IGL00987:Rnf144b APN 13 47,360,969 (GRCm39) missense possibly damaging 0.57
IGL02712:Rnf144b APN 13 47,393,255 (GRCm39) missense probably damaging 1.00
IGL03002:Rnf144b APN 13 47,396,359 (GRCm39) missense probably damaging 1.00
R0418:Rnf144b UTSW 13 47,397,966 (GRCm39) missense probably benign 0.00
R0464:Rnf144b UTSW 13 47,396,363 (GRCm39) nonsense probably null
R0652:Rnf144b UTSW 13 47,373,983 (GRCm39) missense probably damaging 1.00
R0932:Rnf144b UTSW 13 47,374,001 (GRCm39) missense probably null 0.44
R1472:Rnf144b UTSW 13 47,396,361 (GRCm39) missense probably damaging 1.00
R2341:Rnf144b UTSW 13 47,373,976 (GRCm39) missense probably benign 0.05
R4306:Rnf144b UTSW 13 47,396,418 (GRCm39) missense probably damaging 1.00
R4308:Rnf144b UTSW 13 47,396,418 (GRCm39) missense probably damaging 1.00
R5591:Rnf144b UTSW 13 47,396,430 (GRCm39) critical splice donor site probably null
R7323:Rnf144b UTSW 13 47,393,258 (GRCm39) missense probably damaging 1.00
R7887:Rnf144b UTSW 13 47,393,287 (GRCm39) missense probably damaging 1.00
R8676:Rnf144b UTSW 13 47,382,452 (GRCm39) missense probably damaging 1.00
R9159:Rnf144b UTSW 13 47,396,348 (GRCm39) missense probably damaging 1.00
R9708:Rnf144b UTSW 13 47,397,912 (GRCm39) missense probably damaging 1.00
X0064:Rnf144b UTSW 13 47,390,940 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CATCAGCCGTATTGGTGGTG -3'
(R):5'- GTTTAAGGGTCAGGGTACAGCAC -3'

Sequencing Primer
(F):5'- ATTGGTGGTGATGACATTCCTTAC -3'
(R):5'- TCAGGGTACAGCACTTCCCTAG -3'
Posted On 2015-08-18