Incidental Mutation 'IGL02869:C530008M17Rik'
ID362477
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C530008M17Rik
Ensembl Gene ENSMUSG00000036377
Gene NameRIKEN cDNA C530008M17 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02869
Quality Score
Status
Chromosome5
Chromosomal Location76656512-76873554 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76859043 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1084 (K1084E)
Ref Sequence ENSEMBL: ENSMUSP00000127212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120639] [ENSMUST00000121160] [ENSMUST00000163347]
Predicted Effect unknown
Transcript: ENSMUST00000120639
AA Change: K1084E
SMART Domains Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: K1084E

DomainStartEndE-ValueType
Pfam:DUF4592 44 173 1.7e-45 PFAM
low complexity region 210 220 N/A INTRINSIC
coiled coil region 224 291 N/A INTRINSIC
coiled coil region 328 482 N/A INTRINSIC
low complexity region 533 547 N/A INTRINSIC
low complexity region 580 593 N/A INTRINSIC
low complexity region 875 888 N/A INTRINSIC
internal_repeat_1 947 1025 1.47e-5 PROSPERO
low complexity region 1034 1047 N/A INTRINSIC
internal_repeat_1 1065 1122 1.47e-5 PROSPERO
low complexity region 1268 1280 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000121160
AA Change: K1084E
SMART Domains Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: K1084E

DomainStartEndE-ValueType
Pfam:DUF4592 45 172 1.8e-41 PFAM
low complexity region 210 220 N/A INTRINSIC
coiled coil region 224 291 N/A INTRINSIC
coiled coil region 328 482 N/A INTRINSIC
low complexity region 533 547 N/A INTRINSIC
low complexity region 580 593 N/A INTRINSIC
low complexity region 875 888 N/A INTRINSIC
low complexity region 1034 1047 N/A INTRINSIC
low complexity region 1271 1283 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152373
Predicted Effect unknown
Transcript: ENSMUST00000163347
AA Change: K1084E
SMART Domains Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: K1084E

DomainStartEndE-ValueType
Pfam:DUF4592 44 173 1.7e-45 PFAM
low complexity region 210 220 N/A INTRINSIC
coiled coil region 224 291 N/A INTRINSIC
coiled coil region 328 482 N/A INTRINSIC
low complexity region 533 547 N/A INTRINSIC
low complexity region 580 593 N/A INTRINSIC
low complexity region 875 888 N/A INTRINSIC
internal_repeat_1 947 1025 1.47e-5 PROSPERO
low complexity region 1034 1047 N/A INTRINSIC
internal_repeat_1 1065 1122 1.47e-5 PROSPERO
low complexity region 1268 1280 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,867,459 S1142T possibly damaging Het
5330417C22Rik A G 3: 108,472,866 I309T probably benign Het
Actr3b T G 5: 25,832,435 V215G probably damaging Het
Adam9 C T 8: 24,970,618 V617M probably damaging Het
Adgrl2 G T 3: 148,890,605 P32T probably damaging Het
Ago3 A T 4: 126,367,787 probably benign Het
Allc A C 12: 28,573,207 I20M probably benign Het
Asic3 G A 5: 24,416,974 W361* probably null Het
Atf7ip A G 6: 136,606,579 K1203E probably damaging Het
Babam2 C A 5: 32,004,772 H272Q possibly damaging Het
Baz2b G A 2: 59,977,528 T129I probably benign Het
C130073F10Rik A T 4: 101,890,393 Y146* probably null Het
Cd247 A G 1: 165,857,417 E74G probably damaging Het
Cdh17 A T 4: 11,814,908 Q778L probably benign Het
Ceacam1 T C 7: 25,476,541 D76G probably benign Het
Cela3a T C 4: 137,403,834 K198E probably benign Het
Ces2a T A 8: 104,739,059 D281E probably damaging Het
Cetn2 A T X: 72,914,921 D116E probably damaging Het
Ctu2 G T 8: 122,478,791 probably null Het
Cybb T C X: 9,442,589 N469D probably benign Het
Cygb C T 11: 116,649,923 R79Q probably damaging Het
Cyp2d10 C T 15: 82,403,868 V186M possibly damaging Het
Defb29 T A 2: 152,539,022 probably null Het
Depdc7 T G 2: 104,730,349 Q100P probably damaging Het
Dhx30 A C 9: 110,097,183 I91R probably damaging Het
Dnm1l T A 16: 16,341,424 K105* probably null Het
Efhc1 T C 1: 20,967,343 I248T probably damaging Het
Entpd2 A G 2: 25,398,108 T115A probably damaging Het
Epb42 G T 2: 121,025,746 A439E probably benign Het
Epp13 T C 7: 6,269,899 probably benign Het
Esm1 T G 13: 113,210,084 L81R probably damaging Het
F8 T C X: 75,287,381 S968G probably benign Het
Fam234b T G 6: 135,225,203 Y308D probably damaging Het
Fbxo46 T G 7: 19,137,214 V586G probably damaging Het
Foxp1 C A 6: 98,930,083 probably benign Het
Gm10754 A T 10: 97,682,274 probably benign Het
Gm12355 T A 11: 98,625,320 R76* probably null Het
Gm12695 A C 4: 96,762,133 probably benign Het
Gm438 T C 4: 144,786,368 I54V probably benign Het
Gm5468 T C 15: 25,414,640 probably benign Het
Grhl1 T C 12: 24,581,491 S66P probably damaging Het
Gstt3 A T 10: 75,776,742 probably null Het
Gtf2i A G 5: 134,279,427 probably benign Het
Gzmk C A 13: 113,172,026 G175C probably damaging Het
Helz2 T C 2: 181,231,146 probably benign Het
Ift20 T C 11: 78,539,954 probably benign Het
Intu A G 3: 40,687,786 D491G probably damaging Het
Itch G T 2: 155,173,933 probably null Het
Itgb5 A G 16: 33,844,992 N26S possibly damaging Het
Lama2 A T 10: 27,015,538 S2526R probably damaging Het
Lat2 A G 5: 134,608,173 I40T probably damaging Het
Lipa T A 19: 34,493,997 M393L probably benign Het
Lipa G T 19: 34,493,971 probably benign Het
Lpcat1 T A 13: 73,484,298 L10H probably damaging Het
Lpcat3 T C 6: 124,703,007 Y348H possibly damaging Het
Lrp1b A T 2: 40,701,830 N50K unknown Het
Lrrk2 T A 15: 91,750,277 Y1415N probably damaging Het
Lsamp A T 16: 42,144,715 T312S probably benign Het
Man2a2 T C 7: 80,363,941 E454G probably benign Het
Mcm3 T C 1: 20,808,839 K570R probably damaging Het
Mctp2 C A 7: 72,228,471 probably null Het
Msantd2 T G 9: 37,523,500 C345W probably damaging Het
Musk T C 4: 58,354,078 I362T probably benign Het
Myh15 A T 16: 49,145,404 N1224I probably benign Het
Myo18a A G 11: 77,864,786 Y1983C probably damaging Het
Myo18a C T 11: 77,829,873 probably benign Het
Myrfl G T 10: 116,829,004 Q374K probably damaging Het
Ndrg1 T A 15: 66,946,497 Q87H probably benign Het
Nol9 G A 4: 152,046,573 C351Y probably damaging Het
Nr5a1 A G 2: 38,708,129 S219P probably benign Het
Olfr902 T C 9: 38,449,193 F107S possibly damaging Het
Olfr945 A T 9: 39,258,224 Y149* probably null Het
Pcdhb19 A G 18: 37,498,637 D495G probably damaging Het
Pfkm A G 15: 98,128,242 M573V probably damaging Het
Plec A T 15: 76,181,316 L1586Q probably damaging Het
Prelp C A 1: 133,915,267 E47* probably null Het
Rbm33 T A 5: 28,410,755 I32N probably damaging Het
Rgs12 A T 5: 35,025,883 D310V probably damaging Het
Ripor2 A C 13: 24,696,529 H404P possibly damaging Het
Sh3d21 T C 4: 126,162,241 E124G probably benign Het
Shroom2 C T X: 152,659,553 S872N probably benign Het
Slc44a5 A G 3: 154,251,014 Y301C probably damaging Het
Smap1 A T 1: 23,891,914 H66Q possibly damaging Het
Smyd1 G T 6: 71,221,023 probably benign Het
Spata5 G T 3: 37,464,545 G743W probably damaging Het
Sptbn4 T A 7: 27,394,148 probably benign Het
Stag3 A G 5: 138,282,693 K49R probably damaging Het
Stim1 C A 7: 102,268,551 A46E unknown Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tbc1d19 A G 5: 53,835,217 T114A probably benign Het
Tln2 G A 9: 67,221,525 probably benign Het
Tmem2 T A 19: 21,811,877 D558E probably damaging Het
Trmt10a T A 3: 138,152,184 probably null Het
Vwde G A 6: 13,187,137 H784Y probably damaging Het
Zfp773 T C 7: 7,134,233 T121A probably benign Het
Other mutations in C530008M17Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:C530008M17Rik APN 5 76866056 unclassified probably benign
IGL00660:C530008M17Rik APN 5 76854933 critical splice acceptor site probably null
IGL00924:C530008M17Rik APN 5 76858986 missense unknown
IGL01025:C530008M17Rik APN 5 76658074 intron probably benign
IGL01122:C530008M17Rik APN 5 76870675 makesense probably null
IGL01393:C530008M17Rik APN 5 76858971 missense unknown
IGL01526:C530008M17Rik APN 5 76857631 missense unknown
IGL01986:C530008M17Rik APN 5 76858610 missense unknown
IGL02009:C530008M17Rik APN 5 76848970 missense possibly damaging 0.61
IGL02724:C530008M17Rik APN 5 76858459 missense unknown
IGL03030:C530008M17Rik APN 5 76857616 missense unknown
IGL03150:C530008M17Rik APN 5 76867250 missense probably damaging 0.99
LCD18:C530008M17Rik UTSW 5 76658742 intron probably benign
R0975:C530008M17Rik UTSW 5 76856318 splice site probably benign
R1329:C530008M17Rik UTSW 5 76657932 intron probably benign
R1439:C530008M17Rik UTSW 5 76840910 missense probably damaging 0.99
R1750:C530008M17Rik UTSW 5 76857675 missense unknown
R1773:C530008M17Rik UTSW 5 76867205 missense possibly damaging 0.54
R1885:C530008M17Rik UTSW 5 76856742 missense unknown
R1924:C530008M17Rik UTSW 5 76858623 missense unknown
R2483:C530008M17Rik UTSW 5 76856409 missense probably damaging 0.98
R3840:C530008M17Rik UTSW 5 76859011 missense unknown
R3841:C530008M17Rik UTSW 5 76859011 missense unknown
R3874:C530008M17Rik UTSW 5 76840892 missense probably damaging 1.00
R3883:C530008M17Rik UTSW 5 76856574 missense unknown
R4033:C530008M17Rik UTSW 5 76858465 missense unknown
R4401:C530008M17Rik UTSW 5 76848916 missense probably damaging 0.98
R4749:C530008M17Rik UTSW 5 76858834 missense unknown
R4884:C530008M17Rik UTSW 5 76848835 missense probably damaging 1.00
R4980:C530008M17Rik UTSW 5 76857574 missense unknown
R5010:C530008M17Rik UTSW 5 76657834 utr 5 prime probably benign
R5086:C530008M17Rik UTSW 5 76857124 missense unknown
R5468:C530008M17Rik UTSW 5 76840763 intron probably benign
R5786:C530008M17Rik UTSW 5 76866196 splice site probably null
R5813:C530008M17Rik UTSW 5 76858428 missense unknown
R5866:C530008M17Rik UTSW 5 76857537 missense unknown
R5928:C530008M17Rik UTSW 5 76841734 intron probably benign
R6273:C530008M17Rik UTSW 5 76857721 missense unknown
R6577:C530008M17Rik UTSW 5 76866100 unclassified probably benign
R6838:C530008M17Rik UTSW 5 76858209 missense unknown
R6849:C530008M17Rik UTSW 5 76857010 missense unknown
R6849:C530008M17Rik UTSW 5 76857157 missense unknown
R6914:C530008M17Rik UTSW 5 76857007 missense unknown
R7017:C530008M17Rik UTSW 5 76856948 small deletion probably benign
R7094:C530008M17Rik UTSW 5 76859032 missense unknown
R7367:C530008M17Rik UTSW 5 76856602 missense unknown
R7394:C530008M17Rik UTSW 5 76856954 small deletion probably benign
R7436:C530008M17Rik UTSW 5 76856954 small deletion probably benign
R7443:C530008M17Rik UTSW 5 76856638 missense unknown
R7500:C530008M17Rik UTSW 5 76658058 missense unknown
R7566:C530008M17Rik UTSW 5 76866275 intron probably null
R7633:C530008M17Rik UTSW 5 76857520 missense unknown
R7728:C530008M17Rik UTSW 5 76857469 missense unknown
Posted On2015-12-18