Incidental Mutation 'R7588:D130043K22Rik'
ID 587276
Institutional Source Beutler Lab
Gene Symbol D130043K22Rik
Ensembl Gene ENSMUSG00000006711
Gene Name RIKEN cDNA D130043K22 gene
Synonyms Kiaa0319
MMRRC Submission 045636-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7588 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 25029118-25085253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25071876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 940 (I940N)
Ref Sequence ENSEMBL: ENSMUSP00000006893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006893] [ENSMUST00000141572]
AlphaFold Q5SZV5
Predicted Effect probably damaging
Transcript: ENSMUST00000006893
AA Change: I940N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: I940N

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
SMART Domains Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711

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: 99.7%
  • 20x: 98.9%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2b1 T A 11: 83,215,348 (GRCm39) D97E probably benign Het
Apbb1 G T 7: 105,223,173 (GRCm39) P146Q probably benign Het
Aste1 T A 9: 105,274,590 (GRCm39) S277T possibly damaging Het
Bnip5 T C 17: 29,124,430 (GRCm39) K291E probably benign Het
Cdk15 A G 1: 59,383,458 (GRCm39) D415G possibly damaging Het
Cep152 T A 2: 125,411,546 (GRCm39) E1256D probably damaging Het
Chd7 A G 4: 8,864,039 (GRCm39) N2643S probably damaging Het
Copg2 A G 6: 30,788,526 (GRCm39) probably null Het
Dnmt3a A G 12: 3,946,080 (GRCm39) T312A possibly damaging Het
Dock5 A G 14: 68,000,607 (GRCm39) probably null Het
Fam83g A T 11: 61,575,522 (GRCm39) I55F probably damaging Het
Fanci T C 7: 79,084,017 (GRCm39) F780L possibly damaging Het
Fhod3 G T 18: 25,223,305 (GRCm39) A884S probably benign Het
Gas6 T C 8: 13,516,711 (GRCm39) S596G probably benign Het
Gns T C 10: 121,226,563 (GRCm39) V404A probably benign Het
Gpatch1 T C 7: 34,991,173 (GRCm39) N624D probably damaging Het
Hmcn1 T C 1: 150,532,885 (GRCm39) I3099M possibly damaging Het
Itga1 A T 13: 115,104,785 (GRCm39) S1080R possibly damaging Het
Kcnk15 T C 2: 163,700,226 (GRCm39) V155A probably damaging Het
Luzp2 T A 7: 54,724,838 (GRCm39) probably null Het
Mapk8ip1 T A 2: 92,216,984 (GRCm39) D446V possibly damaging Het
Med1 T C 11: 98,046,398 (GRCm39) E1466G unknown Het
Mug1 A G 6: 121,852,476 (GRCm39) R855G probably damaging Het
Naalad2 C A 9: 18,262,775 (GRCm39) V374F probably damaging Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Nlrp5 A G 7: 23,107,576 (GRCm39) E83G probably benign Het
Nod2 T C 8: 89,401,536 (GRCm39) F901S possibly damaging Het
Nps T C 7: 134,870,508 (GRCm39) V10A probably benign Het
Pbrm1 T A 14: 30,806,900 (GRCm39) V1109E probably damaging Het
Pcdh7 A G 5: 57,877,246 (GRCm39) D267G probably damaging Het
Pfkp A G 13: 6,698,673 (GRCm39) Y15H possibly damaging Het
Pgap6 T C 17: 26,341,017 (GRCm39) Y176H probably damaging Het
Ppm1b T C 17: 85,320,997 (GRCm39) S380P probably benign Het
Psg21 T C 7: 18,381,134 (GRCm39) N470D probably benign Het
Qrich2 T C 11: 116,356,763 (GRCm39) N29D possibly damaging Het
Reln T C 5: 22,090,566 (GRCm39) T3431A probably benign Het
Rfc1 A G 5: 65,429,850 (GRCm39) V852A probably damaging Het
Rttn T G 18: 89,082,353 (GRCm39) D1426E probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Styxl1 G A 5: 135,799,130 (GRCm39) P28L probably damaging Het
Tcl1b4 A G 12: 105,168,641 (GRCm39) probably benign Het
Trav17 A G 14: 54,044,302 (GRCm39) D24G probably benign Het
Trim28 A C 7: 12,763,347 (GRCm39) D496A probably damaging Het
Trim29 T C 9: 43,246,425 (GRCm39) Y574H probably damaging Het
Trip12 G T 1: 84,738,604 (GRCm39) F750L probably damaging Het
Ubr3 C A 2: 69,801,513 (GRCm39) T1007K probably damaging Het
Zzz3 A G 3: 152,128,405 (GRCm39) Y7C possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TCCTGATGAGCTCGTAGGTG -3'
(R):5'- CTTGGCTTCAGGAAAGAATGC -3'

Sequencing Primer
(F):5'- GAACTCACTTTGTAGACCAGGCTG -3'
(R):5'- AAAGAATGCTGTTGGATGGCTC -3'
Posted On 2019-10-24