Incidental Mutation 'R8543:D130043K22Rik'
ID |
659483 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D130043K22Rik
|
Ensembl Gene |
ENSMUSG00000006711 |
Gene Name |
RIKEN cDNA D130043K22 gene |
Synonyms |
Kiaa0319 |
MMRRC Submission |
068508-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8543 (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 A
at 25073852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 977
(L977Q)
|
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: L977Q
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000006893 Gene: ENSMUSG00000006711 AA Change: L977Q
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 benign
Transcript: ENSMUST00000141572
|
SMART Domains |
Protein: ENSMUSP00000116004 Gene: ENSMUSG00000006711
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
96% (47/49) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf1 |
T |
A |
17: 43,624,097 (GRCm39) |
L839Q |
probably null |
Het |
Ampd1 |
T |
A |
3: 102,986,486 (GRCm39) |
F55Y |
possibly damaging |
Het |
Ank3 |
A |
G |
10: 69,838,266 (GRCm39) |
E891G |
probably damaging |
Het |
Ankrd13c |
A |
G |
3: 157,709,712 (GRCm39) |
|
probably null |
Het |
Ankrd63 |
A |
G |
2: 118,533,604 (GRCm39) |
|
probably benign |
Het |
Arhgap30 |
T |
C |
1: 171,232,530 (GRCm39) |
S392P |
probably damaging |
Het |
Arhgef11 |
A |
T |
3: 87,589,181 (GRCm39) |
K16M |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,872,860 (GRCm39) |
V373A |
probably damaging |
Het |
Blm |
A |
G |
7: 80,143,964 (GRCm39) |
M822T |
probably damaging |
Het |
Car15 |
T |
C |
16: 17,654,713 (GRCm39) |
N102D |
probably benign |
Het |
Cdk14 |
A |
T |
5: 5,430,079 (GRCm39) |
M16K |
probably benign |
Het |
Cep350 |
A |
G |
1: 155,738,122 (GRCm39) |
Y2574H |
probably damaging |
Het |
Coro1a |
C |
A |
7: 126,301,188 (GRCm39) |
C104F |
probably damaging |
Het |
Dcaf1 |
T |
G |
9: 106,735,277 (GRCm39) |
S742A |
probably benign |
Het |
Dnajb11 |
A |
T |
16: 22,681,335 (GRCm39) |
I38L |
probably benign |
Het |
Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
Fat4 |
A |
C |
3: 39,031,643 (GRCm39) |
H2476P |
probably damaging |
Het |
Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
Gm14326 |
G |
A |
2: 177,587,452 (GRCm39) |
R515W |
probably damaging |
Het |
Gm49368 |
T |
C |
7: 127,679,433 (GRCm39) |
Y192H |
probably damaging |
Het |
Gm7579 |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
7: 141,765,782 (GRCm39) |
|
probably benign |
Het |
Gpr182 |
T |
C |
10: 127,586,861 (GRCm39) |
H30R |
probably benign |
Het |
Gprc5c |
T |
A |
11: 114,755,094 (GRCm39) |
V257E |
probably damaging |
Het |
Iars2 |
T |
C |
1: 185,019,341 (GRCm39) |
T982A |
probably benign |
Het |
Ighg2b |
C |
A |
12: 113,270,552 (GRCm39) |
A193S |
probably damaging |
Het |
Izumo1 |
T |
A |
7: 45,275,678 (GRCm39) |
V329E |
possibly damaging |
Het |
Kcnj6 |
A |
T |
16: 94,563,250 (GRCm39) |
V398E |
possibly damaging |
Het |
Lef1 |
T |
A |
3: 130,909,138 (GRCm39) |
N117K |
possibly damaging |
Het |
Ltbp4 |
T |
C |
7: 27,024,666 (GRCm39) |
S655G |
possibly damaging |
Het |
Magi3 |
A |
T |
3: 104,126,984 (GRCm39) |
I100N |
probably damaging |
Het |
Mettl17 |
G |
A |
14: 52,126,257 (GRCm39) |
A222T |
probably benign |
Het |
Notch4 |
A |
G |
17: 34,787,394 (GRCm39) |
E318G |
probably damaging |
Het |
Nqo2 |
A |
T |
13: 34,169,297 (GRCm39) |
|
probably null |
Het |
Or8k31-ps1 |
A |
T |
2: 86,356,386 (GRCm39) |
M45K |
probably damaging |
Het |
Ptpn18 |
T |
C |
1: 34,511,229 (GRCm39) |
S324P |
probably benign |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Rin1 |
A |
G |
19: 5,102,100 (GRCm39) |
D203G |
probably damaging |
Het |
Serpinb9c |
T |
A |
13: 33,340,417 (GRCm39) |
E128V |
probably damaging |
Het |
Slc3a1 |
C |
A |
17: 85,335,925 (GRCm39) |
N22K |
probably benign |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Tmco4 |
G |
T |
4: 138,781,251 (GRCm39) |
V472L |
probably benign |
Het |
Tmem132d |
T |
C |
5: 128,345,799 (GRCm39) |
E241G |
probably benign |
Het |
Trim17 |
T |
A |
11: 58,862,281 (GRCm39) |
S438T |
probably damaging |
Het |
Trmt44 |
T |
C |
5: 35,732,374 (GRCm39) |
R6G |
probably benign |
Het |
Vcl |
G |
T |
14: 21,045,127 (GRCm39) |
L277F |
probably benign |
Het |
Vmn2r68 |
C |
T |
7: 84,883,648 (GRCm39) |
M152I |
probably benign |
Het |
Vmn2r94 |
C |
T |
17: 18,463,984 (GRCm39) |
V769I |
possibly damaging |
Het |
Vps13d |
G |
T |
4: 144,743,353 (GRCm39) |
S3027* |
probably null |
Het |
Zfp282 |
A |
G |
6: 47,881,561 (GRCm39) |
Q416R |
probably benign |
Het |
Zfp668 |
A |
G |
7: 127,466,392 (GRCm39) |
L264P |
probably damaging |
Het |
Zfp747 |
A |
G |
7: 126,973,655 (GRCm39) |
Y172H |
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 |
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 |
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'- TCCCTGAGTTATGTGCCTCATG -3'
(R):5'- CATTGTGCCCATGAAGTCCAG -3'
Sequencing Primer
(F):5'- CCAAACAAAGTCATCAGTTTGCTG -3'
(R):5'- GTCCAGTTTATTTTAAAGCCTCGTTG -3'
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Posted On |
2021-01-18 |