Incidental Mutation 'R5240:D130043K22Rik'
| ID |
400762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D130043K22Rik
|
| Ensembl Gene |
ENSMUSG00000006711 |
| Gene Name |
RIKEN cDNA D130043K22 gene |
| Synonyms |
Kiaa0319 |
| MMRRC Submission |
042811-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5240 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
25029118-25085253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25061960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 643
(E643G)
|
| 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: E643G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: E643G
| 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: E643G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711
AA Change: E643G
| 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 |
0.3991 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
100% (69/69) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
A |
C |
3: 59,659,449 (GRCm39) |
T301P |
probably damaging |
Het |
| Cdc42bpg |
T |
G |
19: 6,365,929 (GRCm39) |
L786R |
probably damaging |
Het |
| Cfap73 |
C |
T |
5: 120,767,772 (GRCm39) |
V260I |
probably damaging |
Het |
| Chchd10 |
A |
T |
10: 75,773,283 (GRCm39) |
N131I |
probably damaging |
Het |
| Chn2 |
T |
C |
6: 54,197,680 (GRCm39) |
V190A |
probably benign |
Het |
| Clec2l |
C |
T |
6: 38,650,387 (GRCm39) |
T64I |
probably damaging |
Het |
| Cpeb3 |
T |
A |
19: 37,151,915 (GRCm39) |
T154S |
probably damaging |
Het |
| Ddx31 |
A |
G |
2: 28,736,042 (GRCm39) |
M127V |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 138,990,615 (GRCm39) |
Y193C |
probably damaging |
Het |
| Dgke |
T |
A |
11: 88,941,511 (GRCm39) |
D288V |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,247,639 (GRCm39) |
L1683* |
probably null |
Het |
| Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
| E130116L18Rik |
G |
T |
5: 25,428,018 (GRCm39) |
|
probably benign |
Het |
| Eif2b5 |
G |
A |
16: 20,320,148 (GRCm39) |
V115I |
possibly damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fgfr3 |
A |
T |
5: 33,887,382 (GRCm39) |
T234S |
probably damaging |
Het |
| Gipc2 |
A |
T |
3: 151,808,299 (GRCm39) |
D251E |
possibly damaging |
Het |
| Gm11787 |
A |
C |
4: 3,511,810 (GRCm39) |
|
noncoding transcript |
Het |
| Haus6 |
A |
G |
4: 86,501,415 (GRCm39) |
Y819H |
possibly damaging |
Het |
| Homez |
G |
A |
14: 55,095,531 (GRCm39) |
A59V |
probably damaging |
Het |
| Iffo1 |
T |
C |
6: 125,129,423 (GRCm39) |
V363A |
probably benign |
Het |
| Ifit2 |
T |
A |
19: 34,551,796 (GRCm39) |
D445E |
probably benign |
Het |
| Ipo9 |
A |
C |
1: 135,317,344 (GRCm39) |
|
probably benign |
Het |
| Kcnv1 |
C |
T |
15: 44,976,640 (GRCm39) |
G216R |
probably damaging |
Het |
| Kdm6b |
A |
C |
11: 69,292,730 (GRCm39) |
|
probably benign |
Het |
| Mplkip |
T |
C |
13: 17,870,304 (GRCm39) |
S79P |
probably damaging |
Het |
| Nae1 |
T |
C |
8: 105,249,776 (GRCm39) |
|
probably benign |
Het |
| Nfe2l2 |
A |
T |
2: 75,506,353 (GRCm39) |
N582K |
possibly damaging |
Het |
| Nsmce4a |
G |
A |
7: 130,138,754 (GRCm39) |
R297C |
probably damaging |
Het |
| Or1e1f |
T |
C |
11: 73,855,632 (GRCm39) |
L66P |
probably damaging |
Het |
| Or3a1d |
T |
A |
11: 74,238,068 (GRCm39) |
D114V |
probably damaging |
Het |
| Or5p70 |
A |
T |
7: 107,994,909 (GRCm39) |
D194V |
probably damaging |
Het |
| Osbp |
T |
A |
19: 11,955,654 (GRCm39) |
F357I |
probably damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,442,979 (GRCm39) |
D763G |
possibly damaging |
Het |
| Pcdhgb2 |
A |
C |
18: 37,824,103 (GRCm39) |
I365L |
possibly damaging |
Het |
| Pde6g |
A |
G |
11: 120,338,912 (GRCm39) |
|
probably benign |
Het |
| Pigo |
C |
A |
4: 43,020,675 (GRCm39) |
V756L |
possibly damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,345,865 (GRCm39) |
T2721K |
probably benign |
Het |
| Pls1 |
A |
T |
9: 95,658,675 (GRCm39) |
|
probably null |
Het |
| Prim2 |
A |
G |
1: 33,519,397 (GRCm39) |
|
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,589,711 (GRCm39) |
I471N |
probably benign |
Het |
| Prrc2b |
C |
T |
2: 32,096,408 (GRCm39) |
T593I |
probably benign |
Het |
| Ptch2 |
C |
A |
4: 116,963,335 (GRCm39) |
|
probably benign |
Het |
| Pth |
A |
T |
7: 112,985,051 (GRCm39) |
D107E |
probably damaging |
Het |
| Pycr2 |
A |
C |
1: 180,735,188 (GRCm39) |
Q315P |
probably benign |
Het |
| Rbpj |
A |
T |
5: 53,806,782 (GRCm39) |
Y209F |
probably damaging |
Het |
| Ripk4 |
C |
A |
16: 97,544,967 (GRCm39) |
R560L |
probably damaging |
Het |
| Sdr42e1 |
T |
C |
8: 118,390,021 (GRCm39) |
R207G |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,362 (GRCm39) |
Y196C |
possibly damaging |
Het |
| Smarcc2 |
T |
C |
10: 128,316,875 (GRCm39) |
|
probably null |
Het |
| Stom |
T |
A |
2: 35,226,889 (GRCm39) |
I15F |
probably benign |
Het |
| Sugp2 |
G |
T |
8: 70,695,925 (GRCm39) |
L299F |
probably benign |
Het |
| Tbrg4 |
A |
T |
11: 6,567,516 (GRCm39) |
|
probably null |
Het |
| Tkt |
G |
T |
14: 30,287,635 (GRCm39) |
G210C |
probably damaging |
Het |
| Tmem163 |
G |
A |
1: 127,419,289 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,771,854 (GRCm39) |
I98T |
probably benign |
Het |
| Unc5b |
A |
G |
10: 60,610,419 (GRCm39) |
I466T |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,037,010 (GRCm39) |
F599L |
probably damaging |
Het |
| Vav1 |
G |
A |
17: 57,604,122 (GRCm39) |
E151K |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,840,651 (GRCm39) |
D1631A |
probably benign |
Het |
| Vmn2r4 |
A |
C |
3: 64,314,358 (GRCm39) |
S208A |
possibly damaging |
Het |
| Zfp619 |
A |
G |
7: 39,186,642 (GRCm39) |
T891A |
possibly damaging |
Het |
| Zfp672 |
A |
G |
11: 58,220,527 (GRCm39) |
|
probably benign |
Het |
| Znhit1 |
T |
A |
5: 137,011,235 (GRCm39) |
|
probably null |
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 |
|
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'- TGCCAGTGCTAATGGCTGTG -3'
(R):5'- GCTGTTTAATGCAATCCTCCAGG -3'
Sequencing Primer
(F):5'- GAATTGAACCCAGGTCCTCTG -3'
(R):5'- TCCTCCAGGGAAGGGGTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation