Incidental Mutation 'R5017:Cep44'
| ID |
385618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep44
|
| Ensembl Gene |
ENSMUSG00000038215 |
| Gene Name |
centrosomal protein 44 |
| Synonyms |
4933440G23Rik, BC088983 |
| MMRRC Submission |
042608-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.803)
|
| Stock # |
R5017 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
56984557-57004082 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56997242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 99
(S99P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040330]
[ENSMUST00000130930]
[ENSMUST00000134162]
[ENSMUST00000135337]
[ENSMUST00000140107]
|
| AlphaFold |
Q5HZK1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040330
AA Change: S99P
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042586
Gene: ENSMUSG00000038215
AA Change: S99P
| 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: S40P
|
| SMART Domains |
Protein: ENSMUSP00000116884
Gene: ENSMUSG00000038215
AA Change: S40P
| 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: 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 |
possibly damaging
Transcript: ENSMUST00000134162
AA Change: S99P
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117526
Gene: ENSMUSG00000038215
AA Change: S99P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CEP44
|
5 |
102 |
9.1e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135337
|
| SMART Domains |
Protein: ENSMUSP00000122835
Gene: ENSMUSG00000038215
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CEP44
|
5 |
80 |
1e-28 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140107
AA Change: S99P
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114502
Gene: ENSMUSG00000038215
AA Change: S99P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CEP44
|
5 |
136 |
1.7e-53 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.1%
- 3x: 97.0%
- 10x: 94.3%
- 20x: 87.9%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
T |
C |
14: 68,810,694 (GRCm39) |
D154G |
probably benign |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| Arhgef3 |
G |
T |
14: 26,987,487 (GRCm39) |
R20L |
possibly damaging |
Het |
| Birc2 |
A |
T |
9: 7,818,886 (GRCm39) |
C568* |
probably null |
Het |
| Bltp3a |
T |
A |
17: 28,113,713 (GRCm39) |
L1295* |
probably null |
Het |
| Clstn2 |
A |
G |
9: 97,365,139 (GRCm39) |
W456R |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,970,604 (GRCm39) |
S783T |
probably benign |
Het |
| Endod1 |
G |
A |
9: 14,268,187 (GRCm39) |
R433* |
probably null |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gdpd4 |
C |
A |
7: 97,653,482 (GRCm39) |
Y498* |
probably null |
Het |
| Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
| Hapln2 |
A |
G |
3: 87,931,308 (GRCm39) |
V69A |
probably damaging |
Het |
| Ifit3 |
A |
C |
19: 34,564,592 (GRCm39) |
N46T |
possibly damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,200,958 (GRCm39) |
L464S |
probably damaging |
Het |
| Lrrc9 |
C |
A |
12: 72,553,099 (GRCm39) |
R1334S |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,345,906 (GRCm39) |
F2631L |
probably damaging |
Het |
| Mafa |
T |
C |
15: 75,619,338 (GRCm39) |
H145R |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,226,795 (GRCm39) |
T1411A |
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,571,717 (GRCm39) |
|
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,807,484 (GRCm39) |
|
probably benign |
Het |
| Or10g6 |
A |
T |
9: 39,933,672 (GRCm39) |
|
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,622,821 (GRCm39) |
Y251* |
probably null |
Het |
| Or8g20 |
A |
T |
9: 39,396,051 (GRCm39) |
M166K |
possibly damaging |
Het |
| Pde11a |
A |
T |
2: 75,966,711 (GRCm39) |
D579E |
probably benign |
Het |
| Phkb |
A |
T |
8: 86,776,438 (GRCm39) |
H954L |
probably benign |
Het |
| Phldb3 |
C |
T |
7: 24,319,521 (GRCm39) |
T353M |
probably damaging |
Het |
| Pigu |
A |
T |
2: 155,141,128 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
A |
G |
2: 60,353,104 (GRCm39) |
|
probably null |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
C |
A |
18: 78,899,809 (GRCm39) |
G1286V |
possibly damaging |
Het |
| Siglecg |
T |
A |
7: 43,060,810 (GRCm39) |
|
probably benign |
Het |
| Slc25a46 |
A |
T |
18: 31,738,836 (GRCm39) |
H118Q |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,132,510 (GRCm39) |
F167I |
unknown |
Het |
| Sycp1 |
A |
T |
3: 102,803,303 (GRCm39) |
|
probably null |
Het |
| Tmem132c |
A |
G |
5: 127,640,414 (GRCm39) |
T862A |
probably benign |
Het |
| Tmem256 |
T |
C |
11: 69,729,818 (GRCm39) |
|
probably benign |
Het |
| Tpr |
A |
T |
1: 150,274,388 (GRCm39) |
E98D |
probably benign |
Het |
| Trdn |
A |
G |
10: 33,344,155 (GRCm39) |
D623G |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,812,879 (GRCm39) |
N1485S |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,894,580 (GRCm39) |
|
probably benign |
Het |
| Vmn1r227 |
T |
C |
17: 20,956,340 (GRCm39) |
|
noncoding transcript |
Het |
| Xpo6 |
G |
A |
7: 125,703,919 (GRCm39) |
A21V |
probably benign |
Het |
| Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
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 |
|
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 |
|
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'- TTCTGCGTCGATTGACCATG -3'
(R):5'- CCTGAGCATAATTCAACGCC -3'
Sequencing Primer
(F):5'- GACCATGCGCTTTTAAATAATTTGC -3'
(R):5'- AACGCCAACTCTATACTTTTAGTACC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation