Incidental Mutation 'R4118:1700003H04Rik'
ID 315161
Institutional Source Beutler Lab
Gene Symbol 1700003H04Rik
Ensembl Gene ENSMUSG00000039174
Gene Name RIKEN cDNA 1700003H04 gene
Synonyms
MMRRC Submission 041631-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R4118 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 124359540-124374740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124373503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 31 (R31G)
Ref Sequence ENSEMBL: ENSMUSP00000035388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047110] [ENSMUST00000178485] [ENSMUST00000178953] [ENSMUST00000180033] [ENSMUST00000180162]
AlphaFold E9PXM2
Predicted Effect possibly damaging
Transcript: ENSMUST00000047110
AA Change: R31G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035388
Gene: ENSMUSG00000039174
AA Change: R31G

DomainStartEndE-ValueType
SCOP:d1kz7a2 7 68 4e-4 SMART
Blast:PH 18 114 4e-35 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000177772
Predicted Effect possibly damaging
Transcript: ENSMUST00000178485
AA Change: R31G

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136984
Gene: ENSMUSG00000039174
AA Change: R31G

DomainStartEndE-ValueType
SCOP:d1kz7a2 7 68 2e-4 SMART
Blast:PH 18 99 2e-54 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000178953
AA Change: R31G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136955
Gene: ENSMUSG00000039174
AA Change: R31G

DomainStartEndE-ValueType
Blast:PH 18 91 3e-16 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000180033
AA Change: R31G

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136217
Gene: ENSMUSG00000039174
AA Change: R31G

DomainStartEndE-ValueType
PH 18 119 1.53e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000180162
AA Change: R31G

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137342
Gene: ENSMUSG00000039174
AA Change: R31G

DomainStartEndE-ValueType
SCOP:d1kz7a2 7 117 2e-7 SMART
Blast:PH 18 115 1e-67 BLAST
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 92% (55/60)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C T 2: 68,566,857 (GRCm39) R419C probably benign Het
Ankmy1 T C 1: 92,816,418 (GRCm39) E232G possibly damaging Het
Arhgef4 A T 1: 34,771,428 (GRCm39) K1245M probably damaging Het
Atp2c1 A G 9: 105,343,858 (GRCm39) L83P probably damaging Het
Atp9b T C 18: 80,793,044 (GRCm39) D1000G possibly damaging Het
Atxn7 T C 14: 14,100,308 (GRCm38) S665P probably benign Het
Bbs4 T C 9: 59,237,708 (GRCm39) Y212C possibly damaging Het
Cars1 A G 7: 143,113,384 (GRCm39) probably null Het
Cep162 T C 9: 87,086,229 (GRCm39) T1032A probably benign Het
Chd7 G A 4: 8,865,831 (GRCm39) E668K probably damaging Het
Dek T C 13: 47,242,076 (GRCm39) T201A probably benign Het
Depdc5 T A 5: 33,121,979 (GRCm39) S1079T probably damaging Het
Etaa1 A T 11: 17,896,180 (GRCm39) S646T probably benign Het
Fat1 T C 8: 45,463,474 (GRCm39) S1339P probably damaging Het
Fat1 C A 8: 45,503,981 (GRCm39) D4491E probably damaging Het
Gmps T C 3: 63,887,615 (GRCm39) V29A probably benign Het
Gpr18 T C 14: 122,149,968 (GRCm39) E19G probably benign Het
Ipo5 A G 14: 121,176,073 (GRCm39) T633A probably benign Het
Jmjd1c T A 10: 67,055,532 (GRCm39) S317R probably damaging Het
Lama3 T A 18: 12,583,488 (GRCm39) M692K probably benign Het
Lrp12 A T 15: 39,741,361 (GRCm39) C451* probably null Het
Lrp2 C T 2: 69,260,606 (GRCm39) probably null Het
Myrfl T A 10: 116,664,870 (GRCm39) I387F probably damaging Het
Naglu G A 11: 100,964,908 (GRCm39) V332I probably benign Het
Nat2 G A 8: 67,954,271 (GRCm39) R127H possibly damaging Het
Otx2 G A 14: 48,896,611 (GRCm39) T141I probably benign Het
Paqr9 T A 9: 95,442,952 (GRCm39) I314N probably damaging Het
Pds5b CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 5: 150,698,819 (GRCm39) probably benign Het
Ppm1d A G 11: 85,202,408 (GRCm39) D37G probably benign Het
Prdm9 T G 17: 15,764,275 (GRCm39) D835A probably benign Het
Ptprq A G 10: 107,547,781 (GRCm39) S206P probably benign Het
Rapgef2 A G 3: 78,976,194 (GRCm39) probably null Het
Rpgrip1l G A 8: 91,979,535 (GRCm39) T969I probably benign Het
Rpp40 A G 13: 36,080,787 (GRCm39) Y316H probably damaging Het
Serpinb3d A T 1: 107,006,960 (GRCm39) D249E possibly damaging Het
Slc22a29 A C 19: 8,137,893 (GRCm39) probably benign Het
Slc35f1 T C 10: 52,965,464 (GRCm39) M293T probably damaging Het
Slmap A T 14: 26,204,027 (GRCm39) L98H probably damaging Het
Tiam1 C T 16: 89,673,921 (GRCm39) probably null Het
Tlr11 A G 14: 50,600,684 (GRCm39) Y890C probably damaging Het
Tmem131l T C 3: 83,868,074 (GRCm39) T194A probably benign Het
Ubap1 A T 4: 41,371,767 (GRCm39) D26V probably damaging Het
Vmn2r91 T A 17: 18,330,358 (GRCm39) N547K probably damaging Het
Wiz C T 17: 32,588,331 (GRCm39) probably benign Het
Wwp2 A G 8: 108,272,091 (GRCm39) T399A probably benign Het
Zfp729b A T 13: 67,740,829 (GRCm39) F479I possibly damaging Het
Zswim5 G A 4: 116,844,016 (GRCm39) R1018H 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
R1833:1700003H04Rik 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
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'- TTGTATTCTCCACAGGAGTAGACAG -3'
(R):5'- CTTGAAACTGGCTTTAGCAATTGAGAC -3'

Sequencing Primer
(F):5'- GAGTAGACAGCAAAAACAGACCTTTC -3'
(R):5'- ACATGTCAACCTTTAAATTTAGCATG -3'
Posted On 2015-05-14