Incidental Mutation 'R9202:Cep72'
| ID |
698285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep72
|
| Ensembl Gene |
ENSMUSG00000021572 |
| Gene Name |
centrosomal protein 72 |
| Synonyms |
2610029E11Rik, 4933440J22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R9202 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
74184619-74210418 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 74198420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 320
(T320K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036456]
[ENSMUST00000220483]
[ENSMUST00000221122]
[ENSMUST00000222609]
|
| AlphaFold |
Q9D3R3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036456
AA Change: T320K
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000037788
Gene: ENSMUSG00000021572
AA Change: T320K
| 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 benign
Transcript: ENSMUST00000220483
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221122
AA Change: T49K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222609
AA Change: T313K
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223028
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
95% (41/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
A |
T |
3: 127,479,938 (GRCm39) |
I17K |
|
Het |
| Ampd3 |
T |
C |
7: 110,402,346 (GRCm39) |
I441T |
probably damaging |
Het |
| Ankrd31 |
C |
T |
13: 97,015,383 (GRCm39) |
Q1551* |
probably null |
Het |
| Asphd1 |
T |
A |
7: 126,547,934 (GRCm39) |
Y123F |
probably damaging |
Het |
| Atf2 |
A |
G |
2: 73,649,472 (GRCm39) |
S380P |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 36,944,970 (GRCm39) |
S310G |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Ctnna3 |
T |
G |
10: 64,708,947 (GRCm39) |
M662R |
probably damaging |
Het |
| Cyp2r1 |
T |
G |
7: 114,152,047 (GRCm39) |
|
probably benign |
Het |
| Flvcr1 |
T |
A |
1: 190,744,351 (GRCm39) |
Y399F |
probably benign |
Het |
| Gimap8 |
T |
A |
6: 48,633,403 (GRCm39) |
F407L |
probably benign |
Het |
| Insrr |
C |
T |
3: 87,720,427 (GRCm39) |
R1022W |
probably damaging |
Het |
| Ipo4 |
A |
T |
14: 55,868,597 (GRCm39) |
|
probably null |
Het |
| Klhl35 |
A |
G |
7: 99,120,212 (GRCm39) |
N363S |
probably benign |
Het |
| Loxl4 |
T |
C |
19: 42,593,452 (GRCm39) |
T240A |
probably benign |
Het |
| Med23 |
T |
C |
10: 24,780,202 (GRCm39) |
V950A |
probably benign |
Het |
| Nceh1 |
A |
G |
3: 27,333,428 (GRCm39) |
I175V |
probably benign |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Or3a10 |
A |
G |
11: 73,935,441 (GRCm39) |
S220P |
probably damaging |
Het |
| Or5ac24 |
T |
C |
16: 59,165,618 (GRCm39) |
I149V |
probably benign |
Het |
| Or5m5 |
T |
A |
2: 85,814,801 (GRCm39) |
F206I |
probably damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,254,498 (GRCm39) |
D515G |
probably benign |
Het |
| Pafah2 |
T |
C |
4: 134,131,440 (GRCm39) |
S68P |
probably benign |
Het |
| Pcnx2 |
T |
A |
8: 126,616,416 (GRCm39) |
|
probably null |
Het |
| Pde11a |
G |
T |
2: 75,853,077 (GRCm39) |
S847* |
probably null |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Pramel19 |
A |
G |
4: 101,797,860 (GRCm39) |
D86G |
probably damaging |
Het |
| Ptprq |
C |
T |
10: 107,522,416 (GRCm39) |
V546I |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Ripk2 |
C |
A |
4: 16,124,502 (GRCm39) |
G402V |
probably benign |
Het |
| Speg |
T |
C |
1: 75,367,637 (GRCm39) |
S715P |
probably damaging |
Het |
| Ttll12 |
A |
G |
15: 83,466,264 (GRCm39) |
F399S |
probably damaging |
Het |
| Ugt1a2 |
G |
T |
1: 88,128,375 (GRCm39) |
C6F |
probably benign |
Het |
| Vars2 |
T |
C |
17: 35,977,551 (GRCm39) |
Y127C |
probably damaging |
Het |
| Vars2 |
T |
C |
17: 35,974,444 (GRCm39) |
|
probably null |
Het |
| Vmn2r95 |
T |
C |
17: 18,644,394 (GRCm39) |
F10S |
probably benign |
Het |
| Wdr12 |
T |
C |
1: 60,121,205 (GRCm39) |
D371G |
possibly damaging |
Het |
| Wdr89 |
C |
T |
12: 75,679,943 (GRCm39) |
E104K |
probably benign |
Het |
| Zbtb1 |
G |
T |
12: 76,433,784 (GRCm39) |
R590L |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,677,920 (GRCm39) |
D2990G |
possibly damaging |
Het |
| Zfp710 |
G |
A |
7: 79,731,609 (GRCm39) |
G262D |
probably 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 |
|
|
R2400:Cep72
|
UTSW |
13 |
74,197,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAGTGAGACAAGGCCAC -3'
(R):5'- TGTGTCTGTCCATACCCACG -3'
Sequencing Primer
(F):5'- GAGACAAGGCCACCTGACTCTG -3'
(R):5'- GTCCATACCCACGTGTGTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation