Incidental Mutation 'R4377:Kcp'
| ID |
325143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcp
|
| Ensembl Gene |
ENSMUSG00000059022 |
| Gene Name |
kielin/chordin-like protein |
| Synonyms |
Crim2, LOC333088, KCP |
| MMRRC Submission |
041676-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R4377 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29473161-29507951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 29493202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 107
(C107Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078112]
[ENSMUST00000091391]
[ENSMUST00000101614]
[ENSMUST00000159479]
|
| AlphaFold |
Q3U492 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078112
AA Change: C836Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077251
Gene: ENSMUSG00000059022
AA Change: C836Y
| 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: C836Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088954
Gene: ENSMUSG00000059022
AA Change: C836Y
| 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: C836Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099135
Gene: ENSMUSG00000059022
AA Change: C836Y
| 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: C107Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124771
Gene: ENSMUSG00000059022
AA Change: C107Y
| 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 |
0.1461 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (57/58) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck5 |
A |
G |
15: 76,478,535 (GRCm39) |
|
probably benign |
Het |
| Arhgap22 |
A |
G |
14: 33,091,467 (GRCm39) |
M681V |
probably damaging |
Het |
| Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
| Atp10d |
T |
C |
5: 72,454,318 (GRCm39) |
L189P |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,108,196 (GRCm39) |
C384R |
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,941,877 (GRCm39) |
L1380Q |
probably damaging |
Het |
| Cd209c |
T |
C |
8: 4,004,635 (GRCm39) |
|
noncoding transcript |
Het |
| Cenpp |
A |
G |
13: 49,647,907 (GRCm39) |
|
probably benign |
Het |
| Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
| Csn1s2a |
T |
C |
5: 87,923,680 (GRCm39) |
V12A |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,867,498 (GRCm39) |
D235G |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Frmd3 |
T |
A |
4: 74,046,535 (GRCm39) |
|
probably null |
Het |
| Gart |
G |
A |
16: 91,430,982 (GRCm39) |
A360V |
probably benign |
Het |
| Gm7251 |
T |
A |
13: 49,958,676 (GRCm39) |
|
noncoding transcript |
Het |
| Gon4l |
C |
A |
3: 88,814,694 (GRCm39) |
P1888T |
probably benign |
Het |
| Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,927,453 (GRCm39) |
Y981C |
probably benign |
Het |
| Kdm2a |
C |
T |
19: 4,379,082 (GRCm39) |
V138M |
probably benign |
Het |
| Kit |
T |
C |
5: 75,801,159 (GRCm39) |
I515T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,520,324 (GRCm39) |
V1929I |
probably benign |
Het |
| Krt33a |
T |
C |
11: 99,903,253 (GRCm39) |
E263G |
possibly damaging |
Het |
| Mark2 |
T |
C |
19: 7,268,054 (GRCm39) |
I50V |
possibly damaging |
Het |
| Mug2 |
G |
T |
6: 122,047,966 (GRCm39) |
|
probably null |
Het |
| Mvk |
A |
G |
5: 114,591,022 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
| Naa15 |
T |
C |
3: 51,355,786 (GRCm39) |
I229T |
possibly damaging |
Het |
| Napb |
A |
C |
2: 148,574,184 (GRCm39) |
|
probably null |
Het |
| Ncoa3 |
T |
G |
2: 165,896,417 (GRCm39) |
L440R |
possibly damaging |
Het |
| Or52ae7 |
T |
C |
7: 103,119,278 (GRCm39) |
S11P |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,631,103 (GRCm39) |
F193L |
probably benign |
Het |
| Osbpl8 |
T |
A |
10: 111,105,280 (GRCm39) |
I245N |
possibly damaging |
Het |
| Pdia4 |
G |
A |
6: 47,775,326 (GRCm39) |
R495W |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
| Plekha5 |
T |
C |
6: 140,525,191 (GRCm39) |
Y376H |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,485,071 (GRCm39) |
I395K |
possibly damaging |
Het |
| Prcc |
A |
G |
3: 87,774,714 (GRCm39) |
Y363H |
probably damaging |
Het |
| Ptprc |
A |
T |
1: 137,995,663 (GRCm39) |
M982K |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,357,264 (GRCm39) |
F252I |
probably benign |
Het |
| Pusl1 |
A |
G |
4: 155,975,037 (GRCm39) |
V188A |
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,570,421 (GRCm39) |
S1300P |
probably benign |
Het |
| Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
| Rtel1 |
T |
A |
2: 180,997,589 (GRCm39) |
H1104Q |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,903,137 (GRCm39) |
R177G |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 113,093,715 (GRCm39) |
T143A |
possibly damaging |
Het |
| Steep1 |
C |
A |
X: 36,087,812 (GRCm39) |
C206F |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Zfp583 |
A |
G |
7: 6,320,680 (GRCm39) |
S111P |
possibly damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
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 |
|
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'- AGCCACTGGACGGTTTTCAG -3'
(R):5'- TTGGCTCCTCCACTGATAGG -3'
Sequencing Primer
(F):5'- CAGAGCAGGCATATGAGAATTCTG -3'
(R):5'- TCCACTGATAGGCTGTGATTATC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation