Incidental Mutation 'R5416:Ccdc187'
| ID |
427709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc187
|
| Ensembl Gene |
ENSMUSG00000048038 |
| Gene Name |
coiled-coil domain containing 187 |
| Synonyms |
4932418E24Rik |
| MMRRC Submission |
042985-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R5416 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,871,331 (GRCm39) |
E689D |
probably damaging |
Het |
| Acsl6 |
A |
G |
11: 54,227,997 (GRCm39) |
E339G |
probably benign |
Het |
| Adcy3 |
G |
A |
12: 4,259,308 (GRCm39) |
E861K |
probably damaging |
Het |
| Adrm1 |
C |
T |
2: 179,817,930 (GRCm39) |
T394I |
probably benign |
Het |
| Adsl |
T |
A |
15: 80,836,384 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,657,551 (GRCm39) |
C1854S |
probably damaging |
Het |
| C87436 |
A |
G |
6: 86,442,832 (GRCm39) |
Y458C |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,341,525 (GRCm39) |
D1161G |
probably damaging |
Het |
| Ccr1 |
G |
T |
9: 123,764,413 (GRCm39) |
P39H |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,226,809 (GRCm39) |
Y90C |
probably damaging |
Het |
| Chadl |
T |
C |
15: 81,578,100 (GRCm39) |
R510G |
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,141,211 (GRCm39) |
T115A |
probably benign |
Het |
| Clptm1 |
C |
A |
7: 19,367,741 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,020,786 (GRCm39) |
R386* |
probably null |
Het |
| Ctsj |
G |
T |
13: 61,152,337 (GRCm39) |
L10M |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,688,517 (GRCm39) |
D302G |
probably benign |
Het |
| Edrf1 |
T |
C |
7: 133,243,131 (GRCm39) |
F166L |
possibly damaging |
Het |
| Epha1 |
A |
T |
6: 42,342,805 (GRCm39) |
M248K |
probably damaging |
Het |
| Evpl |
C |
A |
11: 116,125,085 (GRCm39) |
V126L |
probably benign |
Het |
| Fam83d |
T |
C |
2: 158,627,552 (GRCm39) |
C414R |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,194,514 (GRCm39) |
N1175S |
possibly damaging |
Het |
| Fhad1 |
G |
A |
4: 141,646,113 (GRCm39) |
T283I |
probably benign |
Het |
| Fuca1 |
A |
G |
4: 135,650,291 (GRCm39) |
T121A |
probably damaging |
Het |
| Gm13941 |
A |
T |
2: 110,925,079 (GRCm39) |
S175T |
unknown |
Het |
| Gpr107 |
T |
A |
2: 31,075,560 (GRCm39) |
I357N |
probably damaging |
Het |
| Gpr161 |
T |
A |
1: 165,149,030 (GRCm39) |
H466Q |
probably benign |
Het |
| Hsd3b5 |
A |
G |
3: 98,526,466 (GRCm39) |
F327L |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Itgb7 |
A |
T |
15: 102,125,744 (GRCm39) |
D628E |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,393,322 (GRCm39) |
D236G |
possibly damaging |
Het |
| Or56b2j |
C |
T |
7: 104,352,923 (GRCm39) |
L50F |
probably benign |
Het |
| Or6d14 |
A |
T |
6: 116,534,166 (GRCm39) |
Y260F |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,490,008 (GRCm39) |
Y562C |
probably damaging |
Het |
| Phkg2 |
A |
G |
7: 127,182,107 (GRCm39) |
H376R |
possibly damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,673,416 (GRCm39) |
T1018I |
probably damaging |
Het |
| Ppp6r1 |
A |
T |
7: 4,642,747 (GRCm39) |
D532E |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,623,814 (GRCm39) |
L3259P |
probably damaging |
Het |
| Prkg2 |
A |
T |
5: 99,091,326 (GRCm39) |
D641E |
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,216,525 (GRCm39) |
T105A |
probably benign |
Het |
| Ptprs |
T |
C |
17: 56,742,724 (GRCm39) |
T473A |
probably damaging |
Het |
| Pwp2 |
G |
T |
10: 78,018,835 (GRCm39) |
N57K |
probably damaging |
Het |
| Rnf216 |
G |
T |
5: 143,001,526 (GRCm39) |
C733* |
probably null |
Het |
| Serpina1f |
T |
A |
12: 103,660,203 (GRCm39) |
K26N |
possibly damaging |
Het |
| Sez6l2 |
T |
A |
7: 126,561,058 (GRCm39) |
C448S |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,724,607 (GRCm39) |
L216M |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,365,433 (GRCm39) |
S117P |
probably benign |
Het |
| Sorl1 |
A |
T |
9: 41,913,932 (GRCm39) |
C1332* |
probably null |
Het |
| Specc1 |
T |
C |
11: 62,009,735 (GRCm39) |
V497A |
probably benign |
Het |
| Tmem204 |
T |
C |
17: 25,277,300 (GRCm39) |
E195G |
probably damaging |
Het |
| Tnfrsf13b |
T |
C |
11: 61,037,849 (GRCm39) |
|
probably null |
Het |
| Ttll5 |
G |
A |
12: 86,059,602 (GRCm39) |
V1250M |
possibly damaging |
Het |
| Ube4a |
G |
A |
9: 44,852,476 (GRCm39) |
T681I |
probably damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,790,879 (GRCm39) |
V404I |
probably benign |
Het |
| Yeats2 |
T |
C |
16: 20,030,319 (GRCm39) |
S919P |
probably benign |
Het |
| Zfp575 |
C |
T |
7: 24,286,147 (GRCm39) |
G3D |
probably benign |
Het |
| Zfp644 |
C |
T |
5: 106,766,294 (GRCm39) |
|
silent |
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 |
|
R5537:Ccdc187
|
UTSW |
2 |
26,166,237 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5761:Ccdc187
|
UTSW |
2 |
26,166,104 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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'- AGGATCATCCAACAGGCATGAC -3'
(R):5'- TGCACTTCCAGTACAAGCAAG -3'
Sequencing Primer
(F):5'- ACAGGCATGACACCCATTG -3'
(R):5'- TACAAGCAAGCCCGGCTG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation