Incidental Mutation 'IGL02229:D130043K22Rik'
ID 285437
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D130043K22Rik
Ensembl Gene ENSMUSG00000006711
Gene Name RIKEN cDNA D130043K22 gene
Synonyms Kiaa0319
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02229
Quality Score
Status
Chromosome 13
Chromosomal Location 25029118-25085253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25059907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 593 (Y593H)
Ref Sequence ENSEMBL: ENSMUSP00000116004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006893] [ENSMUST00000141572]
AlphaFold Q5SZV5
Predicted Effect probably damaging
Transcript: ENSMUST00000006893
AA Change: Y593H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: Y593H

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Blast:MANEC 23 102 3e-44 BLAST
low complexity region 236 270 N/A INTRINSIC
FN3 332 427 3.43e1 SMART
PKD 345 436 3.96e0 SMART
FN3 435 521 3.08e1 SMART
PKD 444 533 7.12e-10 SMART
PKD 539 629 1.46e-6 SMART
PKD 630 723 6.75e-11 SMART
FN3 634 711 5.1e1 SMART
FN3 728 808 9.15e1 SMART
PKD 729 820 4.38e-10 SMART
transmembrane domain 965 987 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000141572
AA Change: Y593H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711
AA Change: Y593H

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Blast:MANEC 23 102 2e-44 BLAST
low complexity region 236 270 N/A INTRINSIC
FN3 332 427 3.43e1 SMART
PKD 345 436 3.96e0 SMART
FN3 435 521 3.08e1 SMART
PKD 444 533 7.12e-10 SMART
PKD 539 629 1.46e-6 SMART
PKD 630 723 6.75e-11 SMART
FN3 634 711 5.1e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169411
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in a similar gene in human are associated with dyslexia. Alternatively spliced transcript variants have been identifed. [provided by RefSeq, May 2015]
PHENOTYPE: Homozygous knockout results in a mild behavioral phenotype: increased prepulse inhibition in males under certain conditions and decreased anxiety-related response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,055,696 (GRCm39) D144G probably damaging Het
Adgrg1 G T 8: 95,730,139 (GRCm39) D114Y probably damaging Het
Ago4 T A 4: 126,405,325 (GRCm39) N416I probably benign Het
Aoc1 C T 6: 48,882,843 (GRCm39) Q240* probably null Het
Atl1 G A 12: 69,972,799 (GRCm39) V40I probably benign Het
Cdh2 T C 18: 16,757,810 (GRCm39) I591V probably benign Het
Cic C A 7: 24,990,375 (GRCm39) Q1959K probably damaging Het
Cmya5 C T 13: 93,229,194 (GRCm39) E1965K possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspp1 T C 1: 10,153,781 (GRCm39) S397P probably damaging Het
Dck A G 5: 88,921,964 (GRCm39) Y142C probably damaging Het
Eea1 A T 10: 95,854,046 (GRCm39) E568V probably damaging Het
Gabra3 A G X: 71,544,683 (GRCm39) probably null Het
Gucy2f A G X: 140,962,984 (GRCm39) S342P probably benign Het
Hbb-bh1 T A 7: 103,492,032 (GRCm39) I61F possibly damaging Het
Hook1 T C 4: 95,889,488 (GRCm39) S235P possibly damaging Het
Hoxd12 G A 2: 74,506,278 (GRCm39) R230H probably damaging Het
Iglc2 C T 16: 19,017,483 (GRCm39) A41T probably benign Het
Il1r1 A G 1: 40,352,518 (GRCm39) K566E probably damaging Het
Kcns3 A T 12: 11,142,093 (GRCm39) M202K probably damaging Het
Krt7 C A 15: 101,325,497 (GRCm39) A442D probably benign Het
Ltk C T 2: 119,589,054 (GRCm39) R200H probably benign Het
Macf1 G T 4: 123,403,619 (GRCm39) D582E probably damaging Het
Mbnl3 A T X: 50,228,218 (GRCm39) Y69N probably damaging Het
Mpp1 T C X: 74,165,034 (GRCm39) probably benign Het
Myo18b A G 5: 113,025,976 (GRCm39) S25P unknown Het
Nsd3 A G 8: 26,200,775 (GRCm39) N1289S probably damaging Het
Or8d1 T A 9: 38,766,712 (GRCm39) M118K possibly damaging Het
Pacs2 A G 12: 113,020,420 (GRCm39) probably benign Het
Rab3gap2 A G 1: 184,991,580 (GRCm39) K689E possibly damaging Het
Sva T A 6: 42,019,156 (GRCm39) C109S probably damaging Het
Taf3 T C 2: 9,957,645 (GRCm39) N174S probably damaging Het
Tbc1d5 A T 17: 51,159,628 (GRCm39) M393K probably damaging Het
Tmem242 A T 17: 5,461,682 (GRCm39) S129T probably benign Het
Ttn A T 2: 76,701,513 (GRCm39) probably benign Het
Other mutations in D130043K22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:D130043K22Rik APN 13 25,051,157 (GRCm39) missense probably damaging 1.00
IGL01114:D130043K22Rik APN 13 25,041,139 (GRCm39) missense probably damaging 0.99
IGL01412:D130043K22Rik APN 13 25,071,843 (GRCm39) missense probably damaging 1.00
IGL01542:D130043K22Rik APN 13 25,060,020 (GRCm39) splice site probably null
IGL01615:D130043K22Rik APN 13 25,083,779 (GRCm39) missense probably damaging 1.00
IGL01705:D130043K22Rik APN 13 25,041,924 (GRCm39) missense probably benign 0.00
IGL02220:D130043K22Rik APN 13 25,067,738 (GRCm39) missense possibly damaging 0.95
IGL02576:D130043K22Rik APN 13 25,040,853 (GRCm39) missense possibly damaging 0.74
IGL03038:D130043K22Rik APN 13 25,063,602 (GRCm39) missense probably damaging 1.00
IGL03117:D130043K22Rik APN 13 25,073,825 (GRCm39) missense probably damaging 1.00
IGL03014:D130043K22Rik UTSW 13 25,042,075 (GRCm39) missense possibly damaging 0.88
R0019:D130043K22Rik UTSW 13 25,064,795 (GRCm39) missense probably damaging 1.00
R0019:D130043K22Rik UTSW 13 25,064,795 (GRCm39) missense probably damaging 1.00
R0020:D130043K22Rik UTSW 13 25,038,475 (GRCm39) utr 5 prime probably benign
R0172:D130043K22Rik UTSW 13 25,056,389 (GRCm39) missense probably benign 0.16
R0276:D130043K22Rik UTSW 13 25,042,028 (GRCm39) missense possibly damaging 0.92
R0304:D130043K22Rik UTSW 13 25,048,798 (GRCm39) missense probably benign 0.07
R0335:D130043K22Rik UTSW 13 25,071,860 (GRCm39) missense probably damaging 0.98
R0744:D130043K22Rik UTSW 13 25,047,563 (GRCm39) splice site probably benign
R0833:D130043K22Rik UTSW 13 25,047,563 (GRCm39) splice site probably benign
R0836:D130043K22Rik UTSW 13 25,047,563 (GRCm39) splice site probably benign
R1270:D130043K22Rik UTSW 13 25,041,321 (GRCm39) missense probably benign 0.00
R1433:D130043K22Rik UTSW 13 25,055,324 (GRCm39) missense probably damaging 1.00
R1682:D130043K22Rik UTSW 13 25,066,539 (GRCm39) missense probably damaging 1.00
R1772:D130043K22Rik UTSW 13 25,059,982 (GRCm39) missense probably damaging 1.00
R1773:D130043K22Rik UTSW 13 25,066,585 (GRCm39) missense possibly damaging 0.80
R1800:D130043K22Rik UTSW 13 25,067,877 (GRCm39) missense probably damaging 1.00
R1956:D130043K22Rik UTSW 13 25,069,578 (GRCm39) missense probably damaging 1.00
R2255:D130043K22Rik UTSW 13 25,040,894 (GRCm39) missense probably damaging 1.00
R2445:D130043K22Rik UTSW 13 25,041,019 (GRCm39) missense probably benign 0.04
R2568:D130043K22Rik UTSW 13 25,067,874 (GRCm39) missense probably damaging 0.97
R4160:D130043K22Rik UTSW 13 25,046,679 (GRCm39) missense probably benign 0.02
R4494:D130043K22Rik UTSW 13 25,055,339 (GRCm39) missense probably benign 0.16
R4732:D130043K22Rik UTSW 13 25,083,648 (GRCm39) missense probably damaging 1.00
R4733:D130043K22Rik UTSW 13 25,083,648 (GRCm39) missense probably damaging 1.00
R4782:D130043K22Rik UTSW 13 25,062,023 (GRCm39) missense probably damaging 1.00
R4799:D130043K22Rik UTSW 13 25,062,023 (GRCm39) missense probably damaging 1.00
R4864:D130043K22Rik UTSW 13 25,047,595 (GRCm39) missense probably damaging 1.00
R5155:D130043K22Rik UTSW 13 25,056,273 (GRCm39) missense probably damaging 1.00
R5240:D130043K22Rik UTSW 13 25,061,960 (GRCm39) missense probably damaging 1.00
R5383:D130043K22Rik UTSW 13 25,041,397 (GRCm39) missense probably benign 0.02
R5493:D130043K22Rik UTSW 13 25,047,586 (GRCm39) missense probably damaging 1.00
R6184:D130043K22Rik UTSW 13 25,069,574 (GRCm39) missense probably damaging 1.00
R6305:D130043K22Rik UTSW 13 25,069,668 (GRCm39) missense probably damaging 1.00
R6436:D130043K22Rik UTSW 13 25,061,918 (GRCm39) missense probably damaging 1.00
R6980:D130043K22Rik UTSW 13 25,048,764 (GRCm39) missense probably damaging 0.98
R7038:D130043K22Rik UTSW 13 25,077,391 (GRCm39) missense probably damaging 1.00
R7085:D130043K22Rik UTSW 13 25,056,285 (GRCm39) missense possibly damaging 0.95
R7147:D130043K22Rik UTSW 13 25,066,546 (GRCm39) missense probably benign 0.31
R7384:D130043K22Rik UTSW 13 25,066,588 (GRCm39) missense probably damaging 1.00
R7398:D130043K22Rik UTSW 13 25,077,360 (GRCm39) missense probably damaging 0.97
R7584:D130043K22Rik UTSW 13 25,056,353 (GRCm39) missense probably damaging 1.00
R7585:D130043K22Rik UTSW 13 25,069,568 (GRCm39) missense probably benign 0.01
R7588:D130043K22Rik UTSW 13 25,071,876 (GRCm39) missense probably damaging 0.99
R7610:D130043K22Rik UTSW 13 25,059,985 (GRCm39) missense probably benign 0.30
R7903:D130043K22Rik UTSW 13 25,059,995 (GRCm39) missense probably damaging 0.98
R7966:D130043K22Rik UTSW 13 25,077,406 (GRCm39) missense probably damaging 1.00
R8014:D130043K22Rik UTSW 13 25,040,685 (GRCm39) missense probably damaging 1.00
R8374:D130043K22Rik UTSW 13 25,041,962 (GRCm39) missense probably benign 0.07
R8543:D130043K22Rik UTSW 13 25,073,852 (GRCm39) missense probably benign 0.08
R8775:D130043K22Rik UTSW 13 25,040,982 (GRCm39) nonsense probably null
R8775-TAIL:D130043K22Rik UTSW 13 25,040,982 (GRCm39) nonsense probably null
R8806:D130043K22Rik UTSW 13 25,083,618 (GRCm39) missense probably benign 0.11
R8916:D130043K22Rik UTSW 13 25,056,254 (GRCm39) missense probably benign
R9209:D130043K22Rik UTSW 13 25,041,090 (GRCm39) missense possibly damaging 0.96
R9524:D130043K22Rik UTSW 13 25,071,876 (GRCm39) missense possibly damaging 0.89
R9743:D130043K22Rik UTSW 13 25,056,299 (GRCm39) missense probably damaging 0.97
Z1177:D130043K22Rik UTSW 13 25,056,231 (GRCm39) missense possibly damaging 0.79
Z1177:D130043K22Rik UTSW 13 25,040,817 (GRCm39) missense probably benign 0.39
Z1177:D130043K22Rik UTSW 13 25,040,692 (GRCm39) missense probably damaging 1.00
Z1177:D130043K22Rik UTSW 13 25,064,830 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16