Incidental Mutation 'R4724:4933434E20Rik'
ID 354649
Institutional Source Beutler Lab
Gene Symbol 4933434E20Rik
Ensembl Gene ENSMUSG00000027942
Gene Name RIKEN cDNA 4933434E20 gene
Synonyms
MMRRC Submission 041988-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4724 (G1)
Quality Score 222
Status Not validated
Chromosome 3
Chromosomal Location 89958941-89969754 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 89960848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Glutamic Acid at position 34 (Q34E)
Ref Sequence ENSEMBL: ENSMUSP00000066840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029552] [ENSMUST00000029553] [ENSMUST00000064639] [ENSMUST00000068798] [ENSMUST00000090908] [ENSMUST00000159064] [ENSMUST00000161918] [ENSMUST00000160640] [ENSMUST00000162114] [ENSMUST00000196633] [ENSMUST00000197903] [ENSMUST00000195995] [ENSMUST00000196843] [ENSMUST00000199834] [ENSMUST00000198322] [ENSMUST00000199929]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029552
AA Change: Q34E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029552
Gene: ENSMUSG00000027942
AA Change: Q34E

DomainStartEndE-ValueType
Pfam:NICE-3 1 189 1.3e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000029553
SMART Domains Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 1.31e-9 SMART
low complexity region 124 152 N/A INTRINSIC
low complexity region 162 190 N/A INTRINSIC
low complexity region 213 226 N/A INTRINSIC
low complexity region 389 398 N/A INTRINSIC
low complexity region 400 409 N/A INTRINSIC
low complexity region 459 484 N/A INTRINSIC
Pfam:DUF3697 514 546 4e-22 PFAM
low complexity region 554 589 N/A INTRINSIC
low complexity region 665 675 N/A INTRINSIC
low complexity region 714 745 N/A INTRINSIC
low complexity region 748 804 N/A INTRINSIC
low complexity region 808 822 N/A INTRINSIC
low complexity region 893 916 N/A INTRINSIC
low complexity region 1038 1051 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064639
SMART Domains Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 1.31e-9 SMART
low complexity region 124 152 N/A INTRINSIC
low complexity region 162 190 N/A INTRINSIC
low complexity region 213 226 N/A INTRINSIC
low complexity region 394 403 N/A INTRINSIC
low complexity region 405 414 N/A INTRINSIC
low complexity region 464 489 N/A INTRINSIC
Pfam:DUF3697 520 551 4.1e-18 PFAM
low complexity region 559 594 N/A INTRINSIC
low complexity region 670 680 N/A INTRINSIC
low complexity region 719 750 N/A INTRINSIC
low complexity region 753 809 N/A INTRINSIC
low complexity region 813 827 N/A INTRINSIC
low complexity region 898 921 N/A INTRINSIC
low complexity region 1043 1056 N/A INTRINSIC
low complexity region 1077 1092 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000068798
AA Change: Q34E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066840
Gene: ENSMUSG00000027942
AA Change: Q34E

DomainStartEndE-ValueType
Pfam:NICE-3 1 171 2.6e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090908
SMART Domains Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 1.31e-9 SMART
low complexity region 124 148 N/A INTRINSIC
low complexity region 173 201 N/A INTRINSIC
low complexity region 224 237 N/A INTRINSIC
low complexity region 400 409 N/A INTRINSIC
low complexity region 411 420 N/A INTRINSIC
low complexity region 470 495 N/A INTRINSIC
Pfam:DUF3697 525 557 3.6e-22 PFAM
low complexity region 565 600 N/A INTRINSIC
low complexity region 676 686 N/A INTRINSIC
low complexity region 725 756 N/A INTRINSIC
low complexity region 759 815 N/A INTRINSIC
low complexity region 819 833 N/A INTRINSIC
low complexity region 904 927 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000159064
AA Change: Q34E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124554
Gene: ENSMUSG00000027942
AA Change: Q34E

DomainStartEndE-ValueType
Pfam:NICE-3 6 188 4.2e-80 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161918
AA Change: Q34E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123740
Gene: ENSMUSG00000027942
AA Change: Q34E

DomainStartEndE-ValueType
Pfam:NICE-3 1 64 2.2e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159202
SMART Domains Protein: ENSMUSP00000123777
Gene: ENSMUSG00000027942

DomainStartEndE-ValueType
Pfam:NICE-3 1 61 2.3e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160640
AA Change: Q34E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124028
Gene: ENSMUSG00000027942
AA Change: Q34E

DomainStartEndE-ValueType
Pfam:NICE-3 1 189 3.2e-89 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162114
AA Change: Q34E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124822
Gene: ENSMUSG00000027942
AA Change: Q34E

DomainStartEndE-ValueType
Pfam:NICE-3 1 189 1.4e-89 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160263
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196568
Predicted Effect probably benign
Transcript: ENSMUST00000196633
SMART Domains Protein: ENSMUSP00000143423
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 6.3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197903
SMART Domains Protein: ENSMUSP00000143519
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
PDB:1WJ7|A 31 81 7e-32 PDB
Blast:UBA 50 81 7e-16 BLAST
SCOP:d1efub3 51 81 3e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195995
SMART Domains Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 1.31e-9 SMART
low complexity region 124 148 N/A INTRINSIC
low complexity region 173 201 N/A INTRINSIC
low complexity region 224 237 N/A INTRINSIC
low complexity region 400 409 N/A INTRINSIC
low complexity region 411 420 N/A INTRINSIC
low complexity region 470 495 N/A INTRINSIC
Pfam:DUF3697 526 557 3.7e-18 PFAM
low complexity region 565 600 N/A INTRINSIC
low complexity region 676 686 N/A INTRINSIC
low complexity region 725 756 N/A INTRINSIC
low complexity region 759 815 N/A INTRINSIC
low complexity region 819 833 N/A INTRINSIC
low complexity region 904 927 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196843
SMART Domains Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 1.31e-9 SMART
low complexity region 124 152 N/A INTRINSIC
low complexity region 162 190 N/A INTRINSIC
low complexity region 213 226 N/A INTRINSIC
low complexity region 389 398 N/A INTRINSIC
low complexity region 400 409 N/A INTRINSIC
low complexity region 459 484 N/A INTRINSIC
Pfam:DUF3697 514 546 4e-22 PFAM
low complexity region 554 589 N/A INTRINSIC
low complexity region 665 675 N/A INTRINSIC
low complexity region 714 745 N/A INTRINSIC
low complexity region 748 804 N/A INTRINSIC
low complexity region 808 822 N/A INTRINSIC
low complexity region 893 916 N/A INTRINSIC
low complexity region 1038 1051 N/A INTRINSIC
low complexity region 1072 1087 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198282
Predicted Effect probably benign
Transcript: ENSMUST00000199834
SMART Domains Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 1.31e-9 SMART
low complexity region 124 148 N/A INTRINSIC
low complexity region 173 201 N/A INTRINSIC
low complexity region 224 237 N/A INTRINSIC
low complexity region 400 409 N/A INTRINSIC
low complexity region 411 420 N/A INTRINSIC
low complexity region 470 495 N/A INTRINSIC
Pfam:DUF3697 525 557 3.6e-22 PFAM
low complexity region 565 600 N/A INTRINSIC
low complexity region 676 686 N/A INTRINSIC
low complexity region 725 756 N/A INTRINSIC
low complexity region 759 815 N/A INTRINSIC
low complexity region 819 833 N/A INTRINSIC
low complexity region 904 927 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198322
SMART Domains Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
UBA 50 88 1.31e-9 SMART
low complexity region 124 152 N/A INTRINSIC
low complexity region 162 190 N/A INTRINSIC
low complexity region 213 226 N/A INTRINSIC
low complexity region 369 378 N/A INTRINSIC
low complexity region 380 389 N/A INTRINSIC
low complexity region 439 464 N/A INTRINSIC
Pfam:DUF3697 494 526 4.1e-22 PFAM
low complexity region 534 569 N/A INTRINSIC
low complexity region 645 655 N/A INTRINSIC
low complexity region 694 725 N/A INTRINSIC
low complexity region 728 784 N/A INTRINSIC
low complexity region 788 802 N/A INTRINSIC
low complexity region 873 896 N/A INTRINSIC
low complexity region 1017 1030 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199929
SMART Domains Protein: ENSMUSP00000142488
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
PDB:1WJ7|A 31 57 2e-12 PDB
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abra T C 15: 41,729,302 (GRCm39) D366G probably damaging Het
Acvr2a T C 2: 48,760,447 (GRCm39) S68P probably damaging Het
Adam28 T A 14: 68,864,326 (GRCm39) R492S probably damaging Het
Adamts1 T A 16: 85,599,393 (GRCm39) E69V probably benign Het
Adgra1 A T 7: 139,455,505 (GRCm39) M378L probably benign Het
Adgra2 T A 8: 27,588,850 (GRCm39) N101K possibly damaging Het
Adhfe1 T A 1: 9,646,475 (GRCm39) F449L probably damaging Het
Akap6 T A 12: 52,842,668 (GRCm39) S5R possibly damaging Het
Akap9 G A 5: 4,105,339 (GRCm39) R2883Q probably benign Het
Ank3 T A 10: 69,542,688 (GRCm39) I16N probably benign Het
Api5 A T 2: 94,253,816 (GRCm39) F296I possibly damaging Het
Ceacam14 G T 7: 17,547,975 (GRCm39) probably null Het
Cep295 C T 9: 15,242,128 (GRCm39) G1768S probably damaging Het
Cldn12 A G 5: 5,558,385 (GRCm39) F14S probably damaging Het
Cp C A 3: 20,026,811 (GRCm39) T413K probably benign Het
Ctdsp2 T G 10: 126,828,938 (GRCm39) V104G probably damaging Het
Ctrc T A 4: 141,573,607 (GRCm39) probably null Het
Dbt T C 3: 116,326,945 (GRCm39) I98T probably damaging Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dctn1 T A 6: 83,166,920 (GRCm39) M257K possibly damaging Het
Depp1 T A 6: 116,629,096 (GRCm39) C146* probably null Het
Dlgap5 C T 14: 47,638,977 (GRCm39) probably null Het
Drd3 G T 16: 43,643,164 (GRCm39) E467* probably null Het
Exoc8 A G 8: 125,623,989 (GRCm39) V126A probably benign Het
Fam185a T A 5: 21,660,785 (GRCm39) S267T probably damaging Het
Fhod1 T C 8: 106,064,493 (GRCm39) probably benign Het
Fn1 T C 1: 71,687,307 (GRCm39) probably null Het
Gadl1 A T 9: 115,783,685 (GRCm39) T214S possibly damaging Het
Gem G T 4: 11,706,074 (GRCm39) R54L probably damaging Het
Ghr A G 15: 3,355,422 (GRCm39) V287A probably benign Het
Gm3642 G A 14: 18,212,879 (GRCm39) T215I probably benign Het
Grip1 T A 10: 119,874,588 (GRCm39) I732K probably benign Het
Gtpbp2 A T 17: 46,478,147 (GRCm39) probably null Het
Heatr6 C T 11: 83,670,374 (GRCm39) R976* probably null Het
Hipk2 T A 6: 38,675,327 (GRCm39) T1084S probably benign Het
Hmcn1 T C 1: 150,570,584 (GRCm39) probably null Het
Hspg2 T A 4: 137,249,438 (GRCm39) M1328K probably damaging Het
Ifna4 C A 4: 88,760,519 (GRCm39) T141K probably benign Het
Ighv1-64 A G 12: 115,471,466 (GRCm39) V17A probably benign Het
Iqgap2 G T 13: 95,772,005 (GRCm39) N1391K possibly damaging Het
Irf7 A T 7: 140,844,648 (GRCm39) L148Q possibly damaging Het
Kat6b G A 14: 21,711,030 (GRCm39) R768K probably benign Het
Lepr G A 4: 101,622,562 (GRCm39) W447* probably null Het
Letmd1 A G 15: 100,367,619 (GRCm39) Y59C probably damaging Het
Lingo4 A T 3: 94,310,183 (GRCm39) K374* probably null Het
Loxl4 G T 19: 42,596,785 (GRCm39) D62E probably benign Het
Lrfn2 A G 17: 49,377,462 (GRCm39) D181G probably damaging Het
Lrrc71 A T 3: 87,646,481 (GRCm39) F526L probably damaging Het
Ltbp1 A T 17: 75,620,003 (GRCm39) M711L probably damaging Het
Mcm7 A T 5: 138,167,387 (GRCm39) D78E probably damaging Het
Mdh1 T C 11: 21,512,957 (GRCm39) N136D probably damaging Het
Meltf T A 16: 31,711,323 (GRCm39) N515K probably benign Het
Mis18bp1 T A 12: 65,205,513 (GRCm39) T220S probably benign Het
Mtss1 C T 15: 58,953,367 (GRCm39) V4M probably damaging Het
Nacc2 A T 2: 25,980,185 (GRCm39) F84I probably damaging Het
Nedd9 A G 13: 41,470,073 (GRCm39) V360A possibly damaging Het
Nek11 T A 9: 105,270,169 (GRCm39) I18F possibly damaging Het
Nkd2 C T 13: 73,995,124 (GRCm39) V13M probably damaging Het
Nkx6-3 A G 8: 23,646,285 (GRCm39) I152V probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Oprm1 A T 10: 6,708,656 (GRCm39) R16* probably null Het
Or1e16 A T 11: 73,285,981 (GRCm39) I289N probably damaging Het
Or51b4 A G 7: 103,530,856 (GRCm39) V198A probably benign Het
Or5an1 T C 19: 12,260,460 (GRCm39) L16P probably damaging Het
Or5p69 T A 7: 107,967,205 (GRCm39) F169L probably benign Het
Or6d15 T C 6: 116,559,898 (GRCm39) N3S probably damaging Het
Or7a36 A G 10: 78,820,356 (GRCm39) H244R probably damaging Het
Ostf1 G A 19: 18,571,231 (GRCm39) P62L probably damaging Het
Pcdha2 A T 18: 37,073,568 (GRCm39) T400S possibly damaging Het
Pcdha5 A T 18: 37,094,549 (GRCm39) T353S possibly damaging Het
Pelo A G 13: 115,225,271 (GRCm39) F318S probably damaging Het
Polr2f T C 15: 79,030,269 (GRCm39) V36A probably benign Het
Ppan G A 9: 20,799,806 (GRCm39) R41H probably benign Het
Ppp1r21 C T 17: 88,863,019 (GRCm39) R253* probably null Het
Prf1 T A 10: 61,139,487 (GRCm39) W482R probably damaging Het
Ralgapa2 T C 2: 146,187,453 (GRCm39) T1397A possibly damaging Het
Rev3l T A 10: 39,722,802 (GRCm39) Y2598* probably null Het
Scaf11 G T 15: 96,312,729 (GRCm39) D1437E probably benign Het
Sec23a C T 12: 59,025,292 (GRCm39) G510R probably damaging Het
Sel1l2 A G 2: 140,082,847 (GRCm39) M597T probably damaging Het
Slc11a2 A T 15: 100,304,219 (GRCm39) S160T possibly damaging Het
Slc18a1 A T 8: 69,526,301 (GRCm39) L129* probably null Het
Smg8 A C 11: 86,977,047 (GRCm39) L178R probably benign Het
Sp4 T C 12: 118,225,544 (GRCm39) T607A probably benign Het
Ssbp2 A G 13: 91,836,933 (GRCm39) D266G possibly damaging Het
Sstr3 A T 15: 78,423,897 (GRCm39) Y283* probably null Het
Stk32b C T 5: 37,612,278 (GRCm39) probably null Het
Svep1 T C 4: 58,070,752 (GRCm39) T2345A possibly damaging Het
Synpo2 A G 3: 122,907,940 (GRCm39) S459P probably damaging Het
Sytl2 A G 7: 89,998,000 (GRCm39) M1V probably null Het
Tas2r102 T A 6: 132,739,520 (GRCm39) W143R probably damaging Het
Thy1 T C 9: 43,958,645 (GRCm39) V129A probably damaging Het
Tlr2 A T 3: 83,745,492 (GRCm39) I197N probably damaging Het
Tmem101 A G 11: 102,044,269 (GRCm39) I206T probably benign Het
Tmem108 A G 9: 103,376,688 (GRCm39) S254P possibly damaging Het
Tmem198b T C 10: 128,637,350 (GRCm39) Q263R probably damaging Het
Vangl1 T C 3: 102,091,870 (GRCm39) D72G probably damaging Het
Vmn1r4 T A 6: 56,934,349 (GRCm39) D284E probably benign Het
Vmn2r31 G A 7: 7,387,757 (GRCm39) L605F possibly damaging Het
Zfand4 T C 6: 116,250,780 (GRCm39) V70A probably damaging Het
Zfp54 A G 17: 21,653,665 (GRCm39) E53G probably damaging Het
Zfp541 A T 7: 15,815,612 (GRCm39) I805F probably damaging Het
Zfp976 T C 7: 42,262,457 (GRCm39) H460R possibly damaging Het
Other mutations in 4933434E20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:4933434E20Rik APN 3 89,960,400 (GRCm39) missense possibly damaging 0.65
IGL01621:4933434E20Rik APN 3 89,971,809 (GRCm39) missense possibly damaging 0.82
IGL01984:4933434E20Rik APN 3 89,970,537 (GRCm39) missense probably benign 0.00
IGL02005:4933434E20Rik APN 3 89,965,927 (GRCm39) missense probably damaging 1.00
R0446:4933434E20Rik UTSW 3 89,971,766 (GRCm39) missense probably benign 0.00
R1717:4933434E20Rik UTSW 3 89,963,544 (GRCm39) missense probably benign 0.23
R1816:4933434E20Rik UTSW 3 89,960,398 (GRCm39) missense possibly damaging 0.89
R2170:4933434E20Rik UTSW 3 89,963,611 (GRCm39) missense probably benign 0.07
R2299:4933434E20Rik UTSW 3 89,971,845 (GRCm39) missense possibly damaging 0.88
R2981:4933434E20Rik UTSW 3 89,965,938 (GRCm39) missense probably benign 0.00
R3879:4933434E20Rik UTSW 3 89,970,561 (GRCm39) unclassified probably benign
R4065:4933434E20Rik UTSW 3 89,966,073 (GRCm39) nonsense probably null
R4724:4933434E20Rik UTSW 3 89,960,890 (GRCm39) missense probably damaging 0.99
R4724:4933434E20Rik UTSW 3 89,960,849 (GRCm39) missense probably damaging 1.00
R4835:4933434E20Rik UTSW 3 89,970,516 (GRCm39) missense probably benign 0.22
R5076:4933434E20Rik UTSW 3 89,963,559 (GRCm39) missense probably benign 0.01
R6126:4933434E20Rik UTSW 3 89,963,881 (GRCm39) missense probably damaging 0.98
R6337:4933434E20Rik UTSW 3 89,969,040 (GRCm39) missense probably benign 0.03
R6562:4933434E20Rik UTSW 3 89,970,543 (GRCm39) missense probably benign 0.38
R7312:4933434E20Rik UTSW 3 89,969,021 (GRCm39) missense probably benign 0.07
R7316:4933434E20Rik UTSW 3 89,969,020 (GRCm39) missense probably benign
R7473:4933434E20Rik UTSW 3 89,965,960 (GRCm39) critical splice donor site probably null
R7990:4933434E20Rik UTSW 3 89,970,549 (GRCm39) missense probably damaging 0.98
R8125:4933434E20Rik UTSW 3 89,972,818 (GRCm39) missense possibly damaging 0.92
R9268:4933434E20Rik UTSW 3 89,969,030 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- TCTAGAGCCCAGATTAACATGCC -3'
(R):5'- GCAGTGAGCAGGAAGTTATTGC -3'

Sequencing Primer
(F):5'- AGATTAACATGCCTCTCCGTTACTAG -3'
(R):5'- AGCAGGAAGTTATTGCTTAGACTG -3'
Posted On 2015-10-21