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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02229
Quality Score
Status
Chromosome 13
Chromosomal Location 24845135-24901270 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24875924 bp (GRCm38)
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: 63,898,353 (GRCm38) D144G probably damaging Het
Adgrg1 G T 8: 95,003,511 (GRCm38) D114Y probably damaging Het
Ago4 T A 4: 126,511,532 (GRCm38) N416I probably benign Het
Aoc1 C T 6: 48,905,909 (GRCm38) Q240* probably null Het
Atl1 G A 12: 69,926,025 (GRCm38) V40I probably benign Het
Cdh2 T C 18: 16,624,753 (GRCm38) I591V probably benign Het
Cic C A 7: 25,290,950 (GRCm38) Q1959K probably damaging Het
Cmya5 C T 13: 93,092,686 (GRCm38) E1965K possibly damaging Het
Csgalnact1 C A 8: 68,401,492 (GRCm38) G219V probably damaging Het
Cspp1 T C 1: 10,083,556 (GRCm38) S397P probably damaging Het
Dck A G 5: 88,774,105 (GRCm38) Y142C probably damaging Het
Eea1 A T 10: 96,018,184 (GRCm38) E568V probably damaging Het
Gabra3 A G X: 72,501,077 (GRCm38) probably null Het
Gucy2f A G X: 142,179,988 (GRCm38) S342P probably benign Het
Hbb-bh1 T A 7: 103,842,825 (GRCm38) I61F possibly damaging Het
Hook1 T C 4: 96,001,251 (GRCm38) S235P possibly damaging Het
Hoxd12 G A 2: 74,675,934 (GRCm38) R230H probably damaging Het
Iglc2 C T 16: 19,198,733 (GRCm38) A41T probably benign Het
Il1r1 A G 1: 40,313,358 (GRCm38) K566E probably damaging Het
Kcns3 A T 12: 11,092,092 (GRCm38) M202K probably damaging Het
Krt7 C A 15: 101,427,616 (GRCm38) A442D probably benign Het
Ltk C T 2: 119,758,573 (GRCm38) R200H probably benign Het
Macf1 G T 4: 123,509,826 (GRCm38) D582E probably damaging Het
Mbnl3 A T X: 51,139,341 (GRCm38) Y69N probably damaging Het
Mpp1 T C X: 75,121,428 (GRCm38) probably benign Het
Myo18b A G 5: 112,878,110 (GRCm38) S25P unknown Het
Nsd3 A G 8: 25,710,748 (GRCm38) N1289S probably damaging Het
Olfr26 T A 9: 38,855,416 (GRCm38) M118K possibly damaging Het
Pacs2 A G 12: 113,056,800 (GRCm38) probably benign Het
Rab3gap2 A G 1: 185,259,383 (GRCm38) K689E possibly damaging Het
Sva T A 6: 42,042,222 (GRCm38) C109S probably damaging Het
Taf3 T C 2: 9,952,834 (GRCm38) N174S probably damaging Het
Tbc1d5 A T 17: 50,852,600 (GRCm38) M393K probably damaging Het
Tmem242 A T 17: 5,411,407 (GRCm38) S129T probably benign Het
Ttn A T 2: 76,871,169 (GRCm38) probably benign Het
Other mutations in D130043K22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:D130043K22Rik APN 13 24,867,174 (GRCm38) missense probably damaging 1.00
IGL01114:D130043K22Rik APN 13 24,857,156 (GRCm38) missense probably damaging 0.99
IGL01412:D130043K22Rik APN 13 24,887,860 (GRCm38) missense probably damaging 1.00
IGL01542:D130043K22Rik APN 13 24,876,037 (GRCm38) splice site probably null
IGL01615:D130043K22Rik APN 13 24,899,796 (GRCm38) missense probably damaging 1.00
IGL01705:D130043K22Rik APN 13 24,857,941 (GRCm38) missense probably benign 0.00
IGL02220:D130043K22Rik APN 13 24,883,755 (GRCm38) missense possibly damaging 0.95
IGL02576:D130043K22Rik APN 13 24,856,870 (GRCm38) missense possibly damaging 0.74
IGL03038:D130043K22Rik APN 13 24,879,619 (GRCm38) missense probably damaging 1.00
IGL03117:D130043K22Rik APN 13 24,889,842 (GRCm38) missense probably damaging 1.00
IGL03014:D130043K22Rik UTSW 13 24,858,092 (GRCm38) missense possibly damaging 0.88
R0019:D130043K22Rik UTSW 13 24,880,812 (GRCm38) missense probably damaging 1.00
R0019:D130043K22Rik UTSW 13 24,880,812 (GRCm38) missense probably damaging 1.00
R0020:D130043K22Rik UTSW 13 24,854,492 (GRCm38) utr 5 prime probably benign
R0172:D130043K22Rik UTSW 13 24,872,406 (GRCm38) missense probably benign 0.16
R0276:D130043K22Rik UTSW 13 24,858,045 (GRCm38) missense possibly damaging 0.92
R0304:D130043K22Rik UTSW 13 24,864,815 (GRCm38) missense probably benign 0.07
R0335:D130043K22Rik UTSW 13 24,887,877 (GRCm38) missense probably damaging 0.98
R0744:D130043K22Rik UTSW 13 24,863,580 (GRCm38) splice site probably benign
R0833:D130043K22Rik UTSW 13 24,863,580 (GRCm38) splice site probably benign
R0836:D130043K22Rik UTSW 13 24,863,580 (GRCm38) splice site probably benign
R1270:D130043K22Rik UTSW 13 24,857,338 (GRCm38) missense probably benign 0.00
R1433:D130043K22Rik UTSW 13 24,871,341 (GRCm38) missense probably damaging 1.00
R1682:D130043K22Rik UTSW 13 24,882,556 (GRCm38) missense probably damaging 1.00
R1772:D130043K22Rik UTSW 13 24,875,999 (GRCm38) missense probably damaging 1.00
R1773:D130043K22Rik UTSW 13 24,882,602 (GRCm38) missense possibly damaging 0.80
R1800:D130043K22Rik UTSW 13 24,883,894 (GRCm38) missense probably damaging 1.00
R1956:D130043K22Rik UTSW 13 24,885,595 (GRCm38) missense probably damaging 1.00
R2255:D130043K22Rik UTSW 13 24,856,911 (GRCm38) missense probably damaging 1.00
R2445:D130043K22Rik UTSW 13 24,857,036 (GRCm38) missense probably benign 0.04
R2568:D130043K22Rik UTSW 13 24,883,891 (GRCm38) missense probably damaging 0.97
R4160:D130043K22Rik UTSW 13 24,862,696 (GRCm38) missense probably benign 0.02
R4494:D130043K22Rik UTSW 13 24,871,356 (GRCm38) missense probably benign 0.16
R4732:D130043K22Rik UTSW 13 24,899,665 (GRCm38) missense probably damaging 1.00
R4733:D130043K22Rik UTSW 13 24,899,665 (GRCm38) missense probably damaging 1.00
R4782:D130043K22Rik UTSW 13 24,878,040 (GRCm38) missense probably damaging 1.00
R4799:D130043K22Rik UTSW 13 24,878,040 (GRCm38) missense probably damaging 1.00
R4864:D130043K22Rik UTSW 13 24,863,612 (GRCm38) missense probably damaging 1.00
R5155:D130043K22Rik UTSW 13 24,872,290 (GRCm38) missense probably damaging 1.00
R5240:D130043K22Rik UTSW 13 24,877,977 (GRCm38) missense probably damaging 1.00
R5383:D130043K22Rik UTSW 13 24,857,414 (GRCm38) missense probably benign 0.02
R5493:D130043K22Rik UTSW 13 24,863,603 (GRCm38) missense probably damaging 1.00
R6184:D130043K22Rik UTSW 13 24,885,591 (GRCm38) missense probably damaging 1.00
R6305:D130043K22Rik UTSW 13 24,885,685 (GRCm38) missense probably damaging 1.00
R6436:D130043K22Rik UTSW 13 24,877,935 (GRCm38) missense probably damaging 1.00
R6980:D130043K22Rik UTSW 13 24,864,781 (GRCm38) missense probably damaging 0.98
R7038:D130043K22Rik UTSW 13 24,893,408 (GRCm38) missense probably damaging 1.00
R7085:D130043K22Rik UTSW 13 24,872,302 (GRCm38) missense possibly damaging 0.95
R7147:D130043K22Rik UTSW 13 24,882,563 (GRCm38) missense probably benign 0.31
R7384:D130043K22Rik UTSW 13 24,882,605 (GRCm38) missense probably damaging 1.00
R7398:D130043K22Rik UTSW 13 24,893,377 (GRCm38) missense probably damaging 0.97
R7584:D130043K22Rik UTSW 13 24,872,370 (GRCm38) missense probably damaging 1.00
R7585:D130043K22Rik UTSW 13 24,885,585 (GRCm38) missense probably benign 0.01
R7588:D130043K22Rik UTSW 13 24,887,893 (GRCm38) missense probably damaging 0.99
R7610:D130043K22Rik UTSW 13 24,876,002 (GRCm38) missense probably benign 0.30
R7903:D130043K22Rik UTSW 13 24,876,012 (GRCm38) missense probably damaging 0.98
R7966:D130043K22Rik UTSW 13 24,893,423 (GRCm38) missense probably damaging 1.00
R8014:D130043K22Rik UTSW 13 24,856,702 (GRCm38) missense probably damaging 1.00
R8374:D130043K22Rik UTSW 13 24,857,979 (GRCm38) missense probably benign 0.07
R8543:D130043K22Rik UTSW 13 24,889,869 (GRCm38) missense probably benign 0.08
R8775:D130043K22Rik UTSW 13 24,856,999 (GRCm38) nonsense probably null
R8775-TAIL:D130043K22Rik UTSW 13 24,856,999 (GRCm38) nonsense probably null
R8806:D130043K22Rik UTSW 13 24,899,635 (GRCm38) missense probably benign 0.11
R8916:D130043K22Rik UTSW 13 24,872,271 (GRCm38) missense probably benign
R9209:D130043K22Rik UTSW 13 24,857,107 (GRCm38) missense possibly damaging 0.96
R9524:D130043K22Rik UTSW 13 24,887,893 (GRCm38) missense possibly damaging 0.89
R9743:D130043K22Rik UTSW 13 24,872,316 (GRCm38) missense probably damaging 0.97
Z1177:D130043K22Rik UTSW 13 24,872,248 (GRCm38) missense possibly damaging 0.79
Z1177:D130043K22Rik UTSW 13 24,856,834 (GRCm38) missense probably benign 0.39
Z1177:D130043K22Rik UTSW 13 24,856,709 (GRCm38) missense probably damaging 1.00
Z1177:D130043K22Rik UTSW 13 24,880,847 (GRCm38) missense probably damaging 1.00
Posted On 2015-04-16