Incidental Mutation 'R4956:3110009E18Rik'
ID 381556
Institutional Source Beutler Lab
Gene Symbol 3110009E18Rik
Ensembl Gene ENSMUSG00000026388
Gene Name RIKEN cDNA 3110009E18 gene
Synonyms
MMRRC Submission 042553-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4956 (G1)
Quality Score 127
Status Validated
Chromosome 1
Chromosomal Location 120048917-120115919 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to C at 120096840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027637] [ENSMUST00000056038] [ENSMUST00000112644]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027637
SMART Domains Protein: ENSMUSP00000027637
Gene: ENSMUSG00000026388

DomainStartEndE-ValueType
Pfam:DUF2340 8 93 3.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056038
SMART Domains Protein: ENSMUSP00000053335
Gene: ENSMUSG00000026388

DomainStartEndE-ValueType
Pfam:DUF2340 8 93 3.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112644
SMART Domains Protein: ENSMUSP00000108263
Gene: ENSMUSG00000026388

DomainStartEndE-ValueType
Pfam:DUF2340 8 126 1.4e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128578
Predicted Effect unknown
Transcript: ENSMUST00000153037
AA Change: E79Q
SMART Domains Protein: ENSMUSP00000115887
Gene: ENSMUSG00000026388
AA Change: E79Q

DomainStartEndE-ValueType
Pfam:DUF2340 1 61 1.6e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187809
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 96% (70/73)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,672,816 (GRCm39) K866E probably damaging Het
Afap1l2 T C 19: 56,931,879 (GRCm39) M49V probably benign Het
Atf7ip C T 6: 136,583,808 (GRCm39) R1280C probably damaging Het
Atp2a2 A G 5: 122,599,643 (GRCm39) F583L probably benign Het
Atxn7l3b A G 10: 112,764,501 (GRCm39) C43R probably damaging Het
Axin2 T C 11: 108,833,904 (GRCm39) V617A probably damaging Het
Bltp3a T A 17: 28,108,958 (GRCm39) probably null Het
Brd1 A T 15: 88,614,316 (GRCm39) F193Y probably damaging Het
Cdc27 T C 11: 104,420,221 (GRCm39) S141G probably damaging Het
Chst9 A T 18: 15,851,045 (GRCm39) F7Y probably damaging Het
Cpn2 T A 16: 30,079,233 (GRCm39) Q156L possibly damaging Het
Dcaf6 A T 1: 165,216,354 (GRCm39) D416E probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Eif2s3y A G Y: 1,023,407 (GRCm39) T430A possibly damaging Het
Enah G A 1: 181,745,854 (GRCm39) T401I probably damaging Het
Esp38 T G 17: 40,266,053 (GRCm39) I54R probably damaging Het
Ffar4 C T 19: 38,086,028 (GRCm39) R152W probably benign Het
Flvcr1 A G 1: 190,758,383 (GRCm39) probably benign Het
Fzd9 G A 5: 135,278,796 (GRCm39) A363V probably damaging Het
Gadl1 T A 9: 115,869,987 (GRCm39) I451N probably benign Het
Hmg20a A G 9: 56,388,948 (GRCm39) T172A probably damaging Het
Ints1 G A 5: 139,742,885 (GRCm39) T1695M probably damaging Het
Ipo13 G A 4: 117,758,768 (GRCm39) A699V probably benign Het
Ipo9 A G 1: 135,331,960 (GRCm39) probably null Het
Klra17 A G 6: 129,850,279 (GRCm39) L57P probably damaging Het
Map3k8 A C 18: 4,339,530 (GRCm39) D280E probably benign Het
Mycbp2 A G 14: 103,524,675 (GRCm39) F662L probably damaging Het
Ncor1 T A 11: 62,231,431 (GRCm39) H792L probably damaging Het
Nlrx1 T A 9: 44,173,909 (GRCm39) K431* probably null Het
Nos1 A G 5: 118,085,575 (GRCm39) N1301S probably benign Het
Obp2b A G 2: 25,627,087 (GRCm39) T7A probably damaging Het
Odc1 T C 12: 17,597,958 (GRCm39) I95T probably damaging Het
Or2t43 A G 11: 58,457,344 (GRCm39) Y276H probably damaging Het
Or4c127 G A 2: 89,833,187 (GRCm39) V146M probably benign Het
Or5b97 C T 19: 12,878,963 (GRCm39) M60I probably damaging Het
Or6ae1 A G 7: 139,741,993 (GRCm39) I290T possibly damaging Het
Or6c1 A T 10: 129,517,968 (GRCm39) F213L probably benign Het
Pcif1 A T 2: 164,731,610 (GRCm39) Q521L probably damaging Het
Plekhg2 A C 7: 28,067,780 (GRCm39) L223R probably damaging Het
Plod3 A G 5: 137,018,772 (GRCm39) N270D probably damaging Het
Ppp1r37 A T 7: 19,266,636 (GRCm39) L417* probably null Het
Psmd6 C T 14: 14,116,166 (GRCm38) V141I probably benign Het
Rcn1 A T 2: 105,225,121 (GRCm39) Y111* probably null Het
Rell2 G A 18: 38,090,758 (GRCm39) R145H probably damaging Het
Scaper T C 9: 55,745,426 (GRCm39) K614R probably damaging Het
Scart2 A G 7: 139,878,275 (GRCm39) I1001V probably benign Het
Shbg C T 11: 69,508,045 (GRCm39) E107K probably damaging Het
Slc30a3 G A 5: 31,244,247 (GRCm39) P345L possibly damaging Het
Tchp A C 5: 114,857,681 (GRCm39) E391D probably damaging Het
Timeless A G 10: 128,077,520 (GRCm39) D200G probably damaging Het
Tspear A G 10: 77,700,601 (GRCm39) T144A possibly damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vgll3 T C 16: 65,624,820 (GRCm39) V56A possibly damaging Het
Vmn2r71 C T 7: 85,268,436 (GRCm39) T213I probably benign Het
Wtap T C 17: 13,186,423 (GRCm39) T375A probably benign Het
Yipf2 T G 9: 21,503,204 (GRCm39) T88P probably damaging Het
Zfp382 T A 7: 29,830,979 (GRCm39) D89E probably benign Het
Zfp955b C T 17: 33,524,209 (GRCm39) probably benign Het
Zpr1 C T 9: 46,185,961 (GRCm39) T144I probably damaging Het
Other mutations in 3110009E18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00690:3110009E18Rik APN 1 120,078,336 (GRCm39) unclassified probably benign
IGL00696:3110009E18Rik APN 1 120,099,156 (GRCm39) missense probably damaging 0.98
IGL01482:3110009E18Rik APN 1 120,099,201 (GRCm39) missense probably benign 0.16
IGL01996:3110009E18Rik APN 1 120,078,430 (GRCm39) missense possibly damaging 0.94
R0033:3110009E18Rik UTSW 1 120,115,794 (GRCm39) missense probably damaging 1.00
R0270:3110009E18Rik UTSW 1 120,093,906 (GRCm39) splice site probably benign
R1025:3110009E18Rik UTSW 1 120,099,192 (GRCm39) missense probably damaging 0.97
R1535:3110009E18Rik UTSW 1 120,099,203 (GRCm39) missense possibly damaging 0.52
R4676:3110009E18Rik UTSW 1 120,078,382 (GRCm39) missense probably damaging 1.00
R4955:3110009E18Rik UTSW 1 120,096,850 (GRCm39) intron probably benign
R4955:3110009E18Rik UTSW 1 120,096,849 (GRCm39) intron probably benign
R4955:3110009E18Rik UTSW 1 120,096,840 (GRCm39) intron probably benign
R4956:3110009E18Rik UTSW 1 120,096,850 (GRCm39) intron probably benign
R4956:3110009E18Rik UTSW 1 120,096,849 (GRCm39) intron probably benign
R4957:3110009E18Rik UTSW 1 120,096,850 (GRCm39) intron probably benign
R4957:3110009E18Rik UTSW 1 120,096,849 (GRCm39) intron probably benign
R4957:3110009E18Rik UTSW 1 120,096,840 (GRCm39) intron probably benign
R5866:3110009E18Rik UTSW 1 120,096,814 (GRCm39) intron probably benign
R6151:3110009E18Rik UTSW 1 120,099,216 (GRCm39) splice site probably null
R6229:3110009E18Rik UTSW 1 120,099,213 (GRCm39) critical splice donor site probably null
R8187:3110009E18Rik UTSW 1 120,115,913 (GRCm39) makesense probably null
R8498:3110009E18Rik UTSW 1 120,096,872 (GRCm39) splice site probably null
R9049:3110009E18Rik UTSW 1 120,115,900 (GRCm39) missense probably null
R9075:3110009E18Rik UTSW 1 120,097,014 (GRCm39) missense
R9211:3110009E18Rik UTSW 1 120,099,161 (GRCm39) missense possibly damaging 0.74
R9492:3110009E18Rik UTSW 1 120,078,472 (GRCm39) missense probably damaging 0.99
R9564:3110009E18Rik UTSW 1 120,097,006 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CTCCAAATGGTAGGGAAGGC -3'
(R):5'- CTGCTGTGCAAACAGAAACTG -3'

Sequencing Primer
(F):5'- AAGGCAAGGGATGGTTCTG -3'
(R):5'- GAAGGTGCCTATGACTTCAGTACC -3'
Posted On 2016-04-27