Incidental Mutation 'R8374:D130043K22Rik'
ID 646589
Institutional Source Beutler Lab
Gene Symbol D130043K22Rik
Ensembl Gene ENSMUSG00000006711
Gene Name RIKEN cDNA D130043K22 gene
Synonyms Kiaa0319
MMRRC Submission 067742-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8374 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 25029118-25085253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25041962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 297 (T297K)
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: T297K

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: T297K

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: T297K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711
AA Change: T297K

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: 99.8%
  • 20x: 99.5%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 C T 9: 30,814,002 (GRCm39) G721E probably benign Het
Aip A T 19: 4,165,456 (GRCm39) M170K probably damaging Het
Alms1 T C 6: 85,585,973 (GRCm39) I276T probably benign Het
Arid1b C T 17: 5,392,919 (GRCm39) P2097S possibly damaging Het
Astn1 T G 1: 158,329,803 (GRCm39) N219K probably damaging Het
Cbx2 G T 11: 118,918,969 (GRCm39) R178L probably damaging Het
Clptm1 G A 7: 19,372,081 (GRCm39) P252S probably benign Het
Crebbp A G 16: 3,902,175 (GRCm39) S2355P probably damaging Het
Ddx60 A G 8: 62,427,205 (GRCm39) D760G probably benign Het
Dgka T C 10: 128,557,112 (GRCm39) N621S probably benign Het
Ear10 A T 14: 44,160,645 (GRCm39) C61S probably damaging Het
F12 A T 13: 55,569,144 (GRCm39) C238S probably damaging Het
Fen1 A G 19: 10,177,824 (GRCm39) F207L probably benign Het
Fzr1 A G 10: 81,203,368 (GRCm39) L486P probably damaging Het
Gdnf A G 15: 7,864,176 (GRCm39) R196G probably benign Het
Gldc A C 19: 30,114,594 (GRCm39) F439V probably damaging Het
Gm3138 T C 14: 4,251,688 (GRCm38) M120T probably damaging Het
Gpi1 G A 7: 33,920,082 (GRCm39) A197V probably benign Het
Ighv1-4 T A 12: 114,450,899 (GRCm39) I70F probably benign Het
Il19 A T 1: 130,866,893 (GRCm39) L29Q probably damaging Het
Kank1 A T 19: 25,389,005 (GRCm39) I893F probably damaging Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Kif13b T C 14: 65,025,884 (GRCm39) S1414P probably damaging Het
Miga2 AAGAG AAG 2: 30,265,755 (GRCm39) probably null Het
Mosmo T A 7: 120,329,715 (GRCm39) M112K probably benign Het
Ntmt2 A T 1: 163,530,617 (GRCm39) M274K probably damaging Het
Or2d2b A G 7: 106,706,033 (GRCm39) F12L probably damaging Het
Or2h1b C A 17: 37,462,636 (GRCm39) V76F probably damaging Het
Or2w3b T A 11: 58,623,724 (GRCm39) D89V probably damaging Het
Pak6 G A 2: 118,524,477 (GRCm39) V497I probably benign Het
Ppargc1b G A 18: 61,443,564 (GRCm39) S549F probably damaging Het
Rassf8 T A 6: 145,760,863 (GRCm39) L63* probably null Het
Rptn G T 3: 93,303,602 (GRCm39) G312* probably null Het
Rsph14 T C 10: 74,797,481 (GRCm39) I169V probably benign Het
Sltm A G 9: 70,469,227 (GRCm39) D162G probably null Het
Tatdn1 C T 15: 58,788,000 (GRCm39) probably null Het
Tbx4 A C 11: 85,805,102 (GRCm39) E397A probably benign Het
Tdrd12 T C 7: 35,177,486 (GRCm39) D956G unknown Het
Tnr G A 1: 159,685,953 (GRCm39) V395I probably benign Het
Ugt1a2 A T 1: 88,129,107 (GRCm39) H250L possibly damaging Het
Vmn1r173 C T 7: 23,401,920 (GRCm39) H52Y probably damaging Het
Vps11 T C 9: 44,267,706 (GRCm39) D302G probably benign Het
Zfp398 T C 6: 47,836,468 (GRCm39) 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
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'- ACCCTGATGACCTGACCTCTAC -3'
(R):5'- ACCTTAAACATTGTCGCTGCTAG -3'

Sequencing Primer
(F):5'- GATGACCTGACCTCTACCTGTC -3'
(R):5'- AACATTGTCGCTGCTAGATTCTTTAC -3'
Posted On 2020-09-02