Incidental Mutation 'R8806:D130043K22Rik'
| ID |
672089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D130043K22Rik
|
| Ensembl Gene |
ENSMUSG00000006711 |
| Gene Name |
RIKEN cDNA D130043K22 gene |
| Synonyms |
Kiaa0319 |
| MMRRC Submission |
068612-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8806 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
25029118-25085253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25083618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1028
(S1028G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006893
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006893]
[ENSMUST00000141572]
|
| AlphaFold |
Q5SZV5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006893
AA Change: S1028G
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: S1028G
| 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 |
|
| Meta Mutation Damage Score |
0.0683 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,084,520 (GRCm39) |
M586V |
probably benign |
Het |
| Adam6b |
G |
A |
12: 113,455,418 (GRCm39) |
R745H |
possibly damaging |
Het |
| Afg3l1 |
A |
G |
8: 124,220,657 (GRCm39) |
D462G |
probably damaging |
Het |
| Anapc1 |
T |
A |
2: 128,464,333 (GRCm39) |
Q1721L |
possibly damaging |
Het |
| Arhgap11a |
T |
C |
2: 113,665,107 (GRCm39) |
Y497C |
possibly damaging |
Het |
| Bcl7b |
T |
G |
5: 135,208,824 (GRCm39) |
S96A |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,949,311 (GRCm39) |
V3111A |
probably damaging |
Het |
| Cbx1 |
A |
G |
11: 96,692,383 (GRCm39) |
D90G |
possibly damaging |
Het |
| Cdkl3 |
T |
C |
11: 51,923,295 (GRCm39) |
F524S |
possibly damaging |
Het |
| Cops7b |
G |
A |
1: 86,517,031 (GRCm39) |
G44R |
probably damaging |
Het |
| Decr1 |
T |
A |
4: 15,945,351 (GRCm39) |
M1L |
probably benign |
Het |
| Dmtn |
T |
C |
14: 70,852,388 (GRCm39) |
I167V |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,750,309 (GRCm39) |
L3932P |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,672,452 (GRCm39) |
I365N |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,928,695 (GRCm39) |
M4815K |
probably benign |
Het |
| Exo5 |
T |
C |
4: 120,779,602 (GRCm39) |
T88A |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,390,064 (GRCm39) |
Y1772H |
probably benign |
Het |
| Gm5160 |
A |
G |
18: 14,557,931 (GRCm39) |
N3D |
possibly damaging |
Het |
| Gm7138 |
T |
A |
10: 77,612,717 (GRCm39) |
D21V |
unknown |
Het |
| Gm7298 |
C |
A |
6: 121,761,641 (GRCm39) |
|
silent |
Het |
| Gucy2e |
A |
G |
11: 69,126,942 (GRCm39) |
V177A |
probably benign |
Het |
| Islr |
C |
A |
9: 58,064,256 (GRCm39) |
G417V |
unknown |
Het |
| Kif13a |
A |
T |
13: 46,914,813 (GRCm39) |
M1458K |
possibly damaging |
Het |
| Mcm7 |
T |
C |
5: 138,163,347 (GRCm39) |
D642G |
possibly damaging |
Het |
| Med24 |
A |
T |
11: 98,595,970 (GRCm39) |
I941N |
probably damaging |
Het |
| Mrgprb8 |
C |
T |
7: 48,038,976 (GRCm39) |
P216S |
possibly damaging |
Het |
| Myo5c |
T |
A |
9: 75,150,054 (GRCm39) |
V13D |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,965,551 (GRCm39) |
I1200K |
possibly damaging |
Het |
| Naip6 |
G |
A |
13: 100,437,161 (GRCm39) |
T454M |
possibly damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,295,213 (GRCm39) |
Y877C |
probably damaging |
Het |
| Nolc1 |
C |
A |
19: 46,071,471 (GRCm39) |
S473R |
unknown |
Het |
| Nop16 |
A |
C |
13: 54,737,672 (GRCm39) |
|
probably benign |
Het |
| Nr3c2 |
T |
C |
8: 77,969,092 (GRCm39) |
I959T |
probably damaging |
Het |
| Nup88 |
T |
G |
11: 70,834,941 (GRCm39) |
K692N |
probably benign |
Het |
| Nvl |
C |
A |
1: 180,922,619 (GRCm39) |
G818V |
probably benign |
Het |
| Or1i2 |
G |
T |
10: 78,447,974 (GRCm39) |
T167N |
probably benign |
Het |
| Or4k6 |
T |
A |
14: 50,475,376 (GRCm39) |
E322V |
probably benign |
Het |
| Or4n4 |
A |
G |
14: 50,519,236 (GRCm39) |
I158T |
probably benign |
Het |
| Or4s2b |
T |
C |
2: 88,508,955 (GRCm39) |
V245A |
probably benign |
Het |
| Or8b49 |
A |
T |
9: 38,506,405 (GRCm39) |
D296V |
probably damaging |
Het |
| Or8k1 |
T |
C |
2: 86,047,200 (GRCm39) |
I285V |
probably damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,635,140 (GRCm39) |
S1362L |
probably damaging |
Het |
| Ppfia2 |
C |
T |
10: 106,694,114 (GRCm39) |
A696V |
probably damaging |
Het |
| Prl |
A |
G |
13: 27,243,515 (GRCm39) |
Y62C |
probably damaging |
Het |
| Rnf135 |
A |
G |
11: 80,089,762 (GRCm39) |
D366G |
probably damaging |
Het |
| Rrp8 |
A |
G |
7: 105,384,244 (GRCm39) |
L86P |
probably damaging |
Het |
| Rsph4a |
T |
C |
10: 33,785,445 (GRCm39) |
V452A |
probably damaging |
Het |
| Runx2 |
C |
A |
17: 44,950,570 (GRCm39) |
V410L |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,376,665 (GRCm39) |
T199A |
probably damaging |
Het |
| Sik3 |
T |
C |
9: 46,120,365 (GRCm39) |
S745P |
probably damaging |
Het |
| Slc35e1 |
T |
A |
8: 73,241,973 (GRCm39) |
S250C |
probably damaging |
Het |
| Snx31 |
A |
G |
15: 36,537,698 (GRCm39) |
F160S |
probably damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,261 (GRCm39) |
D198G |
probably benign |
Het |
| Stim2 |
T |
A |
5: 54,156,257 (GRCm39) |
V11E |
probably benign |
Het |
| Tektl1 |
A |
G |
10: 78,588,306 (GRCm39) |
V168A |
probably damaging |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tox4 |
T |
C |
14: 52,524,318 (GRCm39) |
S151P |
probably damaging |
Het |
| Trim34b |
A |
T |
7: 103,985,319 (GRCm39) |
D318V |
probably damaging |
Het |
| Ubtd1 |
T |
C |
19: 42,022,195 (GRCm39) |
S156P |
probably damaging |
Het |
| Usp34 |
C |
A |
11: 23,434,143 (GRCm39) |
L3240M |
|
Het |
| Vmn1r56 |
T |
C |
7: 5,198,805 (GRCm39) |
S271G |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,472,212 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,853,110 (GRCm39) |
F2401S |
probably damaging |
Het |
| Zbtb11 |
G |
A |
16: 55,802,637 (GRCm39) |
V216I |
probably damaging |
Het |
| Zfp931 |
T |
C |
2: 177,709,589 (GRCm39) |
T266A |
possibly damaging |
Het |
| Zfp956 |
A |
G |
6: 47,933,042 (GRCm39) |
M106V |
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 |
|
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 |
|
|
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'- AGGTTGACTGACACCTGCAG -3'
(R):5'- TCTGCCTAGTACTGAGCCAC -3'
Sequencing Primer
(F):5'- ACTGACACCTGCAGCCTCTG -3'
(R):5'- GGCTCACAAGGTCTCTCCACAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation