Incidental Mutation 'R2400:Cep72'
| ID |
248663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep72
|
| Ensembl Gene |
ENSMUSG00000021572 |
| Gene Name |
centrosomal protein 72 |
| Synonyms |
2610029E11Rik, 4933440J22Rik |
| MMRRC Submission |
040366-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R2400 (G1)
|
| Quality Score |
193 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
74184619-74210418 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 74197096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 69
(A69S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036456]
[ENSMUST00000221122]
[ENSMUST00000222609]
|
| AlphaFold |
Q9D3R3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036456
AA Change: A420S
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000037788
Gene: ENSMUSG00000021572
AA Change: A420S
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
52 |
73 |
2.92e1 |
SMART |
|
LRR
|
74 |
96 |
5.34e-1 |
SMART |
|
LRRcap
|
116 |
134 |
1.89e-4 |
SMART |
|
low complexity region
|
307 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
428 |
N/A |
INTRINSIC |
|
coiled coil region
|
485 |
531 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221122
AA Change: A69S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222609
AA Change: A333S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223028
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223417
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 7530416G11Rik |
T |
C |
15: 85,377,566 (GRCm39) |
T133A |
unknown |
Het |
| Adgrl2 |
G |
T |
3: 148,557,570 (GRCm39) |
S519R |
probably damaging |
Het |
| AU041133 |
A |
T |
10: 81,986,742 (GRCm39) |
K132* |
probably null |
Het |
| Bhlhe22 |
A |
G |
3: 18,109,615 (GRCm39) |
N222D |
probably damaging |
Het |
| Csn1s2a |
T |
A |
5: 87,928,014 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,900,030 (GRCm39) |
F872I |
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,567,845 (GRCm39) |
D746G |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 118,017,210 (GRCm39) |
|
probably null |
Het |
| Fgg |
A |
G |
3: 82,915,494 (GRCm39) |
D37G |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,386,941 (GRCm39) |
S958R |
probably benign |
Het |
| Gfpt1 |
A |
G |
6: 87,064,330 (GRCm39) |
D640G |
probably damaging |
Het |
| Golgb1 |
C |
A |
16: 36,738,828 (GRCm39) |
T2389K |
possibly damaging |
Het |
| Hmgcl |
C |
A |
4: 135,679,679 (GRCm39) |
|
probably null |
Het |
| Mmp11 |
T |
A |
10: 75,761,344 (GRCm39) |
T419S |
probably benign |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Nkiras1 |
T |
A |
14: 18,280,011 (GRCm38) |
V108E |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,238,245 (GRCm39) |
L22P |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,334,021 (GRCm39) |
Y3077H |
probably damaging |
Het |
| Sec62 |
A |
G |
3: 30,864,681 (GRCm39) |
N182D |
unknown |
Het |
| Serpinb5 |
A |
G |
1: 106,809,682 (GRCm39) |
T363A |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,036,110 (GRCm39) |
S197T |
probably benign |
Het |
| Vmn2r11 |
T |
A |
5: 109,199,928 (GRCm39) |
E508D |
probably benign |
Het |
| Wdr81 |
A |
G |
11: 75,339,861 (GRCm39) |
F1376L |
probably benign |
Het |
| Zfp260 |
T |
C |
7: 29,804,126 (GRCm39) |
S9P |
possibly damaging |
Het |
|
| Other mutations in Cep72 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Cep72
|
APN |
13 |
74,210,387 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01373:Cep72
|
APN |
13 |
74,207,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02415:Cep72
|
APN |
13 |
74,198,273 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL03372:Cep72
|
APN |
13 |
74,191,637 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0608:Cep72
|
UTSW |
13 |
74,186,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0884:Cep72
|
UTSW |
13 |
74,203,000 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4906:Cep72
|
UTSW |
13 |
74,207,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5534:Cep72
|
UTSW |
13 |
74,210,335 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5567:Cep72
|
UTSW |
13 |
74,188,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5570:Cep72
|
UTSW |
13 |
74,188,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5816:Cep72
|
UTSW |
13 |
74,197,150 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6310:Cep72
|
UTSW |
13 |
74,201,144 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6513:Cep72
|
UTSW |
13 |
74,206,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6848:Cep72
|
UTSW |
13 |
74,186,395 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6936:Cep72
|
UTSW |
13 |
74,188,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Cep72
|
UTSW |
13 |
74,206,444 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7006:Cep72
|
UTSW |
13 |
74,198,427 (GRCm39) |
nonsense |
probably null |
|
|
R7074:Cep72
|
UTSW |
13 |
74,199,699 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7640:Cep72
|
UTSW |
13 |
74,206,607 (GRCm39) |
nonsense |
probably null |
|
|
R7889:Cep72
|
UTSW |
13 |
74,198,241 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8260:Cep72
|
UTSW |
13 |
74,206,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8751:Cep72
|
UTSW |
13 |
74,198,303 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8789:Cep72
|
UTSW |
13 |
74,186,367 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9202:Cep72
|
UTSW |
13 |
74,198,420 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGACAATAATTCACTTCTCTGGAAC -3'
(R):5'- AGCTTCACAGATGGGTGTCTC -3'
Sequencing Primer
(F):5'- ACCCCAGGTTGGATGAACACTG -3'
(R):5'- CACAGATGGGTGTCTCTTGTTCTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation