Incidental Mutation 'R5761:Ccdc187'
| ID |
445277 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc187
|
| Ensembl Gene |
ENSMUSG00000048038 |
| Gene Name |
coiled-coil domain containing 187 |
| Synonyms |
4932418E24Rik |
| MMRRC Submission |
043363-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R5761 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26161659-26184569 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26166104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 775
(P775L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057224]
[ENSMUST00000217256]
[ENSMUST00000227200]
|
| AlphaFold |
Q8C5V8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057224
AA Change: P775L
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000054283
Gene: ENSMUSG00000048038
AA Change: P775L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
116 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
557 |
N/A |
INTRINSIC |
|
coiled coil region
|
605 |
632 |
N/A |
INTRINSIC |
|
coiled coil region
|
717 |
745 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000217256
AA Change: P775L
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000227200
AA Change: P814L
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
99% (67/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,100,927 (GRCm39) |
V953D |
probably damaging |
Het |
| Abcb8 |
T |
C |
5: 24,610,879 (GRCm39) |
|
probably benign |
Het |
| Acad12 |
A |
T |
5: 121,742,243 (GRCm39) |
|
probably benign |
Het |
| Adam2 |
A |
T |
14: 66,283,595 (GRCm39) |
C436S |
probably damaging |
Het |
| Aebp2 |
T |
C |
6: 140,569,943 (GRCm39) |
|
probably benign |
Het |
| Akap8 |
A |
T |
17: 32,536,159 (GRCm39) |
C85S |
possibly damaging |
Het |
| Aldh1a3 |
C |
A |
7: 66,068,927 (GRCm39) |
R19L |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,955,559 (GRCm39) |
T848A |
possibly damaging |
Het |
| Bud13 |
C |
T |
9: 46,199,350 (GRCm39) |
A237V |
probably benign |
Het |
| Cbarp |
CGCCTCTGCTGCCTCT |
CGCCTCT |
10: 79,968,067 (GRCm39) |
|
probably benign |
Het |
| Ccz1 |
C |
T |
5: 143,929,328 (GRCm39) |
G367R |
probably damaging |
Het |
| Cep104 |
T |
C |
4: 154,065,681 (GRCm39) |
V56A |
possibly damaging |
Het |
| Chd6 |
C |
A |
2: 160,798,998 (GRCm39) |
R2362S |
probably damaging |
Het |
| Chd6 |
C |
T |
2: 160,798,999 (GRCm39) |
R2362K |
probably damaging |
Het |
| Cmc1 |
T |
C |
9: 117,944,443 (GRCm39) |
E25G |
probably benign |
Het |
| Cntnap5b |
T |
C |
1: 100,374,619 (GRCm39) |
S1123P |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,693,778 (GRCm39) |
L66* |
probably null |
Het |
| Crmp1 |
A |
G |
5: 37,440,212 (GRCm39) |
T329A |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp3a16 |
A |
G |
5: 145,378,843 (GRCm39) |
S393P |
possibly damaging |
Het |
| Cyp4f18 |
T |
A |
8: 72,749,975 (GRCm39) |
I225F |
probably damaging |
Het |
| Ddhd2 |
A |
G |
8: 26,231,726 (GRCm39) |
V432A |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,853,131 (GRCm39) |
I401M |
probably damaging |
Het |
| Foxq1 |
G |
A |
13: 31,743,314 (GRCm39) |
A139T |
probably damaging |
Het |
| Gm10428 |
G |
T |
11: 62,644,169 (GRCm39) |
|
probably benign |
Het |
| Gpr89 |
A |
G |
3: 96,800,196 (GRCm39) |
L134P |
probably damaging |
Het |
| Hjv |
T |
C |
3: 96,435,938 (GRCm39) |
S399P |
probably benign |
Het |
| Hrc |
A |
T |
7: 44,986,025 (GRCm39) |
|
probably null |
Het |
| Igf1r |
T |
A |
7: 67,857,001 (GRCm39) |
Y988N |
probably damaging |
Het |
| Igf2r |
A |
C |
17: 12,917,239 (GRCm39) |
|
probably null |
Het |
| Itga2b |
A |
G |
11: 102,357,100 (GRCm39) |
F260S |
probably benign |
Het |
| Kif2a |
T |
A |
13: 107,098,672 (GRCm39) |
N698I |
probably benign |
Het |
| Lap3 |
A |
C |
5: 45,662,147 (GRCm39) |
I316L |
probably benign |
Het |
| Map2k6 |
T |
G |
11: 110,290,197 (GRCm39) |
|
probably benign |
Het |
| Mtrex |
T |
A |
13: 113,054,196 (GRCm39) |
I146F |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,110,078 (GRCm39) |
E1422G |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,250,061 (GRCm39) |
V1081A |
probably benign |
Het |
| Nom1 |
A |
G |
5: 29,642,639 (GRCm39) |
E380G |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,882,573 (GRCm39) |
Y75F |
probably damaging |
Het |
| Or3a1b |
T |
A |
11: 74,012,335 (GRCm39) |
D73E |
probably damaging |
Het |
| Or51a24 |
G |
A |
7: 103,733,376 (GRCm39) |
R304W |
probably benign |
Het |
| Pkd1l1 |
A |
G |
11: 8,866,301 (GRCm39) |
V518A |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,981,279 (GRCm39) |
M521V |
probably benign |
Het |
| Qsox1 |
T |
A |
1: 155,655,274 (GRCm39) |
M630L |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,648,032 (GRCm39) |
L299P |
probably damaging |
Het |
| St6gal1 |
T |
G |
16: 23,139,805 (GRCm39) |
|
probably benign |
Het |
| Sult2a6 |
T |
C |
7: 13,984,283 (GRCm39) |
Y149C |
probably damaging |
Het |
| Tlr3 |
G |
A |
8: 45,855,808 (GRCm39) |
T124M |
probably benign |
Het |
| Tmem171 |
A |
G |
13: 98,829,019 (GRCm39) |
Y44H |
probably damaging |
Het |
| Usp35 |
C |
T |
7: 96,961,558 (GRCm39) |
V623I |
probably benign |
Het |
| Vangl2 |
T |
A |
1: 171,833,694 (GRCm39) |
H463L |
probably damaging |
Het |
| Vmn1r175 |
A |
C |
7: 23,507,905 (GRCm39) |
L241V |
probably benign |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,338 (GRCm39) |
K297I |
unknown |
Het |
| Vmn2r23 |
C |
A |
6: 123,689,718 (GRCm39) |
T198K |
probably benign |
Het |
| Vmn2r-ps69 |
T |
A |
7: 84,953,223 (GRCm39) |
|
noncoding transcript |
Het |
| Xirp2 |
A |
G |
2: 67,341,311 (GRCm39) |
Y1184C |
probably benign |
Het |
| Ythdc1 |
A |
G |
5: 86,983,810 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
C |
T |
10: 127,578,515 (GRCm39) |
A363V |
probably damaging |
Het |
| Zmiz1 |
T |
A |
14: 25,651,728 (GRCm39) |
I527K |
possibly damaging |
Het |
| Zmiz1 |
C |
A |
14: 25,651,730 (GRCm39) |
P534T |
probably damaging |
Het |
|
| Other mutations in Ccdc187 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01868:Ccdc187
|
APN |
2 |
26,170,960 (GRCm39) |
missense |
probably benign |
|
|
IGL02989:Ccdc187
|
APN |
2 |
26,166,443 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03017:Ccdc187
|
APN |
2 |
26,170,978 (GRCm39) |
missense |
probably benign |
|
|
IGL03059:Ccdc187
|
APN |
2 |
26,184,253 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL03117:Ccdc187
|
APN |
2 |
26,177,980 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0026:Ccdc187
|
UTSW |
2 |
26,171,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0144:Ccdc187
|
UTSW |
2 |
26,166,215 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1078:Ccdc187
|
UTSW |
2 |
26,184,389 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1226:Ccdc187
|
UTSW |
2 |
26,166,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1624:Ccdc187
|
UTSW |
2 |
26,171,087 (GRCm39) |
missense |
probably benign |
|
|
R1733:Ccdc187
|
UTSW |
2 |
26,183,670 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1851:Ccdc187
|
UTSW |
2 |
26,166,080 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2304:Ccdc187
|
UTSW |
2 |
26,171,029 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4278:Ccdc187
|
UTSW |
2 |
26,172,239 (GRCm39) |
intron |
probably benign |
|
|
R4344:Ccdc187
|
UTSW |
2 |
26,170,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5151:Ccdc187
|
UTSW |
2 |
26,183,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:Ccdc187
|
UTSW |
2 |
26,166,104 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5537:Ccdc187
|
UTSW |
2 |
26,166,237 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5762:Ccdc187
|
UTSW |
2 |
26,166,104 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5865:Ccdc187
|
UTSW |
2 |
26,183,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5925:Ccdc187
|
UTSW |
2 |
26,183,593 (GRCm39) |
missense |
probably benign |
|
|
R6261:Ccdc187
|
UTSW |
2 |
26,166,215 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6803:Ccdc187
|
UTSW |
2 |
26,179,791 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6888:Ccdc187
|
UTSW |
2 |
26,179,746 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6958:Ccdc187
|
UTSW |
2 |
26,179,731 (GRCm39) |
missense |
probably benign |
|
|
R7006:Ccdc187
|
UTSW |
2 |
26,171,102 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7358:Ccdc187
|
UTSW |
2 |
26,146,007 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7818:Ccdc187
|
UTSW |
2 |
26,166,186 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8048:Ccdc187
|
UTSW |
2 |
26,183,526 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8327:Ccdc187
|
UTSW |
2 |
26,170,630 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8353:Ccdc187
|
UTSW |
2 |
26,166,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8425:Ccdc187
|
UTSW |
2 |
26,171,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8453:Ccdc187
|
UTSW |
2 |
26,166,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8461:Ccdc187
|
UTSW |
2 |
26,183,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8534:Ccdc187
|
UTSW |
2 |
26,165,577 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8694:Ccdc187
|
UTSW |
2 |
26,165,505 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8745:Ccdc187
|
UTSW |
2 |
26,170,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8958:Ccdc187
|
UTSW |
2 |
26,165,577 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8972:Ccdc187
|
UTSW |
2 |
26,171,079 (GRCm39) |
missense |
probably benign |
|
|
R9214:Ccdc187
|
UTSW |
2 |
26,183,409 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9454:Ccdc187
|
UTSW |
2 |
26,166,114 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9542:Ccdc187
|
UTSW |
2 |
26,145,930 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9562:Ccdc187
|
UTSW |
2 |
26,183,698 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9565:Ccdc187
|
UTSW |
2 |
26,183,698 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9601:Ccdc187
|
UTSW |
2 |
26,143,445 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9702:Ccdc187
|
UTSW |
2 |
26,172,222 (GRCm39) |
missense |
unknown |
|
|
R9727:Ccdc187
|
UTSW |
2 |
26,171,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9790:Ccdc187
|
UTSW |
2 |
26,171,227 (GRCm39) |
missense |
probably benign |
|
|
R9791:Ccdc187
|
UTSW |
2 |
26,171,227 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ccdc187
|
UTSW |
2 |
26,171,519 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGGCATGACACCCATTG -3'
(R):5'- TCCTGCACTTCCAGTACAAG -3'
Sequencing Primer
(F):5'- ATTGTCCAGCCCTACCTTGG -3'
(R):5'- TACAAGCAAGCCCGGCTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation