Incidental Mutation 'R3982:4921504E06Rik'
ID 345293
Institutional Source Beutler Lab
Gene Symbol 4921504E06Rik
Ensembl Gene ENSMUSG00000026734
Gene Name RIKEN cDNA 4921504E06 gene
Synonyms
MMRRC Submission 041608-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R3982 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 19467648-19558721 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 19547180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000058720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062060]
AlphaFold Q8CET2
Predicted Effect probably null
Transcript: ENSMUST00000062060
SMART Domains Protein: ENSMUSP00000058720
Gene: ENSMUSG00000026734

DomainStartEndE-ValueType
low complexity region 2 10 N/A INTRINSIC
Pfam:DUF4709 36 145 1e-45 PFAM
coiled coil region 165 257 N/A INTRINSIC
low complexity region 366 386 N/A INTRINSIC
coiled coil region 417 463 N/A INTRINSIC
Pfam:DUF4724 477 559 3.9e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131199
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T C 10: 14,324,589 (GRCm39) N445S probably benign Het
Adgrl3 A G 5: 81,842,373 (GRCm39) T902A possibly damaging Het
Atf4 T C 15: 80,141,069 (GRCm39) V153A probably benign Het
Bsn T C 9: 107,984,365 (GRCm39) T3230A unknown Het
Cadps2 A G 6: 23,263,530 (GRCm39) probably benign Het
Clca3a1 T A 3: 144,461,070 (GRCm39) T194S probably benign Het
Cth A T 3: 157,619,334 (GRCm39) L163* probably null Het
Flnc G A 6: 29,442,940 (GRCm39) V492M probably damaging Het
Frmd6 T C 12: 70,934,608 (GRCm39) L269P probably damaging Het
Gpr62 G A 9: 106,342,085 (GRCm39) A281V probably benign Het
Hapln1 T A 13: 89,753,560 (GRCm39) F242Y probably benign Het
Ighv1-39 A T 12: 114,878,251 (GRCm39) S107T possibly damaging Het
Itga8 A G 2: 12,305,774 (GRCm39) V72A possibly damaging Het
Kcp A T 6: 29,484,636 (GRCm39) L1314Q probably damaging Het
Klre1 T A 6: 129,560,101 (GRCm39) C124* probably null Het
Lrrk2 T A 15: 91,593,487 (GRCm39) M482K probably benign Het
Man2b2 T C 5: 36,971,164 (GRCm39) N734S probably benign Het
Map3k20 C T 2: 72,268,571 (GRCm39) T526I probably damaging Het
Mdga1 C A 17: 30,150,238 (GRCm39) A125S unknown Het
Mmd2 T C 5: 142,550,554 (GRCm39) Y228C probably damaging Het
Mme T A 3: 63,235,485 (GRCm39) Y178N probably damaging Het
Nifk T A 1: 118,257,282 (GRCm39) S138R possibly damaging Het
Nlrp4b T C 7: 10,448,358 (GRCm39) V187A possibly damaging Het
Palmd T C 3: 116,717,472 (GRCm39) T342A probably benign Het
Pigo A T 4: 43,023,482 (GRCm39) S231T probably benign Het
Pik3cb G A 9: 98,928,654 (GRCm39) T867M probably benign Het
Plag1 A T 4: 3,904,055 (GRCm39) S379T probably damaging Het
Polg2 G A 11: 106,670,028 (GRCm39) R81* probably null Het
Prpf4b C T 13: 35,068,196 (GRCm39) probably benign Het
Ptprq T A 10: 107,379,257 (GRCm39) I1981F probably damaging Het
Thoc2l T C 5: 104,668,889 (GRCm39) V1137A probably benign Het
Usp24 G A 4: 106,245,080 (GRCm39) E1307K probably benign Het
Vmn2r115 T A 17: 23,578,948 (GRCm39) M807K probably damaging Het
Wee2 A T 6: 40,432,175 (GRCm39) N248I possibly damaging Het
Other mutations in 4921504E06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00776:4921504E06Rik APN 2 19,545,182 (GRCm39) missense probably benign 0.06
IGL01590:4921504E06Rik APN 2 19,482,590 (GRCm39) splice site probably benign
IGL02264:4921504E06Rik APN 2 19,547,180 (GRCm39) splice site probably null
IGL02591:4921504E06Rik APN 2 19,485,249 (GRCm39) missense probably benign 0.26
H8786:4921504E06Rik UTSW 2 19,498,905 (GRCm39) missense probably benign 0.04
R0545:4921504E06Rik UTSW 2 19,547,187 (GRCm39) missense probably damaging 1.00
R0762:4921504E06Rik UTSW 2 19,482,667 (GRCm39) missense probably damaging 0.97
R1325:4921504E06Rik UTSW 2 19,499,938 (GRCm39) missense possibly damaging 0.71
R1456:4921504E06Rik UTSW 2 19,485,731 (GRCm39) critical splice donor site probably null
R2013:4921504E06Rik UTSW 2 19,545,124 (GRCm39) missense probably benign 0.01
R2089:4921504E06Rik UTSW 2 19,522,357 (GRCm39) missense probably damaging 1.00
R2091:4921504E06Rik UTSW 2 19,522,357 (GRCm39) missense probably damaging 1.00
R2091:4921504E06Rik UTSW 2 19,522,357 (GRCm39) missense probably damaging 1.00
R3922:4921504E06Rik UTSW 2 19,485,371 (GRCm39) missense probably benign 0.00
R3983:4921504E06Rik UTSW 2 19,547,180 (GRCm39) splice site probably null
R4074:4921504E06Rik UTSW 2 19,485,401 (GRCm39) missense probably damaging 0.96
R4995:4921504E06Rik UTSW 2 19,498,995 (GRCm39) nonsense probably null
R5303:4921504E06Rik UTSW 2 19,521,110 (GRCm39) missense possibly damaging 0.92
R5308:4921504E06Rik UTSW 2 19,528,892 (GRCm39) missense probably damaging 1.00
R6227:4921504E06Rik UTSW 2 19,558,581 (GRCm39) splice site probably null
R6253:4921504E06Rik UTSW 2 19,528,929 (GRCm39) missense possibly damaging 0.53
R6268:4921504E06Rik UTSW 2 19,545,219 (GRCm39) missense probably benign 0.10
R6496:4921504E06Rik UTSW 2 19,545,217 (GRCm39) missense probably benign 0.17
R7196:4921504E06Rik UTSW 2 19,498,806 (GRCm39) missense probably benign 0.00
R7472:4921504E06Rik UTSW 2 19,545,219 (GRCm39) missense probably benign 0.10
R8146:4921504E06Rik UTSW 2 19,498,814 (GRCm39) missense possibly damaging 0.83
R8150:4921504E06Rik UTSW 2 19,538,635 (GRCm39) missense probably benign 0.10
R8534:4921504E06Rik UTSW 2 19,545,153 (GRCm39) missense probably damaging 1.00
R9067:4921504E06Rik UTSW 2 19,522,493 (GRCm39) missense probably damaging 0.98
Z1177:4921504E06Rik UTSW 2 19,485,343 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- CCCCAAAGACCTTCATGTTTTG -3'
(R):5'- TACCTCCAAATATGATTGCTTGCC -3'

Sequencing Primer
(F):5'- CCAAAGACCTTCATGTTTTGAAACTG -3'
(R):5'- CCAAATATGATTGCTTGCCTTTTTC -3'
Posted On 2015-09-25