Incidental Mutation 'R8706:Ccdc142'
| ID |
669272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc142
|
| Ensembl Gene |
ENSMUSG00000107499 |
| Gene Name |
coiled-coil domain containing 142 |
| Synonyms |
A230058J24Rik |
| MMRRC Submission |
068560-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R8706 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83078582-83085375 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83080678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 470
(E470G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101253]
[ENSMUST00000101254]
|
| AlphaFold |
Q8CAI1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101253
AA Change: E405G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098811
Gene: ENSMUSG00000079511
AA Change: E405G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
263 |
N/A |
INTRINSIC |
|
Pfam:CCDC142
|
286 |
714 |
1.6e-159 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101254
AA Change: E470G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098812
Gene: ENSMUSG00000107499
AA Change: E470G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
263 |
N/A |
INTRINSIC |
|
Pfam:CCDC142
|
279 |
714 |
8.5e-174 |
PFAM |
|
| Meta Mutation Damage Score |
0.0792 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
C |
T |
9: 59,222,456 (GRCm39) |
T461I |
probably benign |
Het |
| Adra2b |
A |
G |
2: 127,206,487 (GRCm39) |
T335A |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,545,353 (GRCm39) |
|
probably null |
Het |
| C1rl |
T |
C |
6: 124,470,191 (GRCm39) |
|
probably null |
Het |
| Ccm2 |
T |
A |
11: 6,539,447 (GRCm39) |
I163N |
possibly damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,157,562 (GRCm39) |
F1596L |
probably benign |
Het |
| Chrna4 |
A |
T |
2: 180,679,307 (GRCm39) |
F47I |
probably damaging |
Het |
| Cx3cl1 |
A |
G |
8: 95,506,876 (GRCm39) |
T294A |
probably benign |
Het |
| Dcun1d4 |
C |
T |
5: 73,714,658 (GRCm39) |
T275M |
probably damaging |
Het |
| Dpp4 |
T |
C |
2: 62,208,647 (GRCm39) |
I166V |
probably benign |
Het |
| Dynap |
C |
T |
18: 70,374,062 (GRCm39) |
E155K |
unknown |
Het |
| Fam171b |
A |
G |
2: 83,690,864 (GRCm39) |
T276A |
probably benign |
Het |
| Fmo4 |
G |
A |
1: 162,621,592 (GRCm39) |
Q540* |
probably null |
Het |
| Gtf2i |
C |
A |
5: 134,278,733 (GRCm39) |
V633F |
probably damaging |
Het |
| Kmt5c |
G |
T |
7: 4,749,153 (GRCm39) |
R262L |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
| Mrps27 |
T |
C |
13: 99,541,508 (GRCm39) |
V163A |
probably damaging |
Het |
| Myh7b |
G |
A |
2: 155,453,669 (GRCm39) |
|
probably null |
Het |
| Myo15a |
A |
G |
11: 60,370,443 (GRCm39) |
T1068A |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,145,010 (GRCm39) |
E369G |
unknown |
Het |
| Neb |
T |
A |
2: 52,181,326 (GRCm39) |
M1094L |
probably benign |
Het |
| Osbpl10 |
T |
C |
9: 115,036,688 (GRCm39) |
L228P |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,787,765 (GRCm39) |
R799S |
possibly damaging |
Het |
| Prkn |
T |
C |
17: 11,456,472 (GRCm39) |
S99P |
probably benign |
Het |
| Rassf5 |
G |
T |
1: 131,172,782 (GRCm39) |
T29N |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,776 (GRCm39) |
K370E |
probably benign |
Het |
| Tmprss11g |
T |
A |
5: 86,644,404 (GRCm39) |
S147C |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,569,134 (GRCm39) |
T27253I |
probably damaging |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,715 (GRCm39) |
V15E |
possibly damaging |
Het |
| Wnt6 |
A |
C |
1: 74,821,947 (GRCm39) |
D176A |
possibly damaging |
Het |
|
| Other mutations in Ccdc142 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4515001:Ccdc142
|
UTSW |
6 |
83,080,238 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0636:Ccdc142
|
UTSW |
6 |
83,084,179 (GRCm39) |
unclassified |
probably benign |
|
|
R1828:Ccdc142
|
UTSW |
6 |
83,084,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1973:Ccdc142
|
UTSW |
6 |
83,079,544 (GRCm39) |
missense |
probably benign |
|
|
R2143:Ccdc142
|
UTSW |
6 |
83,079,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2208:Ccdc142
|
UTSW |
6 |
83,084,941 (GRCm39) |
splice site |
probably null |
|
|
R4329:Ccdc142
|
UTSW |
6 |
83,083,997 (GRCm39) |
unclassified |
probably benign |
|
|
R5230:Ccdc142
|
UTSW |
6 |
83,084,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Ccdc142
|
UTSW |
6 |
83,080,603 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7498:Ccdc142
|
UTSW |
6 |
83,080,212 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7710:Ccdc142
|
UTSW |
6 |
83,078,677 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7759:Ccdc142
|
UTSW |
6 |
83,084,912 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8045:Ccdc142
|
UTSW |
6 |
83,080,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8217:Ccdc142
|
UTSW |
6 |
83,080,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8712:Ccdc142
|
UTSW |
6 |
83,079,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8974:Ccdc142
|
UTSW |
6 |
83,078,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9059:Ccdc142
|
UTSW |
6 |
83,079,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9608:Ccdc142
|
UTSW |
6 |
83,084,082 (GRCm39) |
nonsense |
probably null |
|
|
R9631:Ccdc142
|
UTSW |
6 |
83,084,142 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9647:Ccdc142
|
UTSW |
6 |
83,079,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGCTCCTGCTCCAGAAG -3'
(R):5'- AGGGAGTATGAATCATAACTGACCATG -3'
Sequencing Primer
(F):5'- GGATCTGCCTGTGAGTGG -3'
(R):5'- TGAATCATAACTGACCATGAGTTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation