Incidental Mutation 'R4417:A630001G21Rik'
ID 326863
Institutional Source Beutler Lab
Gene Symbol A630001G21Rik
Ensembl Gene ENSMUSG00000052760
Gene Name RIKEN cDNA A630001G21 gene
Synonyms
MMRRC Submission 041138-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R4417 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 85644804-85664377 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85654184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 51 (Y51F)
Ref Sequence ENSEMBL: ENSMUSP00000124137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064788] [ENSMUST00000159122] [ENSMUST00000162038]
AlphaFold Q3UTB2
Predicted Effect probably damaging
Transcript: ENSMUST00000064788
AA Change: Y51F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070374
Gene: ENSMUSG00000052760
AA Change: Y51F

DomainStartEndE-ValueType
Pfam:Sp100 11 109 3.1e-40 PFAM
low complexity region 168 187 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000159122
AA Change: Y51F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124137
Gene: ENSMUSG00000052760
AA Change: Y51F

DomainStartEndE-ValueType
Pfam:Sp100 9 112 8.3e-45 PFAM
low complexity region 168 187 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161453
Predicted Effect probably damaging
Transcript: ENSMUST00000162038
AA Change: Y51F

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125643
Gene: ENSMUSG00000052760
AA Change: Y51F

DomainStartEndE-ValueType
Pfam:Sp100 11 109 4e-41 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C A 16: 56,474,398 (GRCm39) T631K probably damaging Het
BC004004 G A 17: 29,501,249 (GRCm39) probably benign Het
Cabp1 G A 5: 115,324,096 (GRCm39) S7L possibly damaging Het
Cdc23 ACC AC 18: 34,770,371 (GRCm39) probably null Het
Clhc1 T C 11: 29,521,826 (GRCm39) I453T possibly damaging Het
Col28a1 T A 6: 8,175,666 (GRCm39) I61F possibly damaging Het
Col2a1 T C 15: 97,896,466 (GRCm39) E61G unknown Het
Col6a4 C T 9: 105,949,215 (GRCm39) V807I probably damaging Het
Crhbp T C 13: 95,580,385 (GRCm39) S65G probably benign Het
Dnah9 T A 11: 65,872,040 (GRCm39) Q2730L possibly damaging Het
Epx T A 11: 87,760,256 (GRCm39) R453* probably null Het
Fez1 T C 9: 36,781,768 (GRCm39) probably benign Het
G530012D18Rik G C 1: 85,504,923 (GRCm39) probably benign Het
Glp2r T C 11: 67,555,342 (GRCm39) probably benign Het
Gpm6a T A 8: 55,503,223 (GRCm39) N157K probably damaging Het
Kcnj2 T C 11: 110,963,015 (GRCm39) S136P probably damaging Het
Lad1 A G 1: 135,756,484 (GRCm39) D364G probably benign Het
Lcp2 G T 11: 34,000,917 (GRCm39) E33D probably benign Het
Lrrc32 G T 7: 98,148,144 (GRCm39) R308L probably benign Het
Matr3 C A 18: 35,705,171 (GRCm39) A32D probably damaging Het
Mfsd12 A G 10: 81,200,537 (GRCm39) probably benign Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Notch2 A G 3: 98,038,586 (GRCm39) D1243G possibly damaging Het
Odf2 T A 2: 29,805,333 (GRCm39) probably benign Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Or4c125 T C 2: 89,170,331 (GRCm39) E105G probably benign Het
Pasd1 G A X: 70,983,225 (GRCm39) C399Y possibly damaging Het
Pitpnm2 G T 5: 124,261,632 (GRCm39) R977S probably damaging Het
Prdm13 T C 4: 21,678,756 (GRCm39) E578G probably benign Het
Pum3 A G 19: 27,400,116 (GRCm39) I183T probably damaging Het
Rdh14 G A 12: 10,441,231 (GRCm39) probably null Het
Slc35b2 G A 17: 45,877,355 (GRCm39) V161M probably benign Het
Slit1 A G 19: 41,602,908 (GRCm39) C968R probably damaging Het
Spag9 A T 11: 93,951,172 (GRCm39) probably benign Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Stradb T C 1: 59,033,531 (GRCm39) V398A probably benign Het
Tlr4 A T 4: 66,757,540 (GRCm39) N111I probably damaging Het
Tnip2 G A 5: 34,660,925 (GRCm39) R176* probably null Het
Tomm7 A G 5: 24,048,977 (GRCm39) I32T probably benign Het
Trank1 T C 9: 111,195,036 (GRCm39) I1020T probably benign Het
Ugt1a10 T G 1: 87,983,717 (GRCm39) S172A probably benign Het
Vmn2r115 T A 17: 23,564,854 (GRCm39) M247K probably benign Het
Zfp341 T C 2: 154,470,907 (GRCm39) L308P possibly damaging Het
Zmym6 T C 4: 126,986,781 (GRCm39) S154P probably damaging Het
Other mutations in A630001G21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02572:A630001G21Rik APN 1 85,652,892 (GRCm39) missense probably damaging 0.96
FR4737:A630001G21Rik UTSW 1 85,650,856 (GRCm39) utr 3 prime probably benign
PIT4469001:A630001G21Rik UTSW 1 85,652,920 (GRCm39) missense probably benign 0.00
R0423:A630001G21Rik UTSW 1 85,654,187 (GRCm39) missense probably benign 0.03
R3029:A630001G21Rik UTSW 1 85,645,966 (GRCm39) missense probably benign 0.33
R4876:A630001G21Rik UTSW 1 85,646,761 (GRCm39) missense probably damaging 0.98
R5592:A630001G21Rik UTSW 1 85,654,332 (GRCm39) missense probably damaging 0.96
R5719:A630001G21Rik UTSW 1 85,651,106 (GRCm39) missense probably benign 0.01
R5780:A630001G21Rik UTSW 1 85,646,039 (GRCm39) missense probably benign 0.02
R9397:A630001G21Rik UTSW 1 85,653,002 (GRCm39) nonsense probably null
X0020:A630001G21Rik UTSW 1 85,652,980 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAACTGGAGTGAGCAGGTTGAC -3'
(R):5'- TGTGCCACGAAATCCCCATG -3'

Sequencing Primer
(F):5'- GTACAGCTACAGTGTCTTCACATG -3'
(R):5'- GCCACGAAATCCCCATGTTTATTTTC -3'
Posted On 2015-07-07