Incidental Mutation 'R5155:D130043K22Rik'
| ID |
396686 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D130043K22Rik
|
| Ensembl Gene |
ENSMUSG00000006711 |
| Gene Name |
RIKEN cDNA D130043K22 gene |
| Synonyms |
Kiaa0319 |
| MMRRC Submission |
042737-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5155 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
25029118-25085253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25056273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 535
(D535G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006893]
[ENSMUST00000141572]
|
| AlphaFold |
Q5SZV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006893
AA Change: D535G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: D535G
| 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 damaging
Transcript: ENSMUST00000141572
AA Change: D535G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711
AA Change: D535G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,482,447 (GRCm39) |
V4326A |
probably damaging |
Het |
| Actn4 |
A |
G |
7: 28,661,442 (GRCm39) |
|
probably null |
Het |
| Adamts8 |
A |
G |
9: 30,865,844 (GRCm39) |
D464G |
probably benign |
Het |
| Adss1 |
T |
C |
12: 112,604,642 (GRCm39) |
I366T |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,207,081 (GRCm39) |
D575G |
possibly damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,817,489 (GRCm39) |
M73K |
probably benign |
Het |
| Ap4e1 |
A |
G |
2: 126,905,289 (GRCm39) |
T987A |
probably benign |
Het |
| Banp |
A |
C |
8: 122,727,759 (GRCm39) |
S318R |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,260,538 (GRCm39) |
H47R |
probably damaging |
Het |
| Brwd1 |
G |
T |
16: 95,803,993 (GRCm39) |
S2524* |
probably null |
Het |
| Btbd8 |
T |
C |
5: 107,638,569 (GRCm39) |
I323T |
probably damaging |
Het |
| Cand2 |
T |
A |
6: 115,769,219 (GRCm39) |
D676E |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,867,755 (GRCm39) |
H224Q |
probably benign |
Het |
| Ccdc138 |
A |
T |
10: 58,343,394 (GRCm39) |
Y83F |
probably benign |
Het |
| Ccdc162 |
A |
T |
10: 41,429,576 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
A |
C |
10: 41,455,147 (GRCm39) |
S396A |
probably damaging |
Het |
| Ces1e |
A |
T |
8: 93,928,034 (GRCm39) |
*562R |
probably null |
Het |
| Clstn2 |
T |
A |
9: 97,338,484 (GRCm39) |
M892L |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,345,264 (GRCm39) |
T2673A |
possibly damaging |
Het |
| Cstf3 |
A |
G |
2: 104,482,830 (GRCm39) |
N326S |
probably benign |
Het |
| Cux1 |
G |
A |
5: 136,594,295 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
T |
G |
9: 86,922,456 (GRCm39) |
M155R |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,313,362 (GRCm39) |
P4266S |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,682,654 (GRCm39) |
N272I |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,731,715 (GRCm39) |
Y779C |
possibly damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,854,054 (GRCm39) |
N507K |
probably benign |
Het |
| Elavl4 |
T |
C |
4: 110,149,833 (GRCm39) |
Q3R |
probably null |
Het |
| Engase |
T |
G |
11: 118,372,107 (GRCm39) |
I133S |
probably benign |
Het |
| Ercc5 |
T |
C |
1: 44,219,782 (GRCm39) |
V1018A |
probably damaging |
Het |
| Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
| Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
| Fam8a1 |
G |
A |
13: 46,827,038 (GRCm39) |
A270T |
probably benign |
Het |
| Fhdc1 |
T |
G |
3: 84,353,457 (GRCm39) |
Q589H |
probably benign |
Het |
| Gatm |
G |
A |
2: 122,440,334 (GRCm39) |
T35I |
probably benign |
Het |
| Gcgr |
T |
C |
11: 120,427,872 (GRCm39) |
I271T |
probably benign |
Het |
| Gm527 |
T |
A |
12: 64,970,381 (GRCm39) |
Y239N |
probably damaging |
Het |
| H2-Ab1 |
A |
G |
17: 34,486,358 (GRCm39) |
H139R |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,877,574 (GRCm39) |
R4547Q |
possibly damaging |
Het |
| Itga1 |
A |
T |
13: 115,171,839 (GRCm39) |
S89T |
probably benign |
Het |
| Kash5 |
C |
A |
7: 44,839,078 (GRCm39) |
E53* |
probably null |
Het |
| Katnip |
A |
G |
7: 125,471,356 (GRCm39) |
T1486A |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,258,607 (GRCm39) |
M1365V |
probably benign |
Het |
| Lrp1b |
A |
C |
2: 41,618,634 (GRCm39) |
|
probably null |
Het |
| Map1a |
G |
A |
2: 121,132,867 (GRCm39) |
A990T |
probably damaging |
Het |
| Micall2 |
C |
A |
5: 139,695,986 (GRCm39) |
L784F |
probably damaging |
Het |
| Mmp9 |
T |
C |
2: 164,790,986 (GRCm39) |
|
probably null |
Het |
| Mrps7 |
T |
A |
11: 115,495,655 (GRCm39) |
Y64* |
probably null |
Het |
| Mslnl |
C |
T |
17: 25,957,942 (GRCm39) |
Q62* |
probably null |
Het |
| Nfil3 |
A |
G |
13: 53,122,616 (GRCm39) |
L96P |
probably damaging |
Het |
| Or2f1 |
A |
G |
6: 42,721,748 (GRCm39) |
Y259C |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,863,457 (GRCm39) |
D756G |
possibly damaging |
Het |
| Plxnd1 |
C |
T |
6: 115,935,949 (GRCm39) |
|
probably null |
Het |
| Prickle4 |
C |
T |
17: 48,000,982 (GRCm39) |
|
probably null |
Het |
| Prr9 |
T |
A |
3: 92,030,356 (GRCm39) |
T95S |
possibly damaging |
Het |
| Prrc2a |
A |
G |
17: 35,379,067 (GRCm39) |
|
probably null |
Het |
| Prrt3 |
A |
G |
6: 113,474,520 (GRCm39) |
|
probably null |
Het |
| Psme4 |
A |
T |
11: 30,826,806 (GRCm39) |
Y1775F |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,763,572 (GRCm39) |
V243A |
possibly damaging |
Het |
| Rnf32 |
T |
C |
5: 29,408,145 (GRCm39) |
S125P |
probably damaging |
Het |
| Rnf8 |
A |
G |
17: 29,845,604 (GRCm39) |
Y65C |
probably damaging |
Het |
| Rph3a |
T |
C |
5: 121,086,833 (GRCm39) |
T456A |
possibly damaging |
Het |
| Scaper |
T |
A |
9: 55,463,370 (GRCm39) |
Q854L |
probably null |
Het |
| Sez6l2 |
T |
C |
7: 126,561,545 (GRCm39) |
S472P |
probably damaging |
Het |
| Spsb3 |
T |
C |
17: 25,105,969 (GRCm39) |
|
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,080,427 (GRCm39) |
D40G |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,437,408 (GRCm39) |
N1389D |
probably benign |
Het |
| Taf4b |
G |
T |
18: 14,963,152 (GRCm39) |
A631S |
probably benign |
Het |
| Tcstv1b |
T |
C |
13: 120,635,089 (GRCm39) |
S124P |
probably benign |
Het |
| Tigd4 |
G |
A |
3: 84,501,970 (GRCm39) |
V296M |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,324,737 (GRCm39) |
|
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,315,194 (GRCm39) |
|
probably null |
Het |
| Vmn2r6 |
T |
G |
3: 64,445,935 (GRCm39) |
N597H |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,248,026 (GRCm39) |
S1076R |
possibly damaging |
Het |
| Zfp64 |
T |
A |
2: 168,748,885 (GRCm39) |
Q44L |
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 |
|
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 |
|
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'- ATGTGGGAACATTTTGTGACTC -3'
(R):5'- ATGACTTGCCTGCATGACC -3'
Sequencing Primer
(F):5'- CTCAAAGATAAGATGAACCTATGGC -3'
(R):5'- GACTTGCCTGCATGACCATCTC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation