Incidental Mutation 'R6599:Ccdc7b'
ID |
525121 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc7b
|
Ensembl Gene |
ENSMUSG00000056018 |
Gene Name |
coiled-coil domain containing 7B |
Synonyms |
1700008F21Rik |
MMRRC Submission |
044723-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R6599 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
129793615-129910213 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 129893462 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 96
(F96L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026912]
[ENSMUST00000108745]
[ENSMUST00000140887]
[ENSMUST00000148234]
|
AlphaFold |
E9Q9Y3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026912
AA Change: F299L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000026912 Gene: ENSMUSG00000056018 AA Change: F299L
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: F96L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000104378 Gene: ENSMUSG00000056018 AA Change: F96L
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: ENSMUST00000140887
|
SMART Domains |
Protein: ENSMUSP00000119034 Gene: ENSMUSG00000056018
Domain | Start | End | E-Value | Type |
Pfam:BioT2
|
1 |
153 |
1.3e-64 |
PFAM |
|
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: ENSMUST00000148621
|
SMART Domains |
Protein: ENSMUSP00000117707 Gene: ENSMUSG00000056018
Domain | Start | End | E-Value | Type |
coiled coil region
|
43 |
80 |
N/A |
INTRINSIC |
low complexity region
|
94 |
105 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189055
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
Validation Efficiency |
94% (32/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
T |
C |
3: 137,882,250 (GRCm39) |
H150R |
probably benign |
Het |
Acbd5 |
C |
T |
2: 22,959,092 (GRCm39) |
|
probably benign |
Het |
Adcyap1r1 |
G |
A |
6: 55,456,979 (GRCm39) |
V237M |
probably damaging |
Het |
Akr1c6 |
T |
G |
13: 4,499,318 (GRCm39) |
|
probably null |
Het |
Cubn |
T |
C |
2: 13,315,484 (GRCm39) |
H2983R |
possibly damaging |
Het |
Dhx40 |
T |
A |
11: 86,695,175 (GRCm39) |
I112L |
possibly damaging |
Het |
Dnmbp |
A |
T |
19: 43,845,025 (GRCm39) |
D1070E |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Ep300 |
G |
C |
15: 81,470,914 (GRCm39) |
D29H |
unknown |
Het |
Exoc3 |
T |
C |
13: 74,337,277 (GRCm39) |
|
probably null |
Het |
Fcsk |
A |
T |
8: 111,619,915 (GRCm39) |
|
probably null |
Het |
Gm6401 |
C |
A |
14: 41,788,821 (GRCm39) |
E83* |
probably null |
Het |
Gm8267 |
G |
T |
14: 44,955,367 (GRCm39) |
T218K |
possibly damaging |
Het |
H1f3 |
T |
C |
13: 23,739,451 (GRCm39) |
|
probably null |
Het |
Hif3a |
T |
A |
7: 16,776,530 (GRCm39) |
D470V |
possibly damaging |
Het |
Igf2r |
T |
C |
17: 12,917,505 (GRCm39) |
S1526G |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,299,749 (GRCm39) |
D3101G |
probably damaging |
Het |
Megf6 |
A |
G |
4: 154,342,544 (GRCm39) |
|
probably null |
Het |
Mthfs |
G |
A |
9: 89,121,961 (GRCm39) |
G149D |
probably damaging |
Het |
Nnmt |
T |
C |
9: 48,514,669 (GRCm39) |
D116G |
probably benign |
Het |
Nqo2 |
T |
C |
13: 34,163,539 (GRCm39) |
F22S |
probably damaging |
Het |
Or1e29 |
T |
A |
11: 73,667,506 (GRCm39) |
M216L |
probably benign |
Het |
Or7e175 |
T |
C |
9: 20,049,239 (GRCm39) |
S276P |
probably damaging |
Het |
Parm1 |
T |
C |
5: 91,741,718 (GRCm39) |
S29P |
possibly damaging |
Het |
Prokr2 |
C |
T |
2: 132,215,469 (GRCm39) |
V331M |
possibly damaging |
Het |
Ptch1 |
T |
A |
13: 63,670,918 (GRCm39) |
I871F |
probably damaging |
Het |
Rps6ka5 |
C |
A |
12: 100,564,168 (GRCm39) |
G227V |
probably damaging |
Het |
Tcaim |
C |
T |
9: 122,663,844 (GRCm39) |
Q445* |
probably null |
Het |
Trappc14 |
G |
T |
5: 138,261,720 (GRCm39) |
|
probably null |
Het |
Trpc7 |
T |
C |
13: 56,958,193 (GRCm39) |
|
probably null |
Het |
Ubxn7 |
A |
G |
16: 32,203,743 (GRCm39) |
E465G |
probably damaging |
Het |
Unk |
G |
A |
11: 115,938,628 (GRCm39) |
R77Q |
probably damaging |
Het |
Vmn1r226 |
A |
T |
17: 20,908,551 (GRCm39) |
N261I |
probably benign |
Het |
Vmn1r87 |
T |
A |
7: 12,865,886 (GRCm39) |
K134* |
probably null |
Het |
Vmn2r10 |
T |
A |
5: 109,143,944 (GRCm39) |
I669L |
probably benign |
Het |
Vmn2r115 |
A |
G |
17: 23,565,006 (GRCm39) |
I298V |
probably benign |
Het |
Yipf2 |
T |
C |
9: 21,501,144 (GRCm39) |
K85E |
probably damaging |
Het |
Zfp979 |
A |
T |
4: 147,698,083 (GRCm39) |
C209S |
probably benign |
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 |
R6690:Ccdc7b
|
UTSW |
8 |
129,904,700 (GRCm39) |
missense |
probably benign |
0.00 |
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'- CTGACCTTCAAGCATAAACTATGTC -3'
(R):5'- TCAGAGGACAGCAGAGTTCC -3'
Sequencing Primer
(F):5'- GCATAAACTATGTCATGAGCTCTCTC -3'
(R):5'- TTCCAAAAGGGCAGATGACC -3'
|
Posted On |
2018-06-22 |