Incidental Mutation 'R5493:D130043K22Rik'
ID |
432197 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D130043K22Rik
|
Ensembl Gene |
ENSMUSG00000006711 |
Gene Name |
RIKEN cDNA D130043K22 gene |
Synonyms |
Kiaa0319 |
MMRRC Submission |
043054-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5493 (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 25047586 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 377
(Y377C)
|
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: Y377C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006893 Gene: ENSMUSG00000006711 AA Change: Y377C
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: Y377C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116004 Gene: ENSMUSG00000006711 AA Change: Y377C
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 |
0.6102 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
Validation Efficiency |
99% (80/81) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510009E07Rik |
A |
G |
16: 21,471,993 (GRCm39) |
S236P |
possibly damaging |
Het |
A830018L16Rik |
C |
T |
1: 11,615,431 (GRCm39) |
R135C |
probably damaging |
Het |
Agpat3 |
A |
G |
10: 78,120,069 (GRCm39) |
V155A |
possibly damaging |
Het |
Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
Aloxe3 |
A |
T |
11: 69,019,443 (GRCm39) |
R119* |
probably null |
Het |
Asap1 |
A |
G |
15: 64,002,000 (GRCm39) |
V460A |
possibly damaging |
Het |
Bicral |
C |
A |
17: 47,112,620 (GRCm39) |
R860L |
possibly damaging |
Het |
Cd180 |
T |
A |
13: 102,842,649 (GRCm39) |
I565N |
probably benign |
Het |
Cdk13 |
T |
C |
13: 17,978,147 (GRCm39) |
|
probably benign |
Het |
Cdkn2d |
T |
C |
9: 21,200,303 (GRCm39) |
D156G |
probably benign |
Het |
Clrn1 |
A |
G |
3: 58,753,837 (GRCm39) |
S175P |
probably damaging |
Het |
Coro7 |
A |
G |
16: 4,450,351 (GRCm39) |
L535S |
probably damaging |
Het |
Cse1l |
A |
G |
2: 166,783,110 (GRCm39) |
|
probably benign |
Het |
Cyp2a12 |
T |
C |
7: 26,728,550 (GRCm39) |
L7P |
unknown |
Het |
Dctn1 |
G |
T |
6: 83,159,546 (GRCm39) |
R8L |
possibly damaging |
Het |
Duox2 |
T |
C |
2: 122,111,977 (GRCm39) |
Q1341R |
probably damaging |
Het |
Eif2b3 |
A |
G |
4: 116,943,919 (GRCm39) |
D447G |
possibly damaging |
Het |
Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
Fbxw25 |
T |
C |
9: 109,481,984 (GRCm39) |
Y234C |
probably benign |
Het |
Gcnt2 |
A |
G |
13: 41,107,076 (GRCm39) |
N315S |
possibly damaging |
Het |
Gm20730 |
A |
T |
6: 43,058,746 (GRCm39) |
V22E |
possibly damaging |
Het |
Gm4847 |
T |
A |
1: 166,457,890 (GRCm39) |
I488F |
probably damaging |
Het |
Gmds |
A |
T |
13: 32,124,488 (GRCm39) |
M290K |
probably benign |
Het |
Gtf3c1 |
T |
C |
7: 125,269,716 (GRCm39) |
N699S |
probably damaging |
Het |
Hk3 |
A |
G |
13: 55,158,984 (GRCm39) |
V479A |
probably damaging |
Het |
Ifnlr1 |
G |
A |
4: 135,432,877 (GRCm39) |
V438M |
probably benign |
Het |
Il12rb1 |
C |
A |
8: 71,262,483 (GRCm39) |
P26T |
probably benign |
Het |
Il4i1 |
G |
T |
7: 44,489,477 (GRCm39) |
R414L |
possibly damaging |
Het |
Ipo4 |
T |
C |
14: 55,868,327 (GRCm39) |
N490S |
probably benign |
Het |
Kcnmb2 |
A |
G |
3: 32,252,291 (GRCm39) |
E164G |
probably damaging |
Het |
Kcns1 |
G |
A |
2: 164,009,899 (GRCm39) |
L287F |
probably benign |
Het |
Kdm1a |
ACC |
AC |
4: 136,284,732 (GRCm39) |
|
probably null |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Knl1 |
T |
A |
2: 118,899,211 (GRCm39) |
I304K |
probably damaging |
Het |
Ksr2 |
G |
T |
5: 117,846,175 (GRCm39) |
V681F |
probably damaging |
Het |
Lypd2 |
T |
C |
15: 74,606,127 (GRCm39) |
T4A |
probably benign |
Het |
Man1a |
A |
G |
10: 53,950,576 (GRCm39) |
V182A |
probably benign |
Het |
Or12j4 |
A |
T |
7: 140,046,720 (GRCm39) |
D202V |
probably damaging |
Het |
Or13e8 |
A |
G |
4: 43,696,225 (GRCm39) |
F316S |
possibly damaging |
Het |
Or2w2 |
A |
T |
13: 21,758,042 (GRCm39) |
C195S |
probably damaging |
Het |
Or51f5 |
A |
T |
7: 102,424,315 (GRCm39) |
R195W |
probably benign |
Het |
Or56b1b |
T |
C |
7: 108,164,774 (GRCm39) |
D76G |
probably benign |
Het |
Pcdha2 |
C |
A |
18: 37,072,562 (GRCm39) |
F64L |
probably damaging |
Het |
Pgap3 |
G |
C |
11: 98,281,540 (GRCm39) |
F168L |
possibly damaging |
Het |
Pip5k1b |
T |
C |
19: 24,416,439 (GRCm39) |
N16S |
probably benign |
Het |
Ppip5k1 |
T |
A |
2: 121,167,253 (GRCm39) |
H41L |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 5,159,702 (GRCm39) |
R1080G |
probably damaging |
Het |
Qrich2 |
A |
C |
11: 116,336,774 (GRCm39) |
|
probably null |
Het |
Rbl2 |
C |
T |
8: 91,842,447 (GRCm39) |
P1034L |
probably damaging |
Het |
Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
Rin2 |
A |
G |
2: 145,702,629 (GRCm39) |
S442G |
probably damaging |
Het |
Rtca |
C |
T |
3: 116,293,280 (GRCm39) |
R71Q |
probably benign |
Het |
Serpind1 |
A |
T |
16: 17,157,902 (GRCm39) |
N366I |
probably damaging |
Het |
Shox2 |
C |
G |
3: 66,888,796 (GRCm39) |
G32R |
probably damaging |
Het |
Sp3 |
T |
A |
2: 72,768,466 (GRCm39) |
N766Y |
probably damaging |
Het |
Spag7 |
T |
A |
11: 70,560,059 (GRCm39) |
S17C |
probably null |
Het |
Stk25 |
A |
T |
1: 93,563,031 (GRCm39) |
F7I |
probably benign |
Het |
Tbx15 |
G |
A |
3: 99,259,880 (GRCm39) |
G584S |
probably benign |
Het |
Tenm2 |
T |
C |
11: 36,755,503 (GRCm39) |
D165G |
probably benign |
Het |
Tox2 |
C |
A |
2: 163,046,649 (GRCm39) |
S42* |
probably null |
Het |
Vmn1r39 |
A |
G |
6: 66,781,754 (GRCm39) |
V188A |
probably damaging |
Het |
Zbtb5 |
A |
T |
4: 44,993,941 (GRCm39) |
M481K |
probably benign |
Het |
Zfp26 |
T |
C |
9: 20,355,615 (GRCm39) |
T56A |
possibly damaging |
Het |
Zfp459 |
C |
A |
13: 67,556,498 (GRCm39) |
C195F |
probably damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
Zfp764 |
A |
G |
7: 127,004,105 (GRCm39) |
I342T |
probably benign |
Het |
Zfp942 |
T |
C |
17: 22,151,985 (GRCm39) |
N7D |
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 |
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 |
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'- TTGCAAAGACACAGAGACCG -3'
(R):5'- ATCATCCATCTGCCTGATTGAG -3'
Sequencing Primer
(F):5'- AGAGACCGGAGATTCCTCTC -3'
(R):5'- CTGACCTTGAACTTCTAGGACGAAG -3'
|
Posted On |
2016-10-05 |