Incidental Mutation 'R7479:1700003H04Rik'
ID 579646
Institutional Source Beutler Lab
Gene Symbol 1700003H04Rik
Ensembl Gene ENSMUSG00000039174
Gene Name RIKEN cDNA 1700003H04 gene
Synonyms
MMRRC Submission 045553-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R7479 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 124359540-124374740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124372142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 81 (M81L)
Ref Sequence ENSEMBL: ENSMUSP00000136984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047110] [ENSMUST00000178485] [ENSMUST00000178953] [ENSMUST00000180033] [ENSMUST00000180162]
AlphaFold E9PXM2
Predicted Effect probably benign
Transcript: ENSMUST00000047110
AA Change: N80I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000035388
Gene: ENSMUSG00000039174
AA Change: N80I

DomainStartEndE-ValueType
SCOP:d1kz7a2 7 68 4e-4 SMART
Blast:PH 18 114 4e-35 BLAST
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000178485
AA Change: M81L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000136984
Gene: ENSMUSG00000039174
AA Change: M81L

DomainStartEndE-ValueType
SCOP:d1kz7a2 7 68 2e-4 SMART
Blast:PH 18 99 2e-54 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000178953
AA Change: N58I

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000136955
Gene: ENSMUSG00000039174
AA Change: N58I

DomainStartEndE-ValueType
Blast:PH 18 91 3e-16 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000180033
AA Change: M81L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000136217
Gene: ENSMUSG00000039174
AA Change: M81L

DomainStartEndE-ValueType
PH 18 119 1.53e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180162
AA Change: M81L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000137342
Gene: ENSMUSG00000039174
AA Change: M81L

DomainStartEndE-ValueType
SCOP:d1kz7a2 7 117 2e-7 SMART
Blast:PH 18 115 1e-67 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano9 T C 7: 140,682,348 (GRCm39) T667A probably damaging Het
Anpep T A 7: 79,485,118 (GRCm39) I623F probably benign Het
Apba2 T C 7: 64,389,607 (GRCm39) I501T possibly damaging Het
Ascc3 T A 10: 50,525,895 (GRCm39) Y536N probably damaging Het
B4galt1 T C 4: 40,823,587 (GRCm39) Y168C probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C2 A G 17: 35,082,441 (GRCm39) C647R probably damaging Het
Cnot4 G A 6: 35,001,083 (GRCm39) T604I probably benign Het
Col11a1 C T 3: 113,896,218 (GRCm39) T506I unknown Het
Cr2 A C 1: 194,840,718 (GRCm39) probably null Het
Ctsm A T 13: 61,685,569 (GRCm39) V281D probably damaging Het
Cyp2c69 T C 19: 39,870,001 (GRCm39) I74V probably benign Het
Dennd4c T A 4: 86,717,590 (GRCm39) V529D probably damaging Het
Dlgap3 C A 4: 127,088,418 (GRCm39) H5N possibly damaging Het
Dusp10 C A 1: 183,769,617 (GRCm39) H194Q probably damaging Het
Eln C G 5: 134,736,429 (GRCm39) G753A unknown Het
Emb T A 13: 117,385,962 (GRCm39) N118K possibly damaging Het
Fam184a C T 10: 53,531,110 (GRCm39) V755I probably benign Het
Fryl A G 5: 73,254,904 (GRCm39) I846T possibly damaging Het
Gabbr2 T A 4: 46,681,166 (GRCm39) I722F probably damaging Het
Gabrb3 T A 7: 57,474,171 (GRCm39) D362E possibly damaging Het
Galnt2 G A 8: 125,061,077 (GRCm39) G357D probably damaging Het
Gbx2 A T 1: 89,858,373 (GRCm39) S35R probably benign Het
Glg1 A G 8: 111,924,367 (GRCm39) I207T possibly damaging Het
Gm10192 A T 4: 97,071,272 (GRCm39) N44K unknown Het
Gpd1 A G 15: 99,617,984 (GRCm39) D123G probably benign Het
Grm2 A T 9: 106,531,050 (GRCm39) D146E possibly damaging Het
Gsg1l2 A G 11: 67,676,032 (GRCm39) D132G probably benign Het
Hecw1 C T 13: 14,515,425 (GRCm39) G236R probably damaging Het
Hif3a G A 7: 16,776,560 (GRCm39) T462I possibly damaging Het
Hspg2 C T 4: 137,266,714 (GRCm39) A1934V probably benign Het
Il7r C T 15: 9,513,117 (GRCm39) A131T probably damaging Het
Itga6 C T 2: 71,668,680 (GRCm39) R540* probably null Het
Kcnh2 A G 5: 24,530,490 (GRCm39) probably null Het
Kcnq4 C T 4: 120,573,022 (GRCm39) A260T probably damaging Het
Lrp1b T C 2: 40,691,517 (GRCm39) N3434S Het
Lrrc41 C T 4: 115,946,238 (GRCm39) P318S probably damaging Het
Map4 G A 9: 109,897,892 (GRCm39) G873R possibly damaging Het
Med24 A G 11: 98,595,787 (GRCm39) I968T possibly damaging Het
Mfap5 T C 6: 122,503,821 (GRCm39) probably null Het
Mtcl1 A G 17: 66,686,485 (GRCm39) V807A probably benign Het
Mug1 T A 6: 121,855,467 (GRCm39) S934T possibly damaging Het
Nckap5l C A 15: 99,321,127 (GRCm39) V1218F probably damaging Het
Nek1 T A 8: 61,583,179 (GRCm39) D1272E probably benign Het
Nkx2-4 T C 2: 146,926,088 (GRCm39) E258G probably benign Het
Polr1a T A 6: 71,913,281 (GRCm39) V545E probably damaging Het
Ppp1r9b A G 11: 94,882,858 (GRCm39) D162G possibly damaging Het
Rhot2 A G 17: 26,059,723 (GRCm39) L367P probably damaging Het
Ripk2 A G 4: 16,155,154 (GRCm39) F122L probably benign Het
Scn11a T C 9: 119,588,941 (GRCm39) T1322A probably benign Het
Scn8a T A 15: 100,853,358 (GRCm39) L115Q probably damaging Het
Sel1l3 G T 5: 53,274,462 (GRCm39) P1006Q probably damaging Het
Septin11 A T 5: 93,304,804 (GRCm39) N207I probably damaging Het
Sez6l2 C T 7: 126,562,831 (GRCm39) T669I probably damaging Het
Sfxn4 T A 19: 60,847,112 (GRCm39) D57V possibly damaging Het
Smarca2 T A 19: 26,617,887 (GRCm39) V306D probably benign Het
Srgap3 C T 6: 112,712,794 (GRCm39) probably null Het
Tas2r134 T C 2: 51,517,541 (GRCm39) F7L not run Het
Tbcd T C 11: 121,383,431 (GRCm39) probably null Het
Tcn2 G A 11: 3,867,703 (GRCm39) A413V probably damaging Het
Tdp1 T C 12: 99,857,654 (GRCm39) V71A probably benign Het
Tjp1 T C 7: 64,950,928 (GRCm39) T1649A probably damaging Het
Tnc T C 4: 63,935,865 (GRCm39) E357G possibly damaging Het
Tnrc6b A G 15: 80,773,327 (GRCm39) T1158A probably benign Het
Ttn C A 2: 76,568,952 (GRCm39) E27314* probably null Het
Vps35 G T 8: 85,997,434 (GRCm39) T512K probably benign Het
Zfp40 A T 17: 23,396,292 (GRCm39) S98R probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp945 A T 17: 23,070,340 (GRCm39) C541S possibly damaging Het
Zfp976 T A 7: 42,262,603 (GRCm39) E412D probably benign 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
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
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'- AGTCTGCCCACTGTTGATCC -3'
(R):5'- AAGGAACGGGGTTTTGCCATG -3'

Sequencing Primer
(F):5'- CCACTGTTGATCCATTTATACACATG -3'
(R):5'- GGTTTTGCCATGAACAGTTCCAC -3'
Posted On 2019-10-07