Incidental Mutation 'R1808:Kcp'
ID |
203592 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcp
|
Ensembl Gene |
ENSMUSG00000059022 |
Gene Name |
kielin/chordin-like protein |
Synonyms |
Crim2, LOC333088, KCP |
MMRRC Submission |
039837-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R1808 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
29473161-29507951 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29505654 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 73
(T73A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124097
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078112]
[ENSMUST00000091391]
[ENSMUST00000101614]
[ENSMUST00000161237]
|
AlphaFold |
Q3U492 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078112
AA Change: T73A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000077251 Gene: ENSMUSG00000059022 AA Change: T73A
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: T73A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000088954 Gene: ENSMUSG00000059022 AA Change: T73A
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: T73A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000099135 Gene: ENSMUSG00000059022 AA Change: T73A
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: 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
AA Change: T73A
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000124097 Gene: ENSMUSG00000059022 AA Change: T73A
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: ENSMUST00000181540
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.1%
- 20x: 91.9%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
G |
T |
5: 146,121,691 (GRCm39) |
Y69* |
probably null |
Het |
2310011J03Rik |
A |
G |
10: 80,156,015 (GRCm39) |
|
probably null |
Het |
A2ml1 |
A |
C |
6: 128,520,262 (GRCm39) |
D1367E |
probably damaging |
Het |
Adam6a |
C |
G |
12: 113,508,334 (GRCm39) |
L236V |
probably benign |
Het |
Arf3 |
T |
C |
15: 98,638,954 (GRCm39) |
N101S |
probably benign |
Het |
Arhgap42 |
T |
C |
9: 9,180,051 (GRCm39) |
E76G |
probably damaging |
Het |
Atp2a1 |
A |
G |
7: 126,052,573 (GRCm39) |
F382S |
probably damaging |
Het |
Bud13 |
T |
A |
9: 46,199,705 (GRCm39) |
F355L |
probably benign |
Het |
C2 |
G |
A |
17: 35,083,508 (GRCm39) |
P349S |
probably damaging |
Het |
Cbl |
C |
A |
9: 44,075,526 (GRCm39) |
G373V |
probably damaging |
Het |
Ccdc3 |
T |
A |
2: 5,142,896 (GRCm39) |
L51Q |
probably damaging |
Het |
Ccdc34 |
T |
A |
2: 109,874,601 (GRCm39) |
M320K |
probably benign |
Het |
Cntln |
A |
G |
4: 85,015,000 (GRCm39) |
E1097G |
probably damaging |
Het |
Ctsc |
A |
C |
7: 87,948,750 (GRCm39) |
K195Q |
possibly damaging |
Het |
Ctsf |
C |
T |
19: 4,906,562 (GRCm39) |
P163L |
probably benign |
Het |
Dcxr |
A |
T |
11: 120,616,438 (GRCm39) |
|
probably null |
Het |
Dgki |
T |
C |
6: 37,126,509 (GRCm39) |
E157G |
possibly damaging |
Het |
Dnah8 |
T |
C |
17: 30,903,160 (GRCm39) |
L933P |
probably damaging |
Het |
Dtna |
T |
C |
18: 23,702,697 (GRCm39) |
L76P |
probably damaging |
Het |
Fcgbp |
T |
A |
7: 27,784,515 (GRCm39) |
C192S |
probably benign |
Het |
Galnt5 |
T |
A |
2: 57,916,137 (GRCm39) |
D683E |
probably benign |
Het |
Greb1l |
G |
A |
18: 10,542,143 (GRCm39) |
A1297T |
probably benign |
Het |
Grik4 |
T |
C |
9: 42,540,322 (GRCm39) |
N286S |
probably benign |
Het |
Hrc |
A |
T |
7: 44,986,202 (GRCm39) |
E451V |
probably damaging |
Het |
Hrh3 |
G |
A |
2: 179,741,577 (GRCm39) |
|
probably benign |
Het |
Ints13 |
A |
G |
6: 146,455,695 (GRCm39) |
I152T |
probably damaging |
Het |
Irgm1 |
A |
T |
11: 48,757,259 (GRCm39) |
V184D |
probably damaging |
Het |
Itga5 |
C |
T |
15: 103,258,826 (GRCm39) |
A791T |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,053,008 (GRCm39) |
T433A |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Kmt2d |
T |
C |
15: 98,764,567 (GRCm39) |
D12G |
probably damaging |
Het |
Mms19 |
A |
G |
19: 41,954,698 (GRCm39) |
S74P |
probably damaging |
Het |
Myh1 |
G |
T |
11: 67,102,300 (GRCm39) |
E864* |
probably null |
Het |
Nek1 |
A |
G |
8: 61,469,264 (GRCm39) |
D107G |
probably damaging |
Het |
Npc1 |
T |
C |
18: 12,327,149 (GRCm39) |
N1149D |
probably damaging |
Het |
Or14j6 |
T |
A |
17: 38,214,661 (GRCm39) |
S75T |
probably damaging |
Het |
Or3a1b |
C |
A |
11: 74,012,257 (GRCm39) |
S47R |
probably damaging |
Het |
Or4k36 |
T |
C |
2: 111,146,343 (GRCm39) |
V173A |
probably benign |
Het |
Or5p79 |
A |
C |
7: 108,221,817 (GRCm39) |
K266T |
possibly damaging |
Het |
Osbp |
T |
C |
19: 11,948,142 (GRCm39) |
S150P |
probably damaging |
Het |
Paf1 |
T |
C |
7: 28,096,247 (GRCm39) |
Y287H |
probably damaging |
Het |
Pdgfrb |
T |
C |
18: 61,201,174 (GRCm39) |
V420A |
probably benign |
Het |
Pdss1 |
G |
T |
2: 22,796,846 (GRCm39) |
E120* |
probably null |
Het |
Pink1 |
A |
T |
4: 138,044,630 (GRCm39) |
V339E |
probably damaging |
Het |
Pkn3 |
C |
T |
2: 29,969,663 (GRCm39) |
R58C |
probably damaging |
Het |
Pm20d1 |
G |
A |
1: 131,730,165 (GRCm39) |
V235I |
probably benign |
Het |
Ppp2r2a |
A |
G |
14: 67,276,412 (GRCm39) |
I31T |
probably damaging |
Het |
Rbms3 |
T |
C |
9: 116,651,894 (GRCm39) |
E152G |
probably damaging |
Het |
Rfx1 |
A |
C |
8: 84,821,677 (GRCm39) |
Q804H |
probably damaging |
Het |
Rpe |
G |
T |
1: 66,754,356 (GRCm39) |
V143L |
probably benign |
Het |
Sap30l |
G |
T |
11: 57,700,771 (GRCm39) |
V142L |
probably benign |
Het |
Sh3tc1 |
T |
C |
5: 35,863,268 (GRCm39) |
Q973R |
probably benign |
Het |
Slc10a2 |
T |
C |
8: 5,154,856 (GRCm39) |
T110A |
probably damaging |
Het |
Snrnp200 |
A |
T |
2: 127,060,947 (GRCm39) |
|
probably null |
Het |
Snrnp200 |
G |
A |
2: 127,060,948 (GRCm39) |
|
probably null |
Het |
Spaca3 |
T |
A |
11: 80,758,511 (GRCm39) |
V158E |
probably damaging |
Het |
Sprtn |
C |
A |
8: 125,629,770 (GRCm39) |
N354K |
probably benign |
Het |
Stab1 |
T |
A |
14: 30,863,101 (GRCm39) |
Y2166F |
possibly damaging |
Het |
Tmem106c |
G |
A |
15: 97,866,548 (GRCm39) |
|
probably null |
Het |
Tnc |
A |
G |
4: 63,918,168 (GRCm39) |
S1248P |
probably damaging |
Het |
Tshr |
T |
C |
12: 91,504,090 (GRCm39) |
F343L |
probably benign |
Het |
Ttn |
C |
A |
2: 76,555,698 (GRCm39) |
A30436S |
probably damaging |
Het |
Ubxn2a |
A |
T |
12: 4,935,839 (GRCm39) |
M68K |
probably benign |
Het |
Ucp2 |
T |
C |
7: 100,148,021 (GRCm39) |
V238A |
probably damaging |
Het |
Urgcp |
C |
A |
11: 5,667,242 (GRCm39) |
L365F |
probably damaging |
Het |
Vezt |
A |
T |
10: 93,826,026 (GRCm39) |
D328E |
probably damaging |
Het |
Vmn1r168 |
G |
T |
7: 23,240,184 (GRCm39) |
V14L |
probably benign |
Het |
Vps13b |
T |
C |
15: 35,792,205 (GRCm39) |
F2158L |
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 |
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 |
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'- AGACTAAGAACCTCTCTGTGTTTTC -3'
(R):5'- TCTGTCTACAGGCCAAGCTG -3'
Sequencing Primer
(F):5'- GCGGCTAGTAACAGTCTGTAACTC -3'
(R):5'- TCTACAGGCCAAGCTGGGTTC -3'
|
Posted On |
2014-06-23 |