Incidental Mutation 'R4478:D130040H23Rik'
ID 331360
Institutional Source Beutler Lab
Gene Symbol D130040H23Rik
Ensembl Gene ENSMUSG00000079038
Gene Name RIKEN cDNA D130040H23 gene
Synonyms
MMRRC Submission 041735-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R4478 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 69723732-69766859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 69755155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 187 (H187N)
Ref Sequence ENSEMBL: ENSMUSP00000077378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078257] [ENSMUST00000212549]
AlphaFold Q8BII3
Predicted Effect possibly damaging
Transcript: ENSMUST00000078257
AA Change: H187N

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077378
Gene: ENSMUSG00000079038
AA Change: H187N

DomainStartEndE-ValueType
internal_repeat_1 2 170 4.27e-17 PROSPERO
internal_repeat_1 199 366 4.27e-17 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212443
Predicted Effect possibly damaging
Transcript: ENSMUST00000212549
AA Change: T204K

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 94% (46/49)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,185,171 (GRCm39) D509G probably benign Het
Ank1 C T 8: 23,610,594 (GRCm39) T1379I probably benign Het
Ap1m2 A G 9: 21,209,509 (GRCm39) V389A probably benign Het
Cdh15 A G 8: 123,591,415 (GRCm39) H517R probably benign Het
Chd9 T C 8: 91,760,659 (GRCm39) probably benign Het
Chp2 A G 7: 121,820,141 (GRCm39) D97G probably benign Het
Cpne5 T C 17: 29,428,450 (GRCm39) T118A probably damaging Het
Dag1 G C 9: 108,085,929 (GRCm39) T404R probably damaging Het
Dnah3 T G 7: 119,671,086 (GRCm39) H599P probably benign Het
Eif4g1 G T 16: 20,497,593 (GRCm39) probably benign Het
Fabp9 T C 3: 10,262,166 (GRCm39) Y30C probably damaging Het
Fnbp1 G A 2: 30,995,266 (GRCm39) A56V probably damaging Het
Hid1 G A 11: 115,252,481 (GRCm39) A67V probably damaging Het
Il6ra T A 3: 89,797,597 (GRCm39) Y90F probably damaging Het
Kcnk18 T C 19: 59,223,676 (GRCm39) S274P probably damaging Het
Kndc1 A T 7: 139,500,600 (GRCm39) D655V probably damaging Het
Lrrk2 G A 15: 91,607,391 (GRCm39) A585T probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Myo9b A T 8: 71,743,725 (GRCm39) K262M probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or10aa1 C T 1: 173,870,182 (GRCm39) T222I probably benign Het
Or6c6b C T 10: 129,147,645 (GRCm39) L90F possibly damaging Het
Or8h10 G T 2: 86,808,562 (GRCm39) R193S probably benign Het
Plxna4 A T 6: 32,173,068 (GRCm39) C1288S possibly damaging Het
Ptpn22 T C 3: 103,809,380 (GRCm39) probably benign Het
Rab11fip3 C T 17: 26,235,057 (GRCm39) E619K probably damaging Het
Robo2 C A 16: 73,812,761 (GRCm39) R311L probably damaging Het
S2bpcox16 T C 12: 81,535,990 (GRCm39) probably benign Het
Sdad1 A G 5: 92,445,019 (GRCm39) M315T probably damaging Het
Slc39a12 T A 2: 14,424,990 (GRCm39) L407* probably null Het
Snap29 T C 16: 17,246,019 (GRCm39) V213A probably benign Het
Spef1l A T 7: 139,555,773 (GRCm39) probably null Het
Stard7 T A 2: 127,126,179 (GRCm39) L77Q probably damaging Het
Stat5b A G 11: 100,678,110 (GRCm39) Y668H probably benign Het
Tgfb2 A G 1: 186,364,696 (GRCm39) I266T probably damaging Het
Tmem87a C T 2: 120,199,824 (GRCm39) W440* probably null Het
Tnr T A 1: 159,712,326 (GRCm39) probably null Het
Ubl3 C T 5: 148,448,787 (GRCm39) S18N probably benign Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vmn2r9 T C 5: 108,994,143 (GRCm39) E502G probably benign Het
Vps8 A T 16: 21,363,986 (GRCm39) probably benign Het
Vwa8 T A 14: 79,106,241 (GRCm39) D61E probably benign Het
Wdr73 T C 7: 80,542,969 (GRCm39) E213G probably benign Het
Zfp1 A G 8: 112,397,175 (GRCm39) R366G probably damaging Het
Zfp282 A T 6: 47,867,630 (GRCm39) R269* probably null 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
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
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'- TGCTAAAGCCTTTTCACAACAGA -3'
(R):5'- AAGGCTTTACCGCATTCCTT -3'

Sequencing Primer
(F):5'- TTTTCACAACAGAGCCATCTCCAG -3'
(R):5'- GTGATGTGCAAAGGTCTTACCAC -3'
Posted On 2015-07-21