Incidental Mutation 'R8676:Rnf144b'
ID 661409
Institutional Source Beutler Lab
Gene Symbol Rnf144b
Ensembl Gene ENSMUSG00000038068
Gene Name ring finger protein 144B
Synonyms Ibrdc2, E130105P19Rik
MMRRC Submission 068531-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8676 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 47122656-47247991 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 47228976 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 103 (Y103N)
Ref Sequence ENSEMBL: ENSMUSP00000071017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068891] [ENSMUST00000110111]
AlphaFold Q8BKD6
Predicted Effect probably damaging
Transcript: ENSMUST00000068891
AA Change: Y103N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071017
Gene: ENSMUSG00000038068
AA Change: Y103N

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 damaging
Transcript: ENSMUST00000110111
AA Change: Y103N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105738
Gene: ENSMUSG00000038068
AA Change: Y103N

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 0.8673 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 93% (54/58)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 G A 4: 144,670,113 (GRCm38) R350C possibly damaging Het
Acsm3 T A 7: 119,775,169 (GRCm38) S281R probably damaging Het
Adipor2 G T 6: 119,363,486 (GRCm38) probably benign Het
Alk T C 17: 71,897,941 (GRCm38) S1079G probably damaging Het
Ankrd27 T C 7: 35,602,584 (GRCm38) probably null Het
Anxa6 C A 11: 55,001,282 (GRCm38) E283* probably null Het
Bnc2 T C 4: 84,276,313 (GRCm38) H858R possibly damaging Het
Btnl6 T C 17: 34,508,069 (GRCm38) S496G probably benign Het
Ccdc88a T C 11: 29,460,860 (GRCm38) S449P probably benign Het
Cdh23 A T 10: 60,410,910 (GRCm38) D916E probably damaging Het
Cfap43 A T 19: 47,748,017 (GRCm38) L1345H possibly damaging Het
Cyld A T 8: 88,729,510 (GRCm38) H396L probably benign Het
Cyp20a1 A G 1: 60,379,420 (GRCm38) T340A possibly damaging Het
Czib A G 4: 107,895,599 (GRCm38) N152D unknown Het
Dera A T 6: 137,830,204 (GRCm38) I217F probably damaging Het
Dnah11 A G 12: 118,190,804 (GRCm38) L247P probably damaging Het
Eftud2 G A 11: 102,868,621 (GRCm38) T152M probably damaging Het
Entrep1 T C 19: 23,988,494 (GRCm38) K214E probably damaging Het
Epb41l2 C T 10: 25,443,776 (GRCm38) T169M probably benign Het
Fam186a T C 15: 99,947,142 (GRCm38) D407G unknown Het
Gli3 T A 13: 15,715,034 (GRCm38) C578S probably damaging Het
Gm6408 A G 5: 146,482,427 (GRCm38) N84S probably benign Het
Heatr5a AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA 12: 51,887,919 (GRCm38) probably benign Het
Herc2 C A 7: 56,188,613 (GRCm38) T3296K probably damaging Het
Hnf4g A T 3: 3,643,073 (GRCm38) probably benign Het
Hyal4 C A 6: 24,755,827 (GRCm38) Q15K probably damaging Het
Itpr3 G A 17: 27,118,677 (GRCm38) probably benign Het
Kcna3 A G 3: 107,036,592 (GRCm38) E57G probably damaging Het
Kcnc3 C A 7: 44,591,596 (GRCm38) D237E probably benign Het
Map3k8 A G 18: 4,343,137 (GRCm38) V130A probably benign Het
Mpp7 A G 18: 7,440,430 (GRCm38) probably null Het
Mtres1 A G 10: 43,532,937 (GRCm38) L70S probably benign Het
Myh13 T A 11: 67,342,485 (GRCm38) L610Q probably damaging Het
Or13p5 C A 4: 118,735,038 (GRCm38) P170T probably damaging Het
Or5ap2 T A 2: 85,849,902 (GRCm38) M150K probably benign Het
Or8b52 T C 9: 38,665,768 (GRCm38) I25M probably benign Het
Pcdhb5 A T 18: 37,321,076 (GRCm38) T170S probably benign Het
Polr3b T A 10: 84,680,387 (GRCm38) H626Q probably benign Het
Prkg1 A T 19: 31,764,746 (GRCm38) L26Q probably damaging Het
Prob1 T C 18: 35,653,986 (GRCm38) N405S possibly damaging Het
Proz T G 8: 13,073,630 (GRCm38) S300R probably damaging Het
Psg19 A G 7: 18,794,065 (GRCm38) I251T probably benign Het
Rcbtb1 T C 14: 59,229,952 (GRCm38) I413T possibly damaging Het
Rspry1 G C 8: 94,632,119 (GRCm38) G194R probably benign Het
Scn2b A G 9: 45,125,619 (GRCm38) I142V probably damaging Het
Spata20 A T 11: 94,481,781 (GRCm38) L588H probably damaging Het
Stk32b T A 5: 37,457,159 (GRCm38) H335L probably benign Het
Taar4 A C 10: 23,960,903 (GRCm38) D137A possibly damaging Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,446,708 (GRCm38) probably benign Het
Tek A T 4: 94,849,837 (GRCm38) H708L probably benign Het
Tmem89 C T 9: 108,915,027 (GRCm38) L132F unknown Het
Ugt2b38 T C 5: 87,411,822 (GRCm38) I404V probably benign Het
Vmn1r16 C T 6: 57,322,829 (GRCm38) M269I probably benign Het
Vmn1r201 A G 13: 22,475,252 (GRCm38) K212R probably damaging Het
Vmn2r11 A C 5: 109,053,760 (GRCm38) F293V probably damaging Het
Zdhhc17 A T 10: 110,962,379 (GRCm38) probably benign Het
Zfp423 C A 8: 87,782,710 (GRCm38) M335I probably benign Het
Zfp74 T C 7: 29,934,654 (GRCm38) Y543C probably damaging Het
Zfp975 A T 7: 42,662,840 (GRCm38) S116R probably benign Het
Other mutations in Rnf144b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00814:Rnf144b APN 13 47,220,488 (GRCm38) splice site probably benign
IGL00987:Rnf144b APN 13 47,207,493 (GRCm38) missense possibly damaging 0.57
IGL02712:Rnf144b APN 13 47,239,779 (GRCm38) missense probably damaging 1.00
IGL03002:Rnf144b APN 13 47,242,883 (GRCm38) missense probably damaging 1.00
R0418:Rnf144b UTSW 13 47,244,490 (GRCm38) missense probably benign 0.00
R0464:Rnf144b UTSW 13 47,242,887 (GRCm38) nonsense probably null
R0652:Rnf144b UTSW 13 47,220,507 (GRCm38) missense probably damaging 1.00
R0932:Rnf144b UTSW 13 47,220,525 (GRCm38) missense probably null 0.44
R1472:Rnf144b UTSW 13 47,242,885 (GRCm38) missense probably damaging 1.00
R2341:Rnf144b UTSW 13 47,220,500 (GRCm38) missense probably benign 0.05
R4306:Rnf144b UTSW 13 47,242,942 (GRCm38) missense probably damaging 1.00
R4308:Rnf144b UTSW 13 47,242,942 (GRCm38) missense probably damaging 1.00
R4523:Rnf144b UTSW 13 47,207,537 (GRCm38) missense probably benign 0.08
R5591:Rnf144b UTSW 13 47,242,954 (GRCm38) critical splice donor site probably null
R7323:Rnf144b UTSW 13 47,239,782 (GRCm38) missense probably damaging 1.00
R7887:Rnf144b UTSW 13 47,239,811 (GRCm38) missense probably damaging 1.00
R9159:Rnf144b UTSW 13 47,242,872 (GRCm38) missense probably damaging 1.00
R9708:Rnf144b UTSW 13 47,244,436 (GRCm38) missense probably damaging 1.00
X0064:Rnf144b UTSW 13 47,237,464 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGAACTTCATCACTGATGGGG -3'
(R):5'- GTGCCAATTGCTGTTTCCAC -3'

Sequencing Primer
(F):5'- CATGTGTTGCTGCATGATCAAG -3'
(R):5'- AATTGCTGTTTCCACTCCTTGCAG -3'
Posted On 2021-03-08