Incidental Mutation 'R2292:4932414N04Rik'
ID 245018
Institutional Source Beutler Lab
Gene Symbol 4932414N04Rik
Ensembl Gene ENSMUSG00000079324
Gene Name RIKEN cDNA 4932414N04 gene
Synonyms
MMRRC Submission 040291-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2292 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 68487135-68578876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68562483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 370 (I370T)
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: I370T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
AA Change: I370T

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: I370T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
AA Change: I370T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,650,518 (GRCm39) T1209A possibly damaging Het
Als2 T C 1: 59,226,544 (GRCm39) Q920R probably damaging Het
Arhgap20 T A 9: 51,760,743 (GRCm39) Y829N possibly damaging Het
Arhgap35 A T 7: 16,297,476 (GRCm39) F530I probably damaging Het
Arid4a G T 12: 71,108,315 (GRCm39) G40V probably damaging Het
Ascc2 T C 11: 4,629,352 (GRCm39) probably benign Het
Cacna1b C T 2: 24,496,632 (GRCm39) V2312I probably benign Het
Dctn6 T C 8: 34,559,679 (GRCm39) T159A probably benign Het
Ddx55 G T 5: 124,706,140 (GRCm39) A522S probably benign Het
Dnah6 G A 6: 72,998,092 (GRCm39) T4110I probably damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Dym A G 18: 75,332,283 (GRCm39) T504A possibly damaging Het
E130308A19Rik T C 4: 59,690,579 (GRCm39) Y138H probably damaging Het
Fgd4 A T 16: 16,253,864 (GRCm39) C568S possibly damaging Het
Fkbp4 A C 6: 128,413,625 (GRCm39) V6G probably damaging Het
Flg2 A T 3: 93,127,984 (GRCm39) S2299C unknown Het
Gdf2 A T 14: 33,667,145 (GRCm39) N289I possibly damaging Het
Gpr182 A G 10: 127,586,051 (GRCm39) I300T possibly damaging Het
Iqcg A G 16: 32,870,253 (GRCm39) V80A probably benign Het
Letm1 A AG 5: 33,926,859 (GRCm39) probably null Het
Lyst T G 13: 13,915,080 (GRCm39) F3258C probably damaging Het
Map3k12 T C 15: 102,408,574 (GRCm39) E870G probably damaging Het
Mphosph10 G A 7: 64,035,519 (GRCm39) P384L probably damaging Het
Ncoa4 T G 14: 31,895,413 (GRCm39) L179R probably damaging Het
Nlrp1c-ps A G 11: 71,137,188 (GRCm39) noncoding transcript Het
Nwd2 A T 5: 63,962,917 (GRCm39) M834L probably benign Het
Or10a49 A T 7: 108,468,223 (GRCm39) M46K probably benign Het
Or2w6 A G 13: 21,843,001 (GRCm39) M164T probably damaging Het
Pccb T C 9: 100,876,685 (GRCm39) E266G probably benign Het
Pcdhb2 T A 18: 37,430,297 (GRCm39) probably null Het
Pramel25 T C 4: 143,520,446 (GRCm39) I66T probably benign Het
Prdm13 A C 4: 21,683,914 (GRCm39) I119S unknown Het
Tchh A G 3: 93,349,689 (GRCm39) Y18C probably damaging Het
Tmem192 T C 8: 65,411,998 (GRCm39) V59A probably damaging Het
Trak2 A T 1: 58,974,916 (GRCm39) F92Y probably damaging Het
Trappc11 C T 8: 47,958,771 (GRCm39) G40D probably damaging Het
Ttc23 A T 7: 67,319,535 (GRCm39) I132F probably benign Het
Ttc9b A G 7: 27,355,405 (GRCm39) D225G probably benign Het
Ubr3 G T 2: 69,727,604 (GRCm39) probably benign Het
Vmn2r75 A C 7: 85,798,144 (GRCm39) C556W probably damaging Het
Zbtb41 T C 1: 139,368,097 (GRCm39) V595A probably damaging 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
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
R7309:4932414N04Rik UTSW 2 68,546,530 (GRCm39) missense probably benign 0.29
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'- AGGTCATGTCCCAGTTTGCC -3'
(R):5'- GTGCCTTTTCAACACTTCAGAAACTC -3'

Sequencing Primer
(F):5'- AGTTTGCCATGCTGACTCAG -3'
(R):5'- CTTTTGAAAGAGATAAGGGGCTTCCC -3'
Posted On 2014-10-30