Incidental Mutation 'R1833:1700003H04Rik'
ID 204929
Institutional Source Beutler Lab
Gene Symbol 1700003H04Rik
Ensembl Gene ENSMUSG00000039174
Gene Name RIKEN cDNA 1700003H04 gene
Synonyms
MMRRC Submission 039860-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R1833 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 124359540-124374740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124350509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 143 (D143V)
Ref Sequence ENSEMBL: ENSMUSP00000137342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047110] [ENSMUST00000180162]
AlphaFold E9PXM2
Predicted Effect unknown
Transcript: ENSMUST00000047110
AA Change: T128S
SMART Domains Protein: ENSMUSP00000035388
Gene: ENSMUSG00000039174
AA Change: T128S

DomainStartEndE-ValueType
SCOP:d1kz7a2 7 68 4e-4 SMART
Blast:PH 18 114 4e-35 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000180162
AA Change: D143V
SMART Domains Protein: ENSMUSP00000137342
Gene: ENSMUSG00000039174
AA Change: D143V

DomainStartEndE-ValueType
SCOP:d1kz7a2 7 117 2e-7 SMART
Blast:PH 18 115 1e-67 BLAST
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.9%
Validation Efficiency 99% (83/84)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik C T 11: 58,179,214 (GRCm39) Q183* probably null Het
9230009I02Rik A G 11: 50,982,293 (GRCm39) noncoding transcript Het
Abhd12 T A 2: 150,690,338 (GRCm39) D119V probably damaging Het
Adam1b A G 5: 121,641,000 (GRCm39) I15T possibly damaging Het
Agtpbp1 A T 13: 59,613,797 (GRCm39) probably null Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Arid4a C T 12: 71,122,240 (GRCm39) L874F possibly damaging Het
Bcas3 G A 11: 85,474,775 (GRCm39) V317I probably benign Het
Ccr1 T A 9: 123,764,126 (GRCm39) I135F probably damaging Het
Ces2h A G 8: 105,747,005 (GRCm39) E547G possibly damaging Het
Ces3b T A 8: 105,812,271 (GRCm39) D173E probably damaging Het
Chd3 A G 11: 69,244,949 (GRCm39) L1197S probably damaging Het
Cngb1 A G 8: 95,968,983 (GRCm39) L1175P probably damaging Het
Cyp4f17 T C 17: 32,743,184 (GRCm39) F286L probably benign Het
Dclre1a C T 19: 56,529,932 (GRCm39) probably null Het
Dennd6a T A 14: 26,328,109 (GRCm39) L44H probably damaging Het
Dhx16 A G 17: 36,196,511 (GRCm39) T560A probably benign Het
Dusp12 T C 1: 170,702,022 (GRCm39) M326V probably benign Het
Eif3k T C 7: 28,670,852 (GRCm39) I180V probably benign Het
Erc1 A G 6: 119,720,390 (GRCm39) I437T possibly damaging Het
Farp2 T A 1: 93,504,086 (GRCm39) probably benign Het
Foxa3 A G 7: 18,748,499 (GRCm39) L209P probably damaging Het
Garin2 G A 12: 78,762,280 (GRCm39) probably benign Het
Gen1 A T 12: 11,298,352 (GRCm39) probably benign Het
Gm10305 A G 4: 99,161,363 (GRCm39) T91A unknown Het
Gm14412 T C 2: 177,007,583 (GRCm39) D104G probably benign Het
Gm6900 T C 7: 10,390,515 (GRCm39) noncoding transcript Het
Gpx1 A T 9: 108,216,555 (GRCm39) Y15F possibly damaging Het
H2-M10.3 T C 17: 36,678,387 (GRCm39) Y146C probably damaging Het
H2-Q7 C A 17: 35,658,675 (GRCm39) S104R probably benign Het
Hephl1 T C 9: 14,988,224 (GRCm39) Y628C probably damaging Het
Hspa5 T A 2: 34,666,065 (GRCm39) Y636* probably null Het
Htt A G 5: 35,063,092 (GRCm39) probably benign Het
Idh1 T C 1: 65,200,273 (GRCm39) I364V probably benign Het
Itgae G T 11: 73,007,988 (GRCm39) A423S possibly damaging Het
Kng2 T C 16: 22,830,802 (GRCm39) N169S possibly damaging Het
Larp4b C T 13: 9,201,235 (GRCm39) T369I possibly damaging Het
Lcor T C 19: 41,573,387 (GRCm39) I714T probably benign Het
Lhfpl7 A G 5: 113,382,435 (GRCm39) probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Magi2 G T 5: 19,432,455 (GRCm39) G57C probably damaging Het
Mdn1 T A 4: 32,720,761 (GRCm39) H2291Q probably damaging Het
Mgam T C 6: 40,631,652 (GRCm39) probably null Het
Micall2 A G 5: 139,702,508 (GRCm39) V245A probably benign Het
Mipep T G 14: 61,109,512 (GRCm39) Y630D probably damaging Het
Msx2 A T 13: 53,622,221 (GRCm39) M263K probably damaging Het
Nectin2 G T 7: 19,451,633 (GRCm39) P467H probably damaging Het
Nek10 A T 14: 14,842,789 (GRCm38) M165L probably benign Het
Nlrp4b A T 7: 10,459,863 (GRCm39) M455L probably benign Het
Oaz3 TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG TGGAGGCAGGAGCACGGGAGGCAG 3: 94,343,349 (GRCm39) probably benign Het
Or10ad1b T A 15: 98,124,846 (GRCm39) I227F probably damaging Het
Or4c10 T A 2: 89,760,645 (GRCm39) L164* probably null Het
Pcx T A 19: 4,669,132 (GRCm39) V710E probably damaging Het
Pkn2 C T 3: 142,527,408 (GRCm39) R347Q probably damaging Het
Pramel51 T C 12: 88,145,218 (GRCm39) E44G possibly damaging Het
Qsox1 C T 1: 155,666,791 (GRCm39) G233S probably benign Het
Rbl1 T A 2: 157,037,475 (GRCm39) N224I probably damaging Het
Rspry1 A G 8: 95,362,116 (GRCm39) T132A probably damaging Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Sema4f A T 6: 82,895,540 (GRCm39) L331H probably benign Het
Sf3b3 T A 8: 111,544,198 (GRCm39) Q814L probably benign Het
Slc19a2 T G 1: 164,089,753 (GRCm39) Y190D probably damaging Het
Smarcc1 T A 9: 109,982,879 (GRCm39) H204Q possibly damaging Het
Sox6 T C 7: 115,376,328 (GRCm39) K135E probably damaging Het
Tecpr1 T C 5: 144,145,426 (GRCm39) Q607R probably damaging Het
Tgfb1i1 A G 7: 127,848,670 (GRCm39) probably benign Het
Tirap T G 9: 35,099,999 (GRCm39) R228S probably benign Het
Trp53bp2 T A 1: 182,256,581 (GRCm39) H50Q probably damaging Het
Try4 A G 6: 41,280,365 (GRCm39) H63R probably damaging Het
Vmn2r25 G A 6: 123,816,643 (GRCm39) P313S probably benign Het
Vps26a A C 10: 62,294,825 (GRCm39) L250V probably benign Het
Vwf A G 6: 125,619,000 (GRCm39) H1226R probably benign Het
Wdtc1 TCC TC 4: 133,036,053 (GRCm39) probably benign Het
Zc3hav1l A T 6: 38,274,881 (GRCm39) probably benign Het
Zfp119b T G 17: 56,246,271 (GRCm39) H305P probably damaging Het
Zfp326 C T 5: 106,039,035 (GRCm39) Q134* probably null Het
Zfp975 C T 7: 42,311,263 (GRCm39) R450Q probably benign Het
Zfyve26 A T 12: 79,333,032 (GRCm39) M313K probably benign Het
Zscan5b T C 7: 6,241,965 (GRCm39) S395P possibly damaging Het
Other mutations in 1700003H04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01451:1700003H04Rik APN 3 124,373,527 (GRCm39) missense possibly damaging 0.83
IGL01640:1700003H04Rik APN 3 124,373,587 (GRCm39) missense probably damaging 0.99
IGL03240:1700003H04Rik APN 3 124,350,365 (GRCm39) utr 3 prime probably benign
R1513:1700003H04Rik UTSW 3 124,368,985 (GRCm39) missense possibly damaging 0.91
R1537:1700003H04Rik UTSW 3 124,372,124 (GRCm39) missense possibly damaging 0.66
R1832:1700003H04Rik UTSW 3 124,350,509 (GRCm39) missense unknown
R1872:1700003H04Rik UTSW 3 124,350,493 (GRCm39) missense unknown
R2993:1700003H04Rik UTSW 3 124,372,184 (GRCm39) missense probably damaging 1.00
R4118:1700003H04Rik UTSW 3 124,373,503 (GRCm39) missense possibly damaging 0.92
R5271:1700003H04Rik UTSW 3 124,373,496 (GRCm39) missense possibly damaging 0.66
R5911:1700003H04Rik UTSW 3 124,350,380 (GRCm39) utr 3 prime probably benign
R7479:1700003H04Rik UTSW 3 124,372,142 (GRCm39) missense probably benign 0.00
R7573:1700003H04Rik UTSW 3 124,366,917 (GRCm39) missense
R7995:1700003H04Rik UTSW 3 124,350,528 (GRCm39) missense unknown
R9532:1700003H04Rik UTSW 3 124,350,397 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CAACAGCAGAGGCAGCATTTAG -3'
(R):5'- ACCATTGAGTGCCTGTGTATTG -3'

Sequencing Primer
(F):5'- CAGAGGCAGCATTTAGTAAGGTTAC -3'
(R):5'- GCAGTTCTGATGTCTACAGATGAGAG -3'
Posted On 2014-06-23