Incidental Mutation 'IGL02220:D130043K22Rik'
| ID |
285102 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
D130043K22Rik
|
| Ensembl Gene |
ENSMUSG00000006711 |
| Gene Name |
RIKEN cDNA D130043K22 gene |
| Synonyms |
Kiaa0319 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02220
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
25029118-25085253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25067738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 825
(G825S)
|
| 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: G825S
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: G825S
| 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
AA Change: M778I
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711
AA Change: M778I
| 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 |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,310,395 (GRCm39) |
D460G |
probably damaging |
Het |
| Ankrd9 |
T |
C |
12: 110,943,933 (GRCm39) |
M1V |
probably null |
Het |
| Anks1 |
T |
C |
17: 28,273,681 (GRCm39) |
I977T |
probably damaging |
Het |
| Bcar1 |
T |
C |
8: 112,437,839 (GRCm39) |
D767G |
possibly damaging |
Het |
| Bcl6 |
A |
T |
16: 23,793,641 (GRCm39) |
I102N |
probably damaging |
Het |
| Cacna2d2 |
G |
A |
9: 107,392,078 (GRCm39) |
G473D |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,140,903 (GRCm39) |
H3148Q |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,940,141 (GRCm39) |
V1263A |
possibly damaging |
Het |
| Crtc2 |
T |
C |
3: 90,166,455 (GRCm39) |
|
probably benign |
Het |
| Dera |
T |
A |
6: 137,757,815 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
G |
T |
11: 117,963,793 (GRCm39) |
Y2506* |
probably null |
Het |
| Enam |
T |
A |
5: 88,652,418 (GRCm39) |
L1309* |
probably null |
Het |
| Fbxo15 |
G |
A |
18: 84,982,317 (GRCm39) |
|
probably null |
Het |
| Fgfbp1 |
T |
C |
5: 44,136,828 (GRCm39) |
K155E |
probably damaging |
Het |
| Foxj2 |
C |
T |
6: 122,815,540 (GRCm39) |
|
probably benign |
Het |
| Fuca1 |
A |
G |
4: 135,666,530 (GRCm39) |
|
probably benign |
Het |
| Gad1-ps |
T |
A |
10: 99,281,184 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Eb2 |
C |
T |
17: 34,544,661 (GRCm39) |
|
probably benign |
Het |
| Insr |
A |
T |
8: 3,209,578 (GRCm39) |
F1168L |
probably damaging |
Het |
| Isx |
T |
A |
8: 75,619,333 (GRCm39) |
V175E |
possibly damaging |
Het |
| Kansl3 |
T |
C |
1: 36,407,070 (GRCm39) |
|
probably benign |
Het |
| Lin9 |
T |
C |
1: 180,494,932 (GRCm39) |
I218T |
probably damaging |
Het |
| Llgl2 |
C |
A |
11: 115,736,205 (GRCm39) |
A126D |
possibly damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,876,083 (GRCm39) |
E488G |
possibly damaging |
Het |
| Maml3 |
A |
G |
3: 51,597,639 (GRCm39) |
V369A |
possibly damaging |
Het |
| Mthfsl |
A |
G |
9: 88,597,708 (GRCm39) |
I14T |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,119,923 (GRCm39) |
|
probably benign |
Het |
| Nfkbil1 |
T |
C |
17: 35,439,722 (GRCm39) |
R264G |
possibly damaging |
Het |
| Or4c3d |
A |
G |
2: 89,882,038 (GRCm39) |
L210P |
probably damaging |
Het |
| Pde5a |
G |
T |
3: 122,542,031 (GRCm39) |
A174S |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,606,382 (GRCm39) |
I1173N |
probably damaging |
Het |
| Ppfia1 |
C |
A |
7: 144,035,512 (GRCm39) |
R1171L |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,172,131 (GRCm39) |
D595G |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,042,742 (GRCm39) |
|
probably benign |
Het |
| Samsn1 |
A |
G |
16: 75,680,763 (GRCm39) |
|
probably null |
Het |
| Sbno2 |
T |
A |
10: 79,908,202 (GRCm39) |
T66S |
probably benign |
Het |
| Serpina1c |
T |
A |
12: 103,862,338 (GRCm39) |
I326F |
probably damaging |
Het |
| Slc12a1 |
T |
C |
2: 125,030,190 (GRCm39) |
|
probably null |
Het |
| Slc18a2 |
A |
G |
19: 59,264,988 (GRCm39) |
E324G |
probably benign |
Het |
| Slc40a1 |
A |
T |
1: 45,950,495 (GRCm39) |
M319K |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,956,608 (GRCm39) |
Y287H |
possibly damaging |
Het |
| Stx4a |
A |
G |
7: 127,441,672 (GRCm39) |
E63G |
possibly damaging |
Het |
| Sv2a |
T |
C |
3: 96,098,032 (GRCm39) |
F545S |
probably benign |
Het |
| Svop |
T |
C |
5: 114,203,589 (GRCm39) |
D65G |
probably benign |
Het |
| Tex30 |
A |
T |
1: 44,126,182 (GRCm39) |
S182R |
probably benign |
Het |
| Tmem121b |
T |
C |
6: 120,469,298 (GRCm39) |
D473G |
probably damaging |
Het |
| Tnfrsf19 |
C |
A |
14: 61,210,941 (GRCm39) |
|
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,769,679 (GRCm39) |
S490P |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,115,746 (GRCm39) |
T82A |
probably benign |
Het |
| Vps16 |
A |
G |
2: 130,283,573 (GRCm39) |
D589G |
possibly damaging |
Het |
| Zscan29 |
A |
C |
2: 120,997,170 (GRCm39) |
S184A |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation