Incidental Mutation 'R6576:4933430I17Rik'
ID 523494
Institutional Source Beutler Lab
Gene Symbol 4933430I17Rik
Ensembl Gene ENSMUSG00000058046
Gene Name RIKEN cDNA 4933430I17 gene
Synonyms
MMRRC Submission 044700-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6576 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 62443606-62466230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62450842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 102 (T102S)
Ref Sequence ENSEMBL: ENSMUSP00000050465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062145]
AlphaFold Q8BHW4
Predicted Effect possibly damaging
Transcript: ENSMUST00000062145
AA Change: T102S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000050465
Gene: ENSMUSG00000058046
AA Change: T102S

DomainStartEndE-ValueType
Pfam:DUF4647 22 481 7.3e-182 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 92% (34/37)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 C A 11: 53,291,268 (GRCm39) H743N probably damaging Het
Apba3 A G 10: 81,108,925 (GRCm39) T563A probably benign Het
Arhgap20 T C 9: 51,760,578 (GRCm39) S774P probably benign Het
Asap2 A G 12: 21,294,704 (GRCm39) Y528C probably damaging Het
Cep162 A G 9: 87,099,198 (GRCm39) S767P probably benign Het
Ces1b T A 8: 93,783,547 (GRCm39) T558S probably benign Het
Chd8 T C 14: 52,453,533 (GRCm39) Y1176C probably damaging Het
Cldn15 A T 5: 137,003,470 (GRCm39) E157D probably damaging Het
Col4a3 T A 1: 82,686,295 (GRCm39) probably null Het
Cpsf1 CCCCTGCATGAGGCAGGTCCC CCCC 15: 76,481,655 (GRCm39) probably null Het
Dnaaf3 A G 7: 4,526,379 (GRCm39) I566T probably benign Het
Drc7 A T 8: 95,801,886 (GRCm39) I716F probably damaging Het
Eddm13 G A 7: 6,280,541 (GRCm39) probably benign Het
Fat3 G A 9: 16,288,506 (GRCm39) T339I probably damaging Het
Fat4 T C 3: 39,033,839 (GRCm39) I2497T probably benign Het
Fmo6 A G 1: 162,750,264 (GRCm39) F264S probably damaging Het
Gtf2i T C 5: 134,292,556 (GRCm39) D356G probably damaging Het
Id1 T C 2: 152,578,583 (GRCm39) V108A probably benign Het
Kcnq3 T C 15: 65,897,027 (GRCm39) D291G possibly damaging Het
Klc3 G T 7: 19,131,905 (GRCm39) D157E possibly damaging Het
Lasp1 C T 11: 97,724,402 (GRCm39) R94C probably damaging Het
Lmbr1 A T 5: 29,496,308 (GRCm39) M93K probably damaging Het
Lrrc75a G A 11: 62,496,695 (GRCm39) P289L probably damaging Het
Med11 G T 11: 70,343,996 (GRCm39) K105N probably benign Het
Mrgprx2 A T 7: 48,132,380 (GRCm39) I146N probably damaging Het
Mrpl20 A G 4: 155,891,371 (GRCm39) I69V probably benign Het
Pik3c3 A G 18: 30,475,794 (GRCm39) probably benign Het
Rad54b T A 4: 11,601,577 (GRCm39) N377K probably benign Het
Rilp A G 11: 75,403,218 (GRCm39) probably null Het
Ripk2 A T 4: 16,131,558 (GRCm39) probably null Het
Rnf167 A C 11: 70,540,588 (GRCm39) K156T possibly damaging Het
Shld2 T C 14: 33,990,199 (GRCm39) T236A probably damaging Het
Snx29 T C 16: 11,532,920 (GRCm39) probably null Het
Sox6 T A 7: 115,300,937 (GRCm39) I177F probably damaging Het
Tln1 A T 4: 43,555,419 (GRCm39) probably null Het
Unc13a T A 8: 72,106,122 (GRCm39) T661S probably benign Het
Vmn2r23 A G 6: 123,710,232 (GRCm39) T512A probably benign Het
Vmn2r87 G A 10: 130,314,654 (GRCm39) L311F probably benign Het
Wdr64 G T 1: 175,633,494 (GRCm39) S915I possibly damaging Het
Xpo5 T A 17: 46,551,734 (GRCm39) probably null Het
Zswim8 T C 14: 20,771,942 (GRCm39) V1548A probably benign 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
R4323:4933430I17Rik UTSW 4 62,465,548 (GRCm39) missense probably damaging 0.98
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
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'- AAGGTGTGTTAGCTAACCTCC -3'
(R):5'- AGCCTCATACATGCTAAGCC -3'

Sequencing Primer
(F):5'- AGGTGTGTTAGCTAACCTCCATCATC -3'
(R):5'- ACATCCCCAGCCCTTAGTG -3'
Posted On 2018-06-22