Incidental Mutation 'R4323:4933430I17Rik'
ID 323907
Institutional Source Beutler Lab
Gene Symbol 4933430I17Rik
Ensembl Gene ENSMUSG00000058046
Gene Name RIKEN cDNA 4933430I17 gene
Synonyms
MMRRC Submission 041094-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4323 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 62443606-62466230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62465548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 414 (Y414C)
Ref Sequence ENSEMBL: ENSMUSP00000050465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062145]
AlphaFold Q8BHW4
Predicted Effect probably damaging
Transcript: ENSMUST00000062145
AA Change: Y414C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050465
Gene: ENSMUSG00000058046
AA Change: Y414C

DomainStartEndE-ValueType
Pfam:DUF4647 22 481 7.3e-182 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 95% (59/62)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b1 T C 6: 34,287,862 (GRCm39) T166A probably benign Het
Ankhd1 C T 18: 36,711,686 (GRCm39) S94L probably damaging Het
B4galt3 G T 1: 171,103,515 (GRCm39) M68I possibly damaging Het
Bpnt1 A C 1: 185,088,786 (GRCm39) H312P probably benign Het
Ccdc178 T A 18: 22,166,600 (GRCm39) K530* probably null Het
Ccdc191 A G 16: 43,767,872 (GRCm39) E624G probably damaging Het
Clasp2 T C 9: 113,719,027 (GRCm39) V724A possibly damaging Het
Copa G T 1: 171,946,831 (GRCm39) C1022F probably damaging Het
Cwf19l2 T G 9: 3,430,452 (GRCm39) F261L probably damaging Het
Esr1 G A 10: 4,951,307 (GRCm39) V562M possibly damaging Het
Fap T C 2: 62,333,716 (GRCm39) H643R probably damaging Het
Fbxo38 T A 18: 62,648,232 (GRCm39) M769L probably benign Het
Fgfr1 A G 8: 26,063,915 (GRCm39) N814S probably benign Het
Hipk3 C A 2: 104,276,916 (GRCm39) V388L probably damaging Het
Hspa1l T A 17: 35,196,832 (GRCm39) Y290* probably null Het
Itsn1 G A 16: 91,615,440 (GRCm39) probably benign Het
Jam2 T C 16: 84,619,744 (GRCm39) probably benign Het
Kprp G A 3: 92,732,163 (GRCm39) R296W probably damaging Het
Med23 T C 10: 24,746,603 (GRCm39) I14T probably benign Het
Mitf A G 6: 97,968,910 (GRCm39) Y10C probably benign Het
Mpo T C 11: 87,686,865 (GRCm39) S165P probably damaging Het
Neb T G 2: 52,154,122 (GRCm39) M2330L possibly damaging Het
Nup214 T C 2: 31,884,696 (GRCm39) S486P probably benign Het
Or2y1f G A 11: 49,184,503 (GRCm39) M118I probably damaging Het
Parp6 G A 9: 59,537,969 (GRCm39) V205I possibly damaging Het
Pate2 A T 9: 35,581,767 (GRCm39) probably benign Het
Pdss1 T C 2: 22,802,608 (GRCm39) probably benign Het
Pira13 A G 7: 3,825,754 (GRCm39) S372P possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Septin1 G A 7: 126,816,200 (GRCm39) P77S probably damaging Het
Slitrk3 A G 3: 72,958,118 (GRCm39) L218P probably damaging Het
Sltm T C 9: 70,487,529 (GRCm39) I521T probably benign Het
Smchd1 A G 17: 71,735,270 (GRCm39) I618T probably benign Het
Sox6 A G 7: 115,179,798 (GRCm39) probably null Het
Sp8 A G 12: 118,812,171 (GRCm39) I9V probably benign Het
Usp9y T A Y: 1,434,407 (GRCm39) M352L possibly damaging Het
Vmn1r46 T C 6: 89,953,349 (GRCm39) M66T probably benign Het
Vmn2r111 A T 17: 22,792,159 (GRCm39) N32K probably benign Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Vps13d T A 4: 144,879,348 (GRCm39) T1486S probably benign Het
Wdr55 A G 18: 36,896,153 (GRCm39) N281S probably benign Het
Zswim6 G A 13: 108,025,938 (GRCm39) noncoding transcript Het
Other mutations in 4933430I17Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:4933430I17Rik APN 4 62,450,903 (GRCm39) splice site probably benign
IGL00326:4933430I17Rik APN 4 62,461,981 (GRCm39) splice site probably null
IGL01526:4933430I17Rik APN 4 62,450,858 (GRCm39) missense possibly damaging 0.71
IGL02152:4933430I17Rik APN 4 62,460,991 (GRCm39) missense possibly damaging 0.93
IGL03153:4933430I17Rik APN 4 62,465,563 (GRCm39) missense possibly damaging 0.85
R0281:4933430I17Rik UTSW 4 62,464,304 (GRCm39) nonsense probably null
R0436:4933430I17Rik UTSW 4 62,461,682 (GRCm39) splice site probably benign
R1459:4933430I17Rik UTSW 4 62,450,578 (GRCm39) missense probably damaging 0.99
R1807:4933430I17Rik UTSW 4 62,460,993 (GRCm39) nonsense probably null
R1930:4933430I17Rik UTSW 4 62,450,519 (GRCm39) missense possibly damaging 0.83
R1958:4933430I17Rik UTSW 4 62,457,146 (GRCm39) missense probably benign 0.09
R2118:4933430I17Rik UTSW 4 62,457,109 (GRCm39) missense possibly damaging 0.93
R2119:4933430I17Rik UTSW 4 62,457,109 (GRCm39) missense possibly damaging 0.93
R2124:4933430I17Rik UTSW 4 62,457,109 (GRCm39) missense possibly damaging 0.93
R4592:4933430I17Rik UTSW 4 62,457,164 (GRCm39) missense possibly damaging 0.93
R5708:4933430I17Rik UTSW 4 62,444,106 (GRCm39) missense probably benign 0.01
R6576:4933430I17Rik UTSW 4 62,450,842 (GRCm39) missense possibly damaging 0.71
R7506:4933430I17Rik UTSW 4 62,450,498 (GRCm39) missense possibly damaging 0.51
R7953:4933430I17Rik UTSW 4 62,450,896 (GRCm39) missense probably null 0.71
R8329:4933430I17Rik UTSW 4 62,461,978 (GRCm39) critical splice donor site probably null
R8348:4933430I17Rik UTSW 4 62,461,022 (GRCm39) critical splice donor site probably null
R8448:4933430I17Rik UTSW 4 62,461,022 (GRCm39) critical splice donor site probably null
R8699:4933430I17Rik UTSW 4 62,450,515 (GRCm39) missense probably damaging 0.98
R9516:4933430I17Rik UTSW 4 62,460,916 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGGTCTGGGAAGCAAAGTG -3'
(R):5'- GCAGCACTTCAGGAAAGACC -3'

Sequencing Primer
(F):5'- TGCTTTCAGTTCCAGGCAG -3'
(R):5'- GACCAGGGTCTCTTTAGGACTTC -3'
Posted On 2015-06-24