Incidental Mutation 'R7138:Kcp'
ID |
553189 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcp
|
Ensembl Gene |
ENSMUSG00000059022 |
Gene Name |
kielin/chordin-like protein |
Synonyms |
Crim2, LOC333088, KCP |
MMRRC Submission |
045249-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R7138 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
29473161-29507951 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 29491861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 922
(E922*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078112]
[ENSMUST00000091391]
[ENSMUST00000101614]
[ENSMUST00000159479]
|
AlphaFold |
Q3U492 |
Predicted Effect |
probably null
Transcript: ENSMUST00000078112
AA Change: E922*
|
SMART Domains |
Protein: ENSMUSP00000077251 Gene: ENSMUSG00000059022 AA Change: E922*
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 null
Transcript: ENSMUST00000091391
AA Change: E922*
|
SMART Domains |
Protein: ENSMUSP00000088954 Gene: ENSMUSG00000059022 AA Change: E922*
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 null
Transcript: ENSMUST00000101614
AA Change: E922*
|
SMART Domains |
Protein: ENSMUSP00000099135 Gene: ENSMUSG00000059022 AA Change: E922*
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 null
Transcript: ENSMUST00000159479
AA Change: E193*
|
SMART Domains |
Protein: ENSMUSP00000124771 Gene: ENSMUSG00000059022 AA Change: E193*
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,899,113 (GRCm39) |
C698* |
probably null |
Het |
Acacb |
G |
A |
5: 114,345,387 (GRCm39) |
V947M |
probably benign |
Het |
Acadsb |
T |
G |
7: 131,042,968 (GRCm39) |
L343R |
probably damaging |
Het |
Adgrf2 |
C |
T |
17: 43,021,874 (GRCm39) |
E317K |
probably damaging |
Het |
Agap2 |
A |
G |
10: 126,923,154 (GRCm39) |
T663A |
unknown |
Het |
Akap8 |
A |
T |
17: 32,535,515 (GRCm39) |
F166L |
possibly damaging |
Het |
Ankrd17 |
A |
T |
5: 90,390,836 (GRCm39) |
M2278K |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,705,242 (GRCm39) |
S148P |
probably damaging |
Het |
Brf1 |
T |
C |
12: 112,933,835 (GRCm39) |
E266G |
probably damaging |
Het |
Cabin1 |
T |
C |
10: 75,581,187 (GRCm39) |
K380E |
probably damaging |
Het |
Catsper2 |
T |
C |
2: 121,227,544 (GRCm39) |
D542G |
possibly damaging |
Het |
Cbln4 |
C |
A |
2: 171,884,095 (GRCm39) |
D42Y |
probably damaging |
Het |
Ccn6 |
T |
A |
10: 39,034,473 (GRCm39) |
Q43L |
possibly damaging |
Het |
Cd5 |
C |
T |
19: 10,697,668 (GRCm39) |
R437Q |
probably damaging |
Het |
Ceacam18 |
G |
C |
7: 43,288,706 (GRCm39) |
E152D |
possibly damaging |
Het |
Chd8 |
A |
G |
14: 52,451,955 (GRCm39) |
S1347P |
possibly damaging |
Het |
Chodl |
T |
G |
16: 78,738,335 (GRCm39) |
I101R |
probably damaging |
Het |
Clk4 |
T |
G |
11: 51,168,759 (GRCm39) |
F377L |
probably damaging |
Het |
Cntnap3 |
C |
T |
13: 64,929,539 (GRCm39) |
|
probably null |
Het |
Dab2 |
A |
G |
15: 6,458,780 (GRCm39) |
S231G |
probably benign |
Het |
Disp2 |
T |
A |
2: 118,617,361 (GRCm39) |
H118Q |
probably benign |
Het |
Dnah10 |
T |
C |
5: 124,900,009 (GRCm39) |
F3869S |
probably damaging |
Het |
Edil3 |
C |
T |
13: 89,279,847 (GRCm39) |
T175I |
probably damaging |
Het |
Eif1ad18 |
T |
G |
12: 88,050,648 (GRCm39) |
I61R |
probably damaging |
Het |
Fap |
A |
G |
2: 62,372,522 (GRCm39) |
S319P |
probably benign |
Het |
Frmpd2 |
T |
A |
14: 33,293,761 (GRCm39) |
V1309E |
probably benign |
Het |
Galntl5 |
T |
A |
5: 25,394,842 (GRCm39) |
S70T |
probably benign |
Het |
Gm5622 |
G |
T |
14: 51,893,339 (GRCm39) |
E89* |
probably null |
Het |
Gna15 |
G |
A |
10: 81,343,881 (GRCm39) |
T260M |
probably damaging |
Het |
Gucy2c |
A |
G |
6: 136,705,342 (GRCm39) |
I531T |
probably damaging |
Het |
Heatr5b |
A |
G |
17: 79,135,417 (GRCm39) |
V238A |
probably damaging |
Het |
Htr2a |
A |
G |
14: 74,943,182 (GRCm39) |
Y254C |
probably damaging |
Het |
Inpp5b |
A |
G |
4: 124,679,065 (GRCm39) |
R491G |
probably damaging |
Het |
Kcnt2 |
C |
T |
1: 140,523,778 (GRCm39) |
L1093F |
possibly damaging |
Het |
Lrp2 |
G |
A |
2: 69,296,089 (GRCm39) |
A3340V |
possibly damaging |
Het |
Lrrn1 |
T |
G |
6: 107,545,336 (GRCm39) |
V378G |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Net1 |
G |
A |
13: 3,938,510 (GRCm39) |
R126C |
probably damaging |
Het |
Nipsnap3a |
T |
C |
4: 52,993,978 (GRCm39) |
C20R |
probably benign |
Het |
Nxpe2 |
C |
T |
9: 48,232,006 (GRCm39) |
C317Y |
probably damaging |
Het |
Or10v9 |
T |
A |
19: 11,832,652 (GRCm39) |
I222F |
probably damaging |
Het |
Or52h1 |
T |
C |
7: 103,829,504 (GRCm39) |
Y37C |
probably damaging |
Het |
Or8b8 |
T |
C |
9: 37,809,360 (GRCm39) |
I220T |
probably damaging |
Het |
Or8g54 |
T |
G |
9: 39,707,086 (GRCm39) |
Y138* |
probably null |
Het |
Orm1 |
T |
A |
4: 63,262,949 (GRCm39) |
W39R |
probably damaging |
Het |
Pds5b |
A |
T |
5: 150,724,142 (GRCm39) |
K1240* |
probably null |
Het |
Pdss1 |
T |
A |
2: 22,802,681 (GRCm39) |
H173Q |
probably damaging |
Het |
Pebp1 |
A |
G |
5: 117,423,882 (GRCm39) |
W84R |
probably damaging |
Het |
Pla2g4e |
C |
T |
2: 120,001,759 (GRCm39) |
C630Y |
probably damaging |
Het |
Plaat3 |
T |
A |
19: 7,556,550 (GRCm39) |
V117E |
probably damaging |
Het |
Plekho2 |
G |
T |
9: 65,463,635 (GRCm39) |
Q405K |
probably benign |
Het |
Plppr2 |
T |
A |
9: 21,855,708 (GRCm39) |
V227E |
probably damaging |
Het |
Pphln1-ps1 |
T |
A |
16: 13,495,589 (GRCm39) |
D229E |
probably benign |
Het |
Rapgef4 |
T |
C |
2: 72,028,707 (GRCm39) |
S393P |
probably damaging |
Het |
Rapgefl1 |
A |
G |
11: 98,737,900 (GRCm39) |
|
probably null |
Het |
Ripk3 |
C |
A |
14: 56,025,803 (GRCm39) |
R19L |
probably benign |
Het |
Rnase10 |
G |
T |
14: 51,247,167 (GRCm39) |
V182F |
probably damaging |
Het |
Rsf1 |
T |
A |
7: 97,319,002 (GRCm39) |
S917R |
|
Het |
Sephs2 |
T |
C |
7: 126,872,187 (GRCm39) |
N302S |
possibly damaging |
Het |
Slc13a2 |
C |
T |
11: 78,289,950 (GRCm39) |
V455M |
possibly damaging |
Het |
Slc30a2 |
A |
T |
4: 134,071,429 (GRCm39) |
D54V |
probably benign |
Het |
Slco6c1 |
T |
C |
1: 97,047,706 (GRCm39) |
E199G |
possibly damaging |
Het |
Snx27 |
A |
T |
3: 94,436,247 (GRCm39) |
M256K |
probably benign |
Het |
Spag4 |
T |
A |
2: 155,908,519 (GRCm39) |
S150T |
probably benign |
Het |
Spon1 |
T |
A |
7: 113,635,945 (GRCm39) |
C720S |
probably damaging |
Het |
Tbc1d22a |
T |
C |
15: 86,123,356 (GRCm39) |
S166P |
probably benign |
Het |
Tbc1d9 |
T |
C |
8: 83,937,113 (GRCm39) |
I65T |
probably damaging |
Het |
Tmem176a |
T |
A |
6: 48,820,953 (GRCm39) |
V141D |
probably damaging |
Het |
Tmem268 |
G |
A |
4: 63,480,687 (GRCm39) |
|
probably benign |
Het |
Tonsl |
A |
G |
15: 76,518,976 (GRCm39) |
V519A |
probably benign |
Het |
Ttn |
G |
A |
2: 76,612,376 (GRCm39) |
P17204S |
possibly damaging |
Het |
Wrap53 |
T |
A |
11: 69,454,694 (GRCm39) |
D225V |
probably benign |
Het |
Zfhx4 |
G |
A |
3: 5,477,107 (GRCm39) |
A3241T |
possibly damaging |
Het |
Zfp1002 |
T |
C |
2: 150,097,372 (GRCm39) |
H47R |
probably damaging |
Het |
Znfx1 |
T |
C |
2: 166,898,697 (GRCm39) |
R76G |
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 |
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 |
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'- TTCTGTGACCTGGTGCAAGC -3'
(R):5'- CGCTGCCAAAAGAAGCCATG -3'
Sequencing Primer
(F):5'- CTGGTGCAAGCAGGGCAG -3'
(R):5'- CCCTGTTTGTCGCAGTGAGC -3'
|
Posted On |
2019-05-15 |