Incidental Mutation 'R5093:4833420G17Rik'
ID 387950
Institutional Source Beutler Lab
Gene Symbol 4833420G17Rik
Ensembl Gene ENSMUSG00000062822
Gene Name RIKEN cDNA 4833420G17 gene
Synonyms
MMRRC Submission 042682-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5093 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 119599304-119622656 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) C to T at 119610573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026519] [ENSMUST00000224081] [ENSMUST00000224312] [ENSMUST00000225186] [ENSMUST00000225726]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026519
SMART Domains Protein: ENSMUSP00000026519
Gene: ENSMUSG00000062822

DomainStartEndE-ValueType
Pfam:DUF4524 9 154 5e-61 PFAM
Pfam:DUF4520 451 542 8.6e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000048965
Predicted Effect probably benign
Transcript: ENSMUST00000224081
Predicted Effect probably benign
Transcript: ENSMUST00000224312
Predicted Effect probably benign
Transcript: ENSMUST00000225186
Predicted Effect probably benign
Transcript: ENSMUST00000225726
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 99% (90/91)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,032,358 (GRCm39) L753Q probably damaging Het
Acvrl1 A G 15: 101,032,628 (GRCm39) probably null Het
Adgrv1 A T 13: 81,740,704 (GRCm39) N141K probably damaging Het
Aftph C T 11: 20,659,619 (GRCm39) probably null Het
Aifm1 C T X: 47,571,637 (GRCm39) G371S probably benign Het
Aldh3b2 A G 19: 4,029,433 (GRCm39) M269V probably benign Het
Ankrd44 T C 1: 54,802,877 (GRCm39) Y207C probably damaging Het
Arhgap15 G T 2: 44,212,767 (GRCm39) M412I probably damaging Het
Auts2 A C 5: 131,468,296 (GRCm39) L783R probably damaging Het
Baiap2l1 A T 5: 144,215,363 (GRCm39) Y381N probably damaging Het
Baiap3 T C 17: 25,469,243 (GRCm39) D180G probably damaging Het
Cant1 T C 11: 118,302,038 (GRCm39) Y93C probably damaging Het
Catsperg2 T C 7: 29,416,423 (GRCm39) S330G probably benign Het
Ccdc73 A T 2: 104,848,111 (GRCm39) probably benign Het
Cdc5l A T 17: 45,703,967 (GRCm39) F752L possibly damaging Het
Celsr2 G T 3: 108,320,689 (GRCm39) H708N possibly damaging Het
Cep170 T A 1: 176,596,896 (GRCm39) K487M possibly damaging Het
Cerkl A T 2: 79,163,867 (GRCm39) N66K probably damaging Het
Cilk1 G A 9: 78,047,303 (GRCm39) V68I probably benign Het
Clec11a C T 7: 43,954,150 (GRCm39) A268T probably damaging Het
Ctnna2 C A 6: 77,091,912 (GRCm39) probably null Het
Diaph3 C A 14: 87,222,236 (GRCm39) R416L probably damaging Het
Dnmbp T A 19: 43,838,315 (GRCm39) N1170I probably damaging Het
Erbb2 G T 11: 98,318,279 (GRCm39) C505F probably damaging Het
Ercc6 T A 14: 32,289,479 (GRCm39) F904L probably damaging Het
Exo5 C T 4: 120,779,514 (GRCm39) G117D probably damaging Het
F2 CAGAAAG CAG 2: 91,465,302 (GRCm39) probably benign Het
Fbxl5 A G 5: 43,930,896 (GRCm39) Y64H probably damaging Het
Gabra4 T A 5: 71,798,207 (GRCm39) M207L probably damaging Het
Galnt15 T C 14: 31,771,786 (GRCm39) L277P probably damaging Het
Gclm T C 3: 122,049,261 (GRCm39) probably null Het
Gm5493 T A 17: 22,966,201 (GRCm39) C29S possibly damaging Het
Grik3 A G 4: 125,564,382 (GRCm39) T455A probably benign Het
Grm3 A G 5: 9,639,766 (GRCm39) V93A probably benign Het
Hdgfl2 C T 17: 56,406,217 (GRCm39) A535V possibly damaging Het
Hfm1 A T 5: 107,049,597 (GRCm39) S455T probably damaging Het
Hmcn1 T A 1: 150,613,007 (GRCm39) D1424V probably benign Het
Hsd3b6 C T 3: 98,715,120 (GRCm39) V91I probably benign Het
Igdcc4 G A 9: 65,030,039 (GRCm39) S363N possibly damaging Het
Intu T C 3: 40,647,347 (GRCm39) V740A probably benign Het
Itga2 C T 13: 114,992,717 (GRCm39) V838I probably benign Het
Kif9 A G 9: 110,318,965 (GRCm39) E143G probably damaging Het
Kmt2c T A 5: 25,614,205 (GRCm39) I172F probably benign Het
Kmt2d G A 15: 98,754,043 (GRCm39) R21W probably damaging Het
Mdh1b A T 1: 63,750,620 (GRCm39) D449E probably benign Het
Meis1 T C 11: 18,831,785 (GRCm39) I418V probably benign Het
Nags T A 11: 102,037,395 (GRCm39) M162K probably damaging Het
Nufip1 A G 14: 76,348,413 (GRCm39) D14G probably benign Het
Or2l13 T A 16: 19,306,227 (GRCm39) I213N probably damaging Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or7g28 T G 9: 19,272,274 (GRCm39) I126L probably damaging Het
Osmr A C 15: 6,850,560 (GRCm39) V681G probably damaging Het
Paxip1 G T 5: 27,971,282 (GRCm39) Q356K unknown Het
Pcdhac1 T A 18: 37,223,595 (GRCm39) F136Y probably damaging Het
Pla2g6 A G 15: 79,171,328 (GRCm39) V699A probably benign Het
Plcb3 A T 19: 6,943,578 (GRCm39) V107E probably damaging Het
Plch1 T A 3: 63,681,136 (GRCm39) I164F probably damaging Het
Plpp3 A T 4: 105,052,077 (GRCm39) I73F probably damaging Het
Plscr5 G A 9: 92,080,574 (GRCm39) R20Q probably benign Het
Prdm10 G A 9: 31,252,779 (GRCm39) R504Q probably damaging Het
Prss58 T C 6: 40,874,751 (GRCm39) Y30C probably damaging Het
Psg19 T A 7: 18,530,894 (GRCm39) T87S probably benign Het
Ptpn22 T G 3: 103,789,418 (GRCm39) M294R probably benign Het
Rai1 T A 11: 60,079,482 (GRCm39) M1182K probably benign Het
Sez6 T A 11: 77,867,388 (GRCm39) V795D possibly damaging Het
Shcbp1 A G 8: 4,789,214 (GRCm39) V535A possibly damaging Het
Skint9 A G 4: 112,246,447 (GRCm39) Y222H probably benign Het
Slc13a3 T A 2: 165,253,816 (GRCm39) I446F probably damaging Het
Slc2a3 C T 6: 122,714,196 (GRCm39) R57H probably damaging Het
Slc44a4 A G 17: 35,140,219 (GRCm39) D208G probably benign Het
Spata31d1b A T 13: 59,863,838 (GRCm39) N329Y possibly damaging Het
Strbp C T 2: 37,517,499 (GRCm39) R192K probably damaging Het
Tctn3 A T 19: 40,600,548 (GRCm39) L14Q probably damaging Het
Tenm2 T A 11: 36,834,989 (GRCm39) D2V probably damaging Het
Tln2 T G 9: 67,241,596 (GRCm39) K1003T probably benign Het
Tmem63b T C 17: 45,971,800 (GRCm39) E805G probably damaging Het
Trhr A T 15: 44,060,980 (GRCm39) N167Y probably damaging Het
Trpc2 A G 7: 101,744,390 (GRCm39) R721G probably benign Het
Ttn C A 2: 76,701,267 (GRCm39) probably benign Het
Wdr91 A G 6: 34,869,288 (GRCm39) I412T probably damaging Het
Zcchc4 T A 5: 52,953,952 (GRCm39) S211T probably benign Het
Other mutations in 4833420G17Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:4833420G17Rik APN 13 119,603,494 (GRCm39) critical splice donor site probably null
IGL01555:4833420G17Rik APN 13 119,610,443 (GRCm39) missense probably benign 0.10
IGL02395:4833420G17Rik APN 13 119,617,496 (GRCm39) missense probably damaging 1.00
IGL02725:4833420G17Rik APN 13 119,611,445 (GRCm39) missense possibly damaging 0.95
IGL02904:4833420G17Rik APN 13 119,620,990 (GRCm39) missense probably damaging 1.00
IGL03126:4833420G17Rik APN 13 119,617,563 (GRCm39) missense probably benign 0.23
R0410:4833420G17Rik UTSW 13 119,606,268 (GRCm39) missense probably benign
R0437:4833420G17Rik UTSW 13 119,606,631 (GRCm39) missense probably benign 0.35
R0513:4833420G17Rik UTSW 13 119,606,195 (GRCm39) missense probably benign 0.13
R0569:4833420G17Rik UTSW 13 119,621,016 (GRCm39) missense possibly damaging 0.94
R0788:4833420G17Rik UTSW 13 119,610,468 (GRCm39) nonsense probably null
R1495:4833420G17Rik UTSW 13 119,614,356 (GRCm39) missense probably benign 0.17
R1617:4833420G17Rik UTSW 13 119,603,473 (GRCm39) missense probably damaging 1.00
R1905:4833420G17Rik UTSW 13 119,606,216 (GRCm39) missense possibly damaging 0.92
R1914:4833420G17Rik UTSW 13 119,622,386 (GRCm39) missense possibly damaging 0.90
R2169:4833420G17Rik UTSW 13 119,622,349 (GRCm39) missense probably benign 0.09
R4238:4833420G17Rik UTSW 13 119,603,478 (GRCm39) missense probably benign 0.00
R4240:4833420G17Rik UTSW 13 119,603,478 (GRCm39) missense probably benign 0.00
R4295:4833420G17Rik UTSW 13 119,606,249 (GRCm39) missense probably benign 0.02
R4469:4833420G17Rik UTSW 13 119,606,345 (GRCm39) missense probably damaging 1.00
R4643:4833420G17Rik UTSW 13 119,611,396 (GRCm39) missense probably damaging 0.97
R4964:4833420G17Rik UTSW 13 119,610,757 (GRCm39) intron probably benign
R4966:4833420G17Rik UTSW 13 119,610,757 (GRCm39) intron probably benign
R5384:4833420G17Rik UTSW 13 119,606,496 (GRCm39) missense probably benign 0.01
R6255:4833420G17Rik UTSW 13 119,602,659 (GRCm39) missense possibly damaging 0.95
R6491:4833420G17Rik UTSW 13 119,612,508 (GRCm39) missense probably damaging 1.00
R6564:4833420G17Rik UTSW 13 119,622,613 (GRCm39) splice site probably null
R7023:4833420G17Rik UTSW 13 119,610,443 (GRCm39) missense probably benign 0.10
R7574:4833420G17Rik UTSW 13 119,606,478 (GRCm39) missense probably damaging 0.99
R9218:4833420G17Rik UTSW 13 119,610,460 (GRCm39) missense probably damaging 0.96
R9508:4833420G17Rik UTSW 13 119,617,484 (GRCm39) missense
R9521:4833420G17Rik UTSW 13 119,608,778 (GRCm39) critical splice donor site probably null
R9567:4833420G17Rik UTSW 13 119,602,793 (GRCm39) missense probably damaging 1.00
R9759:4833420G17Rik UTSW 13 119,615,989 (GRCm39) missense probably damaging 1.00
Z1176:4833420G17Rik UTSW 13 119,614,344 (GRCm39) missense not run
Z1177:4833420G17Rik UTSW 13 119,614,344 (GRCm39) missense not run
Predicted Primers PCR Primer
(F):5'- CTGGAGACGGATCGGTTTTC -3'
(R):5'- GCTCTTATCTCCCAGTAAGGAC -3'

Sequencing Primer
(F):5'- TTTCAAGTCAGAAGGGGCTC -3'
(R):5'- ATGGCAACTCCTGTCTAAATGGC -3'
Posted On 2016-06-06