Incidental Mutation 'R9425:Kcp'
| ID |
712563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcp
|
| Ensembl Gene |
ENSMUSG00000059022 |
| Gene Name |
kielin/chordin-like protein |
| Synonyms |
Crim2, LOC333088, KCP |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R9425 (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 A
at 29489151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 1045
(Q1045L)
|
| 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: Q1045L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077251
Gene: ENSMUSG00000059022
AA Change: Q1045L
| 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
|
| SMART Domains |
Protein: ENSMUSP00000088954
Gene: ENSMUSG00000059022
| 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: Q1045L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099135
Gene: ENSMUSG00000059022
AA Change: Q1045L
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
C |
3: 121,926,344 (GRCm39) |
S1260T |
probably damaging |
Het |
| Adgra2 |
A |
G |
8: 27,576,094 (GRCm39) |
I41V |
probably benign |
Het |
| Adgrf1 |
A |
G |
17: 43,621,274 (GRCm39) |
I504V |
possibly damaging |
Het |
| Agtrap |
A |
G |
4: 148,165,019 (GRCm39) |
I136T |
probably damaging |
Het |
| Arhgef7 |
C |
T |
8: 11,867,736 (GRCm39) |
T601I |
probably damaging |
Het |
| Asb7 |
T |
C |
7: 66,328,987 (GRCm39) |
I18V |
possibly damaging |
Het |
| C1rl |
T |
C |
6: 124,485,322 (GRCm39) |
V231A |
probably benign |
Het |
| Cachd1 |
A |
T |
4: 100,832,057 (GRCm39) |
T740S |
probably benign |
Het |
| Ccdc146 |
T |
A |
5: 21,508,135 (GRCm39) |
I638F |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,601,163 (GRCm39) |
N407S |
probably benign |
Het |
| Clec7a |
G |
A |
6: 129,442,514 (GRCm39) |
S126L |
probably damaging |
Het |
| Copb1 |
C |
T |
7: 113,848,182 (GRCm39) |
G118R |
probably damaging |
Het |
| Cpne3 |
A |
T |
4: 19,525,148 (GRCm39) |
M449K |
probably damaging |
Het |
| Cttnbp2 |
A |
T |
6: 18,423,880 (GRCm39) |
C815S |
probably damaging |
Het |
| Cyp27b1 |
T |
C |
10: 126,886,006 (GRCm39) |
L253P |
probably damaging |
Het |
| Cyp3a44 |
C |
A |
5: 145,740,548 (GRCm39) |
G31* |
probably null |
Het |
| Dcp2 |
C |
T |
18: 44,538,361 (GRCm39) |
R173C |
probably damaging |
Het |
| Dmgdh |
A |
T |
13: 93,880,813 (GRCm39) |
I748L |
probably benign |
Het |
| Drc1 |
T |
A |
5: 30,502,938 (GRCm39) |
W154R |
probably benign |
Het |
| E330034G19Rik |
T |
A |
14: 24,358,387 (GRCm39) |
|
probably null |
Het |
| Gbp7 |
T |
A |
3: 142,248,718 (GRCm39) |
V327E |
probably damaging |
Het |
| Gm11564 |
G |
A |
11: 99,706,065 (GRCm39) |
P122S |
unknown |
Het |
| Grid2ip |
C |
A |
5: 143,367,435 (GRCm39) |
S615R |
|
Het |
| Lgals3bp |
T |
A |
11: 118,284,751 (GRCm39) |
E276V |
probably damaging |
Het |
| Lrit1 |
T |
C |
14: 36,784,208 (GRCm39) |
V512A |
possibly damaging |
Het |
| Mecom |
T |
A |
3: 30,039,597 (GRCm39) |
H154L |
probably benign |
Het |
| Mmp14 |
C |
A |
14: 54,677,804 (GRCm39) |
T475K |
probably damaging |
Het |
| Mmp1a |
T |
G |
9: 7,476,210 (GRCm39) |
F436V |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,795,801 (GRCm39) |
S830G |
probably benign |
Het |
| Oas1b |
T |
C |
5: 120,955,693 (GRCm39) |
L158P |
probably benign |
Het |
| Odf4 |
A |
G |
11: 68,813,810 (GRCm39) |
V126A |
probably benign |
Het |
| Olfml2a |
A |
G |
2: 38,847,721 (GRCm39) |
T427A |
probably damaging |
Het |
| Or2b28 |
A |
G |
13: 21,531,473 (GRCm39) |
Y125C |
probably damaging |
Het |
| Or4c102 |
C |
A |
2: 88,422,877 (GRCm39) |
T243K |
probably damaging |
Het |
| Or5b121 |
C |
T |
19: 13,507,222 (GRCm39) |
L106F |
probably damaging |
Het |
| Or6d12 |
G |
A |
6: 116,493,574 (GRCm39) |
E279K |
possibly damaging |
Het |
| Or8b42 |
A |
G |
9: 38,342,286 (GRCm39) |
K236R |
possibly damaging |
Het |
| Panx3 |
G |
A |
9: 37,572,393 (GRCm39) |
H386Y |
probably benign |
Het |
| Papss1 |
C |
A |
3: 131,270,708 (GRCm39) |
C8* |
probably null |
Het |
| Papss2 |
G |
T |
19: 32,615,750 (GRCm39) |
V161L |
possibly damaging |
Het |
| Pcdh18 |
G |
T |
3: 49,709,051 (GRCm39) |
H755N |
possibly damaging |
Het |
| Pilrb2 |
G |
C |
5: 137,866,964 (GRCm39) |
H180D |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,133,264 (GRCm39) |
D645G |
possibly damaging |
Het |
| Pnlip |
A |
T |
19: 58,669,290 (GRCm39) |
K430* |
probably null |
Het |
| Ralbp1 |
C |
A |
17: 66,171,506 (GRCm39) |
A156S |
possibly damaging |
Het |
| Rnf4 |
C |
T |
5: 34,508,641 (GRCm39) |
R168C |
probably benign |
Het |
| Slc17a5 |
C |
T |
9: 78,484,457 (GRCm39) |
G127E |
probably damaging |
Het |
| Slc22a27 |
A |
T |
19: 7,874,156 (GRCm39) |
N306K |
probably damaging |
Het |
| Slc5a9 |
G |
A |
4: 111,734,803 (GRCm39) |
R664C |
probably damaging |
Het |
| Slco1b2 |
T |
A |
6: 141,603,249 (GRCm39) |
I210K |
possibly damaging |
Het |
| Snx16 |
C |
T |
3: 10,499,520 (GRCm39) |
R170H |
probably damaging |
Het |
| Speer4e1 |
T |
C |
5: 14,987,136 (GRCm39) |
I90V |
possibly damaging |
Het |
| Stxbp5l |
T |
C |
16: 36,994,706 (GRCm39) |
D733G |
possibly damaging |
Het |
| Tbc1d24 |
A |
G |
17: 24,404,382 (GRCm39) |
V254A |
probably benign |
Het |
| Tmf1 |
A |
G |
6: 97,149,293 (GRCm39) |
F485L |
probably benign |
Het |
| Tnks |
G |
A |
8: 35,340,819 (GRCm39) |
L396F |
probably damaging |
Het |
| Trabd |
T |
C |
15: 88,969,496 (GRCm39) |
C230R |
probably damaging |
Het |
| Trp53rkb |
C |
T |
2: 166,637,542 (GRCm39) |
A166V |
probably benign |
Het |
| Upf1 |
A |
T |
8: 70,792,003 (GRCm39) |
D418E |
probably benign |
Het |
| Ust |
A |
C |
10: 8,205,873 (GRCm39) |
S137A |
probably damaging |
Het |
| Zfp513 |
T |
A |
5: 31,357,695 (GRCm39) |
H228L |
possibly damaging |
Het |
| Zfp827 |
C |
A |
8: 79,905,588 (GRCm39) |
A855E |
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 |
|
|
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 |
|
|
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'- AACTGCCTGCTTGAGTCAGG -3'
(R):5'- GGTCACATGACAGTTGAACTTG -3'
Sequencing Primer
(F):5'- AGCTAGGGAACTCTACTGGCATTTC -3'
(R):5'- CACATGACAGTTGAACTTGAAAAAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation