Incidental Mutation 'R7584:D130043K22Rik'
ID |
586990 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D130043K22Rik
|
Ensembl Gene |
ENSMUSG00000006711 |
Gene Name |
RIKEN cDNA D130043K22 gene |
Synonyms |
Kiaa0319 |
MMRRC Submission |
045667-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7584 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
25029118-25085253 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25056353 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 562
(S562G)
|
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: S562G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006893 Gene: ENSMUSG00000006711 AA Change: S562G
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: S562G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116004 Gene: ENSMUSG00000006711 AA Change: S562G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
99% (74/75) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
G |
17: 46,626,304 (GRCm39) |
|
probably null |
Het |
Actrt3 |
T |
C |
3: 30,652,356 (GRCm39) |
K246R |
probably benign |
Het |
Adam23 |
T |
A |
1: 63,584,621 (GRCm39) |
V343D |
probably damaging |
Het |
Ak2 |
T |
C |
4: 128,893,005 (GRCm39) |
S55P |
probably damaging |
Het |
Ank2 |
G |
A |
3: 126,739,777 (GRCm39) |
Q2036* |
probably null |
Het |
Ano10 |
A |
G |
9: 122,104,597 (GRCm39) |
I40T |
probably benign |
Het |
Aoc2 |
T |
A |
11: 101,217,005 (GRCm39) |
C363S |
possibly damaging |
Het |
Aplp2 |
A |
T |
9: 31,069,077 (GRCm39) |
V584E |
possibly damaging |
Het |
Arhgap32 |
A |
T |
9: 32,168,263 (GRCm39) |
T749S |
probably benign |
Het |
Atm |
A |
T |
9: 53,424,427 (GRCm39) |
F625I |
probably damaging |
Het |
Atr |
T |
C |
9: 95,824,766 (GRCm39) |
L2387P |
probably damaging |
Het |
Barhl1 |
C |
T |
2: 28,799,803 (GRCm39) |
G274D |
probably damaging |
Het |
Bcl2a1a |
A |
T |
9: 88,839,345 (GRCm39) |
D81V |
probably damaging |
Het |
Ccdc63 |
T |
G |
5: 122,251,267 (GRCm39) |
D381A |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,610,578 (GRCm39) |
|
probably null |
Het |
Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
Cyp4b1 |
T |
A |
4: 115,485,884 (GRCm39) |
D351V |
probably damaging |
Het |
Dgkb |
T |
A |
12: 38,189,391 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
C |
T |
7: 130,690,481 (GRCm39) |
Q905* |
probably null |
Het |
Dnajc21 |
A |
C |
15: 10,462,381 (GRCm39) |
Y81* |
probably null |
Het |
Dnali1 |
T |
C |
4: 124,959,331 (GRCm39) |
T21A |
probably benign |
Het |
Dpp8 |
A |
T |
9: 64,986,064 (GRCm39) |
L851F |
probably damaging |
Het |
Dpt |
T |
C |
1: 164,646,477 (GRCm39) |
Y149H |
probably benign |
Het |
Ep300 |
T |
C |
15: 81,512,627 (GRCm39) |
V983A |
unknown |
Het |
Faf1 |
C |
T |
4: 109,783,154 (GRCm39) |
R549C |
probably damaging |
Het |
Gcm1 |
A |
G |
9: 77,971,749 (GRCm39) |
N230S |
possibly damaging |
Het |
Gm10803 |
T |
A |
2: 93,394,513 (GRCm39) |
I95N |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,456,798 (GRCm39) |
I721N |
possibly damaging |
Het |
Hsp90ab1 |
T |
C |
17: 45,881,197 (GRCm39) |
H315R |
probably damaging |
Het |
Igkv10-95 |
T |
A |
6: 68,657,740 (GRCm39) |
S85R |
possibly damaging |
Het |
Katnip |
G |
T |
7: 125,469,838 (GRCm39) |
V1436L |
probably damaging |
Het |
Kcnq5 |
T |
C |
1: 21,472,545 (GRCm39) |
T901A |
probably benign |
Het |
Kremen1 |
C |
T |
11: 5,144,964 (GRCm39) |
V471M |
possibly damaging |
Het |
Lama2 |
C |
A |
10: 26,980,257 (GRCm39) |
D1853Y |
possibly damaging |
Het |
Lrif1 |
A |
G |
3: 106,639,217 (GRCm39) |
T76A |
probably benign |
Het |
Lrrtm2 |
T |
A |
18: 35,345,818 (GRCm39) |
I495F |
possibly damaging |
Het |
Ltbr |
G |
T |
6: 125,284,204 (GRCm39) |
Q413K |
probably benign |
Het |
Ms4a20 |
A |
G |
19: 11,087,725 (GRCm39) |
F69L |
possibly damaging |
Het |
Myrfl |
T |
A |
10: 116,664,902 (GRCm39) |
Y376F |
probably damaging |
Het |
Nup50l |
A |
C |
6: 96,142,373 (GRCm39) |
L224V |
probably benign |
Het |
Nup98 |
G |
T |
7: 101,825,596 (GRCm39) |
N414K |
probably benign |
Het |
Nynrin |
A |
G |
14: 56,109,041 (GRCm39) |
T1383A |
probably damaging |
Het |
Or4c15 |
G |
A |
2: 88,760,149 (GRCm39) |
P170L |
probably damaging |
Het |
Or5j1 |
A |
T |
2: 86,879,478 (GRCm39) |
I34N |
probably benign |
Het |
Or6c208 |
T |
A |
10: 129,223,901 (GRCm39) |
I133N |
probably damaging |
Het |
Or7g27 |
C |
A |
9: 19,250,569 (GRCm39) |
T271K |
possibly damaging |
Het |
Or8b1d |
G |
T |
9: 38,558,191 (GRCm39) |
P210T |
possibly damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,425 (GRCm39) |
S602T |
possibly damaging |
Het |
Sall3 |
A |
G |
18: 81,017,745 (GRCm39) |
F61S |
probably benign |
Het |
Scube1 |
G |
T |
15: 83,606,088 (GRCm39) |
C61* |
probably null |
Het |
Sec31b |
T |
C |
19: 44,519,995 (GRCm39) |
|
probably null |
Het |
Sec31b |
T |
C |
19: 44,531,762 (GRCm39) |
D49G |
probably damaging |
Het |
Skic2 |
A |
G |
17: 35,060,651 (GRCm39) |
I822T |
possibly damaging |
Het |
Slc19a3 |
C |
T |
1: 83,000,469 (GRCm39) |
V183M |
possibly damaging |
Het |
Slc41a2 |
T |
C |
10: 83,152,653 (GRCm39) |
|
probably benign |
Het |
Sphk2 |
C |
A |
7: 45,361,931 (GRCm39) |
V169L |
probably damaging |
Het |
Synpo |
C |
A |
18: 60,729,349 (GRCm39) |
R951L |
probably damaging |
Het |
Tbc1d9b |
G |
A |
11: 50,061,543 (GRCm39) |
C1017Y |
probably damaging |
Het |
Tmtc4 |
C |
A |
14: 123,215,563 (GRCm39) |
V28F |
probably benign |
Het |
Tprkb |
A |
G |
6: 85,905,809 (GRCm39) |
I165V |
probably benign |
Het |
Ttc23l |
T |
A |
15: 10,533,794 (GRCm39) |
I250F |
probably damaging |
Het |
Tut4 |
T |
C |
4: 108,336,543 (GRCm39) |
V89A |
probably benign |
Het |
Ubr3 |
G |
A |
2: 69,821,847 (GRCm39) |
V1370I |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,460,306 (GRCm39) |
|
probably null |
Het |
Usp9y |
T |
C |
Y: 1,384,451 (GRCm39) |
Y689C |
probably damaging |
Het |
Vmn1r56 |
A |
T |
7: 5,198,895 (GRCm39) |
Y241N |
probably damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,472,683 (GRCm39) |
T13A |
probably benign |
Het |
Vmn2r92 |
T |
A |
17: 18,387,028 (GRCm39) |
N122K |
probably benign |
Het |
Vps9d1 |
A |
G |
8: 123,977,456 (GRCm39) |
F131S |
probably damaging |
Het |
Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
Wfdc16 |
A |
T |
2: 164,480,547 (GRCm39) |
|
probably null |
Het |
Zbtb41 |
T |
A |
1: 139,351,795 (GRCm39) |
Y303N |
probably benign |
Het |
Zbtb5 |
T |
C |
4: 44,993,678 (GRCm39) |
T569A |
probably benign |
Het |
Zfp111 |
A |
G |
7: 23,898,025 (GRCm39) |
S530P |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACACTCTTGGATGTACGAGC -3'
(R):5'- AGAATTCCTGATTTAACAACCTCCC -3'
Sequencing Primer
(F):5'- TGGATGTACGAGCTTCCTTTTC -3'
(R):5'- TCCCTAAACCAAGAATAGATGAATGG -3'
|
Posted On |
2019-10-24 |