Incidental Mutation 'R2228:4932414N04Rik'
ID 239828
Institutional Source Beutler Lab
Gene Symbol 4932414N04Rik
Ensembl Gene ENSMUSG00000079324
Gene Name RIKEN cDNA 4932414N04 gene
Synonyms
MMRRC Submission 040229-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2228 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 68487135-68578876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68559935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 242 (T242A)
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: T242A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
AA Change: T242A

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: T242A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
AA Change: T242A

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 A T 8: 41,133,404 (GRCm39) I291L probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adcy8 C A 15: 64,694,056 (GRCm39) R407L possibly damaging Het
Aldh3b2 C T 19: 4,031,133 (GRCm39) P461S probably benign Het
Araf T C X: 20,717,912 (GRCm39) F144L probably benign Het
Atp11b G T 3: 35,861,091 (GRCm39) D193Y probably damaging Het
Atp6v1b2 C A 8: 69,555,411 (GRCm39) probably null Het
Bclaf1 T A 10: 20,215,624 (GRCm39) probably benign Het
Cadps A G 14: 12,465,935 (GRCm38) Y987H probably benign Het
Capn6 T G X: 142,587,785 (GRCm39) T498P possibly damaging Het
Ccdc153 T A 9: 44,154,314 (GRCm39) L47Q probably damaging Het
Ccdc180 G T 4: 45,948,856 (GRCm39) probably null Het
Cep162 G T 9: 87,126,384 (GRCm39) T176K probably benign Het
Cpsf2 A G 12: 101,956,088 (GRCm39) D297G probably benign Het
Entpd8 T C 2: 24,975,028 (GRCm39) M453T probably damaging Het
Eprs1 T A 1: 185,099,734 (GRCm39) L18Q probably damaging Het
Fem1b G T 9: 62,704,020 (GRCm39) C413* probably null Het
Flrt1 T A 19: 7,072,723 (GRCm39) D608V probably damaging Het
Fstl5 C A 3: 76,389,659 (GRCm39) N285K probably damaging Het
Golga1 T C 2: 38,913,183 (GRCm39) D543G probably benign Het
Hivep2 A G 10: 14,004,107 (GRCm39) H235R probably damaging Het
Htr2c G C X: 145,977,186 (GRCm39) W325C probably damaging Het
Htr2c G T X: 145,977,188 (GRCm39) C326F probably damaging Het
Ifit1bl2 G T 19: 34,596,630 (GRCm39) L329M possibly damaging Het
Igsf9b T C 9: 27,244,792 (GRCm39) S920P probably damaging Het
Macroh2a1 C T 13: 56,232,075 (GRCm39) G235S probably damaging Het
Mcm8 T A 2: 132,662,041 (GRCm39) I125K possibly damaging Het
Micall1 C T 15: 79,014,036 (GRCm39) R644W probably damaging Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Myo9a A G 9: 59,801,463 (GRCm39) E1887G probably benign Het
Nbn A G 4: 15,970,904 (GRCm39) T296A probably benign Het
Nckap1l T C 15: 103,364,361 (GRCm39) probably null Het
Neb T C 2: 52,123,007 (GRCm39) R3734G probably benign Het
Nup93 C T 8: 95,030,819 (GRCm39) T305I probably benign Het
Or5bw2 A T 7: 6,573,802 (GRCm39) M271L probably benign Het
P2ry4 A G X: 99,637,553 (GRCm39) L115P probably damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ppp1r26 T C 2: 28,343,798 (GRCm39) F1143L possibly damaging Het
Ppp1r3c C A 19: 36,711,098 (GRCm39) R224L probably benign Het
Ptafr T G 4: 132,306,691 (GRCm39) I27R possibly damaging Het
Pwwp2b T C 7: 138,835,104 (GRCm39) C182R probably damaging Het
Reln A G 5: 22,192,076 (GRCm39) F1455L possibly damaging Het
Rufy1 C T 11: 50,288,611 (GRCm39) probably null Het
Samd9l T C 6: 3,376,910 (GRCm39) H117R probably benign Het
Sfxn4 C T 19: 60,839,458 (GRCm39) G200E probably damaging Het
Sipa1l3 T A 7: 29,077,364 (GRCm39) K803* probably null Het
Smim23 C A 11: 32,771,870 (GRCm39) Q65H probably damaging Het
Spata18 A T 5: 73,824,244 (GRCm39) I156L possibly damaging Het
Sppl2b G A 10: 80,701,451 (GRCm39) V389M probably damaging Het
Srbd1 T C 17: 86,292,651 (GRCm39) I973V probably damaging Het
Ssx2ip C T 3: 146,123,531 (GRCm39) P10L probably damaging Het
Taf2 A C 15: 54,928,042 (GRCm39) D120E possibly damaging Het
Tanc1 T C 2: 59,555,068 (GRCm39) L42S probably benign Het
Tex15 C A 8: 34,061,265 (GRCm39) H232N probably benign Het
Tg A T 15: 66,545,860 (GRCm39) Q194L probably damaging Het
Tnfrsf22 C T 7: 143,198,513 (GRCm39) probably null Het
Tro A T X: 149,438,477 (GRCm39) M60K probably benign Het
Ttc38 G A 15: 85,728,704 (GRCm39) V219I probably benign Het
U2af2 T C 7: 5,078,672 (GRCm39) I417T probably damaging Het
Ube2r2 C T 4: 41,174,044 (GRCm39) H61Y probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn1r113 C T 7: 20,521,832 (GRCm39) S208F probably damaging Het
Wdr35 A G 12: 9,024,955 (GRCm39) K16E possibly damaging Het
Wwp1 A T 4: 19,641,745 (GRCm39) Y437N probably damaging Het
Zdhhc4 A C 5: 143,306,162 (GRCm39) W189G probably damaging Het
Zfp512 A T 5: 31,622,919 (GRCm39) K73N 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
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
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'- CGGACCGAGATGTAAATGAGATTC -3'
(R):5'- AGACTTTGGCTGAAAACAACTACAG -3'

Sequencing Primer
(F):5'- AAATCACCTACTTTCCAGACATTTC -3'
(R):5'- GGCTGAAAACAACTACAGTCTTTTC -3'
Posted On 2014-10-15