Incidental Mutation 'R0019:D130043K22Rik'
ID |
15506 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D130043K22Rik
|
Ensembl Gene |
ENSMUSG00000006711 |
Gene Name |
RIKEN cDNA D130043K22 gene |
Synonyms |
Kiaa0319 |
MMRRC Submission |
038314-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0019 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
25029118-25085253 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 25064795 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 737
(V737D)
|
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: V737D
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000006893 Gene: ENSMUSG00000006711 AA Change: V737D
Domain | Start | End | E-Value | Type |
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: V737D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000116004 Gene: ENSMUSG00000006711 AA Change: V737D
Domain | Start | End | E-Value | Type |
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
|
Meta Mutation Damage Score |
0.5468 |
Coding Region Coverage |
- 1x: 83.5%
- 3x: 78.2%
- 10x: 64.4%
- 20x: 48.4%
|
Validation Efficiency |
91% (93/102) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd13a |
T |
A |
5: 114,924,142 (GRCm39) |
|
probably benign |
Het |
Arhgef12 |
A |
T |
9: 42,889,529 (GRCm39) |
W1029R |
probably damaging |
Het |
Aunip |
T |
A |
4: 134,250,823 (GRCm39) |
L256* |
probably null |
Het |
Bahcc1 |
T |
A |
11: 120,180,597 (GRCm39) |
M2607K |
probably damaging |
Het |
Bltp3b |
A |
G |
10: 89,611,831 (GRCm39) |
T5A |
probably damaging |
Het |
Cacng6 |
G |
T |
7: 3,480,384 (GRCm39) |
M152I |
possibly damaging |
Het |
Cep120 |
A |
G |
18: 53,842,119 (GRCm39) |
|
probably benign |
Het |
Dock10 |
A |
G |
1: 80,583,642 (GRCm39) |
S187P |
probably damaging |
Het |
Eogt |
C |
T |
6: 97,111,234 (GRCm39) |
|
probably benign |
Het |
Fasn |
A |
T |
11: 120,698,824 (GRCm39) |
|
probably benign |
Het |
Frem2 |
C |
T |
3: 53,431,099 (GRCm39) |
V2745M |
probably damaging |
Het |
Fshb |
T |
C |
2: 106,887,690 (GRCm39) |
S110G |
probably benign |
Het |
Gpi1 |
A |
G |
7: 33,920,324 (GRCm39) |
Y144H |
probably damaging |
Het |
Gsap |
T |
C |
5: 21,475,620 (GRCm39) |
|
probably benign |
Het |
Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
Herc3 |
T |
C |
6: 58,862,050 (GRCm39) |
|
probably benign |
Het |
Il1r2 |
C |
T |
1: 40,164,210 (GRCm39) |
T359M |
probably damaging |
Het |
Il6st |
T |
C |
13: 112,637,682 (GRCm39) |
C563R |
possibly damaging |
Het |
Irs1 |
T |
A |
1: 82,264,977 (GRCm39) |
K1080* |
probably null |
Het |
Itpr1 |
T |
C |
6: 108,331,587 (GRCm39) |
V182A |
probably damaging |
Het |
Kalrn |
C |
T |
16: 34,018,884 (GRCm39) |
|
probably benign |
Het |
Kcnj11 |
G |
A |
7: 45,748,363 (GRCm39) |
A320V |
probably benign |
Het |
Lrig1 |
T |
A |
6: 94,584,330 (GRCm39) |
R905* |
probably null |
Het |
Lrrc43 |
T |
C |
5: 123,639,378 (GRCm39) |
L469P |
probably damaging |
Het |
Med29 |
A |
T |
7: 28,090,501 (GRCm39) |
|
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,578,623 (GRCm39) |
I18M |
probably benign |
Het |
Nalcn |
A |
C |
14: 123,744,901 (GRCm39) |
C376G |
probably benign |
Het |
Ncor2 |
C |
T |
5: 125,196,545 (GRCm39) |
|
probably null |
Het |
Nek1 |
T |
A |
8: 61,542,768 (GRCm39) |
M786K |
probably benign |
Het |
Nrxn2 |
A |
G |
19: 6,559,987 (GRCm39) |
|
probably benign |
Het |
Nxpe2 |
T |
C |
9: 48,231,080 (GRCm39) |
I430V |
probably benign |
Het |
Pcolce2 |
A |
G |
9: 95,577,017 (GRCm39) |
|
probably null |
Het |
Pdcl |
A |
T |
2: 37,241,932 (GRCm39) |
L273M |
probably damaging |
Het |
Pml |
A |
T |
9: 58,127,776 (GRCm39) |
S610R |
probably damaging |
Het |
Polk |
C |
A |
13: 96,641,124 (GRCm39) |
R144S |
probably damaging |
Het |
Rlf |
A |
G |
4: 121,003,769 (GRCm39) |
V1737A |
possibly damaging |
Het |
Rubcnl |
T |
A |
14: 75,285,703 (GRCm39) |
|
probably benign |
Het |
Scn3a |
A |
T |
2: 65,292,045 (GRCm39) |
V1567E |
probably damaging |
Het |
Scyl2 |
A |
G |
10: 89,495,183 (GRCm39) |
I296T |
probably benign |
Het |
Slc15a3 |
A |
G |
19: 10,833,404 (GRCm39) |
I474V |
probably damaging |
Het |
Sstr1 |
T |
C |
12: 58,259,935 (GRCm39) |
L186S |
probably damaging |
Het |
Tmem108 |
A |
T |
9: 103,366,539 (GRCm39) |
V484D |
possibly damaging |
Het |
Trim69 |
A |
T |
2: 122,004,958 (GRCm39) |
|
probably null |
Het |
Trim80 |
T |
G |
11: 115,338,768 (GRCm39) |
Y533D |
probably damaging |
Het |
Unc13b |
T |
C |
4: 43,096,990 (GRCm39) |
I121T |
possibly damaging |
Het |
Usp40 |
T |
C |
1: 87,906,133 (GRCm39) |
T701A |
probably benign |
Het |
Xpr1 |
A |
G |
1: 155,208,145 (GRCm39) |
|
probably benign |
Het |
Ywhab |
T |
A |
2: 163,858,090 (GRCm39) |
I219N |
probably damaging |
Het |
Zfp219 |
G |
T |
14: 52,246,485 (GRCm39) |
T169K |
probably damaging |
Het |
|
Other mutations in D130043K22Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
2012-12-21 |