Incidental Mutation 'R5271:1700003H04Rik'
ID400274
Institutional Source Beutler Lab
Gene Symbol 1700003H04Rik
Ensembl Gene ENSMUSG00000039174
Gene NameRIKEN cDNA 1700003H04 gene
Synonyms
MMRRC Submission 042861-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #R5271 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location124556352-124581101 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 124579847 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 33 (K33R)
Ref Sequence ENSEMBL: ENSMUSP00000136955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047110] [ENSMUST00000178485] [ENSMUST00000178953] [ENSMUST00000180033] [ENSMUST00000180162]
Predicted Effect probably benign
Transcript: ENSMUST00000047110
AA Change: K33R

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000035388
Gene: ENSMUSG00000039174
AA Change: K33R

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 benign
Transcript: ENSMUST00000178485
AA Change: K33R

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000136984
Gene: ENSMUSG00000039174
AA Change: K33R

DomainStartEndE-ValueType
SCOP:d1kz7a2 7 68 2e-4 SMART
Blast:PH 18 99 2e-54 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000178953
AA Change: K33R

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136955
Gene: ENSMUSG00000039174
AA Change: K33R

DomainStartEndE-ValueType
Blast:PH 18 91 3e-16 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000180033
AA Change: K33R

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000136217
Gene: ENSMUSG00000039174
AA Change: K33R

DomainStartEndE-ValueType
PH 18 119 1.53e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180162
AA Change: K33R

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000137342
Gene: ENSMUSG00000039174
AA Change: K33R

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 97% (65/67)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4632415L05Rik C T 3: 19,895,147 noncoding transcript Het
4930542C16Rik A C 14: 24,615,530 noncoding transcript Het
Adprh A T 16: 38,446,054 L242* probably null Het
Anapc1 G A 2: 128,685,985 Q18* probably null Het
Bfar T C 16: 13,692,397 probably benign Het
Bmp1 T C 14: 70,508,128 I206V probably benign Het
Cc2d1b T A 4: 108,623,629 probably benign Het
Clock A G 5: 76,241,954 I349T probably damaging Het
Cox11 A G 11: 90,643,732 Y60C probably damaging Het
Cyp1a1 G A 9: 57,702,838 V512M probably benign Het
Dcdc2a T C 13: 25,187,688 F311S probably benign Het
Dnase1l3 T C 14: 7,993,843 D48G probably damaging Het
Engase G T 11: 118,481,397 A172S probably damaging Het
F2 T C 2: 91,635,121 probably benign Het
Gcc2 T C 10: 58,269,695 V215A possibly damaging Het
Gm11677 C T 11: 111,724,711 noncoding transcript Het
Gm14548 A T 7: 3,897,567 Y61* probably null Het
Gm20388 A G 8: 122,271,133 probably benign Het
Gm20671 T C 5: 32,819,959 K1817R possibly damaging Het
Gm20939 T A 17: 94,877,155 Y410* probably null Het
Gm27013 T C 6: 130,676,915 Y528C probably damaging Het
Gm9992 T C 17: 7,369,682 N149S possibly damaging Het
Il23r T C 6: 67,423,696 H550R probably benign Het
Iqgap1 A T 7: 80,734,148 V1056E probably damaging Het
Lrit3 T A 3: 129,788,301 Y679F probably damaging Het
Megf8 A T 7: 25,341,706 E1120V probably damaging Het
Mta1 A G 12: 113,131,957 E518G probably damaging Het
Myo9a A G 9: 59,907,382 I2200M probably damaging Het
Ncoa7 T C 10: 30,722,729 H66R probably benign Het
Ncor1 A G 11: 62,340,545 V812A probably damaging Het
Ndnf T C 6: 65,703,666 Y310H possibly damaging Het
Ndst1 G A 18: 60,705,132 T347I probably benign Het
Olfr1229 A T 2: 89,282,953 F60Y probably benign Het
Olfr512 T C 7: 108,714,217 L276S probably damaging Het
Pcdhb10 C A 18: 37,413,169 Q433K probably benign Het
Pcdhb18 G A 18: 37,491,596 V660M possibly damaging Het
Pds5b T A 5: 150,723,353 N202K possibly damaging Het
Polk T C 13: 96,483,539 S718G probably benign Het
Ptpdc1 T C 13: 48,590,698 D149G probably damaging Het
Rb1cc1 T A 1: 6,249,193 C35* probably null Het
Samd9l C T 6: 3,376,156 M368I probably benign Het
Shroom3 T C 5: 92,962,248 M1739T probably damaging Het
Slc18a3 A G 14: 32,463,748 L226P probably damaging Het
St7l A T 3: 104,868,060 Y84F probably damaging Het
Svil A T 18: 5,062,329 N392I probably benign Het
Syngr1 T A 15: 80,098,039 M9K probably benign Het
Taar2 T C 10: 23,941,032 S157P probably damaging Het
Tagap1 G T 17: 6,956,096 Y400* probably null Het
Tbc1d8 T A 1: 39,373,767 E976V probably damaging Het
Tmem163 G A 1: 127,491,552 probably benign Het
Tnfaip2 A G 12: 111,448,460 probably benign Het
Ttn C T 2: 76,706,517 S34988N possibly damaging Het
Tubg1 T G 11: 101,120,238 N15K probably damaging Het
Vmn2r-ps159 G T 4: 156,334,397 noncoding transcript Het
Zap70 T A 1: 36,781,365 V547D probably damaging Het
Zfp146 G T 7: 30,162,475 N47K probably benign Het
Znrf1 T G 8: 111,609,344 M159R probably benign 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
R2993:1700003H04Rik UTSW 3 124578535 missense probably damaging 1.00
R4118:1700003H04Rik UTSW 3 124579854 missense possibly damaging 0.92
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'- TTGTATTCTCCACAGGAGTAGACAG -3'
(R):5'- GAAACTGGCTTTAGCAATTGAGAC -3'

Sequencing Primer
(F):5'- GAGTAGACAGCAAAAACAGACCTTTC -3'
(R):5'- ACATGTCAACCTTTAAATTTAGCATG -3'
Posted On2016-07-06