Incidental Mutation 'IGL01344:Kcp'
| ID |
75004 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcp
|
| Ensembl Gene |
ENSMUSG00000059022 |
| Gene Name |
kielin/chordin-like protein |
| Synonyms |
Crim2, LOC333088, KCP |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
IGL01344
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
29473161-29507951 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 29498950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078112]
[ENSMUST00000091391]
[ENSMUST00000101614]
[ENSMUST00000159479]
[ENSMUST00000161237]
|
| AlphaFold |
Q3U492 |
| Predicted Effect |
probably null
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 null
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 |
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930518I15Rik |
A |
G |
2: 156,699,020 (GRCm39) |
|
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,923,139 (GRCm39) |
K237R |
possibly damaging |
Het |
| Antxrl |
A |
C |
14: 33,797,554 (GRCm39) |
M510L |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,214,588 (GRCm39) |
D417G |
probably benign |
Het |
| C3 |
T |
G |
17: 57,531,880 (GRCm39) |
N250T |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,575,629 (GRCm39) |
I1073K |
probably benign |
Het |
| Ccin |
A |
T |
4: 43,984,069 (GRCm39) |
N159Y |
probably damaging |
Het |
| Cep76 |
T |
C |
18: 67,756,467 (GRCm39) |
T455A |
possibly damaging |
Het |
| Chaf1a |
T |
A |
17: 56,371,104 (GRCm39) |
V663E |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,079,052 (GRCm39) |
F454S |
probably damaging |
Het |
| Cimip2a |
A |
T |
2: 25,110,345 (GRCm39) |
I86F |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,642,360 (GRCm39) |
|
probably null |
Het |
| Ctcfl |
G |
T |
2: 172,936,527 (GRCm39) |
A615E |
possibly damaging |
Het |
| Edaradd |
T |
C |
13: 12,493,371 (GRCm39) |
D107G |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,330,688 (GRCm39) |
|
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,136,169 (GRCm39) |
|
probably null |
Het |
| Fahd2a |
T |
C |
2: 127,283,987 (GRCm39) |
K18E |
probably benign |
Het |
| Fbxl20 |
A |
T |
11: 97,990,926 (GRCm39) |
C147* |
probably null |
Het |
| Gsap |
G |
T |
5: 21,447,881 (GRCm39) |
|
probably null |
Het |
| Gtse1 |
A |
T |
15: 85,746,267 (GRCm39) |
|
probably null |
Het |
| Llgl2 |
A |
G |
11: 115,742,019 (GRCm39) |
D687G |
probably benign |
Het |
| Mcpt8 |
T |
A |
14: 56,321,402 (GRCm39) |
I21F |
probably damaging |
Het |
| Met |
C |
A |
6: 17,547,031 (GRCm39) |
S888Y |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,900,503 (GRCm39) |
T663A |
probably damaging |
Het |
| Ngf |
A |
G |
3: 102,427,628 (GRCm39) |
T130A |
probably benign |
Het |
| Otud7b |
T |
A |
3: 96,058,297 (GRCm39) |
|
probably benign |
Het |
| Preb |
C |
T |
5: 31,113,388 (GRCm39) |
V349M |
probably damaging |
Het |
| Prmt1 |
G |
T |
7: 44,627,059 (GRCm39) |
|
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,294,342 (GRCm39) |
D355G |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 161,393,737 (GRCm39) |
D1209V |
probably damaging |
Het |
| Rigi |
G |
A |
4: 40,208,883 (GRCm39) |
T698I |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,080,958 (GRCm39) |
N925S |
probably benign |
Het |
| Skint3 |
T |
A |
4: 112,147,519 (GRCm39) |
M414K |
possibly damaging |
Het |
| Skor1 |
A |
T |
9: 63,049,560 (GRCm39) |
S787R |
possibly damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,940,856 (GRCm39) |
I288N |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,790,059 (GRCm39) |
|
probably benign |
Het |
| Tpp2 |
C |
T |
1: 44,022,422 (GRCm39) |
T940I |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,972,739 (GRCm39) |
I278N |
probably damaging |
Het |
| Umodl1 |
G |
A |
17: 31,215,238 (GRCm39) |
V1021I |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,236,582 (GRCm39) |
S1059P |
possibly damaging |
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 |
|
|
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 |
|
R5253:Kcp
|
UTSW |
6 |
29,498,519 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation