Incidental Mutation 'R5732:Ccdc7b'
| ID |
501395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc7b
|
| Ensembl Gene |
ENSMUSG00000056018 |
| Gene Name |
coiled-coil domain containing 7B |
| Synonyms |
1700008F21Rik |
| MMRRC Submission |
043347-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R5732 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
129793615-129910213 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129799195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 91
(M91V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026912]
[ENSMUST00000108745]
[ENSMUST00000140887]
[ENSMUST00000148234]
|
| AlphaFold |
E9Q9Y3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000026912
AA Change: M91V
|
| SMART Domains |
Protein: ENSMUSP00000026912
Gene: ENSMUSG00000056018
AA Change: M91V
| 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 |
probably benign
Transcript: ENSMUST00000108745
|
| SMART Domains |
Protein: ENSMUSP00000104378
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 |
possibly damaging
Transcript: ENSMUST00000140887
AA Change: M91V
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000119034
Gene: ENSMUSG00000056018
AA Change: M91V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BioT2
|
1 |
153 |
1.3e-64 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148234
AA Change: M91V
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118197
Gene: ENSMUSG00000056018
AA Change: M91V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BioT2
|
1 |
153 |
1.3e-64 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.8%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
T |
A |
9: 118,977,462 (GRCm39) |
M407L |
possibly damaging |
Het |
| Acsf2 |
T |
C |
11: 94,460,768 (GRCm39) |
|
probably benign |
Het |
| Apob |
A |
G |
12: 8,060,353 (GRCm39) |
D2945G |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,307,490 (GRCm39) |
Y1475H |
probably damaging |
Het |
| Capn5 |
A |
G |
7: 97,778,593 (GRCm39) |
L342P |
possibly damaging |
Het |
| Ccdc152 |
A |
G |
15: 3,321,860 (GRCm39) |
|
probably null |
Het |
| Cd3g |
T |
C |
9: 44,884,929 (GRCm39) |
E105G |
possibly damaging |
Het |
| Cdadc1 |
A |
G |
14: 59,834,360 (GRCm39) |
L44P |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,167,096 (GRCm39) |
V1852A |
possibly damaging |
Het |
| Cdx2 |
T |
C |
5: 147,238,833 (GRCm39) |
Q252R |
possibly damaging |
Het |
| Cps1 |
A |
T |
1: 67,196,923 (GRCm39) |
I325F |
probably benign |
Het |
| Dctn1 |
G |
A |
6: 83,174,931 (GRCm39) |
|
probably null |
Het |
| Dcun1d3 |
T |
C |
7: 119,457,256 (GRCm39) |
K152R |
probably benign |
Het |
| Dhx35 |
G |
A |
2: 158,673,705 (GRCm39) |
V379M |
probably damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,330,807 (GRCm39) |
E224G |
possibly damaging |
Het |
| Flt1 |
G |
T |
5: 147,571,293 (GRCm39) |
Y671* |
probably null |
Het |
| Fndc3b |
T |
C |
3: 27,515,922 (GRCm39) |
Y628C |
probably damaging |
Het |
| Foxj3 |
A |
T |
4: 119,443,008 (GRCm39) |
D144V |
probably damaging |
Het |
| Gp2 |
A |
G |
7: 119,048,331 (GRCm39) |
V429A |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,178,690 (GRCm39) |
I1095N |
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,599,066 (GRCm39) |
F571S |
probably damaging |
Het |
| Kcnq1 |
C |
A |
7: 142,702,493 (GRCm39) |
|
probably benign |
Het |
| Letm2 |
A |
C |
8: 26,077,341 (GRCm39) |
S250A |
possibly damaging |
Het |
| Llgl1 |
T |
C |
11: 60,600,286 (GRCm39) |
V545A |
probably benign |
Het |
| Lrfn3 |
T |
C |
7: 30,059,031 (GRCm39) |
D398G |
probably benign |
Het |
| Lrig1 |
G |
T |
6: 94,676,520 (GRCm39) |
C49* |
probably null |
Het |
| Mug1 |
A |
G |
6: 121,855,452 (GRCm39) |
I929V |
probably benign |
Het |
| Naaa |
G |
A |
5: 92,411,314 (GRCm39) |
T291I |
probably damaging |
Het |
| Ndufaf1 |
G |
A |
2: 119,490,521 (GRCm39) |
Q180* |
probably null |
Het |
| Nr3c1 |
A |
T |
18: 39,548,752 (GRCm39) |
H741Q |
probably damaging |
Het |
| Nsun5 |
T |
C |
5: 135,400,204 (GRCm39) |
L109P |
probably damaging |
Het |
| Pacsin3 |
A |
G |
2: 91,090,605 (GRCm39) |
E18G |
probably damaging |
Het |
| Rpgr |
G |
A |
X: 10,032,511 (GRCm39) |
P857L |
probably benign |
Het |
| Siglec1 |
G |
A |
2: 130,916,188 (GRCm39) |
T1254M |
probably benign |
Het |
| Slc35a4 |
A |
T |
18: 36,815,394 (GRCm39) |
T75S |
probably benign |
Het |
| Slc52a2 |
T |
C |
15: 76,425,274 (GRCm39) |
I434T |
probably benign |
Het |
| Slco2a1 |
C |
T |
9: 102,927,455 (GRCm39) |
T116I |
probably damaging |
Het |
| Snrpd2 |
T |
C |
7: 18,886,538 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
T |
A |
10: 55,964,489 (GRCm39) |
L903F |
probably damaging |
Het |
| Tex10 |
G |
T |
4: 48,460,046 (GRCm39) |
T435K |
probably damaging |
Het |
| Tmem266 |
T |
C |
9: 55,288,120 (GRCm39) |
S66P |
probably damaging |
Het |
| Top2b |
A |
T |
14: 16,400,106 (GRCm38) |
E581D |
possibly damaging |
Het |
| Uggt1 |
A |
T |
1: 36,200,852 (GRCm39) |
|
probably null |
Het |
| Wdr47 |
T |
A |
3: 108,540,472 (GRCm39) |
Y622* |
probably null |
Het |
| Zfp644 |
A |
T |
5: 106,784,989 (GRCm39) |
H519Q |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 94,918,528 (GRCm39) |
M415V |
possibly 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 |
|
R6590:Ccdc7b
|
UTSW |
8 |
129,904,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6599:Ccdc7b
|
UTSW |
8 |
129,893,462 (GRCm39) |
missense |
probably benign |
|
|
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'- AGGCTTACTGAATTCATCACCTAAG -3'
(R):5'- GAGAGCAGTCTATAGGCTTCATC -3'
Sequencing Primer
(F):5'- TGAATTCATCACCTAAGCCAAAAG -3'
(R):5'- AGTCTATAGGCTTCATCCCATTTTC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation