Incidental Mutation 'R6122:1700034J05Rik'
ID 485762
Institutional Source Beutler Lab
Gene Symbol 1700034J05Rik
Ensembl Gene ENSMUSG00000040163
Gene Name RIKEN cDNA 1700034J05 gene
Synonyms
MMRRC Submission 044269-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6122 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 146852799-146855937 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 146853750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 301 (*301W)
Ref Sequence ENSEMBL: ENSMUSP00000107249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016631] [ENSMUST00000036592] [ENSMUST00000111622] [ENSMUST00000111623] [ENSMUST00000203730]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000016631
SMART Domains Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
PDB:3QH9|A 180 256 3e-8 PDB
low complexity region 345 358 N/A INTRINSIC
low complexity region 426 441 N/A INTRINSIC
low complexity region 530 546 N/A INTRINSIC
SAM 603 670 3.06e-13 SMART
SAM 675 741 2.39e-15 SMART
SAM 763 835 7.91e-7 SMART
Predicted Effect probably null
Transcript: ENSMUST00000036592
AA Change: *302W
SMART Domains Protein: ENSMUSP00000043802
Gene: ENSMUSG00000040163
AA Change: *302W

DomainStartEndE-ValueType
Pfam:DUF4640 18 301 2.7e-128 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111622
AA Change: *301W
SMART Domains Protein: ENSMUSP00000107249
Gene: ENSMUSG00000040163
AA Change: *301W

DomainStartEndE-ValueType
Pfam:DUF4640 18 300 1.3e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111623
SMART Domains Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
PDB:3QH9|A 180 256 3e-8 PDB
low complexity region 272 284 N/A INTRINSIC
low complexity region 356 369 N/A INTRINSIC
low complexity region 437 452 N/A INTRINSIC
low complexity region 541 557 N/A INTRINSIC
SAM 614 681 3.06e-13 SMART
SAM 686 752 2.39e-15 SMART
SAM 774 846 7.91e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203730
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.8%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A G 16: 8,423,414 (GRCm39) I236V probably benign Het
Abca8a T C 11: 109,961,249 (GRCm39) T558A probably benign Het
Ace3 A C 11: 105,885,764 (GRCm39) M57L probably benign Het
Adgrg1 T C 8: 95,729,129 (GRCm39) S18P probably benign Het
Ahi1 A G 10: 20,934,064 (GRCm39) D60G probably benign Het
Ap4e1 T A 2: 126,870,080 (GRCm39) probably null Het
Arnt2 C A 7: 84,010,773 (GRCm39) K34N probably damaging Het
Ascc3 T A 10: 50,494,021 (GRCm39) M152K probably benign Het
AW551984 A T 9: 39,505,051 (GRCm39) F480L probably benign Het
Blvrb G A 7: 27,158,773 (GRCm39) A58T possibly damaging Het
Bpifa1 C T 2: 153,985,892 (GRCm39) T69I probably benign Het
Cacna1g T A 11: 94,320,997 (GRCm39) M1366L probably benign Het
Ccdc82 A G 9: 13,266,880 (GRCm39) I361V probably benign Het
Clca4b T A 3: 144,631,927 (GRCm39) I193F possibly damaging Het
Crb1 A T 1: 139,176,686 (GRCm39) Y371* probably null Het
Cul9 T C 17: 46,832,854 (GRCm39) D1363G possibly damaging Het
Cyp2j8 C T 4: 96,332,877 (GRCm39) A490T probably benign Het
D430041D05Rik A T 2: 104,086,637 (GRCm39) S780T probably benign Het
Fzd5 G T 1: 64,774,815 (GRCm39) C315* probably null Het
Gabrr1 T C 4: 33,161,695 (GRCm39) S340P probably damaging Het
Galnt7 T C 8: 57,979,200 (GRCm39) D641G probably damaging Het
Gm7133 A G 1: 97,110,948 (GRCm39) noncoding transcript Het
Heatr5b A G 17: 79,120,602 (GRCm39) L774P possibly damaging Het
Itch T A 2: 155,015,985 (GRCm39) S157T probably benign Het
Itgam A C 7: 127,684,824 (GRCm39) D398A probably damaging Het
Kalrn G T 16: 33,805,561 (GRCm39) L2659M possibly damaging Het
Kcnj14 C A 7: 45,468,875 (GRCm39) R210L possibly damaging Het
Kmt2d T C 15: 98,758,573 (GRCm39) probably benign Het
Krt1c G C 15: 101,724,349 (GRCm39) T305S probably damaging Het
Mcm3ap A G 10: 76,342,441 (GRCm39) N1645D probably damaging Het
Naf1 T A 8: 67,336,096 (GRCm39) I341K probably damaging Het
Nbea G T 3: 55,937,317 (GRCm39) H765N probably damaging Het
Ncapd3 A G 9: 26,975,278 (GRCm39) I776V probably benign Het
Neo1 A T 9: 58,824,291 (GRCm39) D712E probably benign Het
Neu1 G A 17: 35,153,730 (GRCm39) V385I probably benign Het
Or14j3 C A 17: 37,900,817 (GRCm39) R142S probably benign Het
Or51a6 C A 7: 102,604,011 (GRCm39) G273C probably damaging Het
Or51a6 A G 7: 102,604,737 (GRCm39) Y24H probably benign Het
Pgghg A C 7: 140,523,308 (GRCm39) T196P possibly damaging Het
Pira2 A T 7: 3,845,445 (GRCm39) V313E probably damaging Het
Pkd1l2 T C 8: 117,809,107 (GRCm39) R28G probably benign Het
Pkhd1l1 T C 15: 44,421,336 (GRCm39) S3035P probably damaging Het
Ppp1r9a T A 6: 4,905,509 (GRCm39) N21K probably damaging Het
Prune1 T C 3: 95,169,554 (GRCm39) D216G probably benign Het
Ptpn23 G T 9: 110,216,893 (GRCm39) probably benign Het
Ranbp2 T A 10: 58,301,351 (GRCm39) M668K probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpsa G T 9: 119,960,102 (GRCm39) V222L probably benign Het
Septin2 A G 1: 93,425,098 (GRCm39) T45A probably damaging Het
Slc12a8 A T 16: 33,445,384 (GRCm39) D260V probably damaging Het
Srrm2 G T 17: 24,039,330 (GRCm39) M2087I possibly damaging Het
Tg T C 15: 66,700,306 (GRCm39) L88P probably damaging Het
Tns1 A G 1: 73,991,578 (GRCm39) probably null Het
Topbp1 A T 9: 103,224,160 (GRCm39) D1429V probably benign Het
Tprg1 A G 16: 25,241,151 (GRCm39) probably null Het
Trit1 T C 4: 122,933,261 (GRCm39) I66T possibly damaging Het
Usf3 A T 16: 44,037,670 (GRCm39) I717L probably damaging Het
Other mutations in 1700034J05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01654:1700034J05Rik APN 6 146,854,838 (GRCm39) missense probably damaging 1.00
IGL01725:1700034J05Rik APN 6 146,853,767 (GRCm39) missense probably damaging 0.97
IGL01860:1700034J05Rik APN 6 146,853,914 (GRCm39) missense possibly damaging 0.77
IGL01991:1700034J05Rik APN 6 146,854,608 (GRCm39) missense probably benign 0.32
IGL02375:1700034J05Rik APN 6 146,854,813 (GRCm39) missense possibly damaging 0.92
R0254:1700034J05Rik UTSW 6 146,853,902 (GRCm39) missense probably benign 0.00
R0361:1700034J05Rik UTSW 6 146,853,869 (GRCm39) missense possibly damaging 0.94
R0835:1700034J05Rik UTSW 6 146,855,036 (GRCm39) intron probably benign
R1101:1700034J05Rik UTSW 6 146,853,909 (GRCm39) missense possibly damaging 0.95
R1428:1700034J05Rik UTSW 6 146,853,909 (GRCm39) missense possibly damaging 0.95
R1487:1700034J05Rik UTSW 6 146,854,877 (GRCm39) missense probably benign 0.16
R1887:1700034J05Rik UTSW 6 146,853,909 (GRCm39) missense possibly damaging 0.95
R1988:1700034J05Rik UTSW 6 146,854,394 (GRCm39) missense possibly damaging 0.70
R1989:1700034J05Rik UTSW 6 146,854,394 (GRCm39) missense possibly damaging 0.70
R4063:1700034J05Rik UTSW 6 146,854,606 (GRCm39) missense probably benign 0.32
R6578:1700034J05Rik UTSW 6 146,854,812 (GRCm39) nonsense probably null
R7029:1700034J05Rik UTSW 6 146,853,841 (GRCm39) missense probably benign 0.00
R7585:1700034J05Rik UTSW 6 146,854,851 (GRCm39) missense probably benign 0.00
R7842:1700034J05Rik UTSW 6 146,855,034 (GRCm39) missense unknown
R9272:1700034J05Rik UTSW 6 146,854,499 (GRCm39) missense probably damaging 1.00
R9444:1700034J05Rik UTSW 6 146,854,724 (GRCm39) missense probably damaging 1.00
X0066:1700034J05Rik UTSW 6 146,855,038 (GRCm39) start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- AGTGGCTTGTTCAGAAGGAATG -3'
(R):5'- CTGAGAGCTCCTTGGAAACCTC -3'

Sequencing Primer
(F):5'- TGTGAAGATTGGAAACTCCCACTG -3'
(R):5'- TGTCATCCCCTCAGCCAGAG -3'
Posted On 2017-08-16