Incidental Mutation 'R4223:Kcp'
| ID |
319451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcp
|
| Ensembl Gene |
ENSMUSG00000059022 |
| Gene Name |
kielin/chordin-like protein |
| Synonyms |
Crim2, LOC333088, KCP |
| MMRRC Submission |
041043-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R4223 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29473161-29507951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29482257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1547
(L1547P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078112]
[ENSMUST00000091391]
[ENSMUST00000101614]
[ENSMUST00000159479]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000101614
AA Change: L1547P
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099135
Gene: ENSMUSG00000059022
AA Change: L1547P
| 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 |
noncoding transcript
Transcript: ENSMUST00000159482
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161276
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161655
|
| Meta Mutation Damage Score |
0.0813 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
98% (65/66) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
G |
10: 78,930,286 (GRCm39) |
Y43H |
probably damaging |
Het |
| Aamp |
A |
T |
1: 74,320,285 (GRCm39) |
L348Q |
probably damaging |
Het |
| Abcb1b |
T |
A |
5: 8,863,722 (GRCm39) |
L226M |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,774,511 (GRCm39) |
S396P |
probably damaging |
Het |
| Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,700,355 (GRCm39) |
D48G |
probably benign |
Het |
| Bhmt-ps1 |
T |
A |
4: 26,369,352 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc116 |
A |
G |
16: 16,964,809 (GRCm39) |
|
probably benign |
Het |
| Cmtm5 |
T |
A |
14: 55,175,376 (GRCm39) |
C51S |
probably damaging |
Het |
| Cyb5rl |
T |
C |
4: 106,938,185 (GRCm39) |
V214A |
probably damaging |
Het |
| Cyp4x1 |
A |
T |
4: 114,970,077 (GRCm39) |
I350N |
probably damaging |
Het |
| Efcab6 |
C |
A |
15: 83,751,309 (GRCm39) |
D1498Y |
probably damaging |
Het |
| Eif3c |
C |
G |
7: 126,165,471 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
G |
A |
16: 63,403,902 (GRCm39) |
S733L |
probably damaging |
Het |
| Esyt1 |
T |
C |
10: 128,356,517 (GRCm39) |
Y376C |
probably damaging |
Het |
| Galnt1 |
T |
C |
18: 24,371,413 (GRCm39) |
F4L |
probably benign |
Het |
| Glis1 |
T |
C |
4: 107,425,042 (GRCm39) |
S218P |
probably benign |
Het |
| Gm15854 |
A |
T |
6: 129,949,426 (GRCm39) |
|
noncoding transcript |
Het |
| Gm29125 |
T |
C |
1: 80,361,236 (GRCm39) |
|
noncoding transcript |
Het |
| Inpp5a |
T |
C |
7: 139,138,821 (GRCm39) |
V263A |
possibly damaging |
Het |
| Itgb1 |
T |
G |
8: 129,440,624 (GRCm39) |
I255S |
probably damaging |
Het |
| Kifc3 |
C |
A |
8: 95,836,610 (GRCm39) |
L72F |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
| Lrrc55 |
G |
A |
2: 85,026,460 (GRCm39) |
A188V |
possibly damaging |
Het |
| Ly6i |
A |
T |
15: 74,854,884 (GRCm39) |
S9T |
probably benign |
Het |
| Mfsd14b |
C |
T |
13: 65,214,422 (GRCm39) |
|
probably benign |
Het |
| Nipsnap3a |
T |
A |
4: 52,997,251 (GRCm39) |
D172E |
probably benign |
Het |
| Or4g7 |
A |
T |
2: 111,309,489 (GRCm39) |
Y120F |
probably benign |
Het |
| Oxgr1 |
T |
C |
14: 120,260,025 (GRCm39) |
K61E |
probably damaging |
Het |
| Pak2 |
G |
T |
16: 31,871,028 (GRCm39) |
N51K |
probably benign |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
| Pcolce |
T |
A |
5: 137,603,389 (GRCm39) |
|
probably benign |
Het |
| Phc3 |
A |
T |
3: 30,990,968 (GRCm39) |
S383R |
probably damaging |
Het |
| Phf1 |
C |
T |
17: 27,156,474 (GRCm39) |
R539* |
probably null |
Het |
| Plch1 |
G |
A |
3: 63,609,321 (GRCm39) |
T48I |
probably damaging |
Het |
| Plekha2 |
A |
G |
8: 25,533,036 (GRCm39) |
S312P |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,872,126 (GRCm39) |
F69L |
possibly damaging |
Het |
| Ppcdc |
T |
A |
9: 57,321,998 (GRCm39) |
M181L |
possibly damaging |
Het |
| Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
| Rfc3 |
C |
A |
5: 151,574,637 (GRCm39) |
|
probably benign |
Het |
| Rpa2 |
T |
G |
4: 132,504,055 (GRCm39) |
I69S |
probably damaging |
Het |
| Rtn4 |
G |
A |
11: 29,656,856 (GRCm39) |
V337I |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,113,708 (GRCm39) |
L1709P |
probably damaging |
Het |
| Sh2b2 |
G |
A |
5: 136,247,907 (GRCm39) |
P548L |
possibly damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,043,328 (GRCm39) |
S591T |
probably damaging |
Het |
| Slc25a45 |
A |
T |
19: 5,930,146 (GRCm39) |
I39F |
probably damaging |
Het |
| Slc38a9 |
G |
A |
13: 112,850,782 (GRCm39) |
|
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,658,286 (GRCm39) |
V603A |
probably damaging |
Het |
| Snx19 |
T |
G |
9: 30,339,744 (GRCm39) |
V294G |
possibly damaging |
Het |
| Sp140l2 |
T |
C |
1: 85,090,278 (GRCm39) |
D83G |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,428,091 (GRCm39) |
V313L |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,495,472 (GRCm39) |
T116A |
possibly damaging |
Het |
| Strn3 |
C |
T |
12: 51,674,638 (GRCm39) |
R382Q |
probably damaging |
Het |
| Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
| Trps1 |
A |
G |
15: 50,710,044 (GRCm39) |
V98A |
probably benign |
Het |
| Vmn1r220 |
T |
A |
13: 23,368,148 (GRCm39) |
M183L |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
| Wdr81 |
T |
C |
11: 75,338,828 (GRCm39) |
T1444A |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,346,837 (GRCm39) |
E3026V |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGGACTGGCATAAGATCC -3'
(R):5'- GGACCTCTGTGACATTGCTTTC -3'
Sequencing Primer
(F):5'- TGGCATAAGATCCCATTGCCTGAG -3'
(R):5'- CTCTGCCTGCAGTGGTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation