Incidental Mutation 'R6952:Ccdc148'
ID |
543271 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc148
|
Ensembl Gene |
ENSMUSG00000036641 |
Gene Name |
coiled-coil domain containing 148 |
Synonyms |
|
MMRRC Submission |
045064-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R6952 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
58711082-58991027 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58713657 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 498
(H498R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076871
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077687]
[ENSMUST00000226455]
|
AlphaFold |
Q6P5U8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077687
AA Change: H498R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000076871 Gene: ENSMUSG00000036641 AA Change: H498R
Domain | Start | End | E-Value | Type |
coiled coil region
|
173 |
195 |
N/A |
INTRINSIC |
coiled coil region
|
289 |
353 |
N/A |
INTRINSIC |
low complexity region
|
369 |
382 |
N/A |
INTRINSIC |
coiled coil region
|
401 |
438 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226455
AA Change: H570R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
T |
G |
16: 20,368,484 (GRCm39) |
|
probably null |
Het |
Acap1 |
C |
A |
11: 69,776,343 (GRCm39) |
V219L |
probably benign |
Het |
Arpp21 |
G |
A |
9: 111,955,550 (GRCm39) |
P530S |
probably damaging |
Het |
Atp6v1b1 |
T |
C |
6: 83,731,792 (GRCm39) |
V224A |
probably damaging |
Het |
Brd3 |
T |
C |
2: 27,344,371 (GRCm39) |
D453G |
probably damaging |
Het |
Btbd10 |
A |
T |
7: 112,951,150 (GRCm39) |
|
probably null |
Het |
Cga |
A |
T |
4: 34,905,171 (GRCm39) |
Y65F |
possibly damaging |
Het |
Chd7 |
A |
T |
4: 8,856,797 (GRCm39) |
H136L |
probably damaging |
Het |
Chit1 |
T |
C |
1: 134,071,022 (GRCm39) |
Y34H |
probably damaging |
Het |
Cimap2 |
C |
G |
4: 106,467,596 (GRCm39) |
|
probably null |
Het |
Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
Dnhd1 |
T |
G |
7: 105,362,895 (GRCm39) |
V3819G |
probably damaging |
Het |
Dsg3 |
A |
T |
18: 20,658,216 (GRCm39) |
I276F |
possibly damaging |
Het |
Dusp1 |
T |
C |
17: 26,726,577 (GRCm39) |
S162G |
probably benign |
Het |
Entrep1 |
A |
T |
19: 23,962,082 (GRCm39) |
M307K |
possibly damaging |
Het |
Gga2 |
C |
A |
7: 121,598,111 (GRCm39) |
A328S |
probably benign |
Het |
Gpr183 |
A |
G |
14: 122,191,897 (GRCm39) |
I208T |
possibly damaging |
Het |
Haspin |
T |
C |
11: 73,026,971 (GRCm39) |
D706G |
possibly damaging |
Het |
Hdac5 |
T |
C |
11: 102,095,786 (GRCm39) |
I338V |
probably benign |
Het |
Ik |
C |
T |
18: 36,886,613 (GRCm39) |
R362C |
probably damaging |
Het |
Kdm4c |
T |
G |
4: 74,275,587 (GRCm39) |
C754W |
probably damaging |
Het |
Limk1 |
T |
A |
5: 134,699,332 (GRCm39) |
I142F |
possibly damaging |
Het |
Mccc2 |
T |
C |
13: 100,104,234 (GRCm39) |
E305G |
probably benign |
Het |
Mdm1 |
A |
G |
10: 118,003,962 (GRCm39) |
D639G |
probably damaging |
Het |
Mefv |
T |
G |
16: 3,528,744 (GRCm39) |
T566P |
probably damaging |
Het |
Mep1b |
G |
A |
18: 21,221,727 (GRCm39) |
V226I |
probably benign |
Het |
Mgmt |
T |
C |
7: 136,553,064 (GRCm39) |
M19T |
probably benign |
Het |
Mrgpra6 |
A |
T |
7: 46,835,693 (GRCm39) |
S243T |
probably benign |
Het |
Myh7 |
C |
T |
14: 55,229,197 (GRCm39) |
R169Q |
probably damaging |
Het |
Myo1b |
T |
C |
1: 51,801,668 (GRCm39) |
I917V |
probably damaging |
Het |
Or4a80 |
A |
T |
2: 89,582,971 (GRCm39) |
M67K |
possibly damaging |
Het |
Phlpp1 |
T |
C |
1: 106,100,209 (GRCm39) |
L159P |
probably benign |
Het |
Plekhh3 |
T |
C |
11: 101,056,482 (GRCm39) |
E371G |
probably damaging |
Het |
Rps6ka2 |
C |
A |
17: 7,495,377 (GRCm39) |
D21E |
probably benign |
Het |
Slc47a1 |
T |
A |
11: 61,235,280 (GRCm39) |
M518L |
probably benign |
Het |
Slitrk6 |
T |
C |
14: 110,987,974 (GRCm39) |
T578A |
probably benign |
Het |
Syne2 |
A |
T |
12: 75,974,205 (GRCm39) |
K1133N |
possibly damaging |
Het |
Taco1 |
T |
C |
11: 105,963,942 (GRCm39) |
S234P |
probably benign |
Het |
Trpv4 |
G |
A |
5: 114,771,263 (GRCm39) |
S422F |
probably damaging |
Het |
Tvp23b |
T |
A |
11: 62,775,952 (GRCm39) |
D97E |
possibly damaging |
Het |
Vmn1r37 |
A |
T |
6: 66,708,523 (GRCm39) |
I13L |
probably benign |
Het |
Vrk2 |
T |
A |
11: 26,485,597 (GRCm39) |
K130N |
probably damaging |
Het |
Wdfy4 |
C |
T |
14: 32,681,923 (GRCm39) |
R3016Q |
probably damaging |
Het |
Zfp383 |
T |
C |
7: 29,614,380 (GRCm39) |
S212P |
probably benign |
Het |
|
Other mutations in Ccdc148 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01362:Ccdc148
|
APN |
2 |
58,719,811 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02056:Ccdc148
|
APN |
2 |
58,894,081 (GRCm39) |
splice site |
probably benign |
|
IGL02470:Ccdc148
|
APN |
2 |
58,891,911 (GRCm39) |
missense |
probably damaging |
0.96 |
PIT4585001:Ccdc148
|
UTSW |
2 |
58,872,988 (GRCm39) |
missense |
probably benign |
0.01 |
R0068:Ccdc148
|
UTSW |
2 |
58,717,629 (GRCm39) |
missense |
probably benign |
|
R0068:Ccdc148
|
UTSW |
2 |
58,717,629 (GRCm39) |
missense |
probably benign |
|
R0348:Ccdc148
|
UTSW |
2 |
58,894,084 (GRCm39) |
splice site |
probably null |
|
R1464:Ccdc148
|
UTSW |
2 |
58,824,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R1464:Ccdc148
|
UTSW |
2 |
58,824,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R1464:Ccdc148
|
UTSW |
2 |
58,796,374 (GRCm39) |
nonsense |
probably null |
|
R1464:Ccdc148
|
UTSW |
2 |
58,796,374 (GRCm39) |
nonsense |
probably null |
|
R1675:Ccdc148
|
UTSW |
2 |
58,870,566 (GRCm39) |
missense |
probably damaging |
0.96 |
R1677:Ccdc148
|
UTSW |
2 |
58,892,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R1832:Ccdc148
|
UTSW |
2 |
58,891,911 (GRCm39) |
missense |
probably damaging |
0.96 |
R1918:Ccdc148
|
UTSW |
2 |
58,872,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R2114:Ccdc148
|
UTSW |
2 |
58,892,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R2115:Ccdc148
|
UTSW |
2 |
58,892,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R4657:Ccdc148
|
UTSW |
2 |
58,891,900 (GRCm39) |
missense |
probably benign |
0.04 |
R4921:Ccdc148
|
UTSW |
2 |
58,719,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R5022:Ccdc148
|
UTSW |
2 |
58,717,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R5809:Ccdc148
|
UTSW |
2 |
58,713,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R6164:Ccdc148
|
UTSW |
2 |
58,713,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R6987:Ccdc148
|
UTSW |
2 |
58,872,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R7121:Ccdc148
|
UTSW |
2 |
58,717,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R7452:Ccdc148
|
UTSW |
2 |
58,717,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R7493:Ccdc148
|
UTSW |
2 |
58,899,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R7574:Ccdc148
|
UTSW |
2 |
58,713,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R7666:Ccdc148
|
UTSW |
2 |
58,824,512 (GRCm39) |
missense |
probably damaging |
0.99 |
R7763:Ccdc148
|
UTSW |
2 |
58,713,648 (GRCm39) |
missense |
probably benign |
|
R8045:Ccdc148
|
UTSW |
2 |
58,892,083 (GRCm39) |
critical splice donor site |
probably null |
|
R8865:Ccdc148
|
UTSW |
2 |
58,719,832 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8932:Ccdc148
|
UTSW |
2 |
58,894,054 (GRCm39) |
missense |
probably benign |
0.40 |
R9597:Ccdc148
|
UTSW |
2 |
58,893,397 (GRCm39) |
missense |
probably benign |
0.08 |
X0062:Ccdc148
|
UTSW |
2 |
58,893,460 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCGAACAAAACTTTGAAGC -3'
(R):5'- ATGCGACTTGGGAAACAAAC -3'
Sequencing Primer
(F):5'- ATAAATGCTGTGATTTCTCTGTGCAG -3'
(R):5'- CGACTTGGGAAACAAACCGGAAG -3'
|
Posted On |
2018-11-28 |