Incidental Mutation 'R7671:Kcp'
ID |
592159 |
Institutional Source |
Beutler Lab
|
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 # |
R7671 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
29473161-29507951 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29496516 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 633
(N633S)
|
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
AA Change: N633S
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000077251 Gene: ENSMUSG00000059022 AA Change: N633S
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
AA Change: N633S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000088954 Gene: ENSMUSG00000059022 AA Change: N633S
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
AA Change: N633S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000099135 Gene: ENSMUSG00000059022 AA Change: N633S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
C |
A |
7: 75,219,648 (GRCm39) |
T17K |
probably damaging |
Het |
Ankrd29 |
T |
A |
18: 12,394,043 (GRCm39) |
K257I |
probably damaging |
Het |
Bicc1 |
A |
G |
10: 70,792,997 (GRCm39) |
L219P |
probably benign |
Het |
Bltp1 |
T |
C |
3: 36,997,380 (GRCm39) |
F1146L |
probably damaging |
Het |
Boc |
C |
T |
16: 44,312,212 (GRCm39) |
V617M |
|
Het |
Ccl8 |
A |
G |
11: 82,006,033 (GRCm39) |
|
probably benign |
Het |
Col18a1 |
A |
G |
10: 76,921,217 (GRCm39) |
L261P |
unknown |
Het |
Col5a3 |
T |
A |
9: 20,686,382 (GRCm39) |
|
probably null |
Het |
Cryba4 |
A |
C |
5: 112,396,039 (GRCm39) |
|
probably null |
Het |
Csf2rb |
A |
G |
15: 78,223,130 (GRCm39) |
Y114C |
probably damaging |
Het |
Ctif |
T |
C |
18: 75,605,087 (GRCm39) |
D484G |
probably damaging |
Het |
Ctnnal1 |
A |
G |
4: 56,837,848 (GRCm39) |
F261L |
probably damaging |
Het |
Defb22 |
A |
T |
2: 152,327,950 (GRCm39) |
N78K |
unknown |
Het |
Dele1 |
T |
A |
18: 38,392,978 (GRCm39) |
I394N |
probably damaging |
Het |
Efr3a |
G |
A |
15: 65,709,283 (GRCm39) |
|
probably null |
Het |
Elp4 |
G |
T |
2: 105,734,826 (GRCm39) |
A3E |
probably damaging |
Het |
Emilin2 |
A |
G |
17: 71,580,905 (GRCm39) |
V607A |
probably benign |
Het |
Epsti1 |
A |
G |
14: 78,141,930 (GRCm39) |
Y2C |
probably damaging |
Het |
Fam81b |
A |
C |
13: 76,419,412 (GRCm39) |
L46R |
probably damaging |
Het |
Fam81b |
G |
T |
13: 76,419,413 (GRCm39) |
L46I |
possibly damaging |
Het |
Fbxo15 |
T |
A |
18: 84,982,278 (GRCm39) |
H288Q |
probably damaging |
Het |
Gabrg1 |
T |
A |
5: 70,973,323 (GRCm39) |
N77I |
probably damaging |
Het |
Ganab |
A |
G |
19: 8,890,216 (GRCm39) |
Y715C |
possibly damaging |
Het |
H2bc27 |
T |
C |
11: 58,840,102 (GRCm39) |
S113P |
possibly damaging |
Het |
Iqgap2 |
T |
C |
13: 95,764,627 (GRCm39) |
D1539G |
probably damaging |
Het |
Krt6a |
C |
A |
15: 101,598,978 (GRCm39) |
S529I |
unknown |
Het |
Leo1 |
A |
G |
9: 75,352,844 (GRCm39) |
H129R |
probably benign |
Het |
Lmf1 |
G |
A |
17: 25,798,323 (GRCm39) |
V55M |
possibly damaging |
Het |
Mcm9 |
A |
G |
10: 53,413,665 (GRCm39) |
S472P |
probably benign |
Het |
Med27 |
T |
A |
2: 29,267,950 (GRCm39) |
V33D |
|
Het |
Mgat4f |
T |
C |
1: 134,317,800 (GRCm39) |
C191R |
probably benign |
Het |
Mup15 |
C |
T |
4: 61,356,526 (GRCm39) |
E80K |
probably benign |
Het |
Myo18a |
G |
A |
11: 77,750,246 (GRCm39) |
R199H |
|
Het |
Nebl |
T |
A |
2: 17,395,727 (GRCm39) |
R558* |
probably null |
Het |
Or10ak8 |
A |
T |
4: 118,774,183 (GRCm39) |
H160Q |
probably benign |
Het |
Or11g7 |
G |
T |
14: 50,691,342 (GRCm39) |
V278L |
probably benign |
Het |
Or12e9 |
A |
G |
2: 87,202,613 (GRCm39) |
T246A |
probably damaging |
Het |
Or4a79 |
A |
T |
2: 89,551,603 (GRCm39) |
I284K |
probably damaging |
Het |
Or5p78 |
T |
C |
7: 108,212,198 (GRCm39) |
I228T |
probably damaging |
Het |
Or6c217 |
T |
C |
10: 129,738,222 (GRCm39) |
D119G |
probably damaging |
Het |
Or8b41 |
A |
T |
9: 38,054,736 (GRCm39) |
M97L |
probably benign |
Het |
Pde11a |
A |
T |
2: 76,045,697 (GRCm39) |
F376I |
possibly damaging |
Het |
Prima1 |
A |
T |
12: 103,201,920 (GRCm39) |
C52S |
probably damaging |
Het |
Pxn |
G |
A |
5: 115,686,606 (GRCm39) |
R366H |
not run |
Het |
Sgce |
T |
C |
6: 4,691,564 (GRCm39) |
Y337C |
probably damaging |
Het |
Slc25a10 |
T |
A |
11: 120,386,286 (GRCm39) |
M130K |
probably benign |
Het |
Slc29a2 |
A |
T |
19: 5,074,290 (GRCm39) |
N5I |
probably benign |
Het |
Slc35a1 |
A |
T |
4: 34,673,875 (GRCm39) |
H150Q |
|
Het |
Slc5a4a |
T |
A |
10: 75,983,384 (GRCm39) |
V7D |
unknown |
Het |
Stk17b |
T |
A |
1: 53,805,159 (GRCm39) |
D134V |
probably damaging |
Het |
Tex55 |
C |
T |
16: 38,648,453 (GRCm39) |
D219N |
possibly damaging |
Het |
Thbs3 |
T |
A |
3: 89,124,014 (GRCm39) |
S36T |
probably benign |
Het |
Thsd4 |
A |
G |
9: 60,335,457 (GRCm39) |
S152P |
probably benign |
Het |
Tmem67 |
G |
T |
4: 12,063,698 (GRCm39) |
H422N |
probably benign |
Het |
Tram1 |
C |
A |
1: 13,659,868 (GRCm39) |
V27F |
probably damaging |
Het |
Trim14 |
A |
G |
4: 46,507,238 (GRCm39) |
V326A |
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 |
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 |
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'- ACCATATTCCCTGACTGTGGG -3'
(R):5'- TGCAAGAATGACTGCACAGG -3'
Sequencing Primer
(F):5'- AGTCAGCAGGGGCATCTG -3'
(R):5'- TGTACCTGGCATGGAGGACTC -3'
|
Posted On |
2019-11-12 |