Incidental Mutation 'IGL02932:Cep44'
| ID |
364135 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep44
|
| Ensembl Gene |
ENSMUSG00000038215 |
| Gene Name |
centrosomal protein 44 |
| Synonyms |
4933440G23Rik, BC088983 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.803)
|
| Stock # |
IGL02932
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
56984557-57004082 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57000459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 18
(R18Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040218]
[ENSMUST00000040330]
[ENSMUST00000110322]
[ENSMUST00000130930]
[ENSMUST00000140107]
[ENSMUST00000135337]
[ENSMUST00000134162]
[ENSMUST00000210863]
|
| AlphaFold |
Q5HZK1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040218
|
| SMART Domains |
Protein: ENSMUSP00000037544
Gene: ENSMUSG00000038206
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-box-like
|
71 |
114 |
1.3e-8 |
PFAM |
|
Sec7
|
132 |
316 |
2.52e-70 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040330
AA Change: R18Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042586
Gene: ENSMUSG00000038215
AA Change: R18Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CEP44
|
5 |
131 |
2.5e-52 |
PFAM |
|
coiled coil region
|
232 |
263 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110322
|
| SMART Domains |
Protein: ENSMUSP00000105951
Gene: ENSMUSG00000038206
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-box-like
|
71 |
114 |
1.2e-9 |
PFAM |
|
Blast:Sec7
|
132 |
159 |
8e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123493
|
| SMART Domains |
Protein: ENSMUSP00000116884
Gene: ENSMUSG00000038215
| 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 damaging
Transcript: ENSMUST00000130930
AA Change: R18Q
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118959
Gene: ENSMUSG00000038215
AA Change: R18Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CEP44
|
5 |
63 |
3.2e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140107
AA Change: R18Q
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114502
Gene: ENSMUSG00000038215
AA Change: R18Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CEP44
|
5 |
136 |
1.7e-53 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135337
AA Change: R18Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122835
Gene: ENSMUSG00000038215
AA Change: R18Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CEP44
|
5 |
80 |
1e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134162
AA Change: R18Q
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117526
Gene: ENSMUSG00000038215
AA Change: R18Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CEP44
|
5 |
102 |
9.1e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156840
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210863
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap42 |
T |
A |
9: 9,115,709 (GRCm39) |
E122D |
probably damaging |
Het |
| Asb3 |
G |
A |
11: 30,979,067 (GRCm39) |
|
probably null |
Het |
| Avl9 |
T |
C |
6: 56,713,536 (GRCm39) |
S265P |
probably benign |
Het |
| Clec10a |
T |
C |
11: 70,060,554 (GRCm39) |
|
probably benign |
Het |
| Cog4 |
A |
G |
8: 111,579,065 (GRCm39) |
I115V |
probably benign |
Het |
| Coq3 |
C |
T |
4: 21,900,430 (GRCm39) |
A219V |
probably benign |
Het |
| Cry2 |
G |
A |
2: 92,243,462 (GRCm39) |
R460* |
probably null |
Het |
| Ddx39b |
A |
G |
17: 35,472,337 (GRCm39) |
|
probably benign |
Het |
| Dhx40 |
G |
A |
11: 86,662,755 (GRCm39) |
R646C |
probably damaging |
Het |
| Ears2 |
G |
A |
7: 121,662,284 (GRCm39) |
R55C |
probably damaging |
Het |
| Eif3m |
C |
T |
2: 104,845,214 (GRCm39) |
G26R |
probably damaging |
Het |
| Exo5 |
A |
G |
4: 120,779,742 (GRCm39) |
L41P |
probably benign |
Het |
| Fut10 |
A |
G |
8: 31,749,965 (GRCm39) |
H417R |
probably damaging |
Het |
| Gars1 |
T |
A |
6: 55,037,929 (GRCm39) |
L296Q |
probably damaging |
Het |
| Gpr143 |
A |
T |
X: 151,576,439 (GRCm39) |
|
probably benign |
Het |
| Htr1b |
C |
A |
9: 81,513,689 (GRCm39) |
R306L |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,661,858 (GRCm39) |
A2185T |
probably damaging |
Het |
| Mbd5 |
C |
A |
2: 49,169,460 (GRCm39) |
Q1544K |
possibly damaging |
Het |
| Mccc1 |
T |
C |
3: 36,014,178 (GRCm39) |
E713G |
possibly damaging |
Het |
| Mttp |
A |
G |
3: 137,817,505 (GRCm39) |
F415S |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,864,386 (GRCm39) |
T1428A |
probably benign |
Het |
| Mup6 |
A |
C |
4: 60,006,009 (GRCm39) |
D159A |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,037,472 (GRCm39) |
L698P |
probably damaging |
Het |
| Or2w6 |
A |
T |
13: 21,843,001 (GRCm39) |
M164K |
probably damaging |
Het |
| Or4p22 |
G |
T |
2: 88,317,519 (GRCm39) |
V148F |
probably benign |
Het |
| Or5p70 |
A |
G |
7: 107,994,720 (GRCm39) |
N131S |
probably benign |
Het |
| Or6c217 |
A |
T |
10: 129,738,287 (GRCm39) |
C97* |
probably null |
Het |
| Osgepl1 |
G |
A |
1: 53,360,675 (GRCm39) |
R372H |
probably benign |
Het |
| Pias2 |
C |
T |
18: 77,232,799 (GRCm39) |
H537Y |
probably damaging |
Het |
| Slc38a7 |
A |
C |
8: 96,572,783 (GRCm39) |
I149M |
probably damaging |
Het |
| Smn1 |
A |
G |
13: 100,264,472 (GRCm39) |
T68A |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,707,231 (GRCm39) |
K657R |
possibly damaging |
Het |
| Tdrd5 |
A |
T |
1: 156,098,190 (GRCm39) |
H625Q |
possibly damaging |
Het |
| Tead3 |
T |
C |
17: 28,560,325 (GRCm39) |
Y2C |
probably damaging |
Het |
| Tmem255a |
T |
A |
X: 37,296,940 (GRCm39) |
T280S |
probably benign |
Het |
| Ttpa |
A |
G |
4: 20,021,215 (GRCm39) |
T128A |
possibly damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,509,591 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R4114:Cep44
|
UTSW |
8 |
56,998,457 (GRCm39) |
missense |
probably benign |
0.25 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation