Incidental Mutation 'IGL02143:1700019N19Rik'
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ID281687
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700019N19Rik
Ensembl Gene ENSMUSG00000026931
Gene NameRIKEN cDNA 1700019N19 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02143
Quality Score
Status
Chromosome19
Chromosomal Location58785803-58794461 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 58789252 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 34 (R34L)
Ref Sequence ENSEMBL: ENSMUSP00000126241 (fasta)
Gene Model
Predicted Effect possibly damaging
Transcript: ENSMUST00000028299
AA Change: R42L

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165577
Predicted Effect possibly damaging
Transcript: ENSMUST00000166692
AA Change: R34L

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,365,213 M1T probably null Het
Ager G A 17: 34,599,118 G183E probably damaging Het
Alcam C A 16: 52,305,619 V112L probably damaging Het
Amot T A X: 145,487,028 Q204H probably damaging Het
Ankar C T 1: 72,658,649 probably null Het
Armc9 A G 1: 86,176,865 M279V possibly damaging Het
Bpifb1 C T 2: 154,209,929 T218I probably benign Het
Cacna1f A C X: 7,613,995 Het
Cacna2d2 T C 9: 107,518,275 probably null Het
Ccdc57 A T 11: 120,861,243 C837* probably null Het
Ctbp2 G A 7: 132,991,156 A808V probably damaging Het
Dcbld2 T C 16: 58,448,526 probably null Het
Dis3 T C 14: 99,091,318 probably benign Het
Disp2 T C 2: 118,789,969 F394S probably damaging Het
Dnah1 T C 14: 31,283,289 N2336S probably damaging Het
Drap1 C A 19: 5,423,843 L66F probably damaging Het
Eif5a2 C T 3: 28,793,739 R109C probably benign Het
Enpp1 A T 10: 24,677,974 D105E probably damaging Het
Evi5l G A 8: 4,191,293 M275I probably damaging Het
Flt1 T C 5: 147,578,436 T1059A probably benign Het
Fndc3c1 T C X: 106,472,734 Het
Git1 T C 11: 77,505,987 V645A possibly damaging Het
Gm7735 T A 16: 89,169,549 C20* probably null Het
Ighv1-42 G T 12: 114,937,286 P60T probably benign Het
Jakmip2 A T 18: 43,563,285 L533Q probably damaging Het
Kdm2b C T 5: 122,947,835 E238K probably damaging Het
Lpin2 T C 17: 71,243,926 S694P probably damaging Het
Mab21l2 C T 3: 86,547,255 R146Q possibly damaging Het
Mmp1b A T 9: 7,386,400 S174T probably benign Het
Neb T C 2: 52,291,199 Y1132C probably damaging Het
Nhsl1 A T 10: 18,511,635 H219L possibly damaging Het
Nwd2 T A 5: 63,791,653 probably null Het
Obp1a A C X: 78,090,843 M18R possibly damaging Het
Olfr525 A T 7: 140,323,592 K298* probably null Het
Olfr695 T C 7: 106,873,973 T91A probably benign Het
Pabpc5 T A X: 119,927,991 M1K probably null Het
Paxip1 A G 5: 27,775,598 probably benign Het
Perm1 A G 4: 156,218,043 E348G probably benign Het
Pfkfb1 T C X: 150,622,142 F170L probably damaging Het
Pou3f3 A G 1: 42,698,526 M461V probably benign Het
Ppfia2 G A 10: 106,857,499 D622N probably damaging Het
Prtg T G 9: 72,892,324 S801R probably damaging Het
Rars2 T A 4: 34,623,404 Het
Rasal1 A G 5: 120,652,852 D35G probably damaging Het
Repin1 T A 6: 48,597,121 L272Q probably damaging Het
Stk36 T C 1: 74,616,569 probably benign Het
Tbxa2r A G 10: 81,334,486 T269A probably benign Het
Tmem132c G A 5: 127,563,402 R879Q probably benign Het
Vmn1r78 C A 7: 12,152,480 A6E probably benign Het
Vps45 T C 3: 96,019,646 I530V probably benign Het
Vps45 A T 3: 96,033,821 N369K probably benign Het
Zkscan16 G A 4: 58,956,911 G398R probably damaging Het
Other mutations in 1700019N19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02976:1700019N19Rik APN 19 58789120 missense probably benign 0.02
ANU05:1700019N19Rik UTSW 19 58789113 missense probably damaging 1.00
R0001:1700019N19Rik UTSW 19 58789171 missense probably damaging 0.98
R0894:1700019N19Rik UTSW 19 58787583 missense probably damaging 1.00
R1725:1700019N19Rik UTSW 19 58792762 missense probably benign 0.21
R3962:1700019N19Rik UTSW 19 58789109 missense probably damaging 1.00
R5089:1700019N19Rik UTSW 19 58786246 missense probably damaging 1.00
X0012:1700019N19Rik UTSW 19 58786087 missense probably benign 0.15
Posted On2015-04-16