Incidental Mutation 'R0100:Ccdc51'
| ID |
64131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc51
|
| Ensembl Gene |
ENSMUSG00000025645 |
| Gene Name |
coiled-coil domain containing 51 |
| Synonyms |
Mitok, 5730568A12Rik |
| MMRRC Submission |
038386-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.452)
|
| Stock # |
R0100 (G1)
|
| Quality Score |
154 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108911561-108921557 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 108921066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 318
(Q318*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026735]
[ENSMUST00000072093]
[ENSMUST00000130366]
[ENSMUST00000131462]
|
| AlphaFold |
Q3URS9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026735
AA Change: Q318*
|
| SMART Domains |
Protein: ENSMUSP00000026735
Gene: ENSMUSG00000025645
AA Change: Q318*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
109 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
286 |
N/A |
INTRINSIC |
|
transmembrane domain
|
381 |
403 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072093
|
| SMART Domains |
Protein: ENSMUSP00000071966
Gene: ENSMUSG00000053646
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Sema
|
35 |
463 |
5.84e-101 |
SMART |
|
PSI
|
481 |
534 |
1.17e-13 |
SMART |
|
PSI
|
628 |
678 |
6.97e-3 |
SMART |
|
low complexity region
|
691 |
706 |
N/A |
INTRINSIC |
|
low complexity region
|
752 |
771 |
N/A |
INTRINSIC |
|
PSI
|
1019 |
1066 |
2.06e-5 |
SMART |
|
IPT
|
1067 |
1158 |
7.48e-18 |
SMART |
|
IPT
|
1159 |
1247 |
3.97e-22 |
SMART |
|
IPT
|
1249 |
1359 |
6.09e-9 |
SMART |
|
low complexity region
|
1483 |
1494 |
N/A |
INTRINSIC |
|
Pfam:Plexin_cytopl
|
1546 |
2086 |
6.5e-230 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130366
|
| SMART Domains |
Protein: ENSMUSP00000114358
Gene: ENSMUSG00000053646
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Sema
|
35 |
138 |
7.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131462
|
| SMART Domains |
Protein: ENSMUSP00000115265
Gene: ENSMUSG00000053646
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Sema
|
35 |
138 |
7.5e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134690
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,259,415 (GRCm39) |
C814R |
probably damaging |
Het |
| Bbof1 |
T |
A |
12: 84,457,829 (GRCm39) |
D31E |
probably benign |
Het |
| Cpxm2 |
T |
A |
7: 131,656,600 (GRCm39) |
H554L |
possibly damaging |
Het |
| Dbr1 |
T |
A |
9: 99,465,722 (GRCm39) |
D433E |
probably benign |
Het |
| Ddx55 |
C |
T |
5: 124,694,845 (GRCm39) |
T91I |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,582,585 (GRCm39) |
D340G |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,984,109 (GRCm39) |
|
probably null |
Het |
| Dpp9 |
C |
T |
17: 56,512,854 (GRCm39) |
G118D |
possibly damaging |
Het |
| Fam81a |
C |
T |
9: 70,010,091 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,034,397 (GRCm39) |
N2683T |
probably damaging |
Het |
| Fbxo47 |
C |
T |
11: 97,759,432 (GRCm39) |
G165S |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,953,436 (GRCm39) |
I442T |
possibly damaging |
Het |
| Gpatch2 |
C |
A |
1: 186,958,014 (GRCm39) |
A123E |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,730,225 (GRCm39) |
Q1734L |
probably benign |
Het |
| Gtf2ird2 |
T |
C |
5: 134,245,857 (GRCm39) |
L705P |
probably damaging |
Het |
| H13 |
T |
A |
2: 152,531,783 (GRCm39) |
|
probably null |
Het |
| Hip1 |
T |
C |
5: 135,465,307 (GRCm39) |
D367G |
probably benign |
Het |
| Ift140 |
C |
T |
17: 25,309,928 (GRCm39) |
Q1112* |
probably null |
Het |
| Il17b |
A |
G |
18: 61,823,342 (GRCm39) |
M59V |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,747,260 (GRCm39) |
Y829H |
probably damaging |
Het |
| Mocs3 |
C |
T |
2: 168,073,110 (GRCm39) |
R186C |
probably damaging |
Het |
| Or10al5 |
T |
C |
17: 38,063,594 (GRCm39) |
F283S |
probably benign |
Het |
| Or2bd2 |
C |
T |
7: 6,443,399 (GRCm39) |
R167C |
probably damaging |
Het |
| Or4c120 |
T |
A |
2: 89,001,431 (GRCm39) |
I42F |
probably benign |
Het |
| Or5be3 |
T |
C |
2: 86,863,939 (GRCm39) |
T209A |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,362,372 (GRCm39) |
I405V |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,091,105 (GRCm39) |
S360P |
probably benign |
Het |
| Plekhs1 |
A |
G |
19: 56,466,934 (GRCm39) |
E255G |
probably damaging |
Het |
| Tex22 |
T |
A |
12: 113,052,392 (GRCm39) |
I150N |
probably benign |
Het |
| Tmem106a |
T |
C |
11: 101,477,084 (GRCm39) |
S98P |
probably benign |
Het |
| Tnfrsf18 |
A |
G |
4: 156,112,823 (GRCm39) |
T170A |
probably benign |
Het |
| Trpc6 |
C |
T |
9: 8,653,035 (GRCm39) |
P614S |
probably damaging |
Het |
| Usp28 |
C |
A |
9: 48,947,232 (GRCm39) |
P566Q |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,947 (GRCm39) |
F811L |
possibly damaging |
Het |
|
| Other mutations in Ccdc51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02558:Ccdc51
|
APN |
9 |
108,921,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02615:Ccdc51
|
APN |
9 |
108,918,503 (GRCm39) |
missense |
probably benign |
|
|
IGL02806:Ccdc51
|
APN |
9 |
108,921,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0137:Ccdc51
|
UTSW |
9 |
108,920,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Ccdc51
|
UTSW |
9 |
108,918,441 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0211:Ccdc51
|
UTSW |
9 |
108,918,441 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4540:Ccdc51
|
UTSW |
9 |
108,921,288 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4669:Ccdc51
|
UTSW |
9 |
108,920,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4770:Ccdc51
|
UTSW |
9 |
108,919,978 (GRCm39) |
missense |
probably benign |
|
|
R5364:Ccdc51
|
UTSW |
9 |
108,921,188 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6137:Ccdc51
|
UTSW |
9 |
108,918,483 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7146:Ccdc51
|
UTSW |
9 |
108,920,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7831:Ccdc51
|
UTSW |
9 |
108,921,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7886:Ccdc51
|
UTSW |
9 |
108,920,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9054:Ccdc51
|
UTSW |
9 |
108,918,482 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ccdc51
|
UTSW |
9 |
108,921,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ccdc51
|
UTSW |
9 |
108,921,216 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTACTCCTGGAAGCACAGAAAG -3'
(R):5'- TCTCTGACAGGGCCAAGATCACAC -3'
Sequencing Primer
(F):5'- AGACCTCCAGGACCTTATGATGG -3'
(R):5'- ACTCCCGTGTTCCAGCAAG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation