Incidental Mutation 'R5253:Kcp'
ID |
399195 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcp
|
Ensembl Gene |
ENSMUSG00000059022 |
Gene Name |
kielin/chordin-like protein |
Synonyms |
Crim2, LOC333088, KCP |
MMRRC Submission |
042824-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R5253 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
29473161-29507951 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to T
at 29498519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124097
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078112]
[ENSMUST00000091391]
[ENSMUST00000101614]
[ENSMUST00000159479]
[ENSMUST00000161237]
|
AlphaFold |
Q3U492 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078112
|
SMART Domains |
Protein: ENSMUSP00000077251 Gene: ENSMUSG00000059022
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
64 |
91 |
7e-3 |
SMART |
VWC
|
136 |
190 |
1.41e-13 |
SMART |
VWC
|
194 |
250 |
1.24e-9 |
SMART |
VWC
|
255 |
311 |
4.55e-8 |
SMART |
VWC
|
314 |
369 |
8.88e-11 |
SMART |
VWC
|
428 |
484 |
9.15e-13 |
SMART |
VWC
|
487 |
543 |
7.61e-10 |
SMART |
VWC
|
546 |
601 |
4.05e-5 |
SMART |
VWC
|
604 |
660 |
8.28e-11 |
SMART |
VWC
|
667 |
723 |
6.58e-5 |
SMART |
VWC
|
726 |
780 |
2.14e-4 |
SMART |
VWC
|
783 |
839 |
1.98e-8 |
SMART |
VWC
|
842 |
898 |
1.35e-1 |
SMART |
VWC
|
901 |
957 |
5.77e-10 |
SMART |
VWC
|
960 |
1015 |
1.21e-3 |
SMART |
VWC
|
1018 |
1083 |
2.44e-8 |
SMART |
VWC
|
1090 |
1143 |
1.05e-3 |
SMART |
VWC
|
1150 |
1207 |
2.93e-11 |
SMART |
Pfam:VWD
|
1214 |
1254 |
4.9e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091391
|
SMART Domains |
Protein: ENSMUSP00000088954 Gene: ENSMUSG00000059022
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
64 |
91 |
7e-3 |
SMART |
VWC
|
136 |
190 |
1.41e-13 |
SMART |
VWC
|
194 |
250 |
1.24e-9 |
SMART |
VWC
|
255 |
311 |
4.55e-8 |
SMART |
VWC
|
314 |
369 |
8.88e-11 |
SMART |
VWC
|
428 |
484 |
9.15e-13 |
SMART |
VWC
|
487 |
543 |
7.61e-10 |
SMART |
VWC
|
546 |
601 |
4.05e-5 |
SMART |
VWC
|
604 |
660 |
8.28e-11 |
SMART |
VWC
|
667 |
723 |
6.58e-5 |
SMART |
VWC
|
726 |
780 |
2.14e-4 |
SMART |
VWC
|
783 |
839 |
1.98e-8 |
SMART |
VWC
|
842 |
898 |
1.35e-1 |
SMART |
VWC
|
901 |
957 |
5.77e-10 |
SMART |
VWC
|
960 |
1015 |
1.21e-3 |
SMART |
VWC
|
1018 |
1082 |
6.53e-9 |
SMART |
VWC
|
1089 |
1142 |
1.05e-3 |
SMART |
VWC
|
1149 |
1206 |
2.93e-11 |
SMART |
Pfam:VWD
|
1213 |
1253 |
4.6e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101614
|
SMART Domains |
Protein: ENSMUSP00000099135 Gene: ENSMUSG00000059022
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
64 |
91 |
8e-3 |
SMART |
VWC
|
136 |
190 |
1.41e-13 |
SMART |
VWC
|
194 |
250 |
1.24e-9 |
SMART |
VWC
|
255 |
311 |
4.55e-8 |
SMART |
VWC
|
314 |
369 |
8.88e-11 |
SMART |
VWC
|
428 |
484 |
9.15e-13 |
SMART |
VWC
|
487 |
543 |
7.61e-10 |
SMART |
VWC
|
546 |
601 |
4.05e-5 |
SMART |
VWC
|
604 |
660 |
8.28e-11 |
SMART |
VWC
|
667 |
723 |
6.58e-5 |
SMART |
VWC
|
726 |
780 |
2.14e-4 |
SMART |
VWC
|
783 |
839 |
1.98e-8 |
SMART |
VWC
|
842 |
898 |
1.35e-1 |
SMART |
VWC
|
901 |
957 |
5.77e-10 |
SMART |
VWC
|
960 |
1015 |
1.21e-3 |
SMART |
VWC
|
1018 |
1083 |
2.44e-8 |
SMART |
VWC
|
1090 |
1143 |
1.05e-3 |
SMART |
VWC
|
1150 |
1207 |
2.93e-11 |
SMART |
VWD
|
1201 |
1362 |
6.09e-50 |
SMART |
C8
|
1404 |
1479 |
1.55e-34 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159479
|
SMART Domains |
Protein: ENSMUSP00000124771 Gene: ENSMUSG00000059022
Domain | Start | End | E-Value | Type |
VWC
|
1 |
51 |
4.56e-1 |
SMART |
VWC
|
54 |
110 |
1.98e-8 |
SMART |
VWC
|
113 |
169 |
1.35e-1 |
SMART |
VWC
|
172 |
228 |
5.77e-10 |
SMART |
VWC
|
231 |
286 |
1.21e-3 |
SMART |
VWC
|
289 |
353 |
6.53e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160181
|
SMART Domains |
Protein: ENSMUSP00000125699 Gene: ENSMUSG00000059022
Domain | Start | End | E-Value | Type |
VWC
|
18 |
74 |
1.24e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161237
|
SMART Domains |
Protein: ENSMUSP00000124097 Gene: ENSMUSG00000059022
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
coiled coil region
|
60 |
92 |
N/A |
INTRINSIC |
internal_repeat_1
|
94 |
117 |
8.56e-6 |
PROSPERO |
internal_repeat_1
|
136 |
159 |
8.56e-6 |
PROSPERO |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162959
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
99% (72/73) |
MGI Phenotype |
PHENOTYPE: Homozygous null mice display increased sensitivity to renal injury. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J11Rik |
T |
C |
9: 39,962,746 (GRCm39) |
|
noncoding transcript |
Het |
Actrt2 |
A |
C |
4: 154,752,026 (GRCm39) |
S37A |
possibly damaging |
Het |
Adcy7 |
T |
C |
8: 89,040,742 (GRCm39) |
I327T |
probably damaging |
Het |
Ankrd13b |
A |
G |
11: 77,364,061 (GRCm39) |
|
probably benign |
Het |
Arap1 |
A |
C |
7: 101,037,851 (GRCm39) |
I237L |
probably benign |
Het |
Arhgap17 |
A |
T |
7: 122,902,971 (GRCm39) |
Y359N |
probably benign |
Het |
Atad1 |
A |
G |
19: 32,651,702 (GRCm39) |
M343T |
probably benign |
Het |
Cacna1b |
A |
T |
2: 24,609,964 (GRCm39) |
I392N |
probably damaging |
Het |
Cacna1c |
A |
G |
6: 118,574,930 (GRCm39) |
S1914P |
probably benign |
Het |
Cd300a |
G |
T |
11: 114,785,577 (GRCm39) |
R174L |
probably benign |
Het |
Dip2a |
G |
A |
10: 76,135,831 (GRCm39) |
P356L |
probably damaging |
Het |
Dsg1c |
T |
C |
18: 20,405,436 (GRCm39) |
L283P |
probably damaging |
Het |
Dusp1 |
T |
C |
17: 26,727,191 (GRCm39) |
N36S |
probably benign |
Het |
Dync2i2 |
T |
A |
2: 29,922,375 (GRCm39) |
|
probably benign |
Het |
Ercc3 |
C |
A |
18: 32,402,917 (GRCm39) |
P776Q |
probably damaging |
Het |
Etv1 |
A |
G |
12: 38,902,248 (GRCm39) |
R260G |
possibly damaging |
Het |
Fa2h |
C |
G |
8: 112,075,869 (GRCm39) |
M251I |
probably benign |
Het |
Fcsk |
T |
C |
8: 111,610,499 (GRCm39) |
E968G |
possibly damaging |
Het |
Flg2 |
A |
G |
3: 93,108,119 (GRCm39) |
D49G |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,888,884 (GRCm39) |
E2810G |
probably damaging |
Het |
Gabbr1 |
T |
C |
17: 37,366,805 (GRCm39) |
F343S |
possibly damaging |
Het |
Gdf2 |
A |
G |
14: 33,667,264 (GRCm39) |
T329A |
probably benign |
Het |
Hcn4 |
T |
A |
9: 58,731,558 (GRCm39) |
I255N |
unknown |
Het |
Hk3 |
T |
G |
13: 55,158,824 (GRCm39) |
D485A |
probably damaging |
Het |
Hook3 |
T |
C |
8: 26,562,319 (GRCm39) |
T249A |
probably benign |
Het |
Kifc2 |
G |
T |
15: 76,550,481 (GRCm39) |
R515L |
possibly damaging |
Het |
Kiss1r |
A |
G |
10: 79,756,584 (GRCm39) |
Y142C |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Klrb1a |
T |
A |
6: 128,596,126 (GRCm39) |
I72L |
probably benign |
Het |
Lep |
T |
A |
6: 29,070,862 (GRCm39) |
F62Y |
probably damaging |
Het |
Lrtm1 |
A |
G |
14: 28,743,801 (GRCm39) |
T90A |
probably benign |
Het |
Mug1 |
A |
T |
6: 121,865,872 (GRCm39) |
D1472V |
probably benign |
Het |
Ncor2 |
G |
T |
5: 125,103,994 (GRCm39) |
P1988Q |
probably benign |
Het |
Nlrp4a |
C |
T |
7: 26,149,917 (GRCm39) |
S508L |
probably benign |
Het |
Obp2b |
T |
A |
2: 25,627,155 (GRCm39) |
D29E |
probably benign |
Het |
Or10ag2 |
G |
A |
2: 87,249,012 (GRCm39) |
V207M |
possibly damaging |
Het |
Or4c109 |
A |
G |
2: 88,818,444 (GRCm39) |
L34P |
possibly damaging |
Het |
Or4c119 |
A |
T |
2: 88,986,801 (GRCm39) |
C239* |
probably null |
Het |
Or4k15b |
T |
C |
14: 50,272,745 (GRCm39) |
I38M |
possibly damaging |
Het |
Or6c3b |
A |
G |
10: 129,527,601 (GRCm39) |
I103T |
probably damaging |
Het |
Otof |
A |
G |
5: 30,527,483 (GRCm39) |
S1985P |
probably damaging |
Het |
Oxct2a |
A |
T |
4: 123,216,886 (GRCm39) |
V165E |
probably damaging |
Het |
Pcdhgb7 |
T |
C |
18: 37,886,150 (GRCm39) |
V440A |
possibly damaging |
Het |
Pelp1 |
C |
A |
11: 70,292,487 (GRCm39) |
G211C |
probably damaging |
Het |
Phox2a |
A |
G |
7: 101,471,312 (GRCm39) |
H268R |
probably benign |
Het |
Pik3c2g |
T |
C |
6: 139,841,983 (GRCm39) |
|
probably null |
Het |
Pramel1 |
T |
A |
4: 143,125,156 (GRCm39) |
M360K |
probably benign |
Het |
Rbm6 |
C |
T |
9: 107,729,856 (GRCm39) |
R132K |
probably damaging |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc45a1 |
T |
C |
4: 150,722,727 (GRCm39) |
T386A |
probably damaging |
Het |
Smad2 |
A |
G |
18: 76,421,124 (GRCm39) |
Y151C |
probably damaging |
Het |
Sptbn2 |
G |
A |
19: 4,800,110 (GRCm39) |
G2188D |
probably benign |
Het |
Sugt1 |
G |
A |
14: 79,840,341 (GRCm39) |
|
probably null |
Het |
Tctn3 |
T |
C |
19: 40,595,685 (GRCm39) |
S367G |
probably benign |
Het |
Tead1 |
G |
T |
7: 112,460,752 (GRCm39) |
D219Y |
probably damaging |
Het |
Tenm2 |
G |
T |
11: 35,938,028 (GRCm39) |
Y1548* |
probably null |
Het |
Tenm3 |
T |
A |
8: 48,682,233 (GRCm39) |
I2466F |
possibly damaging |
Het |
Tent4b |
C |
A |
8: 88,926,651 (GRCm39) |
H20Q |
possibly damaging |
Het |
Tgm2 |
G |
A |
2: 157,971,358 (GRCm39) |
P294S |
probably damaging |
Het |
Tns2 |
T |
C |
15: 102,019,888 (GRCm39) |
S585P |
probably damaging |
Het |
Ttc41 |
A |
G |
10: 86,566,806 (GRCm39) |
K491E |
probably benign |
Het |
Ttn |
G |
A |
2: 76,621,895 (GRCm39) |
T15549I |
probably damaging |
Het |
Vmn1r157 |
T |
C |
7: 22,461,183 (GRCm39) |
L21P |
probably damaging |
Het |
Vmn2r81 |
A |
G |
10: 79,083,820 (GRCm39) |
M65V |
probably benign |
Het |
Zcchc14 |
T |
C |
8: 122,345,433 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Kcp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00474:Kcp
|
APN |
6 |
29,482,656 (GRCm39) |
missense |
probably benign |
|
IGL01344:Kcp
|
APN |
6 |
29,498,950 (GRCm39) |
splice site |
probably null |
|
IGL01404:Kcp
|
APN |
6 |
29,496,638 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01735:Kcp
|
APN |
6 |
29,498,878 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01776:Kcp
|
APN |
6 |
29,497,907 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02092:Kcp
|
APN |
6 |
29,489,031 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02252:Kcp
|
APN |
6 |
29,504,548 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02690:Kcp
|
APN |
6 |
29,484,998 (GRCm39) |
unclassified |
probably benign |
|
IGL02817:Kcp
|
APN |
6 |
29,496,968 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03074:Kcp
|
APN |
6 |
29,496,630 (GRCm39) |
missense |
probably damaging |
1.00 |
P0045:Kcp
|
UTSW |
6 |
29,498,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R0219:Kcp
|
UTSW |
6 |
29,495,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R0355:Kcp
|
UTSW |
6 |
29,496,926 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0738:Kcp
|
UTSW |
6 |
29,490,438 (GRCm39) |
missense |
probably benign |
0.24 |
R1111:Kcp
|
UTSW |
6 |
29,485,422 (GRCm39) |
missense |
probably benign |
|
R1304:Kcp
|
UTSW |
6 |
29,501,291 (GRCm39) |
unclassified |
probably benign |
|
R1663:Kcp
|
UTSW |
6 |
29,498,964 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1808:Kcp
|
UTSW |
6 |
29,505,654 (GRCm39) |
missense |
probably benign |
0.05 |
R1907:Kcp
|
UTSW |
6 |
29,497,834 (GRCm39) |
unclassified |
probably benign |
|
R2030:Kcp
|
UTSW |
6 |
29,489,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R2099:Kcp
|
UTSW |
6 |
29,496,164 (GRCm39) |
nonsense |
probably null |
|
R3411:Kcp
|
UTSW |
6 |
29,482,845 (GRCm39) |
missense |
possibly damaging |
0.68 |
R3982:Kcp
|
UTSW |
6 |
29,484,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R3983:Kcp
|
UTSW |
6 |
29,484,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R4223:Kcp
|
UTSW |
6 |
29,482,257 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4377:Kcp
|
UTSW |
6 |
29,493,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R4570:Kcp
|
UTSW |
6 |
29,491,847 (GRCm39) |
nonsense |
probably null |
|
R4624:Kcp
|
UTSW |
6 |
29,482,813 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4694:Kcp
|
UTSW |
6 |
29,493,196 (GRCm39) |
missense |
probably benign |
0.29 |
R4750:Kcp
|
UTSW |
6 |
29,484,625 (GRCm39) |
missense |
probably benign |
0.03 |
R4968:Kcp
|
UTSW |
6 |
29,497,628 (GRCm39) |
nonsense |
probably null |
|
R5053:Kcp
|
UTSW |
6 |
29,496,957 (GRCm39) |
missense |
probably benign |
0.01 |
R5067:Kcp
|
UTSW |
6 |
29,492,107 (GRCm39) |
missense |
probably benign |
0.06 |
R5418:Kcp
|
UTSW |
6 |
29,504,283 (GRCm39) |
nonsense |
probably null |
|
R6020:Kcp
|
UTSW |
6 |
29,502,863 (GRCm39) |
missense |
probably benign |
0.03 |
R6033:Kcp
|
UTSW |
6 |
29,493,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R6033:Kcp
|
UTSW |
6 |
29,493,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R6088:Kcp
|
UTSW |
6 |
29,502,631 (GRCm39) |
missense |
probably benign |
|
R6178:Kcp
|
UTSW |
6 |
29,482,887 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6285:Kcp
|
UTSW |
6 |
29,502,364 (GRCm39) |
missense |
probably benign |
0.21 |
R6310:Kcp
|
UTSW |
6 |
29,493,257 (GRCm39) |
missense |
probably damaging |
0.98 |
R6369:Kcp
|
UTSW |
6 |
29,484,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R6860:Kcp
|
UTSW |
6 |
29,505,719 (GRCm39) |
missense |
probably benign |
0.19 |
R6949:Kcp
|
UTSW |
6 |
29,484,611 (GRCm39) |
splice site |
probably null |
|
R6962:Kcp
|
UTSW |
6 |
29,482,839 (GRCm39) |
missense |
probably benign |
0.08 |
R7006:Kcp
|
UTSW |
6 |
29,499,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R7138:Kcp
|
UTSW |
6 |
29,491,861 (GRCm39) |
nonsense |
probably null |
|
R7141:Kcp
|
UTSW |
6 |
29,487,511 (GRCm39) |
nonsense |
probably null |
|
R7153:Kcp
|
UTSW |
6 |
29,499,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R7162:Kcp
|
UTSW |
6 |
29,497,199 (GRCm39) |
splice site |
probably null |
|
R7334:Kcp
|
UTSW |
6 |
29,485,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R7565:Kcp
|
UTSW |
6 |
29,499,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R7671:Kcp
|
UTSW |
6 |
29,496,516 (GRCm39) |
missense |
probably benign |
0.02 |
R7766:Kcp
|
UTSW |
6 |
29,496,846 (GRCm39) |
missense |
probably damaging |
0.98 |
R7781:Kcp
|
UTSW |
6 |
29,497,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R8702:Kcp
|
UTSW |
6 |
29,482,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R9384:Kcp
|
UTSW |
6 |
29,496,618 (GRCm39) |
critical splice donor site |
probably null |
|
R9425:Kcp
|
UTSW |
6 |
29,489,151 (GRCm39) |
missense |
probably benign |
|
R9553:Kcp
|
UTSW |
6 |
29,485,100 (GRCm39) |
missense |
probably null |
1.00 |
R9752:Kcp
|
UTSW |
6 |
29,497,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R9755:Kcp
|
UTSW |
6 |
29,492,460 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Kcp
|
UTSW |
6 |
29,485,011 (GRCm39) |
missense |
probably benign |
0.23 |
Z1177:Kcp
|
UTSW |
6 |
29,485,524 (GRCm39) |
missense |
probably benign |
0.45 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGCAGTCCTGTTCTTCAC -3'
(R):5'- AACTAGGGACAGGCTCTGGATG -3'
Sequencing Primer
(F):5'- AGGATTGACTCAGAGCTG -3'
(R):5'- GTGAGCTCTGATTGCCTTGCAC -3'
|
Posted On |
2016-07-06 |