Incidental Mutation 'R6870:1700088E04Rik'
ID 536166
Institutional Source Beutler Lab
Gene Symbol 1700088E04Rik
Ensembl Gene ENSMUSG00000033029
Gene Name RIKEN cDNA 1700088E04 gene
Synonyms Mus EST J0827E04
MMRRC Submission 044967-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6870 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 79018855-79025451 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79020608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 62 (Y62C)
Ref Sequence ENSEMBL: ENSMUSP00000140611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040077] [ENSMUST00000040320] [ENSMUST00000169604] [ENSMUST00000186053] [ENSMUST00000186459] [ENSMUST00000187550] [ENSMUST00000188562] [ENSMUST00000189761] [ENSMUST00000190509] [ENSMUST00000190730] [ENSMUST00000190959] [ENSMUST00000229031] [ENSMUST00000229973] [ENSMUST00000230271]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040077
SMART Domains Protein: ENSMUSP00000043566
Gene: ENSMUSG00000033020

DomainStartEndE-ValueType
low complexity region 3 37 N/A INTRINSIC
Pfam:RNA_pol_Rpb6 51 104 2.7e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040320
SMART Domains Protein: ENSMUSP00000042053
Gene: ENSMUSG00000033039

DomainStartEndE-ValueType
CH 4 103 5.64e-19 SMART
low complexity region 113 135 N/A INTRINSIC
LIM 164 219 1.15e-5 SMART
low complexity region 241 250 N/A INTRINSIC
low complexity region 375 394 N/A INTRINSIC
low complexity region 414 467 N/A INTRINSIC
low complexity region 477 497 N/A INTRINSIC
low complexity region 515 530 N/A INTRINSIC
low complexity region 571 586 N/A INTRINSIC
DUF3585 685 825 5.07e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169604
AA Change: Y83C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000129244
Gene: ENSMUSG00000033029
AA Change: Y83C

DomainStartEndE-ValueType
Pfam:UPF0193 4 213 3.2e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186053
SMART Domains Protein: ENSMUSP00000140261
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 58 3.5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186459
SMART Domains Protein: ENSMUSP00000139974
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 54 5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187550
SMART Domains Protein: ENSMUSP00000140978
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 57 2.1e-22 PFAM
Pfam:UPF0193 54 155 8.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188562
Predicted Effect probably benign
Transcript: ENSMUST00000189761
SMART Domains Protein: ENSMUSP00000139736
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 39 4.9e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190400
Predicted Effect probably benign
Transcript: ENSMUST00000190509
AA Change: Y62C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000140611
Gene: ENSMUSG00000033029
AA Change: Y62C

DomainStartEndE-ValueType
Pfam:UPF0193 33 195 4.4e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190730
SMART Domains Protein: ENSMUSP00000139884
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 57 2.1e-22 PFAM
Pfam:UPF0193 54 155 8.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190959
AA Change: Y83C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000140347
Gene: ENSMUSG00000033029
AA Change: Y83C

DomainStartEndE-ValueType
Pfam:UPF0193 1 216 1.5e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191006
Predicted Effect probably benign
Transcript: ENSMUST00000229031
Predicted Effect probably benign
Transcript: ENSMUST00000229973
Predicted Effect probably benign
Transcript: ENSMUST00000230271
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 72% (39/54)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T C 15: 60,791,564 (GRCm39) T291A probably damaging Het
Abcb11 A G 2: 69,115,642 (GRCm39) I574T possibly damaging Het
Abcb5 T A 12: 118,929,000 (GRCm39) Y17F possibly damaging Het
Arfgef3 A T 10: 18,522,478 (GRCm39) L516* probably null Het
Arhgap21 A G 2: 20,885,321 (GRCm39) S619P probably damaging Het
Atp2c1 A G 9: 105,347,261 (GRCm39) V65A probably benign Het
Calm3 T A 7: 16,653,568 (GRCm39) Q9L probably benign Het
Cd300c2 C T 11: 114,891,503 (GRCm39) D124N probably damaging Het
Celsr3 A G 9: 108,706,390 (GRCm39) T958A probably benign Het
Cemip2 T C 19: 21,809,487 (GRCm39) S956P possibly damaging Het
Cfap69 T C 5: 5,671,958 (GRCm39) T317A probably benign Het
Cluh T A 11: 74,556,210 (GRCm39) I887K probably damaging Het
Dag1 A T 9: 108,086,457 (GRCm39) V228E probably damaging Het
Dhtkd1 T C 2: 5,924,248 (GRCm39) probably null Het
Dnah1 T A 14: 30,993,018 (GRCm39) K2959* probably null Het
Dnttip2 T A 3: 122,069,457 (GRCm39) V224E probably damaging Het
Drosha C T 15: 12,907,479 (GRCm39) P1071L probably benign Het
E030025P04Rik T A 11: 109,030,993 (GRCm39) H84L unknown Het
Elac2 A T 11: 64,890,589 (GRCm39) S698C probably null Het
Elf2 A T 3: 51,201,586 (GRCm39) *88R probably null Het
Fastkd1 T A 2: 69,538,958 (GRCm39) I143L probably benign Het
Fbxw10 C T 11: 62,746,193 (GRCm39) R366C probably damaging Het
Frg2f1 T C 4: 119,388,329 (GRCm39) M57V probably benign Het
Gbp4 T C 5: 105,273,444 (GRCm39) S129G probably damaging Het
Gnat2 A C 3: 108,002,947 (GRCm39) probably benign Het
Golgb1 C A 16: 36,738,565 (GRCm39) F2301L probably damaging Het
Il18bp T C 7: 101,666,518 (GRCm39) T2A possibly damaging Het
Kpna2 T C 11: 106,883,520 (GRCm39) probably null Het
Lrrfip2 A T 9: 111,045,187 (GRCm39) probably benign Het
Map4k1 T G 7: 28,701,096 (GRCm39) probably null Het
Mcm3ap T C 10: 76,306,049 (GRCm39) V54A probably benign Het
Nup133 A G 8: 124,626,246 (GRCm39) I1112T probably benign Het
Or8b1 A C 9: 38,399,382 (GRCm39) D19A probably benign Het
Pcdhac1 T A 18: 37,225,140 (GRCm39) V651D probably damaging Het
Pde10a A G 17: 9,186,356 (GRCm39) T571A possibly damaging Het
Phc3 A G 3: 30,990,910 (GRCm39) S403P probably damaging Het
Prl7b1 T C 13: 27,788,516 (GRCm39) E113G probably damaging Het
Psmd2 T G 16: 20,480,593 (GRCm39) M744R probably benign Het
Qrich2 T C 11: 116,346,156 (GRCm39) D1556G probably damaging Het
Septin1 C T 7: 126,816,876 (GRCm39) V46M probably benign Het
Shank2 C A 7: 143,606,197 (GRCm39) Q127K probably damaging Het
Siah1a A G 8: 87,451,653 (GRCm39) V277A possibly damaging Het
Slc4a7 T A 14: 14,733,846 (GRCm38) D85E probably damaging Het
Slc5a12 A T 2: 110,472,155 (GRCm39) I526F probably damaging Het
Svil T C 18: 5,063,231 (GRCm39) V834A possibly damaging Het
Sycp1 T A 3: 102,842,919 (GRCm39) S17C probably damaging Het
Tssk6 G A 8: 70,355,673 (GRCm39) R239Q probably benign Het
Txnrd1 A G 10: 82,709,042 (GRCm39) D80G probably benign Het
Tyk2 A G 9: 21,036,250 (GRCm39) F79S probably damaging Het
Tyrp1 T C 4: 80,769,014 (GRCm39) S503P probably benign Het
Upf1 A T 8: 70,794,211 (GRCm39) C232S probably benign Het
Zeb2 G A 2: 44,878,922 (GRCm39) T1080I probably damaging Het
Other mutations in 1700088E04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01721:1700088E04Rik APN 15 79,023,453 (GRCm39) missense possibly damaging 0.88
R1127:1700088E04Rik UTSW 15 79,019,403 (GRCm39) missense probably benign 0.36
R2184:1700088E04Rik UTSW 15 79,019,389 (GRCm39) missense probably damaging 1.00
R4832:1700088E04Rik UTSW 15 79,019,409 (GRCm39) missense probably damaging 1.00
R7798:1700088E04Rik UTSW 15 79,019,932 (GRCm39) missense probably damaging 0.97
R9495:1700088E04Rik UTSW 15 79,019,842 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GCTTGCTTGAATGATGCTGTCC -3'
(R):5'- TGTAAGAACCGAGTGTGCG -3'

Sequencing Primer
(F):5'- CTTGAATGATGCTGTCCCAGGC -3'
(R):5'- CACCCTTGGATATGTTCTAGAAGC -3'
Posted On 2018-10-18