Incidental Mutation 'IGL02529:Ccdc7b'
| ID |
297216 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc7b
|
| Ensembl Gene |
ENSMUSG00000056018 |
| Gene Name |
coiled-coil domain containing 7B |
| Synonyms |
1700008F21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL02529
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
129793615-129910213 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 129904706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 115
(L115F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026912]
[ENSMUST00000108745]
[ENSMUST00000148234]
|
| AlphaFold |
E9Q9Y3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026912
AA Change: L318F
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026912
Gene: ENSMUSG00000056018
AA Change: L318F
| 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 |
possibly damaging
Transcript: ENSMUST00000108745
AA Change: L115F
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104378
Gene: ENSMUSG00000056018
AA Change: L115F
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,190 (GRCm39) |
H925L |
probably benign |
Het |
| Agpat5 |
T |
A |
8: 18,931,770 (GRCm39) |
Y297N |
possibly damaging |
Het |
| Apobec3 |
C |
T |
15: 79,781,888 (GRCm39) |
|
probably benign |
Het |
| Atpaf1 |
C |
A |
4: 115,648,466 (GRCm39) |
A161E |
probably damaging |
Het |
| Bnc1 |
A |
T |
7: 81,627,116 (GRCm39) |
D91E |
probably damaging |
Het |
| Capg |
G |
A |
6: 72,532,829 (GRCm39) |
V98I |
probably benign |
Het |
| Ces2a |
T |
A |
8: 105,463,851 (GRCm39) |
|
probably benign |
Het |
| Cldn6 |
T |
G |
17: 23,900,291 (GRCm39) |
V85G |
probably damaging |
Het |
| Clec2e |
T |
C |
6: 129,075,459 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,285,645 (GRCm39) |
E396G |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,078,290 (GRCm39) |
K532* |
probably null |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Gmip |
G |
A |
8: 70,269,439 (GRCm39) |
G537E |
probably damaging |
Het |
| Hacd1 |
T |
C |
2: 14,050,013 (GRCm39) |
H64R |
probably damaging |
Het |
| Hdac3 |
G |
T |
18: 38,077,185 (GRCm39) |
Q230K |
probably benign |
Het |
| Htt |
C |
T |
5: 34,976,387 (GRCm39) |
|
probably benign |
Het |
| Il18r1 |
A |
G |
1: 40,526,219 (GRCm39) |
D255G |
possibly damaging |
Het |
| Krt82 |
T |
A |
15: 101,458,831 (GRCm39) |
R70* |
probably null |
Het |
| Krt9 |
G |
T |
11: 100,080,792 (GRCm39) |
H353Q |
probably damaging |
Het |
| Kyat3 |
T |
C |
3: 142,426,235 (GRCm39) |
I57T |
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,658 (GRCm39) |
K618E |
probably benign |
Het |
| Limch1 |
C |
A |
5: 67,159,956 (GRCm39) |
N617K |
possibly damaging |
Het |
| Lsm8 |
T |
C |
6: 18,851,651 (GRCm39) |
F34S |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Mmrn2 |
C |
A |
14: 34,120,570 (GRCm39) |
A480E |
possibly damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,350,483 (GRCm39) |
I474V |
probably benign |
Het |
| Mycl |
A |
G |
4: 122,890,770 (GRCm39) |
K152R |
probably damaging |
Het |
| Numa1 |
A |
G |
7: 101,649,160 (GRCm39) |
|
probably null |
Het |
| Or5p54 |
G |
T |
7: 107,554,423 (GRCm39) |
V192F |
possibly damaging |
Het |
| Otog |
A |
C |
7: 45,909,381 (GRCm39) |
D617A |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,392,596 (GRCm39) |
I267T |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,471,226 (GRCm39) |
Y1392H |
probably benign |
Het |
| Rasgrp3 |
G |
T |
17: 75,832,097 (GRCm39) |
K639N |
possibly damaging |
Het |
| Rgs19 |
C |
T |
2: 181,330,943 (GRCm39) |
R203H |
probably benign |
Het |
| Scnn1g |
C |
A |
7: 121,341,669 (GRCm39) |
|
probably benign |
Het |
| Tmem181b-ps |
T |
C |
17: 6,734,320 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r118 |
A |
G |
17: 55,917,870 (GRCm39) |
V214A |
possibly damaging |
Het |
| Zfp811 |
T |
C |
17: 33,016,789 (GRCm39) |
Y417C |
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 |
|
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation