Incidental Mutation 'R0614:4930453N24Rik'
ID 54977
Institutional Source Beutler Lab
Gene Symbol 4930453N24Rik
Ensembl Gene ENSMUSG00000059920
Gene Name RIKEN cDNA 4930453N24 gene
Synonyms din
MMRRC Submission 038803-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0614 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 64583267-64592735 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64586977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 249 (Q249L)
Ref Sequence ENSEMBL: ENSMUSP00000076255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076991]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000076991
AA Change: Q249L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076255
Gene: ENSMUSG00000059920
AA Change: Q249L

DomainStartEndE-ValueType
Pfam:DUF4518 4 274 1.8e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162732
Meta Mutation Damage Score 0.7381 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 97% (61/63)
MGI Phenotype PHENOTYPE: Homozygous mutants show arrested eruption of incisors causing dentin formation to continue and occlude the pulp chamber. Mice also display small size, reduced ear pinna, and have abnormal coat color and patterning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,340,782 (GRCm39) T137I probably benign Het
3110082I17Rik C T 5: 139,349,786 (GRCm39) V88I possibly damaging Het
Ap1g2 C T 14: 55,337,230 (GRCm39) V702I probably benign Het
Armcx5 G A X: 134,647,564 (GRCm39) E547K probably damaging Het
Asah2 C A 19: 31,994,128 (GRCm39) V406L probably damaging Het
Atp8b1 T C 18: 64,666,658 (GRCm39) probably benign Het
Axl C A 7: 25,473,588 (GRCm39) R346L probably benign Het
Baz1a G A 12: 54,988,304 (GRCm39) R282* probably null Het
Card14 A G 11: 119,213,653 (GRCm39) N200S probably benign Het
Cdt1 A G 8: 123,294,876 (GRCm39) T28A probably benign Het
Cep250 C T 2: 155,812,017 (GRCm39) Q438* probably null Het
Dapk1 C A 13: 60,865,946 (GRCm39) P181Q probably damaging Het
Dnah17 C T 11: 117,961,394 (GRCm39) probably benign Het
Dph7 T C 2: 24,858,968 (GRCm39) probably null Het
Edc4 A T 8: 106,616,028 (GRCm39) D801V possibly damaging Het
Eif4g2 A G 7: 110,676,430 (GRCm39) probably null Het
Eml2 T C 7: 18,936,516 (GRCm39) L531P probably damaging Het
Ephb2 T C 4: 136,400,676 (GRCm39) Y533C probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fsip2 A G 2: 82,807,877 (GRCm39) K1399E probably benign Het
Hcls1 A G 16: 36,782,987 (GRCm39) D446G probably damaging Het
Hif1a T A 12: 73,992,405 (GRCm39) N787K probably damaging Het
Ints14 T C 9: 64,871,715 (GRCm39) S18P probably benign Het
Kalrn A T 16: 33,814,040 (GRCm39) probably benign Het
Llgl2 T A 11: 115,741,093 (GRCm39) D502E probably damaging Het
Lrwd1 A G 5: 136,152,354 (GRCm39) V570A probably damaging Het
Mga C G 2: 119,794,947 (GRCm39) P2877R probably damaging Het
Mvd T C 8: 123,163,292 (GRCm39) I313V probably benign Het
Myo15b C A 11: 115,773,739 (GRCm39) P270T probably damaging Het
Naip1 C A 13: 100,580,708 (GRCm39) V180L probably benign Het
Ofd1 T C X: 165,218,536 (GRCm39) probably benign Het
Or1j19 T A 2: 36,676,705 (GRCm39) L56H probably damaging Het
Or4c125 T A 2: 89,170,329 (GRCm39) I106F probably damaging Het
Or4d11 A T 19: 12,013,929 (GRCm39) M59K possibly damaging Het
Otogl G A 10: 107,634,216 (GRCm39) P1420S probably benign Het
Pakap C A 4: 57,856,720 (GRCm39) A926E probably benign Het
Pcnt C T 10: 76,256,150 (GRCm39) V697M probably damaging Het
Plekha7 A T 7: 115,753,880 (GRCm39) Y702* probably null Het
Plxnb3 A G X: 72,807,964 (GRCm39) probably benign Het
Ptgis A G 2: 167,048,802 (GRCm39) F405L probably damaging Het
Ptprk C T 10: 27,951,132 (GRCm39) P19L probably damaging Het
Ptprt A G 2: 161,654,040 (GRCm39) V530A possibly damaging Het
Rasgrp4 A T 7: 28,845,276 (GRCm39) Y299F probably damaging Het
Slc39a11 T A 11: 113,414,452 (GRCm39) probably null Het
Slc6a15 T A 10: 103,240,213 (GRCm39) L312* probably null Het
Slf1 T A 13: 77,197,233 (GRCm39) M794L probably benign Het
Sntg2 G A 12: 30,307,977 (GRCm39) T236I possibly damaging Het
Stau1 T C 2: 166,792,726 (GRCm39) Y413C probably damaging Het
Syne2 T G 12: 75,959,127 (GRCm39) probably null Het
Tas2r104 A T 6: 131,662,165 (GRCm39) N181K probably damaging Het
Tmem81 G A 1: 132,435,469 (GRCm39) V92I probably benign Het
Trap1 A G 16: 3,878,615 (GRCm39) probably benign Het
Trip12 T C 1: 84,735,482 (GRCm39) E905G probably damaging Het
Usp2 C T 9: 44,003,789 (GRCm39) R494* probably null Het
Vps13a G T 19: 16,630,058 (GRCm39) R2692S probably damaging Het
Zfhx3 T C 8: 109,675,171 (GRCm39) S2074P probably benign Het
Zfhx3 C G 8: 109,675,599 (GRCm39) Y2216* probably null Het
Zfp423 A G 8: 88,508,742 (GRCm39) F409S probably damaging Het
Zfp472 G A 17: 33,196,908 (GRCm39) E328K possibly damaging Het
Zfp619 T A 7: 39,187,099 (GRCm39) M1043K possibly damaging Het
Zfp940 T C 7: 29,545,671 (GRCm39) I79V probably benign Het
Other mutations in 4930453N24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03358:4930453N24Rik APN 16 64,586,909 (GRCm39) missense possibly damaging 0.80
grava UTSW 16 64,589,377 (GRCm39) nonsense probably null
R1729:4930453N24Rik UTSW 16 64,589,385 (GRCm39) missense probably damaging 0.96
R1784:4930453N24Rik UTSW 16 64,589,385 (GRCm39) missense probably damaging 0.96
R4058:4930453N24Rik UTSW 16 64,586,821 (GRCm39) missense probably benign 0.43
R4059:4930453N24Rik UTSW 16 64,586,821 (GRCm39) missense probably benign 0.43
R7099:4930453N24Rik UTSW 16 64,591,151 (GRCm39) missense probably benign 0.36
R8298:4930453N24Rik UTSW 16 64,586,695 (GRCm39) missense probably benign
R9007:4930453N24Rik UTSW 16 64,589,377 (GRCm39) nonsense probably null
R9344:4930453N24Rik UTSW 16 64,591,135 (GRCm39) missense possibly damaging 0.91
R9555:4930453N24Rik UTSW 16 64,586,947 (GRCm39) missense probably benign 0.06
R9685:4930453N24Rik UTSW 16 64,586,823 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AACCTGGTCTCCAGTGCCACTATC -3'
(R):5'- AATCGTGAGCCTTCGCTTACTGTC -3'

Sequencing Primer
(F):5'- CTTCAGGGCTATTACACAAGGTG -3'
(R):5'- CGCTTACTGTCATTAGTTAAAGAGG -3'
Posted On 2013-07-11