Incidental Mutation 'RF006:1700057G04Rik'
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ID602833
Institutional Source Beutler Lab
Gene Symbol 1700057G04Rik
Ensembl Gene ENSMUSG00000074139
Gene NameRIKEN cDNA 1700057G04 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #RF006 (G1)
Quality Score225.009
Status Validated
Chromosome9
Chromosomal Location92309377-92357876 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 92352649 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 146 (I146F)
Ref Sequence ENSEMBL: ENSMUSP00000096077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098477] [ENSMUST00000185580]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098477
AA Change: I146F

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000096077
Gene: ENSMUSG00000074139
AA Change: I146F

DomainStartEndE-ValueType
Pfam:Scramblase 1 222 6.3e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135182
AA Change: I59F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000185580
AA Change: I70F

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139734
Gene: ENSMUSG00000074139
AA Change: I70F

DomainStartEndE-ValueType
Pfam:Scramblase 1 146 8.4e-57 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930548H24Rik C T 5: 31,487,550 Q216* probably null Het
Acbd7 GTT GT 2: 3,340,699 probably null Het
Acp7 A T 7: 28,614,779 N330K possibly damaging Het
Adam25 A T 8: 40,755,797 H700L probably benign Het
Alg9 GGGTGG GGGTGGTGG 9: 50,775,417 probably benign Het
Atp8b3 A T 10: 80,526,236 V689E probably benign Het
Atxn2l A G 7: 126,495,891 V533A probably benign Het
C87414 A T 5: 93,636,703 C301S probably benign Het
Catsperb G A 12: 101,575,979 probably null Het
Ccdc13 T C 9: 121,814,207 K376R probably damaging Het
Ccdc170 C CCAA 10: 4,561,030 probably benign Het
Cdh9 G C 15: 16,855,830 R652P probably damaging Het
Cenpf A C 1: 189,657,386 C1416W probably damaging Het
Chga GCA GCATCA 12: 102,561,412 probably benign Het
Cyb5r4 TGTGACAGACACACTGCCCAGGGAAG TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG 9: 87,040,425 probably benign Het
Cyb5r4 CCCAGGGA CCCAGGGATGTGAGAGACACGCTGGCCAGGGA 9: 87,040,441 probably benign Het
Dennd3 T C 15: 73,547,592 I744T probably damaging Het
Dnah1 C T 14: 31,307,875 R491Q probably benign Het
Eif4a2 A T 16: 23,110,278 M188L possibly damaging Het
Esf1 CTCCTCTTC CTC 2: 140,164,374 probably benign Het
Fat3 T C 9: 15,998,617 I2030V probably benign Het
Gab3 CTT CTTTTT X: 75,000,027 probably benign Het
Gins4 A T 8: 23,227,167 V195E possibly damaging Het
Gm17402 TCCTCCTCC TCCTCCTCCCCCTCCTCC 3: 67,365,559 probably benign Het
Gm17604 CTCTCTTTC CTC X: 165,003,818 probably null Het
Gm8369 GTGTGT GTGTGTTTGTGT 19: 11,511,764 probably benign Het
Gnpnat1 T A 14: 45,383,443 probably null Het
Inpp4a A C 1: 37,388,827 N651T possibly damaging Het
Ireb2 T C 9: 54,881,484 F81L possibly damaging Het
Kcnh3 T A 15: 99,239,928 probably null Het
Kmt2b CTCCTC CTCCTCATCCTC 7: 30,586,377 probably benign Het
Kmt2c TG TGCTGTGG 5: 25,315,772 probably benign Het
Myt1 T C 2: 181,797,773 S405P probably damaging Het
Net1 T C 13: 3,887,406 T245A probably benign Het
Nkx2-1 T C 12: 56,533,547 T203A probably damaging Het
Oas3 T C 5: 120,774,100 E75G probably damaging Het
Pappa T A 4: 65,323,873 D1491E probably benign Het
Pkhd1l1 C A 15: 44,503,238 T704K probably benign Het
Pkhd1l1 TT TTTTTTTTTGT 15: 44,558,507 probably benign Het
Ppp1r8 TCTCTCAC TC 4: 132,830,617 probably benign Het
Ppp2r3c T A 12: 55,293,815 I157F probably benign Het
Rspo4 C T 2: 151,867,877 probably null Het
Rtn4 T C 11: 29,706,919 S358P possibly damaging Het
Siglecg T A 7: 43,408,864 Y58* probably null Het
Slc4a1 C T 11: 102,356,716 probably null Het
Slc9b1 CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG 3: 135,357,542 probably benign Het
Smc2 T A 4: 52,442,276 D64E probably benign Het
Spaca1 CTCGC CTCGCTATCGC 4: 34,049,853 probably benign Het
Srrm2 A G 17: 23,812,588 S236G unknown Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 probably benign Het
Strn TGCTCCCTTACCCCAGTC TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC 17: 78,677,271 probably null Het
Tfeb CAG CAGGAG 17: 47,786,113 probably benign Het
Tktl2 A T 8: 66,512,852 E354V probably benign Het
Tpte A G 8: 22,306,943 T94A probably benign Het
Usp40 A C 1: 87,967,195 S868A possibly damaging Het
Vmn2r24 G A 6: 123,806,419 C526Y probably damaging Het
Vmn2r58 CAAAATGATGTAGCACTT C 7: 41,836,959 probably null Het
Other mutations in 1700057G04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:1700057G04Rik APN 9 92350952 nonsense probably null
IGL01627:1700057G04Rik APN 9 92347811 missense probably damaging 0.99
IGL02118:1700057G04Rik APN 9 92350958 nonsense probably null
R0815:1700057G04Rik UTSW 9 92351087 missense possibly damaging 0.87
R0863:1700057G04Rik UTSW 9 92351087 missense possibly damaging 0.87
R1400:1700057G04Rik UTSW 9 92351127 missense probably benign 0.00
R3689:1700057G04Rik UTSW 9 92352620 missense probably damaging 1.00
R4280:1700057G04Rik UTSW 9 92343648 missense possibly damaging 0.92
R4789:1700057G04Rik UTSW 9 92351031 missense probably damaging 0.98
R4810:1700057G04Rik UTSW 9 92354630 missense probably damaging 1.00
R4880:1700057G04Rik UTSW 9 92354612 missense probably damaging 1.00
R4987:1700057G04Rik UTSW 9 92354584 missense probably damaging 1.00
R5427:1700057G04Rik UTSW 9 92352596 missense probably benign 0.43
R5602:1700057G04Rik UTSW 9 92352668 missense possibly damaging 0.88
R5702:1700057G04Rik UTSW 9 92343688 splice site probably null
R6992:1700057G04Rik UTSW 9 92354672 missense probably benign 0.06
R7243:1700057G04Rik UTSW 9 92343673 missense probably damaging 1.00
R8207:1700057G04Rik UTSW 9 92351008 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCTGTCATTCTAAGTAAATGAAGCC -3'
(R):5'- AGCACTGACCTTGTATTGGATC -3'

Sequencing Primer
(F):5'- AATACAAGCTCCTCCTGG -3'
(R):5'- CCACCTAATACAGCTTTACC -3'
Posted On2019-12-04