Incidental Mutation 'R4114:Cep44'
ID |
314553 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep44
|
Ensembl Gene |
ENSMUSG00000038215 |
Gene Name |
centrosomal protein 44 |
Synonyms |
4933440G23Rik, BC088983 |
MMRRC Submission |
040990-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.803)
|
Stock # |
R4114 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
56984557-57004082 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56998457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 74
(T74A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042586
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040330]
[ENSMUST00000130930]
[ENSMUST00000134162]
[ENSMUST00000135337]
[ENSMUST00000140107]
|
AlphaFold |
Q5HZK1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040330
AA Change: T74A
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000042586 Gene: ENSMUSG00000038215 AA Change: T74A
Domain | Start | End | E-Value | Type |
Pfam:CEP44
|
5 |
131 |
2.5e-52 |
PFAM |
coiled coil region
|
232 |
263 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000123493
AA Change: T15A
|
SMART Domains |
Protein: ENSMUSP00000116884 Gene: ENSMUSG00000038215 AA Change: T15A
Domain | Start | End | E-Value | Type |
Pfam:CEP44
|
1 |
73 |
3.3e-31 |
PFAM |
coiled coil region
|
173 |
204 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126830
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127877
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130930
|
SMART Domains |
Protein: ENSMUSP00000118959 Gene: ENSMUSG00000038215
Domain | Start | End | E-Value | Type |
Pfam:CEP44
|
5 |
63 |
3.2e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134162
AA Change: T74A
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000117526 Gene: ENSMUSG00000038215 AA Change: T74A
Domain | Start | End | E-Value | Type |
Pfam:CEP44
|
5 |
102 |
9.1e-42 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135337
AA Change: T74A
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000122835 Gene: ENSMUSG00000038215 AA Change: T74A
Domain | Start | End | E-Value | Type |
Pfam:CEP44
|
5 |
80 |
1e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140107
AA Change: T74A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000114502 Gene: ENSMUSG00000038215 AA Change: T74A
Domain | Start | End | E-Value | Type |
Pfam:CEP44
|
5 |
136 |
1.7e-53 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030468B19Rik |
T |
G |
11: 117,693,793 (GRCm39) |
S87A |
probably damaging |
Het |
Abca16 |
T |
C |
7: 120,126,290 (GRCm39) |
F1149L |
probably benign |
Het |
Abcf1 |
A |
T |
17: 36,270,146 (GRCm39) |
D637E |
probably benign |
Het |
Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,256,819 (GRCm39) |
|
probably null |
Het |
Colq |
T |
A |
14: 31,279,824 (GRCm39) |
M1L |
probably benign |
Het |
Cym |
A |
T |
3: 107,127,065 (GRCm39) |
L30Q |
probably damaging |
Het |
Dpp6 |
T |
A |
5: 27,674,485 (GRCm39) |
|
probably null |
Het |
Gbe1 |
G |
T |
16: 70,280,715 (GRCm39) |
G372V |
possibly damaging |
Het |
Hdc |
T |
A |
2: 126,443,738 (GRCm39) |
M314L |
probably benign |
Het |
Ino80b |
A |
G |
6: 83,101,121 (GRCm39) |
S149P |
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
Mpped1 |
A |
G |
15: 83,680,910 (GRCm39) |
|
probably benign |
Het |
Nek5 |
G |
A |
8: 22,601,178 (GRCm39) |
T181M |
probably damaging |
Het |
Nlrp4a |
T |
G |
7: 26,149,365 (GRCm39) |
F324C |
probably damaging |
Het |
Nop56 |
T |
C |
2: 130,118,593 (GRCm39) |
|
probably null |
Het |
Or6c6c |
T |
C |
10: 129,541,668 (GRCm39) |
L307S |
probably benign |
Het |
Or8u9 |
A |
T |
2: 86,001,759 (GRCm39) |
V134D |
possibly damaging |
Het |
Pcdhb3 |
A |
G |
18: 37,435,093 (GRCm39) |
N353S |
probably benign |
Het |
Pde8a |
T |
A |
7: 80,932,555 (GRCm39) |
|
probably null |
Het |
Pramel29 |
A |
T |
4: 143,936,173 (GRCm39) |
L29H |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,707,568 (GRCm39) |
R2823H |
probably damaging |
Het |
Scart2 |
T |
C |
7: 139,877,823 (GRCm39) |
V935A |
probably damaging |
Het |
Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
Slc7a1 |
T |
C |
5: 148,278,867 (GRCm39) |
T302A |
probably damaging |
Het |
Sult2a2 |
A |
T |
7: 13,468,708 (GRCm39) |
Q58L |
probably benign |
Het |
Tek |
T |
C |
4: 94,737,920 (GRCm39) |
S657P |
probably damaging |
Het |
Trim5 |
A |
G |
7: 103,914,947 (GRCm39) |
L374P |
probably damaging |
Het |
Tspan18 |
C |
A |
2: 93,142,291 (GRCm39) |
|
probably null |
Het |
Vmn2r37 |
T |
A |
7: 9,213,092 (GRCm39) |
|
probably null |
Het |
Zbbx |
T |
C |
3: 75,046,905 (GRCm39) |
T121A |
probably benign |
Het |
Zfp35 |
A |
C |
18: 24,135,766 (GRCm39) |
I37L |
probably benign |
Het |
|
Other mutations in Cep44 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00545:Cep44
|
APN |
8 |
57,000,435 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02932:Cep44
|
APN |
8 |
57,000,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R0347:Cep44
|
UTSW |
8 |
56,998,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R0609:Cep44
|
UTSW |
8 |
56,997,187 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0669:Cep44
|
UTSW |
8 |
56,994,008 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1449:Cep44
|
UTSW |
8 |
56,993,985 (GRCm39) |
missense |
probably benign |
0.01 |
R1493:Cep44
|
UTSW |
8 |
56,985,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R4422:Cep44
|
UTSW |
8 |
56,991,652 (GRCm39) |
missense |
probably benign |
0.00 |
R4423:Cep44
|
UTSW |
8 |
56,991,652 (GRCm39) |
missense |
probably benign |
0.00 |
R4425:Cep44
|
UTSW |
8 |
56,991,652 (GRCm39) |
missense |
probably benign |
0.00 |
R4621:Cep44
|
UTSW |
8 |
56,995,951 (GRCm39) |
missense |
probably damaging |
0.99 |
R5017:Cep44
|
UTSW |
8 |
56,997,242 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5190:Cep44
|
UTSW |
8 |
56,985,831 (GRCm39) |
missense |
probably benign |
0.05 |
R5898:Cep44
|
UTSW |
8 |
56,994,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R5938:Cep44
|
UTSW |
8 |
57,000,457 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6080:Cep44
|
UTSW |
8 |
56,992,876 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6150:Cep44
|
UTSW |
8 |
56,992,840 (GRCm39) |
missense |
probably benign |
0.39 |
R7016:Cep44
|
UTSW |
8 |
56,997,234 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7141:Cep44
|
UTSW |
8 |
56,992,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R7466:Cep44
|
UTSW |
8 |
56,994,018 (GRCm39) |
frame shift |
probably null |
|
R7753:Cep44
|
UTSW |
8 |
56,985,842 (GRCm39) |
missense |
probably benign |
0.16 |
R7841:Cep44
|
UTSW |
8 |
56,994,018 (GRCm39) |
frame shift |
probably null |
|
Z1176:Cep44
|
UTSW |
8 |
56,997,163 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACACGCTGATATTTCCCAAC -3'
(R):5'- ACCAAGTTATTGACAACACTGCTAG -3'
Sequencing Primer
(F):5'- TGATATTTCCCAACGATAAAACTGCC -3'
(R):5'- GCTAGTTATCCTTAATCACCCAGG -3'
|
Posted On |
2015-05-14 |