Incidental Mutation 'IGL01737:Ccdc92'
| ID |
105728 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc92
|
| Ensembl Gene |
ENSMUSG00000037979 |
| Gene Name |
coiled-coil domain containing 92 |
| Synonyms |
D5Bwg0834e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
IGL01737
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
124911482-124939261 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124912920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 203
(E203G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036206]
[ENSMUST00000058440]
[ENSMUST00000135495]
[ENSMUST00000141137]
[ENSMUST00000143268]
|
| AlphaFold |
Q8VDN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036206
AA Change: E203G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038075
Gene: ENSMUSG00000037979
AA Change: E203G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC92
|
7 |
63 |
1.5e-25 |
PFAM |
|
low complexity region
|
72 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058440
|
| SMART Domains |
Protein: ENSMUSP00000062995
Gene: ENSMUSG00000038011
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
86 |
N/A |
INTRINSIC |
|
coiled coil region
|
260 |
282 |
N/A |
INTRINSIC |
|
Pfam:DHC_N1
|
305 |
878 |
9.1e-154 |
PFAM |
|
coiled coil region
|
1191 |
1218 |
N/A |
INTRINSIC |
|
coiled coil region
|
1337 |
1360 |
N/A |
INTRINSIC |
|
Pfam:DHC_N2
|
1374 |
1782 |
1.7e-142 |
PFAM |
|
AAA
|
1946 |
2082 |
2.51e-1 |
SMART |
|
AAA
|
2225 |
2373 |
6.91e-1 |
SMART |
|
low complexity region
|
2444 |
2464 |
N/A |
INTRINSIC |
|
AAA
|
2567 |
2720 |
2.29e-2 |
SMART |
|
Pfam:AAA_8
|
2886 |
3153 |
9.8e-87 |
PFAM |
|
Pfam:MT
|
3165 |
3502 |
9.1e-53 |
PFAM |
|
Pfam:AAA_9
|
3522 |
3747 |
2.3e-90 |
PFAM |
|
Pfam:Dynein_heavy
|
3884 |
4588 |
7.6e-240 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135495
|
| SMART Domains |
Protein: ENSMUSP00000119438
Gene: ENSMUSG00000037979
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC92
|
6 |
59 |
2.9e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141137
|
| SMART Domains |
Protein: ENSMUSP00000114593
Gene: ENSMUSG00000038011
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
86 |
N/A |
INTRINSIC |
|
coiled coil region
|
260 |
282 |
N/A |
INTRINSIC |
|
Pfam:DHC_N1
|
304 |
607 |
4.3e-57 |
PFAM |
|
Pfam:DHC_N1
|
598 |
823 |
1.2e-39 |
PFAM |
|
coiled coil region
|
1134 |
1161 |
N/A |
INTRINSIC |
|
coiled coil region
|
1280 |
1303 |
N/A |
INTRINSIC |
|
Pfam:DHC_N2
|
1315 |
1727 |
7.3e-135 |
PFAM |
|
AAA
|
1889 |
2025 |
4e-3 |
SMART |
|
AAA
|
2168 |
2316 |
1.1e-2 |
SMART |
|
low complexity region
|
2387 |
2407 |
N/A |
INTRINSIC |
|
AAA
|
2510 |
2663 |
3.6e-4 |
SMART |
|
Pfam:AAA_8
|
2829 |
3096 |
2.5e-83 |
PFAM |
|
Pfam:MT
|
3108 |
3445 |
1.2e-50 |
PFAM |
|
Pfam:AAA_9
|
3461 |
3691 |
6.7e-59 |
PFAM |
|
Pfam:Dynein_heavy
|
3821 |
4532 |
1.9e-231 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143268
|
| SMART Domains |
Protein: ENSMUSP00000114983
Gene: ENSMUSG00000037979
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC92
|
6 |
66 |
2.3e-25 |
PFAM |
|
low complexity region
|
72 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196708
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
A |
G |
13: 104,526,643 (GRCm39) |
I524V |
probably damaging |
Het |
| Atxn2 |
T |
A |
5: 121,935,407 (GRCm39) |
M336K |
probably damaging |
Het |
| Bcr |
T |
A |
10: 74,990,783 (GRCm39) |
F763Y |
probably damaging |
Het |
| Bdnf |
A |
G |
2: 109,554,100 (GRCm39) |
Y158C |
probably damaging |
Het |
| Cyp2j12 |
T |
C |
4: 96,010,895 (GRCm39) |
*72W |
probably null |
Het |
| Def6 |
G |
T |
17: 28,442,701 (GRCm39) |
R288L |
possibly damaging |
Het |
| Foxn1 |
T |
G |
11: 78,251,732 (GRCm39) |
S500R |
possibly damaging |
Het |
| Gss |
T |
C |
2: 155,409,726 (GRCm39) |
K77E |
probably damaging |
Het |
| Habp2 |
G |
A |
19: 56,304,739 (GRCm39) |
G410D |
probably benign |
Het |
| Krt36 |
A |
T |
11: 99,994,946 (GRCm39) |
C209S |
possibly damaging |
Het |
| Mmrn1 |
T |
C |
6: 60,954,145 (GRCm39) |
F809L |
probably benign |
Het |
| Mptx2 |
C |
A |
1: 173,102,408 (GRCm39) |
V94F |
probably damaging |
Het |
| Myh4 |
G |
T |
11: 67,134,245 (GRCm39) |
|
probably benign |
Het |
| N4bp2l1 |
G |
T |
5: 150,517,781 (GRCm39) |
H41N |
possibly damaging |
Het |
| Ndnf |
T |
A |
6: 65,680,539 (GRCm39) |
S273T |
probably benign |
Het |
| Nt5c1b |
A |
T |
12: 10,440,108 (GRCm39) |
Y624F |
possibly damaging |
Het |
| Prss8 |
C |
T |
7: 127,525,752 (GRCm39) |
V256M |
probably damaging |
Het |
| Ramp1 |
T |
C |
1: 91,150,821 (GRCm39) |
|
probably benign |
Het |
| Sf3b2 |
A |
G |
19: 5,329,866 (GRCm39) |
|
probably benign |
Het |
| Tfdp2 |
G |
A |
9: 96,182,465 (GRCm39) |
R235Q |
possibly damaging |
Het |
| Tle1 |
C |
T |
4: 72,116,058 (GRCm39) |
|
probably benign |
Het |
| Tmprss11e |
A |
G |
5: 86,867,593 (GRCm39) |
V159A |
probably damaging |
Het |
| Trim12c |
A |
G |
7: 103,997,269 (GRCm39) |
C96R |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,244,931 (GRCm39) |
D1256G |
probably benign |
Het |
|
| Other mutations in Ccdc92 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03057:Ccdc92
|
APN |
5 |
124,912,753 (GRCm39) |
nonsense |
probably null |
|
|
IGL03185:Ccdc92
|
APN |
5 |
124,913,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0801:Ccdc92
|
UTSW |
5 |
124,913,335 (GRCm39) |
missense |
probably benign |
|
|
R1485:Ccdc92
|
UTSW |
5 |
124,913,335 (GRCm39) |
missense |
probably benign |
|
|
R1828:Ccdc92
|
UTSW |
5 |
124,913,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4497:Ccdc92
|
UTSW |
5 |
124,913,337 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5105:Ccdc92
|
UTSW |
5 |
124,912,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8014:Ccdc92
|
UTSW |
5 |
124,913,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Ccdc92
|
UTSW |
5 |
124,912,705 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2014-01-21 |
Incidental Mutation