Incidental Mutation 'R6690:Ccdc7b'
| ID |
530384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc7b
|
| Ensembl Gene |
ENSMUSG00000056018 |
| Gene Name |
coiled-coil domain containing 7B |
| Synonyms |
1700008F21Rik |
| MMRRC Submission |
044808-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R6690 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
129793615-129910213 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129904700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 113
(T113A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026912]
[ENSMUST00000108745]
[ENSMUST00000148234]
|
| AlphaFold |
E9Q9Y3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026912
AA Change: T316A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000026912
Gene: ENSMUSG00000056018
AA Change: T316A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BioT2
|
1 |
93 |
1.7e-36 |
PFAM |
|
coiled coil region
|
225 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000108744
|
| SMART Domains |
Protein: ENSMUSP00000104377
Gene: ENSMUSG00000056018
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
22 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108745
AA Change: T113A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104378
Gene: ENSMUSG00000056018
AA Change: T113A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
22 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148234
|
| SMART Domains |
Protein: ENSMUSP00000118197
Gene: ENSMUSG00000056018
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BioT2
|
1 |
153 |
1.3e-64 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189055
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,115,062 (GRCm39) |
G628D |
probably damaging |
Het |
| Ahnak |
G |
T |
19: 8,986,945 (GRCm39) |
G2743V |
probably benign |
Het |
| Akr1c14 |
A |
T |
13: 4,113,713 (GRCm39) |
T82S |
possibly damaging |
Het |
| Cep152 |
A |
T |
2: 125,406,290 (GRCm39) |
L1414Q |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,464,694 (GRCm39) |
E658G |
possibly damaging |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Coro6 |
A |
G |
11: 77,356,606 (GRCm39) |
T105A |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,368,971 (GRCm39) |
I232T |
probably damaging |
Het |
| Dmrt1 |
A |
G |
19: 25,523,449 (GRCm39) |
T267A |
probably benign |
Het |
| Fam149a |
G |
T |
8: 45,802,071 (GRCm39) |
A387E |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 39,037,688 (GRCm39) |
G3780D |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,910,824 (GRCm39) |
L1998* |
probably null |
Het |
| Iqcf6 |
C |
T |
9: 106,504,501 (GRCm39) |
T55I |
possibly damaging |
Het |
| Mterf3 |
G |
A |
13: 67,065,110 (GRCm39) |
L264F |
probably damaging |
Het |
| Or10k2 |
G |
T |
8: 84,267,904 (GRCm39) |
V44L |
probably benign |
Het |
| Or8g32 |
A |
G |
9: 39,305,845 (GRCm39) |
I253V |
probably benign |
Het |
| Pcdhgb7 |
A |
T |
18: 37,886,050 (GRCm39) |
I407F |
probably benign |
Het |
| Pip4k2b |
T |
C |
11: 97,620,393 (GRCm39) |
D114G |
probably damaging |
Het |
| Plbd1 |
G |
T |
6: 136,612,598 (GRCm39) |
N198K |
probably damaging |
Het |
| Prkcb |
T |
C |
7: 121,888,737 (GRCm39) |
I57T |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,769,558 (GRCm39) |
|
probably null |
Het |
| Slc26a8 |
A |
G |
17: 28,863,629 (GRCm39) |
I710T |
possibly damaging |
Het |
| Smc2 |
A |
T |
4: 52,449,375 (GRCm39) |
I179L |
probably benign |
Het |
| Tmub2 |
C |
T |
11: 102,178,345 (GRCm39) |
H83Y |
probably damaging |
Het |
| Trip11 |
C |
A |
12: 101,851,710 (GRCm39) |
D785Y |
possibly damaging |
Het |
| Vill |
A |
G |
9: 118,890,975 (GRCm39) |
T194A |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,695,890 (GRCm39) |
D174G |
probably damaging |
Het |
|
| Other mutations in Ccdc7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Ccdc7b
|
APN |
8 |
129,904,838 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01751:Ccdc7b
|
APN |
8 |
129,863,049 (GRCm39) |
splice site |
probably benign |
|
|
IGL02529:Ccdc7b
|
APN |
8 |
129,904,706 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02596:Ccdc7b
|
APN |
8 |
129,798,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0107:Ccdc7b
|
UTSW |
8 |
129,904,678 (GRCm39) |
splice site |
probably benign |
|
|
R0628:Ccdc7b
|
UTSW |
8 |
129,837,498 (GRCm39) |
intron |
probably benign |
|
|
R0709:Ccdc7b
|
UTSW |
8 |
129,863,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1317:Ccdc7b
|
UTSW |
8 |
129,863,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1594:Ccdc7b
|
UTSW |
8 |
129,904,838 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2290:Ccdc7b
|
UTSW |
8 |
129,857,587 (GRCm39) |
splice site |
probably benign |
|
|
R4112:Ccdc7b
|
UTSW |
8 |
129,811,708 (GRCm39) |
start gained |
probably benign |
|
|
R4585:Ccdc7b
|
UTSW |
8 |
129,837,401 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4586:Ccdc7b
|
UTSW |
8 |
129,837,401 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4747:Ccdc7b
|
UTSW |
8 |
129,904,716 (GRCm39) |
missense |
probably benign |
|
|
R4978:Ccdc7b
|
UTSW |
8 |
129,836,688 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4988:Ccdc7b
|
UTSW |
8 |
129,872,013 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5470:Ccdc7b
|
UTSW |
8 |
129,799,081 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5732:Ccdc7b
|
UTSW |
8 |
129,799,195 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6590:Ccdc7b
|
UTSW |
8 |
129,904,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6599:Ccdc7b
|
UTSW |
8 |
129,893,462 (GRCm39) |
missense |
probably benign |
|
|
R6881:Ccdc7b
|
UTSW |
8 |
129,799,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7042:Ccdc7b
|
UTSW |
8 |
129,811,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7728:Ccdc7b
|
UTSW |
8 |
129,799,171 (GRCm39) |
missense |
unknown |
|
|
R7891:Ccdc7b
|
UTSW |
8 |
129,799,146 (GRCm39) |
missense |
unknown |
|
|
R8213:Ccdc7b
|
UTSW |
8 |
129,904,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8708:Ccdc7b
|
UTSW |
8 |
129,863,095 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8836:Ccdc7b
|
UTSW |
8 |
129,857,512 (GRCm39) |
splice site |
probably benign |
|
|
R8847:Ccdc7b
|
UTSW |
8 |
129,872,082 (GRCm39) |
missense |
|
|
|
R9272:Ccdc7b
|
UTSW |
8 |
129,893,459 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9287:Ccdc7b
|
UTSW |
8 |
129,890,321 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9478:Ccdc7b
|
UTSW |
8 |
129,837,473 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTGAAGATGGCAACTTGG -3'
(R):5'- GGTCAGTTTCTCCCTCACCTGA -3'
Sequencing Primer
(F):5'- CAACTTGGGAAAATGTCTGTGC -3'
(R):5'- GATCCTTCCTTTGTTCACCCAACTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation