Incidental Mutation 'R7309:4932414N04Rik'
ID 567428
Institutional Source Beutler Lab
Gene Symbol 4932414N04Rik
Ensembl Gene ENSMUSG00000079324
Gene Name RIKEN cDNA 4932414N04 gene
Synonyms
MMRRC Submission 045408-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7309 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 68487135-68578876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 68546530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 71 (I71L)
Ref Sequence ENSEMBL: ENSMUSP00000135792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055930] [ENSMUST00000128259]
AlphaFold Q8CEQ9
Predicted Effect probably benign
Transcript: ENSMUST00000055930
AA Change: I71L

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
AA Change: I71L

DomainStartEndE-ValueType
coiled coil region 154 241 N/A INTRINSIC
Pfam:DUF3496 265 361 8.5e-12 PFAM
internal_repeat_1 456 597 1.76e-26 PROSPERO
internal_repeat_1 601 737 1.76e-26 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000128259
AA Change: I71L

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
AA Change: I71L

DomainStartEndE-ValueType
internal_repeat_1 5 39 6.02e-5 PROSPERO
internal_repeat_1 209 242 6.02e-5 PROSPERO
low complexity region 286 297 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 94% (47/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A C 5: 109,884,819 (GRCm39) H346Q probably damaging Het
Anapc1 A G 2: 128,516,604 (GRCm39) S377P probably damaging Het
Cldnd2 A G 7: 43,091,133 (GRCm39) T22A possibly damaging Het
Comp A T 8: 70,826,328 (GRCm39) probably null Het
Cop1 A G 1: 159,134,195 (GRCm39) K446E probably damaging Het
Cox18 T C 5: 90,362,917 (GRCm39) T314A possibly damaging Het
Csrp3 A G 7: 48,485,317 (GRCm39) V60A probably benign Het
Dnah8 A T 17: 31,093,988 (GRCm39) Y4694F probably damaging Het
Dnm1l A G 16: 16,139,510 (GRCm39) Y493H probably damaging Het
Esf1 A T 2: 139,967,011 (GRCm39) probably null Het
Fam187a T A 11: 102,776,832 (GRCm39) V212E probably damaging Het
Fign A T 2: 63,810,301 (GRCm39) M323K possibly damaging Het
Foxf2 A G 13: 31,810,496 (GRCm39) K145R probably damaging Het
Fxyd5 T C 7: 30,734,829 (GRCm39) N133D probably benign Het
Hnrnpdl A T 5: 100,185,482 (GRCm39) L240* probably null Het
Kcna7 T G 7: 45,058,679 (GRCm39) F322C probably damaging Het
Kcnj9 A G 1: 172,153,825 (GRCm39) C100R probably damaging Het
Lrrc14b C A 13: 74,511,321 (GRCm39) C253F probably benign Het
Map3k11 T C 19: 5,740,486 (GRCm39) V71A probably damaging Het
Med13 C A 11: 86,181,888 (GRCm39) M1315I probably benign Het
Mettl24 T C 10: 40,686,496 (GRCm39) V291A probably benign Het
Miox G T 15: 89,220,252 (GRCm39) C148F probably damaging Het
Mpdz A T 4: 81,300,195 (GRCm39) probably null Het
Mthfsd G A 8: 121,835,070 (GRCm39) probably benign Het
Myh15 G A 16: 48,916,828 (GRCm39) A383T probably benign Het
Nlrc5 A G 8: 95,200,670 (GRCm39) H117R probably benign Het
Ntrk1 A T 3: 87,702,384 (GRCm39) M23K probably benign Het
Or14c45 T A 7: 86,176,349 (GRCm39) L128H probably damaging Het
Or4c3d T A 2: 89,881,801 (GRCm39) N289I probably damaging Het
Or8g21 T A 9: 38,906,576 (GRCm39) S52C probably damaging Het
Pkd1l3 A G 8: 110,374,893 (GRCm39) probably null Het
Plcz1 A T 6: 139,968,882 (GRCm39) D185E probably damaging Het
Plekhg5 C A 4: 152,196,985 (GRCm39) Q757K possibly damaging Het
Prr23a2 T A 9: 98,739,027 (GRCm39) D128E probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Sgsm1 A T 5: 113,416,712 (GRCm39) probably null Het
Sh3bp5 C T 14: 31,100,246 (GRCm39) V221M probably benign Het
Slc25a27 A T 17: 43,975,083 (GRCm39) D59E probably benign Het
Slc35e1 G C 8: 73,246,358 (GRCm39) R25G unknown Het
Slc4a4 T C 5: 89,318,610 (GRCm39) V626A probably benign Het
Slfn5 T C 11: 82,847,529 (GRCm39) L138P probably damaging Het
Stat1 A G 1: 52,165,780 (GRCm39) probably null Het
Tnks2 G T 19: 36,829,936 (GRCm39) A206S probably damaging Het
Trav7-1 C A 14: 52,892,521 (GRCm39) Q25K probably benign Het
Ttn A G 2: 76,728,670 (GRCm39) M5470T unknown Het
Vps35 A T 8: 86,001,596 (GRCm39) D407E probably benign Het
Wdr90 T C 17: 26,079,676 (GRCm39) D190G probably benign Het
Wdr93 T A 7: 79,423,103 (GRCm39) F456I possibly damaging Het
Wdr95 A G 5: 149,529,758 (GRCm39) E675G probably benign Het
Other mutations in 4932414N04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:4932414N04Rik APN 2 68,563,219 (GRCm39) missense probably benign 0.02
IGL01384:4932414N04Rik APN 2 68,575,749 (GRCm39) missense possibly damaging 0.53
IGL02170:4932414N04Rik APN 2 68,561,467 (GRCm39) missense probably benign 0.02
IGL02650:4932414N04Rik APN 2 68,571,881 (GRCm39) missense probably benign 0.00
IGL02707:4932414N04Rik APN 2 68,561,474 (GRCm39) missense possibly damaging 0.71
IGL02737:4932414N04Rik APN 2 68,566,904 (GRCm39) missense possibly damaging 0.53
IGL03351:4932414N04Rik APN 2 68,561,427 (GRCm39) missense probably benign
R0328:4932414N04Rik UTSW 2 68,574,624 (GRCm39) missense possibly damaging 0.53
R0362:4932414N04Rik UTSW 2 68,563,261 (GRCm39) missense probably benign 0.00
R0638:4932414N04Rik UTSW 2 68,547,572 (GRCm39) missense probably benign 0.18
R1201:4932414N04Rik UTSW 2 68,546,626 (GRCm39) missense possibly damaging 0.53
R1381:4932414N04Rik UTSW 2 68,561,430 (GRCm39) missense probably benign 0.18
R1456:4932414N04Rik UTSW 2 68,546,558 (GRCm39) missense possibly damaging 0.86
R2001:4932414N04Rik UTSW 2 68,571,800 (GRCm39) missense probably benign
R2051:4932414N04Rik UTSW 2 68,541,392 (GRCm39) missense possibly damaging 0.72
R2228:4932414N04Rik UTSW 2 68,559,935 (GRCm39) missense probably benign 0.00
R2292:4932414N04Rik UTSW 2 68,562,483 (GRCm39) missense probably benign 0.00
R2357:4932414N04Rik UTSW 2 68,569,844 (GRCm39) missense possibly damaging 0.86
R2484:4932414N04Rik UTSW 2 68,541,819 (GRCm39) missense possibly damaging 0.85
R3035:4932414N04Rik UTSW 2 68,575,762 (GRCm39) missense probably benign 0.00
R3916:4932414N04Rik UTSW 2 68,562,329 (GRCm39) missense possibly damaging 0.71
R3950:4932414N04Rik UTSW 2 68,494,747 (GRCm39) critical splice donor site probably null
R3951:4932414N04Rik UTSW 2 68,494,747 (GRCm39) critical splice donor site probably null
R3952:4932414N04Rik UTSW 2 68,494,747 (GRCm39) critical splice donor site probably null
R4091:4932414N04Rik UTSW 2 68,575,722 (GRCm39) missense possibly damaging 0.73
R4118:4932414N04Rik UTSW 2 68,566,857 (GRCm39) missense probably benign
R4153:4932414N04Rik UTSW 2 68,498,941 (GRCm39) intron probably benign
R4210:4932414N04Rik UTSW 2 68,490,222 (GRCm39) start gained probably benign
R4614:4932414N04Rik UTSW 2 68,575,804 (GRCm39) missense probably benign 0.01
R4818:4932414N04Rik UTSW 2 68,571,810 (GRCm39) missense probably benign
R5202:4932414N04Rik UTSW 2 68,562,308 (GRCm39) missense probably benign
R5466:4932414N04Rik UTSW 2 68,541,733 (GRCm39) missense probably benign 0.11
R5585:4932414N04Rik UTSW 2 68,571,770 (GRCm39) missense probably benign 0.00
R5602:4932414N04Rik UTSW 2 68,578,712 (GRCm39) makesense probably null
R5846:4932414N04Rik UTSW 2 68,562,377 (GRCm39) missense unknown
R5902:4932414N04Rik UTSW 2 68,539,281 (GRCm39) start codon destroyed probably null
R6002:4932414N04Rik UTSW 2 68,492,768 (GRCm39) splice site probably null
R6029:4932414N04Rik UTSW 2 68,524,370 (GRCm39) splice site probably null
R6093:4932414N04Rik UTSW 2 68,490,214 (GRCm39) splice site probably benign
R6168:4932414N04Rik UTSW 2 68,571,827 (GRCm39) missense possibly damaging 0.86
R6300:4932414N04Rik UTSW 2 68,561,453 (GRCm39) missense possibly damaging 0.96
R6322:4932414N04Rik UTSW 2 68,559,843 (GRCm39) missense probably benign 0.00
R6533:4932414N04Rik UTSW 2 68,546,662 (GRCm39) nonsense probably null
R6547:4932414N04Rik UTSW 2 68,490,251 (GRCm39) utr 5 prime probably benign
R7400:4932414N04Rik UTSW 2 68,496,547 (GRCm39) missense unknown
R7454:4932414N04Rik UTSW 2 68,518,648 (GRCm39) missense unknown
R7481:4932414N04Rik UTSW 2 68,494,575 (GRCm39) missense unknown
R7498:4932414N04Rik UTSW 2 68,498,012 (GRCm39) missense unknown
R7523:4932414N04Rik UTSW 2 68,569,673 (GRCm39) missense probably benign 0.01
R7523:4932414N04Rik UTSW 2 68,492,824 (GRCm39) missense unknown
R7583:4932414N04Rik UTSW 2 68,569,670 (GRCm39) missense probably damaging 0.98
R7701:4932414N04Rik UTSW 2 68,561,548 (GRCm39) missense possibly damaging 0.60
R7746:4932414N04Rik UTSW 2 68,559,339 (GRCm39) missense probably benign 0.33
R7778:4932414N04Rik UTSW 2 68,569,855 (GRCm39) missense possibly damaging 0.73
R7985:4932414N04Rik UTSW 2 68,494,693 (GRCm39) missense unknown
R8525:4932414N04Rik UTSW 2 68,559,378 (GRCm39) missense possibly damaging 0.83
R8765:4932414N04Rik UTSW 2 68,566,956 (GRCm39) missense possibly damaging 0.85
R8906:4932414N04Rik UTSW 2 68,562,498 (GRCm39) missense possibly damaging 0.85
R9406:4932414N04Rik UTSW 2 68,498,019 (GRCm39) missense unknown
R9627:4932414N04Rik UTSW 2 68,487,834 (GRCm39) unclassified probably benign
X0025:4932414N04Rik UTSW 2 68,559,360 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- ACTGTAGGCACTCAGTTTGC -3'
(R):5'- TATTTCCCGCAAGACTCCGTG -3'

Sequencing Primer
(F):5'- GCAGCTGTTTACCATGAATGACAGAC -3'
(R):5'- TTCACACCTCTGCAGAGCGAG -3'
Posted On 2019-06-26