Incidental Mutation 'R8916:D130043K22Rik'
ID 678952
Institutional Source Beutler Lab
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 # R8916 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 25029118-25085253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25056254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 529 (V529I)
Ref Sequence ENSEMBL: ENSMUSP00000006893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006893] [ENSMUST00000141572]
AlphaFold Q5SZV5
Predicted Effect probably benign
Transcript: ENSMUST00000006893
AA Change: V529I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: V529I

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 benign
Transcript: ENSMUST00000141572
AA Change: V529I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711
AA Change: V529I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 A G 13: 70,941,307 (GRCm39) L360S probably damaging Het
AW554918 T C 18: 25,423,049 (GRCm39) Y167H probably damaging Het
Cdh18 A T 15: 23,410,813 (GRCm39) I433F probably damaging Het
Cenpj A T 14: 56,790,352 (GRCm39) F566I probably damaging Het
Cntn4 T A 6: 106,652,915 (GRCm39) Y795N probably damaging Het
Col4a4 C T 1: 82,501,667 (GRCm39) G362E unknown Het
Crebrf A G 17: 26,958,583 (GRCm39) T18A probably damaging Het
Dars2 T C 1: 160,881,552 (GRCm39) T326A probably benign Het
Eif4e T C 3: 138,256,043 (GRCm39) probably benign Het
Enpp2 T C 15: 54,733,722 (GRCm39) M413V possibly damaging Het
Fbn1 T C 2: 125,245,149 (GRCm39) D246G possibly damaging Het
Foxred2 A G 15: 77,837,514 (GRCm39) S241P probably damaging Het
Fras1 T C 5: 96,900,774 (GRCm39) F2998L probably damaging Het
Garin4 A G 1: 190,895,857 (GRCm39) I262T probably benign Het
Grb10 T C 11: 11,901,599 (GRCm39) T192A probably benign Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Heatr5a AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA 12: 51,934,702 (GRCm39) probably benign Het
Hinfp A T 9: 44,209,673 (GRCm39) F234I probably damaging Het
Hmcn1 A T 1: 150,649,530 (GRCm39) I652N probably damaging Het
Kif24 T C 4: 41,394,963 (GRCm39) K771E probably benign Het
Lhcgr A G 17: 89,061,170 (GRCm39) probably null Het
Lnpk A T 2: 74,358,486 (GRCm39) S358T probably benign Het
Lpcat2 A T 8: 93,596,316 (GRCm39) M118L probably benign Het
Lypd1 T A 1: 125,801,120 (GRCm39) T127S unknown Het
Mettl23 C T 11: 116,740,111 (GRCm39) T194I probably damaging Het
Mga T C 2: 119,788,819 (GRCm39) V2227A possibly damaging Het
Mus81 A T 19: 5,534,214 (GRCm39) V368E probably damaging Het
Myo3a T A 2: 22,457,704 (GRCm39) F1046I probably damaging Het
Nfia G A 4: 97,888,667 (GRCm39) V222I probably benign Het
Niban2 T A 2: 32,811,106 (GRCm39) M372K possibly damaging Het
Nop9 A G 14: 55,991,101 (GRCm39) E586G probably benign Het
Nr2e1 G A 10: 42,443,864 (GRCm39) A286V possibly damaging Het
Nup153 G A 13: 46,863,462 (GRCm39) Q300* probably null Het
Plaat1 A G 16: 29,039,259 (GRCm39) D113G possibly damaging Het
Pnp2 T C 14: 51,201,234 (GRCm39) L202P probably damaging Het
Prss3b T A 6: 41,010,103 (GRCm39) H77L probably damaging Het
Psen2 A G 1: 180,063,495 (GRCm39) F183L probably benign Het
Rint1 G T 5: 23,992,826 (GRCm39) probably benign Het
Rsf1 GGC GGCGGCGGCCGC 7: 97,229,140 (GRCm39) probably benign Het
Ryr3 C A 2: 112,608,635 (GRCm39) R2335L probably damaging Het
Scn1a T C 2: 66,108,127 (GRCm39) D1544G probably damaging Het
Sec31b A C 19: 44,520,783 (GRCm39) S175A Het
Sgcg A G 14: 61,474,341 (GRCm39) S101P probably damaging Het
Shb A T 4: 45,489,154 (GRCm39) S241T probably damaging Het
Slc47a2 A T 11: 61,193,118 (GRCm39) L545Q probably damaging Het
Spata31g1 C A 4: 42,973,034 (GRCm39) P789H probably damaging Het
Spef2 C A 15: 9,725,266 (GRCm39) E164* probably null Het
Sphkap A T 1: 83,255,108 (GRCm39) N880K possibly damaging Het
Taf2 A G 15: 54,899,931 (GRCm39) V894A probably benign Het
Tgfa T G 6: 86,248,436 (GRCm39) L146R probably damaging Het
Tlr3 C T 8: 45,856,076 (GRCm39) V35I probably benign Het
Tlr4 G A 4: 66,847,268 (GRCm39) V132I probably benign Het
Tsen34 C T 7: 3,697,340 (GRCm39) probably benign Het
Ttc13 T G 8: 125,409,976 (GRCm39) K412T probably damaging Het
Unc45b A G 11: 82,804,038 (GRCm39) I72V probably benign Het
Vmn1r195 A G 13: 22,463,139 (GRCm39) Y203C probably damaging Het
Vmn2r65 T A 7: 84,595,665 (GRCm39) T340S probably benign Het
Vmn2r88 T A 14: 51,648,593 (GRCm39) C46S Het
Ythdf2 A T 4: 131,931,830 (GRCm39) D443E probably damaging Het
Zeb2 T C 2: 44,886,796 (GRCm39) R754G probably damaging Het
Zfp236 T A 18: 82,664,351 (GRCm39) E478V probably damaging Het
Zfp287 A T 11: 62,605,136 (GRCm39) Y590* probably null Het
Zfp9 A T 6: 118,442,223 (GRCm39) C146* probably null 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
IGL02229:D130043K22Rik APN 13 25,059,907 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCCCACTCAGCATCTCAGAG -3'
(R):5'- GATGACTTGCCTGCATGACC -3'

Sequencing Primer
(F):5'- GTGGGAACATTTTGTGACTCAAAG -3'
(R):5'- GACTTGCCTGCATGACCATCTC -3'
Posted On 2021-08-02