Incidental Mutation 'R6305:D130043K22Rik'
ID |
509616 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D130043K22Rik
|
Ensembl Gene |
ENSMUSG00000006711 |
Gene Name |
RIKEN cDNA D130043K22 gene |
Synonyms |
Kiaa0319 |
MMRRC Submission |
044411-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6305 (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 25069668 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 909
(F909S)
|
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: F909S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006893 Gene: ENSMUSG00000006711 AA Change: F909S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169411
|
Meta Mutation Damage Score |
0.2191 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
97% (61/63) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,773,741 (GRCm39) |
S977P |
probably damaging |
Het |
Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
Adcy6 |
T |
A |
15: 98,496,526 (GRCm39) |
I550L |
probably benign |
Het |
Agbl3 |
G |
A |
6: 34,759,145 (GRCm39) |
D19N |
unknown |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Arhgap39 |
T |
A |
15: 76,621,902 (GRCm39) |
D233V |
probably benign |
Het |
Bcl9 |
G |
A |
3: 97,113,254 (GRCm39) |
P1067L |
possibly damaging |
Het |
Casd1 |
C |
T |
6: 4,641,892 (GRCm39) |
T723I |
probably damaging |
Het |
Cd209g |
T |
A |
8: 4,186,809 (GRCm39) |
I118N |
probably benign |
Het |
Cdh24 |
A |
T |
14: 54,869,813 (GRCm39) |
D701E |
possibly damaging |
Het |
Chd9 |
C |
T |
8: 91,757,174 (GRCm39) |
P1858S |
possibly damaging |
Het |
Csnk1g3 |
T |
A |
18: 54,065,384 (GRCm39) |
Y322* |
probably null |
Het |
Cyp2f2 |
G |
A |
7: 26,828,649 (GRCm39) |
R173H |
probably damaging |
Het |
Dll4 |
T |
A |
2: 119,161,138 (GRCm39) |
S299T |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dsg4 |
T |
A |
18: 20,582,847 (GRCm39) |
Y162N |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,517,780 (GRCm39) |
Y882C |
probably damaging |
Het |
Fbxw7 |
T |
A |
3: 84,883,630 (GRCm39) |
N520K |
probably damaging |
Het |
Galc |
C |
T |
12: 98,225,549 (GRCm39) |
A14T |
possibly damaging |
Het |
Grm7 |
G |
A |
6: 111,335,626 (GRCm39) |
R679Q |
probably damaging |
Het |
Hnrnpdl |
T |
C |
5: 100,186,517 (GRCm39) |
|
probably benign |
Het |
Il12a |
A |
T |
3: 68,601,511 (GRCm39) |
K77N |
possibly damaging |
Het |
Il17rd |
C |
T |
14: 26,817,899 (GRCm39) |
S196L |
possibly damaging |
Het |
Kcnv2 |
T |
C |
19: 27,301,237 (GRCm39) |
F363L |
probably benign |
Het |
Lair1 |
A |
G |
7: 4,013,727 (GRCm39) |
|
probably null |
Het |
Lrit3 |
G |
A |
3: 129,594,109 (GRCm39) |
T156I |
probably damaging |
Het |
Me2 |
T |
A |
18: 73,924,915 (GRCm39) |
R267S |
probably benign |
Het |
Mga |
T |
C |
2: 119,778,179 (GRCm39) |
V1908A |
probably benign |
Het |
Mylk3 |
T |
A |
8: 86,077,048 (GRCm39) |
I463F |
probably damaging |
Het |
Neb |
G |
A |
2: 52,141,775 (GRCm39) |
R75* |
probably null |
Het |
Niban1 |
T |
C |
1: 151,571,469 (GRCm39) |
L248P |
probably damaging |
Het |
Or10a3b |
C |
T |
7: 108,444,761 (GRCm39) |
G152D |
possibly damaging |
Het |
Or1j11 |
T |
A |
2: 36,311,634 (GRCm39) |
S75T |
probably damaging |
Het |
Or5p50 |
T |
G |
7: 107,421,864 (GRCm39) |
T271P |
probably benign |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Or8b36 |
TG |
TGGTGTTGG |
9: 37,937,838 (GRCm39) |
|
probably null |
Het |
Or8k33 |
A |
G |
2: 86,383,839 (GRCm39) |
S210P |
possibly damaging |
Het |
Pfas |
A |
G |
11: 68,892,023 (GRCm39) |
S162P |
possibly damaging |
Het |
Pip5k1c |
T |
A |
10: 81,151,768 (GRCm39) |
V654E |
probably benign |
Het |
Plxdc1 |
C |
A |
11: 97,829,416 (GRCm39) |
C318F |
probably damaging |
Het |
Qrfprl |
A |
T |
6: 65,431,975 (GRCm39) |
M293L |
probably benign |
Het |
Rbm8a2 |
T |
C |
1: 175,806,312 (GRCm39) |
D55G |
probably benign |
Het |
Rexo5 |
A |
T |
7: 119,427,348 (GRCm39) |
K419N |
probably damaging |
Het |
Septin4 |
C |
T |
11: 87,458,145 (GRCm39) |
T173M |
probably benign |
Het |
Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
Slc24a4 |
C |
A |
12: 102,188,360 (GRCm39) |
T151K |
possibly damaging |
Het |
Slc6a15 |
A |
T |
10: 103,225,031 (GRCm39) |
I40F |
probably benign |
Het |
Slc6a21 |
T |
C |
7: 44,930,028 (GRCm39) |
V172A |
possibly damaging |
Het |
Thrap3 |
A |
G |
4: 126,074,600 (GRCm39) |
|
probably benign |
Het |
Tm9sf3 |
A |
G |
19: 41,233,881 (GRCm39) |
|
probably null |
Het |
Trp53 |
A |
T |
11: 69,479,533 (GRCm39) |
H211L |
probably damaging |
Het |
Ttc21b |
A |
T |
2: 66,018,614 (GRCm39) |
N1264K |
probably damaging |
Het |
Vmn1r120 |
A |
T |
7: 20,787,531 (GRCm39) |
V60E |
possibly damaging |
Het |
Ylpm1 |
A |
G |
12: 85,077,319 (GRCm39) |
E890G |
probably damaging |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zfp934 |
T |
C |
13: 62,666,370 (GRCm39) |
Y102C |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGGTGAAACGCCATGCTG -3'
(R):5'- TCGCCTACTGGAGAAATAATTGC -3'
Sequencing Primer
(F):5'- CATGCTGGTCGCTGTCTAACG -3'
(R):5'- TATGGCCAGACTCCTGAACTTAAAGG -3'
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Posted On |
2018-04-02 |