Incidental Mutation 'R7334:Kcp'
ID |
569358 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcp
|
Ensembl Gene |
ENSMUSG00000059022 |
Gene Name |
kielin/chordin-like protein |
Synonyms |
Crim2, LOC333088, KCP |
MMRRC Submission |
045371-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R7334 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
29473161-29507951 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29485511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1161
(E1161G)
|
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: E1161G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077251 Gene: ENSMUSG00000059022 AA Change: E1161G
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: E1160G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000088954 Gene: ENSMUSG00000059022 AA Change: E1160G
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: E1161G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099135 Gene: ENSMUSG00000059022 AA Change: E1161G
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: ENSMUST00000161276
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (75/76) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
T |
A |
3: 59,776,380 (GRCm39) |
C184S |
probably damaging |
Het |
Acadm |
G |
T |
3: 153,644,698 (GRCm39) |
S9* |
probably null |
Het |
Acot10 |
C |
T |
15: 20,665,629 (GRCm39) |
V371I |
possibly damaging |
Het |
Adam8 |
T |
C |
7: 139,568,903 (GRCm39) |
E199G |
probably damaging |
Het |
Aldh18a1 |
A |
T |
19: 40,539,696 (GRCm39) |
W762R |
probably damaging |
Het |
Aldh1a1 |
T |
A |
19: 20,599,075 (GRCm39) |
V162E |
probably damaging |
Het |
Alms1 |
A |
G |
6: 85,618,432 (GRCm39) |
D2357G |
probably damaging |
Het |
Arfgef1 |
G |
T |
1: 10,254,685 (GRCm39) |
Q718K |
probably damaging |
Het |
Arid5b |
A |
C |
10: 68,079,007 (GRCm39) |
V110G |
possibly damaging |
Het |
Bpifb3 |
T |
A |
2: 153,761,654 (GRCm39) |
D34E |
probably damaging |
Het |
Cacfd1 |
C |
T |
2: 26,905,558 (GRCm39) |
A85V |
possibly damaging |
Het |
Cep57l1 |
C |
A |
10: 41,597,596 (GRCm39) |
S345I |
probably benign |
Het |
Cibar2 |
T |
C |
8: 120,901,589 (GRCm39) |
T39A |
probably damaging |
Het |
Clca3b |
G |
A |
3: 144,542,417 (GRCm39) |
R462* |
probably null |
Het |
Cyp26c1 |
G |
A |
19: 37,677,323 (GRCm39) |
V251I |
probably benign |
Het |
Dip2a |
A |
G |
10: 76,110,080 (GRCm39) |
S1179P |
possibly damaging |
Het |
Dnal1 |
T |
C |
12: 84,173,780 (GRCm39) |
L27P |
probably damaging |
Het |
Dock7 |
A |
G |
4: 98,864,180 (GRCm39) |
V1288A |
unknown |
Het |
Elmod1 |
A |
T |
9: 53,841,508 (GRCm39) |
|
probably null |
Het |
Epb41l5 |
T |
G |
1: 119,551,679 (GRCm39) |
K102T |
probably damaging |
Het |
Fermt3 |
T |
C |
19: 6,980,406 (GRCm39) |
I358V |
probably benign |
Het |
Frmd3 |
A |
G |
4: 74,079,955 (GRCm39) |
I316V |
probably benign |
Het |
Fryl |
T |
C |
5: 73,204,839 (GRCm39) |
|
probably null |
Het |
Gm4131 |
T |
A |
14: 62,702,356 (GRCm39) |
H204L |
possibly damaging |
Het |
Hmcn2 |
G |
A |
2: 31,325,806 (GRCm39) |
G4278R |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,343,147 (GRCm39) |
S4558G |
possibly damaging |
Het |
Igkv1-132 |
A |
G |
6: 67,737,108 (GRCm39) |
T25A |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,293,235 (GRCm39) |
I5371K |
probably damaging |
Het |
Malrd1 |
T |
A |
2: 16,011,529 (GRCm39) |
C1670S |
probably damaging |
Het |
Mfsd13a |
T |
A |
19: 46,356,809 (GRCm39) |
V270E |
probably damaging |
Het |
Mroh1 |
A |
G |
15: 76,311,838 (GRCm39) |
I524V |
probably benign |
Het |
Mta1 |
T |
C |
12: 113,090,418 (GRCm39) |
S175P |
possibly damaging |
Het |
Myo7a |
C |
T |
7: 97,728,573 (GRCm39) |
R800H |
probably benign |
Het |
Ncald |
T |
A |
15: 37,397,524 (GRCm39) |
Y52F |
probably damaging |
Het |
Nherf1 |
C |
T |
11: 115,054,593 (GRCm39) |
A81V |
possibly damaging |
Het |
Nomo1 |
T |
C |
7: 45,732,692 (GRCm39) |
S1152P |
probably damaging |
Het |
Nr3c1 |
A |
G |
18: 39,620,090 (GRCm39) |
F66L |
probably benign |
Het |
Nrf1 |
T |
C |
6: 30,118,970 (GRCm39) |
L363S |
probably benign |
Het |
Or4n4 |
C |
A |
14: 50,519,036 (GRCm39) |
V225F |
probably benign |
Het |
Or8b12b |
A |
T |
9: 37,684,293 (GRCm39) |
I113F |
probably damaging |
Het |
Osbpl3 |
A |
G |
6: 50,321,886 (GRCm39) |
M300T |
possibly damaging |
Het |
Parpbp |
T |
A |
10: 87,947,617 (GRCm39) |
N339I |
probably damaging |
Het |
Pdlim5 |
A |
T |
3: 141,950,678 (GRCm39) |
H578Q |
probably damaging |
Het |
Pear1 |
T |
C |
3: 87,657,532 (GRCm39) |
N1009S |
probably damaging |
Het |
Pnpla8 |
A |
G |
12: 44,358,286 (GRCm39) |
I745M |
probably damaging |
Het |
Pom121l12 |
C |
A |
11: 14,549,681 (GRCm39) |
T129K |
probably damaging |
Het |
Ppp1r14a |
T |
C |
7: 28,992,687 (GRCm39) |
S130P |
probably damaging |
Het |
Prss12 |
A |
C |
3: 123,280,780 (GRCm39) |
L488F |
probably benign |
Het |
Psd3 |
C |
T |
8: 68,361,357 (GRCm39) |
V559I |
possibly damaging |
Het |
Rrh |
T |
C |
3: 129,602,631 (GRCm39) |
T364A |
probably benign |
Het |
Shcbp1 |
A |
T |
8: 4,791,876 (GRCm39) |
M479K |
probably damaging |
Het |
Shcbp1 |
A |
C |
8: 4,804,310 (GRCm39) |
F200C |
probably damaging |
Het |
Slx1b |
G |
T |
7: 126,291,699 (GRCm39) |
R122S |
probably damaging |
Het |
Spata31f1e |
G |
A |
4: 42,793,856 (GRCm39) |
T92I |
possibly damaging |
Het |
Spidr |
A |
G |
16: 15,932,689 (GRCm39) |
|
probably null |
Het |
St18 |
G |
A |
1: 6,872,783 (GRCm39) |
D173N |
probably benign |
Het |
Stambpl1 |
T |
C |
19: 34,204,048 (GRCm39) |
I46T |
probably damaging |
Het |
Syne1 |
C |
T |
10: 5,007,886 (GRCm39) |
D113N |
probably damaging |
Het |
Tg |
G |
A |
15: 66,597,121 (GRCm39) |
V1741I |
probably benign |
Het |
Thsd7b |
T |
A |
1: 130,123,012 (GRCm39) |
W1544R |
probably benign |
Het |
Tiam2 |
G |
A |
17: 3,553,283 (GRCm39) |
R1120H |
possibly damaging |
Het |
Tinag |
A |
T |
9: 76,908,931 (GRCm39) |
C337S |
probably damaging |
Het |
Tm4sf1 |
G |
C |
3: 57,200,510 (GRCm39) |
A64G |
probably damaging |
Het |
Tmprss6 |
A |
G |
15: 78,328,017 (GRCm39) |
Y572H |
unknown |
Het |
Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
Txndc11 |
A |
G |
16: 10,946,425 (GRCm39) |
Y129H |
probably damaging |
Het |
Ube3b |
T |
C |
5: 114,553,742 (GRCm39) |
F974S |
possibly damaging |
Het |
Utrn |
C |
A |
10: 12,603,753 (GRCm39) |
|
probably null |
Het |
Vmn1r58 |
T |
A |
7: 5,414,066 (GRCm39) |
M55L |
probably benign |
Het |
Vnn1 |
T |
A |
10: 23,776,658 (GRCm39) |
S336R |
probably benign |
Het |
Wwc2 |
T |
C |
8: 48,322,829 (GRCm39) |
Y424C |
unknown |
Het |
Zfp507 |
T |
C |
7: 35,475,505 (GRCm39) |
I903V |
probably damaging |
Het |
Zfp551 |
C |
T |
7: 12,150,681 (GRCm39) |
G243R |
probably damaging |
Het |
Zfp60 |
T |
A |
7: 27,448,444 (GRCm39) |
C371S |
probably 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 |
|
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'- CGCTAGTAGTTCATGGATGGC -3'
(R):5'- GCAGGTGCAGGTTATTCAAGTG -3'
Sequencing Primer
(F):5'- TGGCAACAGAAACCCAAAGC -3'
(R):5'- ATTCAAGTGTTGCTGGGGTCC -3'
|
Posted On |
2019-09-13 |