Incidental Mutation 'R9209:D130043K22Rik'
ID |
698733 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D130043K22Rik
|
Ensembl Gene |
ENSMUSG00000006711 |
Gene Name |
RIKEN cDNA D130043K22 gene |
Synonyms |
Kiaa0319 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9209 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
25029118-25085253 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25041090 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 171
(S171P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006893
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006893]
[ENSMUST00000141572]
|
AlphaFold |
Q5SZV5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006893
AA Change: S171P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000006893 Gene: ENSMUSG00000006711 AA Change: S171P
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 |
possibly damaging
Transcript: ENSMUST00000141572
AA Change: S171P
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000116004 Gene: ENSMUSG00000006711 AA Change: S171P
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: 98.7%
|
Validation Efficiency |
96% (73/76) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
A |
7: 41,275,837 (GRCm39) |
N513K |
possibly damaging |
Het |
Actl6a |
T |
A |
3: 32,779,469 (GRCm39) |
I399N |
probably damaging |
Het |
Adamts5 |
A |
G |
16: 85,666,971 (GRCm39) |
V507A |
probably damaging |
Het |
Ap3d1 |
A |
G |
10: 80,554,918 (GRCm39) |
V469A |
probably benign |
Het |
Arhgef4 |
G |
T |
1: 34,764,241 (GRCm39) |
|
probably null |
Het |
Arhgef4 |
A |
T |
1: 34,849,576 (GRCm39) |
Q389L |
probably benign |
Het |
Atad2 |
A |
G |
15: 57,980,194 (GRCm39) |
V106A |
possibly damaging |
Het |
Azin2 |
T |
C |
4: 128,841,341 (GRCm39) |
E275G |
probably damaging |
Het |
Bhlhe23 |
A |
G |
2: 180,418,143 (GRCm39) |
S132P |
probably damaging |
Het |
Capn12 |
A |
G |
7: 28,581,243 (GRCm39) |
Y32C |
probably damaging |
Het |
Celsr2 |
A |
T |
3: 108,321,349 (GRCm39) |
S488T |
probably benign |
Het |
Cenpx |
A |
G |
11: 120,602,582 (GRCm39) |
V27A |
possibly damaging |
Het |
Clca3a2 |
G |
A |
3: 144,778,005 (GRCm39) |
P760L |
probably benign |
Het |
Clstn3 |
T |
C |
6: 124,408,571 (GRCm39) |
S951G |
probably benign |
Het |
Clybl |
C |
A |
14: 122,621,670 (GRCm39) |
P286Q |
probably benign |
Het |
Cmya5 |
T |
A |
13: 93,226,866 (GRCm39) |
M2741L |
probably benign |
Het |
Cntnap2 |
G |
A |
6: 47,026,183 (GRCm39) |
G944E |
probably damaging |
Het |
Col8a1 |
A |
C |
16: 57,447,283 (GRCm39) |
Y742* |
probably null |
Het |
Crb1 |
T |
C |
1: 139,171,051 (GRCm39) |
K780E |
probably damaging |
Het |
Crygc |
T |
A |
1: 65,112,376 (GRCm39) |
Y66F |
probably benign |
Het |
Cyp2b9 |
G |
A |
7: 25,873,004 (GRCm39) |
G49E |
possibly damaging |
Het |
Dhx36 |
T |
C |
3: 62,378,895 (GRCm39) |
I890V |
probably benign |
Het |
Dpp9 |
C |
T |
17: 56,512,765 (GRCm39) |
G148S |
probably damaging |
Het |
Eml6 |
G |
T |
11: 29,781,175 (GRCm39) |
S619Y |
probably damaging |
Het |
Enpp4 |
A |
T |
17: 44,412,252 (GRCm39) |
L319* |
probably null |
Het |
Esyt1 |
T |
C |
10: 128,361,356 (GRCm39) |
S113G |
probably benign |
Het |
Fat1 |
A |
G |
8: 45,404,791 (GRCm39) |
D514G |
possibly damaging |
Het |
Fbxo16 |
G |
A |
14: 65,524,594 (GRCm39) |
R38Q |
probably damaging |
Het |
Fchsd1 |
A |
T |
18: 38,092,706 (GRCm39) |
M668K |
unknown |
Het |
Gpr149 |
C |
T |
3: 62,511,093 (GRCm39) |
S302N |
probably benign |
Het |
Gsap |
A |
G |
5: 21,433,064 (GRCm39) |
K258E |
probably benign |
Het |
Helq |
C |
A |
5: 100,939,218 (GRCm39) |
V443F |
probably benign |
Het |
Helq |
T |
A |
5: 100,939,219 (GRCm39) |
K442N |
probably damaging |
Het |
Ighv1-37 |
T |
C |
12: 114,860,123 (GRCm39) |
E29G |
possibly damaging |
Het |
Ighv1-9 |
C |
A |
12: 114,547,620 (GRCm39) |
M1I |
probably null |
Het |
Itga6 |
T |
G |
2: 71,671,477 (GRCm39) |
F743V |
probably benign |
Het |
Lpin1 |
C |
A |
12: 16,588,548 (GRCm39) |
D881Y |
|
Het |
Lypd8 |
T |
A |
11: 58,273,640 (GRCm39) |
C40S |
possibly damaging |
Het |
Macf1 |
C |
T |
4: 123,326,227 (GRCm39) |
R5092Q |
probably damaging |
Het |
Mcm7 |
A |
G |
5: 138,166,593 (GRCm39) |
|
probably null |
Het |
Micall2 |
G |
A |
5: 139,696,170 (GRCm39) |
T831I |
unknown |
Het |
Myo18b |
A |
T |
5: 113,022,927 (GRCm39) |
M155K |
unknown |
Het |
Nckap5 |
T |
A |
1: 125,867,928 (GRCm39) |
H201L |
unknown |
Het |
Ndst2 |
A |
T |
14: 20,779,240 (GRCm39) |
D333E |
possibly damaging |
Het |
Nlgn1 |
A |
G |
3: 25,966,804 (GRCm39) |
|
probably null |
Het |
Nup188 |
T |
G |
2: 30,232,397 (GRCm39) |
Y1483D |
probably benign |
Het |
Or4c109 |
A |
C |
2: 88,818,057 (GRCm39) |
L163* |
probably null |
Het |
Or52ae9 |
T |
A |
7: 103,390,319 (GRCm39) |
S43C |
probably benign |
Het |
Or52n4b |
A |
C |
7: 108,144,664 (GRCm39) |
I311L |
probably benign |
Het |
Or5p66 |
T |
A |
7: 107,885,526 (GRCm39) |
Y269F |
probably benign |
Het |
Or8g33 |
T |
A |
9: 39,337,635 (GRCm39) |
H244L |
probably damaging |
Het |
Peg3 |
A |
C |
7: 6,711,226 (GRCm39) |
I1332S |
possibly damaging |
Het |
Piezo2 |
T |
C |
18: 63,154,372 (GRCm39) |
K2469R |
probably damaging |
Het |
Pik3cg |
T |
C |
12: 32,247,312 (GRCm39) |
M804V |
probably damaging |
Het |
Polq |
A |
T |
16: 36,869,011 (GRCm39) |
I794F |
possibly damaging |
Het |
Rasgef1b |
A |
G |
5: 99,370,191 (GRCm39) |
V437A |
probably benign |
Het |
Rdm1 |
T |
A |
11: 101,518,857 (GRCm39) |
D21E |
probably benign |
Het |
Ripk4 |
G |
T |
16: 97,551,311 (GRCm39) |
Q219K |
possibly damaging |
Het |
Ropn1l |
T |
C |
15: 31,441,471 (GRCm39) |
I217V |
|
Het |
Sdf2 |
T |
C |
11: 78,136,858 (GRCm39) |
S13P |
unknown |
Het |
Selenbp1 |
A |
G |
3: 94,847,079 (GRCm39) |
T202A |
probably benign |
Het |
Slfn5 |
T |
C |
11: 82,850,933 (GRCm39) |
F410S |
possibly damaging |
Het |
Srrm2 |
A |
G |
17: 24,039,880 (GRCm39) |
T2175A |
probably benign |
Het |
St6galnac3 |
T |
C |
3: 153,117,360 (GRCm39) |
Y121C |
possibly damaging |
Het |
Stat1 |
A |
G |
1: 52,184,337 (GRCm39) |
N417S |
probably benign |
Het |
Tead1 |
T |
C |
7: 112,475,378 (GRCm39) |
F276L |
probably damaging |
Het |
Teddm3 |
A |
T |
16: 20,971,737 (GRCm39) |
S277R |
probably benign |
Het |
Tmc2 |
A |
G |
2: 130,103,317 (GRCm39) |
|
probably null |
Het |
Tmem156 |
G |
A |
5: 65,231,127 (GRCm39) |
L248F |
probably damaging |
Het |
Tnn |
T |
C |
1: 159,953,986 (GRCm39) |
S590G |
probably benign |
Het |
Trmt44 |
A |
G |
5: 35,731,422 (GRCm39) |
|
probably null |
Het |
Upp2 |
T |
A |
2: 58,668,022 (GRCm39) |
Y238* |
probably null |
Het |
Usp32 |
T |
C |
11: 84,930,838 (GRCm39) |
T531A |
probably damaging |
Het |
Vmn2r78 |
A |
T |
7: 86,569,431 (GRCm39) |
D108V |
probably benign |
Het |
Wdfy3 |
G |
T |
5: 102,078,830 (GRCm39) |
A824E |
probably benign |
Het |
Xylt1 |
T |
C |
7: 117,255,870 (GRCm39) |
V814A |
probably benign |
Het |
Zfy1 |
C |
T |
Y: 732,990 (GRCm39) |
R281H |
unknown |
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 |
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 |
|
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'- AGCTGCTGGACTATGGAGAC -3'
(R):5'- AAGGCCACACACTGCTTATTG -3'
Sequencing Primer
(F):5'- CATGATGCTGAGCAGGGGC -3'
(R):5'- GCCACACACTGCTTATTGAAGAGTG -3'
|
Posted On |
2022-02-07 |