Incidental Mutation 'R7821:D130040H23Rik'
ID 628641
Institutional Source Beutler Lab
Gene Symbol D130040H23Rik
Ensembl Gene ENSMUSG00000079038
Gene Name RIKEN cDNA D130040H23 gene
Synonyms
MMRRC Submission 045875-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R7821 (G1)
Quality Score 149.008
Status Validated
Chromosome 8
Chromosomal Location 69723732-69766859 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 69752887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078257] [ENSMUST00000212549]
AlphaFold Q8BII3
Predicted Effect probably benign
Transcript: ENSMUST00000078257
SMART Domains Protein: ENSMUSP00000077378
Gene: ENSMUSG00000079038

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,120,929 (GRCm39) T112S probably damaging Het
Abca12 G T 1: 71,298,950 (GRCm39) S2320R probably benign Het
Abca7 TGGTGCGTGAG TG 10: 79,838,424 (GRCm39) probably benign Het
Adh7 T A 3: 137,932,136 (GRCm39) I250N probably damaging Het
Albfm1 T C 5: 90,740,747 (GRCm39) V560A possibly damaging Het
Aoc1 T A 6: 48,882,745 (GRCm39) I229N probably damaging Het
C2cd6 A T 1: 59,106,951 (GRCm39) Y291* probably null Het
Cacnb4 T C 2: 52,324,520 (GRCm39) D514G possibly damaging Het
Ccdc202 A G 14: 96,119,486 (GRCm39) Q81R possibly damaging Het
Clec2g A G 6: 128,925,740 (GRCm39) T50A probably benign Het
Col6a5 T C 9: 105,741,458 (GRCm39) E2487G probably damaging Het
D6Ertd527e G A 6: 87,087,879 (GRCm39) S14N unknown Het
Dchs1 G A 7: 105,414,352 (GRCm39) T821I probably benign Het
Dhcr24 T C 4: 106,428,633 (GRCm39) S138P possibly damaging Het
Dhrs9 G A 2: 69,224,782 (GRCm39) G157R probably damaging Het
Dnah5 T A 15: 28,411,678 (GRCm39) D3682E possibly damaging Het
Dst T C 1: 34,314,443 (GRCm39) probably null Het
Fat1 A T 8: 45,403,261 (GRCm39) H4L probably benign Het
Flnb A G 14: 7,939,113 (GRCm38) I2319V probably benign Het
Foxe1 T C 4: 46,344,578 (GRCm39) W129R probably damaging Het
Foxred2 G A 15: 77,827,550 (GRCm39) P603L probably benign Het
Fshr A G 17: 89,293,641 (GRCm39) S346P probably damaging Het
Galnt2 T A 8: 125,070,134 (GRCm39) S550R possibly damaging Het
Gpc2 A G 5: 138,274,559 (GRCm39) S312P probably benign Het
Gpr150 C A 13: 76,204,511 (GRCm39) A145S probably benign Het
Grk4 T A 5: 34,867,553 (GRCm39) W173R probably damaging Het
Hoxb9 C G 11: 96,162,537 (GRCm39) P57R probably damaging Het
Hsf5 A G 11: 87,528,954 (GRCm39) Q563R probably benign Het
Ighv1-58 A G 12: 115,275,796 (GRCm39) F114S possibly damaging Het
Klra9 T A 6: 130,162,563 (GRCm39) I158F probably damaging Het
Lrrc8d T C 5: 105,960,210 (GRCm39) S207P probably damaging Het
Nbeal2 T C 9: 110,459,320 (GRCm39) E1929G probably damaging Het
Ncoa1 A G 12: 4,346,221 (GRCm39) M89T probably benign Het
Nkx2-4 T C 2: 146,927,208 (GRCm39) I20V probably benign Het
Nup214 T C 2: 31,916,917 (GRCm39) S1191P possibly damaging Het
Or2n1d A G 17: 38,646,855 (GRCm39) D269G probably benign Het
Pfkp T A 13: 6,647,908 (GRCm39) N556I probably damaging Het
Pidd1 A T 7: 141,022,193 (GRCm39) S199T probably benign Het
Pik3r2 T A 8: 71,222,408 (GRCm39) I515F probably damaging Het
Plcxd2 T A 16: 45,785,524 (GRCm39) I294F probably damaging Het
Prmt6 C A 3: 110,158,303 (GRCm39) probably benign Het
Prpf8 A G 11: 75,385,300 (GRCm39) I812V probably benign Het
Rasa2 T C 9: 96,462,537 (GRCm39) probably null Het
Rsad1 A C 11: 94,435,288 (GRCm39) D266E probably benign Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Het
Shroom3 T A 5: 93,088,705 (GRCm39) V485E probably damaging Het
Siae T A 9: 37,556,196 (GRCm39) Y451N probably damaging Het
Slc7a11 A T 3: 50,335,476 (GRCm39) I354N probably damaging Het
Spryd7 A T 14: 61,783,129 (GRCm39) probably null Het
Srcap A G 7: 127,129,499 (GRCm39) probably benign Het
Svep1 T A 4: 58,179,601 (GRCm39) D214V probably damaging Het
Tmtc4 T C 14: 123,209,289 (GRCm39) I119V probably benign Het
Trim5 G A 7: 103,927,633 (GRCm39) T169I probably benign Het
Ttc33 T C 15: 5,241,506 (GRCm39) F83S probably benign Het
Ubr5 A T 15: 37,997,431 (GRCm39) S1741T probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdcp A G 12: 4,907,975 (GRCm39) N694S probably benign Het
Zfp174 T A 16: 3,666,041 (GRCm39) I102N probably damaging Het
Zfp354a T C 11: 50,960,539 (GRCm39) F248S probably damaging Het
Zfyve26 A T 12: 79,302,098 (GRCm39) C404S probably damaging Het
Zmynd8 A T 2: 165,723,000 (GRCm39) probably benign 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
R6849:D130040H23Rik UTSW 8 69,755,303 (GRCm39) nonsense probably null
R7121:D130040H23Rik UTSW 8 69,754,931 (GRCm39) missense probably damaging 0.99
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'- TGGCCTCTAACTCATGACATTCA -3'
(R):5'- GCTGGGATTAAAGGCGTGC -3'

Sequencing Primer
(F):5'- TGCTTAAGGGCATGAGTCCATACAC -3'
(R):5'- GGATTAAAGGCGTGCACCACC -3'
Posted On 2020-06-01