Incidental Mutation 'R4480:D130040H23Rik'
ID331429
Institutional Source Beutler Lab
Gene Symbol D130040H23Rik
Ensembl Gene ENSMUSG00000079038
Gene NameRIKEN cDNA D130040H23 gene
Synonyms
MMRRC Submission 041737-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #R4480 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location69271080-69314207 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 69302503 bp
ZygosityHeterozygous
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]
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: 94.8%
Validation Efficiency 95% (40/42)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 46,005,239 T553A possibly damaging Het
Adgrb3 A T 1: 25,111,748 F1135I probably damaging Het
Arfgef3 A T 10: 18,600,600 F1490L probably damaging Het
Begain A G 12: 109,034,123 Y446H probably damaging Het
Cdh15 A G 8: 122,864,676 H517R probably benign Het
Dip2b C T 15: 100,186,301 T935M probably damaging Het
Eif2s2 T C 2: 154,888,270 T36A probably benign Het
Eif4g1 G T 16: 20,678,843 probably benign Het
Fat3 G A 9: 15,998,271 S2145F probably damaging Het
Fbxo10 T C 4: 45,048,470 Y555C probably damaging Het
Fpr2 C T 17: 17,893,753 T337I probably benign Het
Frem3 A T 8: 80,611,357 Q93L probably benign Het
Gapdh A G 6: 125,163,182 V119A possibly damaging Het
Gm3159 T C 14: 4,398,584 Y92H probably damaging Het
Hkdc1 T C 10: 62,391,372 I769V probably benign Het
Ifne T C 4: 88,879,601 *193W probably null Het
Katna1 T C 10: 7,738,830 V32A probably damaging Het
Nup107 T C 10: 117,761,332 I673V probably benign Het
Nup188 T A 2: 30,322,129 probably benign Het
Obscn T C 11: 59,131,646 R758G possibly damaging Het
Olfr1510 G A 14: 52,410,308 A188V probably damaging Het
Olfr330 G T 11: 58,529,801 P62T probably damaging Het
Pcdhb5 T A 18: 37,320,752 S62T probably benign Het
Plekha5 T C 6: 140,526,479 V44A probably damaging Het
Psg18 C T 7: 18,350,862 S103N probably benign Het
Ptprcap A G 19: 4,156,224 E102G probably benign Het
Ptprs A G 17: 56,426,404 V804A possibly damaging Het
Rab35 C A 5: 115,637,764 S34* probably null Het
Slco6d1 T A 1: 98,507,574 Y671* probably null Het
Sostdc1 A G 12: 36,317,166 I114V probably damaging Het
Tecta A G 9: 42,373,233 F852S possibly damaging Het
Tmem179 T C 12: 112,503,303 E21G probably benign Het
Tmem2 A G 19: 21,815,489 Q703R probably benign Het
Usp17la T A 7: 104,860,690 H167Q probably benign Het
Vps8 A T 16: 21,545,236 probably benign Het
Wdr17 A G 8: 54,664,964 probably null Het
Wdr73 T C 7: 80,893,221 E213G probably benign Het
Zfp985 A G 4: 147,584,079 D468G probably benign Het
Other mutations in D130040H23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:D130040H23Rik APN 8 69300770 missense possibly damaging 0.59
R0164:D130040H23Rik UTSW 8 69302543 missense possibly damaging 0.61
R0164:D130040H23Rik UTSW 8 69302543 missense possibly damaging 0.61
R0269:D130040H23Rik UTSW 8 69300794 missense probably benign 0.00
R1534:D130040H23Rik UTSW 8 69302726 missense possibly damaging 0.62
R1565:D130040H23Rik UTSW 8 69303160 makesense probably null
R1648:D130040H23Rik UTSW 8 69302981 missense probably benign 0.04
R1869:D130040H23Rik UTSW 8 69302702 missense probably benign 0.22
R1870:D130040H23Rik UTSW 8 69302702 missense probably benign 0.22
R1871:D130040H23Rik UTSW 8 69302702 missense probably benign 0.22
R2025:D130040H23Rik UTSW 8 69302873 missense probably benign 0.29
R3418:D130040H23Rik UTSW 8 69302927 missense probably benign 0.27
R3810:D130040H23Rik UTSW 8 69302370 missense probably damaging 1.00
R3896:D130040H23Rik UTSW 8 69302958 missense probably damaging 1.00
R4477:D130040H23Rik UTSW 8 69302503 missense possibly damaging 0.95
R4478:D130040H23Rik UTSW 8 69302503 missense possibly damaging 0.95
R4479:D130040H23Rik UTSW 8 69302503 missense possibly damaging 0.95
R6849:D130040H23Rik UTSW 8 69302651 nonsense probably null
R7121:D130040H23Rik UTSW 8 69302279 missense probably damaging 0.99
R7821:D130040H23Rik UTSW 8 69300235 intron probably null
Predicted Primers PCR Primer
(F):5'- AGCCCTATGAATGTAATCAGTGTG -3'
(R):5'- ATTTGTAGGGGTTCTCTCCAGT -3'

Sequencing Primer
(F):5'- GTGCTAAAGCCTTTTCACAACAGAG -3'
(R):5'- GTGATGTGCAAAGGTCTTACCAC -3'
Posted On2015-07-21