Incidental Mutation 'R4404:Ccdc188'
| ID |
326768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc188
|
| Ensembl Gene |
ENSMUSG00000090777 |
| Gene Name |
coiled-coil domain containing 188 |
| Synonyms |
Gm7873 |
| MMRRC Submission |
041133-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R4404 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
18035743-18038212 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18036284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 153
(Q153R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076957]
[ENSMUST00000167061]
[ENSMUST00000231369]
[ENSMUST00000231860]
[ENSMUST00000231965]
|
| AlphaFold |
A0A338P6G2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076957
|
| SMART Domains |
Protein: ENSMUSP00000076224
Gene: ENSMUSG00000060166
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
34 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
99 |
224 |
4.8e-36 |
PFAM |
|
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
563 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
644 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167061
AA Change: Q84R
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132278
Gene: ENSMUSG00000090777
AA Change: Q84R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
71 |
N/A |
INTRINSIC |
|
coiled coil region
|
88 |
123 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231369
AA Change: Q153R
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231412
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231823
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231860
AA Change: Q153R
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231965
AA Change: Q153R
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232501
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cimap3 |
G |
A |
3: 105,908,684 (GRCm39) |
P7L |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,404,866 (GRCm39) |
L1721* |
probably null |
Het |
| Fcsk |
T |
A |
8: 111,616,933 (GRCm39) |
T406S |
probably benign |
Het |
| Fer |
A |
T |
17: 64,248,284 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
T |
C |
10: 51,504,639 (GRCm39) |
I68M |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,464,489 (GRCm39) |
|
probably null |
Het |
| Gtf3c4 |
T |
C |
2: 28,716,761 (GRCm39) |
D813G |
probably damaging |
Het |
| Hars2 |
G |
T |
18: 36,918,989 (GRCm39) |
C83F |
probably damaging |
Het |
| Htr6 |
A |
G |
4: 138,789,513 (GRCm39) |
S251P |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,236,972 (GRCm39) |
T1070A |
probably benign |
Het |
| Il22ra1 |
A |
T |
4: 135,464,742 (GRCm39) |
E149D |
possibly damaging |
Het |
| Lama3 |
G |
A |
18: 12,715,588 (GRCm39) |
M1681I |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,518,828 (GRCm39) |
G1878D |
probably damaging |
Het |
| Mcc |
G |
A |
18: 44,892,365 (GRCm39) |
T83M |
probably benign |
Het |
| Nol11 |
A |
T |
11: 107,064,551 (GRCm39) |
C468S |
probably damaging |
Het |
| Nomo1 |
A |
G |
7: 45,706,092 (GRCm39) |
N482S |
probably benign |
Het |
| Npy5r |
C |
T |
8: 67,134,644 (GRCm39) |
V50I |
probably benign |
Het |
| Or8g21 |
T |
C |
9: 38,905,865 (GRCm39) |
I289V |
possibly damaging |
Het |
| Pam |
T |
C |
1: 97,782,446 (GRCm39) |
|
probably benign |
Het |
| Pank4 |
C |
T |
4: 155,064,613 (GRCm39) |
T724I |
probably benign |
Het |
| Pramel34 |
T |
A |
5: 93,785,572 (GRCm39) |
H236L |
possibly damaging |
Het |
| Sertm1 |
C |
T |
3: 54,806,746 (GRCm39) |
C93Y |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,833,651 (GRCm39) |
T444A |
probably damaging |
Het |
| Trpm7 |
C |
A |
2: 126,675,635 (GRCm39) |
L489F |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Usp25 |
A |
C |
16: 76,912,341 (GRCm39) |
K1020T |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,877,511 (GRCm39) |
T511A |
probably benign |
Het |
| Zdhhc15 |
G |
A |
X: 103,604,294 (GRCm39) |
R322* |
probably null |
Het |
|
| Other mutations in Ccdc188 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0309:Ccdc188
|
UTSW |
16 |
18,037,169 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0594:Ccdc188
|
UTSW |
16 |
18,036,784 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1479:Ccdc188
|
UTSW |
16 |
18,037,154 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1757:Ccdc188
|
UTSW |
16 |
18,036,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1986:Ccdc188
|
UTSW |
16 |
18,036,707 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2327:Ccdc188
|
UTSW |
16 |
18,037,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4690:Ccdc188
|
UTSW |
16 |
18,036,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Ccdc188
|
UTSW |
16 |
18,036,083 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5238:Ccdc188
|
UTSW |
16 |
18,037,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6844:Ccdc188
|
UTSW |
16 |
18,036,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7811:Ccdc188
|
UTSW |
16 |
18,036,314 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7832:Ccdc188
|
UTSW |
16 |
18,036,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8066:Ccdc188
|
UTSW |
16 |
18,037,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8101:Ccdc188
|
UTSW |
16 |
18,035,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8194:Ccdc188
|
UTSW |
16 |
18,036,244 (GRCm39) |
missense |
probably benign |
|
|
R9671:Ccdc188
|
UTSW |
16 |
18,036,268 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCCCTGGGATGTTTCTG -3'
(R):5'- ATAGAGGTAGGAACTGCTGCC -3'
Sequencing Primer
(F):5'- TTTCTGTCAAGCGAAGGAGAGATCC -3'
(R):5'- CGAAGGTCCTGGTTCTGC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation