Incidental Mutation 'R0219:Kcp'
ID |
33720 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcp
|
Ensembl Gene |
ENSMUSG00000059022 |
Gene Name |
kielin/chordin-like protein |
Synonyms |
Crim2, LOC333088, KCP |
MMRRC Submission |
038468-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R0219 (G1)
|
Quality Score |
139 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
29473161-29507951 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29495784 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 773
(R773W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078112]
[ENSMUST00000091391]
[ENSMUST00000101614]
[ENSMUST00000159479]
|
AlphaFold |
Q3U492 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078112
AA Change: R773W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000077251 Gene: ENSMUSG00000059022 AA Change: R773W
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 damaging
Transcript: ENSMUST00000091391
AA Change: R773W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000088954 Gene: ENSMUSG00000059022 AA Change: R773W
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 damaging
Transcript: ENSMUST00000101614
AA Change: R773W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099135 Gene: ENSMUSG00000059022 AA Change: R773W
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 damaging
Transcript: ENSMUST00000159479
AA Change: R44W
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124771 Gene: ENSMUSG00000059022 AA Change: R44W
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 |
noncoding transcript
Transcript: ENSMUST00000162959
|
Meta Mutation Damage Score |
0.2515 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.3%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
T |
12: 118,849,885 (GRCm39) |
|
probably benign |
Het |
Acacb |
T |
A |
5: 114,371,005 (GRCm39) |
M1749K |
possibly damaging |
Het |
Aff1 |
GCTCTCTCTC |
GCTCTCTCTCTC |
5: 103,958,906 (GRCm39) |
|
probably benign |
Het |
Ankle2 |
C |
T |
5: 110,399,511 (GRCm39) |
R624* |
probably null |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,446,640 (GRCm39) |
|
probably benign |
Het |
Ccdc116 |
T |
A |
16: 16,959,476 (GRCm39) |
R404S |
possibly damaging |
Het |
Ccdc171 |
A |
G |
4: 83,614,678 (GRCm39) |
|
probably benign |
Het |
Ccdc80 |
A |
G |
16: 44,916,846 (GRCm39) |
K534R |
probably damaging |
Het |
Ccna1 |
T |
C |
3: 54,958,348 (GRCm39) |
I112V |
probably benign |
Het |
Cdhr1 |
A |
C |
14: 36,801,558 (GRCm39) |
L795R |
possibly damaging |
Het |
Cilp |
C |
A |
9: 65,176,872 (GRCm39) |
L43I |
possibly damaging |
Het |
Dclk2 |
T |
C |
3: 86,720,976 (GRCm39) |
|
probably benign |
Het |
Ddx59 |
C |
A |
1: 136,360,047 (GRCm39) |
|
probably benign |
Het |
Dgkd |
T |
C |
1: 87,865,996 (GRCm39) |
|
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,658,384 (GRCm39) |
|
probably null |
Het |
Dst |
T |
G |
1: 34,342,559 (GRCm39) |
S5030A |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,106,443 (GRCm39) |
|
probably benign |
Het |
Farp1 |
C |
A |
14: 121,481,012 (GRCm39) |
P471Q |
possibly damaging |
Het |
Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
Fcer1g |
A |
G |
1: 171,058,795 (GRCm39) |
V31A |
possibly damaging |
Het |
Glb1l2 |
A |
G |
9: 26,717,618 (GRCm39) |
V21A |
probably benign |
Het |
Gm9912 |
T |
C |
3: 148,891,131 (GRCm39) |
I1V |
unknown |
Het |
Guf1 |
G |
A |
5: 69,716,929 (GRCm39) |
A164T |
probably damaging |
Het |
Hbb-bs |
T |
C |
7: 103,475,876 (GRCm39) |
H147R |
possibly damaging |
Het |
Hnrnpr |
T |
A |
4: 136,066,474 (GRCm39) |
|
probably benign |
Het |
Iglon5 |
A |
T |
7: 43,126,261 (GRCm39) |
V214E |
probably damaging |
Het |
Isx |
C |
A |
8: 75,616,589 (GRCm39) |
|
probably null |
Het |
Kank4 |
T |
C |
4: 98,666,702 (GRCm39) |
N582D |
probably benign |
Het |
Kdm4c |
T |
C |
4: 74,291,857 (GRCm39) |
C825R |
probably damaging |
Het |
Krt25 |
G |
A |
11: 99,208,885 (GRCm39) |
T315M |
probably benign |
Het |
Lrp5 |
A |
T |
19: 3,647,349 (GRCm39) |
S1298T |
probably damaging |
Het |
Map3k10 |
T |
C |
7: 27,356,156 (GRCm39) |
D921G |
probably damaging |
Het |
Mrgprx1 |
C |
A |
7: 47,671,294 (GRCm39) |
W151L |
probably damaging |
Het |
Mylk3 |
T |
A |
8: 86,081,873 (GRCm39) |
D375V |
probably damaging |
Het |
Nav3 |
C |
T |
10: 109,702,791 (GRCm39) |
|
probably null |
Het |
Ncan |
A |
G |
8: 70,567,984 (GRCm39) |
S43P |
probably benign |
Het |
Necab3 |
G |
T |
2: 154,388,013 (GRCm39) |
Q292K |
probably benign |
Het |
Nptx2 |
T |
C |
5: 144,484,950 (GRCm39) |
S148P |
probably damaging |
Het |
Or2at4 |
A |
T |
7: 99,385,135 (GRCm39) |
I262L |
probably benign |
Het |
Or6p1 |
G |
A |
1: 174,258,032 (GRCm39) |
V13I |
probably benign |
Het |
Pde6a |
A |
G |
18: 61,419,006 (GRCm39) |
E794G |
possibly damaging |
Het |
Pus7 |
T |
C |
5: 23,980,964 (GRCm39) |
Y133C |
possibly damaging |
Het |
Rad21l |
A |
G |
2: 151,496,508 (GRCm39) |
|
probably benign |
Het |
Rptor |
A |
T |
11: 119,712,603 (GRCm39) |
|
probably benign |
Het |
Sart1 |
C |
A |
19: 5,438,424 (GRCm39) |
A78S |
probably benign |
Het |
Shkbp1 |
T |
C |
7: 27,051,486 (GRCm39) |
E191G |
probably benign |
Het |
Slc6a18 |
A |
T |
13: 73,822,751 (GRCm39) |
|
probably null |
Het |
Stxbp5 |
T |
C |
10: 9,646,272 (GRCm39) |
T147A |
probably benign |
Het |
Sv2b |
A |
G |
7: 74,807,015 (GRCm39) |
|
probably null |
Het |
Syne2 |
A |
T |
12: 76,088,778 (GRCm39) |
K5045N |
probably damaging |
Het |
Tmem174 |
A |
C |
13: 98,773,347 (GRCm39) |
M161R |
possibly damaging |
Het |
Tmprss7 |
A |
G |
16: 45,476,820 (GRCm39) |
V814A |
probably damaging |
Het |
Togaram2 |
T |
C |
17: 72,021,225 (GRCm39) |
|
probably benign |
Het |
Tpr |
T |
C |
1: 150,319,009 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,730,572 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,157,568 (GRCm39) |
L2375Q |
possibly damaging |
Het |
Utp20 |
T |
C |
10: 88,600,537 (GRCm39) |
E1987G |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,560,195 (GRCm39) |
T1365A |
probably damaging |
Het |
Vmn2r116 |
T |
A |
17: 23,605,072 (GRCm39) |
Y128* |
probably null |
Het |
Vmn2r5 |
A |
G |
3: 64,411,734 (GRCm39) |
V278A |
probably damaging |
Het |
Vps13d |
C |
T |
4: 144,832,479 (GRCm39) |
S2809N |
probably benign |
Het |
Zfp212 |
G |
A |
6: 47,903,619 (GRCm39) |
R68H |
probably damaging |
Het |
Zfp442 |
A |
T |
2: 150,253,160 (GRCm39) |
L33Q |
probably damaging |
Het |
Zfp629 |
T |
C |
7: 127,211,255 (GRCm39) |
S185G |
probably damaging |
Het |
Zfp738 |
A |
G |
13: 67,831,508 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTATTTGCCCAAGTTCACACACCC -3'
(R):5'- AGTCACCGTGATCTCCCCAGTC -3'
Sequencing Primer
(F):5'- ctgctgcctctgcctac -3'
(R):5'- GTGATCTCCCCAGTCACTCC -3'
|
Posted On |
2013-05-09 |