Incidental Mutation 'R2568:D130043K22Rik'
ID |
254651 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D130043K22Rik
|
Ensembl Gene |
ENSMUSG00000006711 |
Gene Name |
RIKEN cDNA D130043K22 gene |
Synonyms |
Kiaa0319 |
MMRRC Submission |
040427-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2568 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
25029118-25085253 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 25067874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 870
(T870M)
|
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: T870M
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000006893 Gene: ENSMUSG00000006711 AA Change: T870M
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730071L15Rik |
A |
T |
11: 6,150,161 (GRCm39) |
|
probably benign |
Het |
Abca13 |
A |
T |
11: 9,283,310 (GRCm39) |
N3244I |
probably benign |
Het |
Adgrf5 |
A |
G |
17: 43,748,562 (GRCm39) |
T219A |
probably damaging |
Het |
Adgrg5 |
A |
T |
8: 95,660,649 (GRCm39) |
N92I |
probably damaging |
Het |
Agt |
A |
C |
8: 125,283,694 (GRCm39) |
V475G |
probably damaging |
Het |
Akap6 |
A |
G |
12: 52,934,061 (GRCm39) |
K518E |
possibly damaging |
Het |
Apoh |
T |
G |
11: 108,295,697 (GRCm39) |
D133E |
probably benign |
Het |
Axdnd1 |
T |
A |
1: 156,220,319 (GRCm39) |
M234L |
possibly damaging |
Het |
Cacna1d |
A |
G |
14: 29,804,468 (GRCm39) |
I1335T |
probably damaging |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cfap206 |
T |
A |
4: 34,711,566 (GRCm39) |
K444* |
probably null |
Het |
Clasp2 |
A |
G |
9: 113,707,832 (GRCm39) |
I614M |
probably benign |
Het |
Col6a4 |
A |
T |
9: 105,940,275 (GRCm39) |
D1218E |
possibly damaging |
Het |
Cplane1 |
T |
C |
15: 8,230,753 (GRCm39) |
V1010A |
possibly damaging |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Dagla |
C |
A |
19: 10,225,516 (GRCm39) |
A883S |
probably benign |
Het |
Dhx30 |
A |
G |
9: 109,926,263 (GRCm39) |
V87A |
probably damaging |
Het |
Dtx1 |
C |
A |
5: 120,848,249 (GRCm39) |
V44L |
possibly damaging |
Het |
Ecm2 |
T |
A |
13: 49,683,605 (GRCm39) |
S528T |
possibly damaging |
Het |
Eeig2 |
T |
A |
3: 108,886,164 (GRCm39) |
N356I |
probably benign |
Het |
Egfem1 |
A |
T |
3: 29,637,080 (GRCm39) |
N172I |
probably damaging |
Het |
Fam13a |
T |
G |
6: 58,912,594 (GRCm39) |
R686S |
probably damaging |
Het |
Fam243 |
A |
G |
16: 92,118,207 (GRCm39) |
L27P |
probably damaging |
Het |
Fmo1 |
T |
A |
1: 162,663,828 (GRCm39) |
I234L |
probably benign |
Het |
Foxj2 |
C |
T |
6: 122,805,331 (GRCm39) |
R68W |
probably damaging |
Het |
Foxo6 |
A |
T |
4: 120,125,961 (GRCm39) |
M278K |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,820,775 (GRCm39) |
S5503G |
probably benign |
Het |
Gdf5 |
C |
G |
2: 155,784,010 (GRCm39) |
R100G |
probably benign |
Het |
Il1b |
A |
T |
2: 129,209,242 (GRCm39) |
D129E |
probably damaging |
Het |
Klhl29 |
A |
G |
12: 5,141,350 (GRCm39) |
S545P |
probably damaging |
Het |
Krt87 |
G |
T |
15: 101,385,708 (GRCm39) |
R296S |
possibly damaging |
Het |
Llgl1 |
T |
G |
11: 60,599,638 (GRCm39) |
S509R |
probably damaging |
Het |
Lmod1 |
A |
T |
1: 135,291,702 (GRCm39) |
K186* |
probably null |
Het |
Lrpprc |
C |
T |
17: 85,034,077 (GRCm39) |
A973T |
probably damaging |
Het |
Marco |
T |
C |
1: 120,422,514 (GRCm39) |
H49R |
possibly damaging |
Het |
Mylk4 |
T |
C |
13: 32,906,001 (GRCm39) |
N394S |
probably null |
Het |
Myo5a |
A |
G |
9: 75,030,322 (GRCm39) |
Y147C |
probably damaging |
Het |
Myo5a |
T |
C |
9: 75,059,179 (GRCm39) |
V469A |
probably damaging |
Het |
Myot |
A |
G |
18: 44,470,283 (GRCm39) |
T87A |
probably benign |
Het |
Nav2 |
A |
G |
7: 49,247,312 (GRCm39) |
H2154R |
probably damaging |
Het |
Nek10 |
A |
G |
14: 14,999,112 (GRCm38) |
E1037G |
possibly damaging |
Het |
Or1j13 |
T |
C |
2: 36,369,986 (GRCm39) |
D52G |
probably damaging |
Het |
Or52e4 |
A |
G |
7: 104,705,878 (GRCm39) |
T142A |
probably benign |
Het |
Or5k17 |
A |
G |
16: 58,746,286 (GRCm39) |
V216A |
probably benign |
Het |
Pitrm1 |
G |
T |
13: 6,625,128 (GRCm39) |
V869F |
probably benign |
Het |
Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,976,940 (GRCm39) |
|
probably benign |
Het |
Prdx1 |
T |
G |
4: 116,550,997 (GRCm39) |
I156S |
probably benign |
Het |
Rbks |
T |
A |
5: 31,823,096 (GRCm39) |
T107S |
probably damaging |
Het |
Ryr3 |
G |
A |
2: 112,506,219 (GRCm39) |
R3468W |
probably damaging |
Het |
Scn1a |
C |
T |
2: 66,103,813 (GRCm39) |
D1805N |
probably damaging |
Het |
Sirpa |
T |
C |
2: 129,457,568 (GRCm39) |
V214A |
probably benign |
Het |
Slc35c1 |
T |
C |
2: 92,289,225 (GRCm39) |
N94D |
probably benign |
Het |
Sorbs2 |
A |
T |
8: 46,248,407 (GRCm39) |
K553* |
probably null |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Thg1l |
A |
G |
11: 45,842,392 (GRCm39) |
V142A |
probably benign |
Het |
Tiparp |
T |
A |
3: 65,460,551 (GRCm39) |
Y513* |
probably null |
Het |
Tmc6 |
A |
G |
11: 117,663,646 (GRCm39) |
V522A |
probably benign |
Het |
Trim39 |
T |
A |
17: 36,580,056 (GRCm39) |
|
probably benign |
Het |
Trrap |
G |
A |
5: 144,780,179 (GRCm39) |
|
probably null |
Het |
Tulp3 |
C |
T |
6: 128,304,601 (GRCm39) |
V218I |
probably benign |
Het |
Vmn1r38 |
T |
A |
6: 66,753,955 (GRCm39) |
I54F |
probably benign |
Het |
Vmn2r23 |
T |
A |
6: 123,719,147 (GRCm39) |
Y833* |
probably null |
Het |
Zfp810 |
A |
T |
9: 22,190,534 (GRCm39) |
S125T |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGAAAATCCTGTGTCCTCTCC -3'
(R):5'- AGTCCAGACAACTGTTTGGC -3'
Sequencing Primer
(F):5'- CCCTCAGACCCCAAGAAGGATG -3'
(R):5'- TGTTTGGCTGATGAAAATTACAGAGG -3'
|
Posted On |
2014-12-04 |