Incidental Mutation 'R6849:D130040H23Rik'
ID 534912
Institutional Source Beutler Lab
Gene Symbol D130040H23Rik
Ensembl Gene ENSMUSG00000079038
Gene Name RIKEN cDNA D130040H23 gene
Synonyms
MMRRC Submission 044953-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R6849 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 69723732-69766859 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 69755303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 253 (Y253*)
Ref Sequence ENSEMBL: ENSMUSP00000148399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078257] [ENSMUST00000212549]
AlphaFold Q8BII3
Predicted Effect probably damaging
Transcript: ENSMUST00000078257
AA Change: I236N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077378
Gene: ENSMUSG00000079038
AA Change: I236N

DomainStartEndE-ValueType
internal_repeat_1 2 170 4.27e-17 PROSPERO
internal_repeat_1 199 366 4.27e-17 PROSPERO
Predicted Effect probably null
Transcript: ENSMUST00000212549
AA Change: Y253*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik G T 8: 125,366,261 (GRCm39) Q161K probably damaging Het
4930578I06Rik A T 14: 64,223,687 (GRCm39) W30R probably damaging Het
4930578I06Rik G T 14: 64,223,688 (GRCm39) N29K probably benign Het
Aldh6a1 A G 12: 84,490,561 (GRCm39) V18A probably benign Het
Apoa5 A G 9: 46,181,298 (GRCm39) K125E probably benign Het
Atosa A C 9: 74,916,594 (GRCm39) N398H probably damaging Het
Bphl T A 13: 34,234,252 (GRCm39) probably null Het
C2cd3 T A 7: 100,056,134 (GRCm39) V514E probably damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Cep192 A G 18: 67,945,506 (GRCm39) D202G probably benign Het
Chd5 A T 4: 152,462,995 (GRCm39) N1420Y probably damaging Het
Cnot10 A T 9: 114,461,004 (GRCm39) D55E probably benign Het
Cntn1 T A 15: 92,203,127 (GRCm39) I803N probably damaging Het
Col7a1 G T 9: 108,804,121 (GRCm39) V2217L unknown Het
Cpne9 T G 6: 113,279,079 (GRCm39) V491G probably damaging Het
Cracd C A 5: 77,004,857 (GRCm39) A406E unknown Het
Cracd C T 5: 77,005,004 (GRCm39) A455V unknown Het
Csnk2a1 C A 2: 152,092,484 (GRCm39) H18Q probably benign Het
Dnah14 A T 1: 181,636,510 (GRCm39) M4321L probably benign Het
Dnah5 A G 15: 28,278,770 (GRCm39) T1122A probably benign Het
Eif4g1 A G 16: 20,499,495 (GRCm39) I515V probably benign Het
Fbn1 T C 2: 125,163,611 (GRCm39) K2082E possibly damaging Het
Fstl1 A G 16: 37,641,521 (GRCm39) K99R probably benign Het
Gar1 T C 3: 129,623,038 (GRCm39) N117S probably damaging Het
Gm3238 A T 10: 77,606,744 (GRCm39) probably benign Het
Gm32742 C T 9: 51,050,014 (GRCm39) M1528I probably benign Het
H2-T3 T C 17: 36,500,697 (GRCm39) I49V probably benign Het
Hyou1 A G 9: 44,298,561 (GRCm39) I581V probably damaging Het
Itk T C 11: 46,222,762 (GRCm39) N563S probably damaging Het
Lingo1 A G 9: 56,526,900 (GRCm39) L563P probably damaging Het
Lipc A G 9: 70,726,129 (GRCm39) probably null Het
Map4k3 A C 17: 80,937,842 (GRCm39) probably null Het
Mctp2 C T 7: 71,861,466 (GRCm39) C393Y probably damaging Het
Mei1 T A 15: 81,964,146 (GRCm39) L229M possibly damaging Het
Or13g1 T C 7: 85,956,248 (GRCm39) I24M possibly damaging Het
Or9i2 G T 19: 13,816,203 (GRCm39) C111* probably null Het
Pcnx2 A G 8: 126,587,949 (GRCm39) V833A probably damaging Het
Pde8b T C 13: 95,184,307 (GRCm39) N388D possibly damaging Het
Pi4ka G A 16: 17,121,285 (GRCm39) A1197V possibly damaging Het
Psd A G 19: 46,306,185 (GRCm39) Y36H probably damaging Het
Scn8a T A 15: 100,853,468 (GRCm39) probably null Het
Shisa6 A G 11: 66,416,327 (GRCm39) V155A probably benign Het
Slc45a3 T A 1: 131,905,702 (GRCm39) C242S probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Tmc3 T A 7: 83,235,565 (GRCm39) I54K probably damaging Het
Tmprss11g T A 5: 86,644,491 (GRCm39) I118F probably benign Het
Ttn T A 2: 76,744,687 (GRCm39) D5454V possibly damaging Het
Ube2f A G 1: 91,181,935 (GRCm39) probably null Het
Ubr7 T C 12: 102,724,342 (GRCm39) S19P probably damaging Het
Vav3 T C 3: 109,428,782 (GRCm39) V371A probably damaging Het
Vmn2r28 A G 7: 5,483,806 (GRCm39) V798A probably damaging Het
Vmn2r95 T G 17: 18,664,181 (GRCm39) C467G probably damaging Het
Vmn2r95 G T 17: 18,664,182 (GRCm39) C467F probably damaging Het
Vps13b A G 15: 35,905,455 (GRCm39) D3325G probably damaging Het
Wnk2 T C 13: 49,220,834 (GRCm39) T1158A probably damaging Het
Zfp616 T A 11: 73,976,276 (GRCm39) N848K possibly damaging Het
Other mutations in D130040H23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:D130040H23Rik APN 8 69,753,422 (GRCm39) missense possibly damaging 0.59
R0164:D130040H23Rik UTSW 8 69,755,195 (GRCm39) missense possibly damaging 0.61
R0164:D130040H23Rik UTSW 8 69,755,195 (GRCm39) missense possibly damaging 0.61
R0269:D130040H23Rik UTSW 8 69,753,446 (GRCm39) missense probably benign 0.00
R1534:D130040H23Rik UTSW 8 69,755,378 (GRCm39) missense possibly damaging 0.62
R1565:D130040H23Rik UTSW 8 69,755,812 (GRCm39) makesense probably null
R1648:D130040H23Rik UTSW 8 69,755,633 (GRCm39) missense probably benign 0.04
R1869:D130040H23Rik UTSW 8 69,755,354 (GRCm39) missense probably benign 0.22
R1870:D130040H23Rik UTSW 8 69,755,354 (GRCm39) missense probably benign 0.22
R1871:D130040H23Rik UTSW 8 69,755,354 (GRCm39) missense probably benign 0.22
R2025:D130040H23Rik UTSW 8 69,755,525 (GRCm39) missense probably benign 0.29
R3418:D130040H23Rik UTSW 8 69,755,579 (GRCm39) missense probably benign 0.27
R3810:D130040H23Rik UTSW 8 69,755,022 (GRCm39) missense probably damaging 1.00
R3896:D130040H23Rik UTSW 8 69,755,610 (GRCm39) missense probably damaging 1.00
R4477:D130040H23Rik UTSW 8 69,755,155 (GRCm39) missense possibly damaging 0.95
R4478:D130040H23Rik UTSW 8 69,755,155 (GRCm39) missense possibly damaging 0.95
R4479:D130040H23Rik UTSW 8 69,755,155 (GRCm39) missense possibly damaging 0.95
R4480:D130040H23Rik UTSW 8 69,755,155 (GRCm39) missense possibly damaging 0.95
R7121:D130040H23Rik UTSW 8 69,754,931 (GRCm39) missense probably damaging 0.99
R7821:D130040H23Rik UTSW 8 69,752,887 (GRCm39) splice site probably null
R8269:D130040H23Rik UTSW 8 69,755,800 (GRCm39) missense probably benign 0.00
R8747:D130040H23Rik UTSW 8 69,755,705 (GRCm39) missense probably benign 0.00
R8946:D130040H23Rik UTSW 8 69,755,033 (GRCm39) missense possibly damaging 0.70
R9095:D130040H23Rik UTSW 8 69,755,748 (GRCm39) frame shift probably null
R9776:D130040H23Rik UTSW 8 69,755,566 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCCTTTTCACAACAGAGCCAT -3'
(R):5'- ATGCAAAGGCTTTACCGCA -3'

Sequencing Primer
(F):5'- TGGAGAGAAGCCCTACAAATGTAATC -3'
(R):5'- TACCGCATTCCTTACATTTGTAGGGG -3'
Posted On 2018-09-12