Incidental Mutation 'R2993:1700003H04Rik'
ID257958
Institutional Source Beutler Lab
Gene Symbol 1700003H04Rik
Ensembl Gene ENSMUSG00000039174
Gene NameRIKEN cDNA 1700003H04 gene
Synonyms
MMRRC Submission 040528-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #R2993 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location124556352-124581101 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 124578535 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 67 (W67R)
Ref Sequence ENSEMBL: ENSMUSP00000137342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047110] [ENSMUST00000178485] [ENSMUST00000178953] [ENSMUST00000180033] [ENSMUST00000180162]
Predicted Effect probably damaging
Transcript: ENSMUST00000047110
AA Change: W67R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035388
Gene: ENSMUSG00000039174
AA Change: W67R

DomainStartEndE-ValueType
SCOP:d1kz7a2 7 68 4e-4 SMART
Blast:PH 18 114 4e-35 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000177772
Predicted Effect probably damaging
Transcript: ENSMUST00000178485
AA Change: W67R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136984
Gene: ENSMUSG00000039174
AA Change: W67R

DomainStartEndE-ValueType
SCOP:d1kz7a2 7 68 2e-4 SMART
Blast:PH 18 99 2e-54 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000178953
SMART Domains Protein: ENSMUSP00000136955
Gene: ENSMUSG00000039174

DomainStartEndE-ValueType
Blast:PH 18 91 3e-16 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000180033
AA Change: W67R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136217
Gene: ENSMUSG00000039174
AA Change: W67R

DomainStartEndE-ValueType
PH 18 119 1.53e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000180162
AA Change: W67R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137342
Gene: ENSMUSG00000039174
AA Change: W67R

DomainStartEndE-ValueType
SCOP:d1kz7a2 7 117 2e-7 SMART
Blast:PH 18 115 1e-67 BLAST
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210011C24Rik A G 8: 84,011,584 L34P probably damaging Het
2610528A11Rik T A 14: 37,107,445 H27L probably benign Het
4931408C20Rik A T 1: 26,685,828 D90E possibly damaging Het
Abca16 T C 7: 120,535,161 V1377A probably damaging Het
Adarb2 A C 13: 8,713,716 I550L probably benign Het
Afdn T C 17: 13,891,000 probably null Het
Ago1 G T 4: 126,440,046 probably benign Het
Atp4a G A 7: 30,720,225 R671Q probably benign Het
Cdc7 G A 5: 106,973,898 V226I probably benign Het
Cdh15 G A 8: 122,862,024 R279Q probably damaging Het
Cyp4a31 G A 4: 115,569,820 V206I probably benign Het
Ddx47 G T 6: 135,018,981 R120L probably damaging Het
Dnah7a G A 1: 53,503,554 L2486F probably damaging Het
Eif3d A G 15: 77,961,705 I372T possibly damaging Het
Eogt A T 6: 97,118,954 probably null Het
Epb42 G A 2: 121,029,044 probably benign Het
Fbxl2 T C 9: 113,989,416 E159G possibly damaging Het
Gabrb2 T C 11: 42,597,649 V314A probably damaging Het
Gtf2h3 T C 5: 124,583,934 F32L probably benign Het
Gzmk A G 13: 113,180,477 I56T probably damaging Het
Katnbl1 G T 2: 112,408,618 probably null Het
Klhdc4 G C 8: 121,806,581 S118* probably null Het
Klrb1-ps1 A T 6: 129,121,029 K73N probably benign Het
Lrp1 T C 10: 127,610,381 D98G probably damaging Het
Lrrfip1 C A 1: 91,105,234 D313E probably damaging Het
Mmp21 C T 7: 133,678,986 R85H probably damaging Het
Mrpl16 A G 19: 11,774,531 I218M possibly damaging Het
Mtmr4 T A 11: 87,604,997 V553D probably damaging Het
Rap1gap2 C A 11: 74,407,322 A491S possibly damaging Het
Secisbp2l C T 2: 125,740,737 G933D possibly damaging Het
Vmn1r224 T A 17: 20,419,210 S16R probably damaging Het
Vmn2r55 C T 7: 12,684,955 A13T probably damaging Het
Zer1 A G 2: 30,101,897 V637A probably damaging Het
Other mutations in 1700003H04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01451:1700003H04Rik APN 3 124579878 missense possibly damaging 0.83
IGL01640:1700003H04Rik APN 3 124579938 missense probably damaging 0.99
IGL03240:1700003H04Rik APN 3 124556716 utr 3 prime probably benign
R1513:1700003H04Rik UTSW 3 124575336 missense possibly damaging 0.91
R1537:1700003H04Rik UTSW 3 124578475 missense possibly damaging 0.66
R1832:1700003H04Rik UTSW 3 124556860 missense unknown
R1833:1700003H04Rik UTSW 3 124556860 missense unknown
R1872:1700003H04Rik UTSW 3 124556844 missense unknown
R4118:1700003H04Rik UTSW 3 124579854 missense possibly damaging 0.92
R5271:1700003H04Rik UTSW 3 124579847 missense possibly damaging 0.66
R5911:1700003H04Rik UTSW 3 124556731 utr 3 prime probably benign
R7479:1700003H04Rik UTSW 3 124578493 missense probably benign 0.00
R7573:1700003H04Rik UTSW 3 124573268 missense
R7995:1700003H04Rik UTSW 3 124556879 missense unknown
Predicted Primers PCR Primer
(F):5'- AGTCTGCCCACTGTTGATCC -3'
(R):5'- GCTGCAGCTTTGTTGAGATCC -3'

Sequencing Primer
(F):5'- CCACTGTTGATCCATTTATACACATG -3'
(R):5'- AGCTTTGTTGAGATCCATCTACCATG -3'
Posted On2015-01-11