Incidental Mutation 'IGL03338:Cep78'
| ID |
417096 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep78
|
| Ensembl Gene |
ENSMUSG00000041491 |
| Gene Name |
centrosomal protein 78 |
| Synonyms |
5730599I05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.766)
|
| Stock # |
IGL03338
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
15933137-15962353 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 15936987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 573
(T573K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047704]
|
| AlphaFold |
Q6IRU7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047704
AA Change: T573K
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000037596
Gene: ENSMUSG00000041491
AA Change: T573K
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
152 |
179 |
2.95e-3 |
SMART |
|
Blast:LRR
|
180 |
207 |
1e-10 |
BLAST |
|
LRR
|
231 |
259 |
6.28e-1 |
SMART |
|
LRR
|
260 |
287 |
8.81e-2 |
SMART |
|
LRR
|
288 |
313 |
1.96e2 |
SMART |
|
low complexity region
|
427 |
450 |
N/A |
INTRINSIC |
|
coiled coil region
|
462 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
688 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,744,153 (GRCm39) |
V260M |
probably damaging |
Het |
| Accsl |
T |
A |
2: 93,686,092 (GRCm39) |
H575L |
probably benign |
Het |
| Armc3 |
A |
T |
2: 19,253,512 (GRCm39) |
I218F |
possibly damaging |
Het |
| Bora |
C |
A |
14: 99,310,178 (GRCm39) |
N502K |
probably damaging |
Het |
| Brd4 |
T |
A |
17: 32,432,046 (GRCm39) |
D606V |
probably damaging |
Het |
| Ccdc190 |
T |
A |
1: 169,757,544 (GRCm39) |
M1K |
probably null |
Het |
| Ccl25 |
T |
C |
8: 4,399,898 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
C |
T |
6: 106,632,550 (GRCm39) |
H525Y |
probably damaging |
Het |
| D630039A03Rik |
T |
C |
4: 57,910,509 (GRCm39) |
E101G |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,387,403 (GRCm39) |
V941A |
probably benign |
Het |
| Exoc6b |
A |
G |
6: 84,821,112 (GRCm39) |
I559T |
probably damaging |
Het |
| Fmr1 |
T |
C |
X: 67,731,942 (GRCm39) |
|
probably null |
Het |
| Ghr |
A |
T |
15: 3,377,024 (GRCm39) |
C66S |
probably damaging |
Het |
| Hook1 |
C |
A |
4: 95,886,929 (GRCm39) |
|
probably benign |
Het |
| Igsf1 |
T |
C |
X: 48,876,376 (GRCm39) |
T73A |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,701,755 (GRCm39) |
K451R |
probably benign |
Het |
| Irs1 |
A |
G |
1: 82,266,122 (GRCm39) |
V698A |
probably benign |
Het |
| Kat2a |
T |
C |
11: 100,602,301 (GRCm39) |
D151G |
probably benign |
Het |
| Lyrm1 |
A |
T |
7: 119,513,469 (GRCm39) |
Q78L |
probably benign |
Het |
| Madd |
C |
T |
2: 90,992,507 (GRCm39) |
G1012E |
possibly damaging |
Het |
| Mboat1 |
T |
A |
13: 30,320,742 (GRCm39) |
D31E |
probably benign |
Het |
| Myh8 |
C |
A |
11: 67,189,172 (GRCm39) |
A1116D |
probably damaging |
Het |
| Nop2 |
G |
A |
6: 125,116,695 (GRCm39) |
|
probably null |
Het |
| Notch1 |
A |
G |
2: 26,349,971 (GRCm39) |
S2390P |
probably benign |
Het |
| Or10ag57 |
T |
G |
2: 87,218,470 (GRCm39) |
N140K |
probably benign |
Het |
| Or52z14 |
T |
A |
7: 103,253,615 (GRCm39) |
C251* |
probably null |
Het |
| Or6c66b |
A |
G |
10: 129,376,925 (GRCm39) |
D173G |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,467,816 (GRCm39) |
S272P |
probably damaging |
Het |
| Plg |
A |
G |
17: 12,637,959 (GRCm39) |
Y795C |
probably damaging |
Het |
| Polr3e |
A |
G |
7: 120,536,843 (GRCm39) |
K335R |
probably benign |
Het |
| Pramel13 |
T |
A |
4: 144,121,397 (GRCm39) |
Y209F |
probably benign |
Het |
| Pramel24 |
T |
C |
4: 143,453,312 (GRCm39) |
I140T |
probably benign |
Het |
| Pramel28 |
T |
C |
4: 143,692,411 (GRCm39) |
I197V |
probably benign |
Het |
| Pramel28 |
T |
A |
4: 143,692,608 (GRCm39) |
Q131L |
probably benign |
Het |
| Prdm4 |
A |
T |
10: 85,743,685 (GRCm39) |
M190K |
possibly damaging |
Het |
| Prex2 |
T |
A |
1: 11,210,489 (GRCm39) |
F597L |
probably benign |
Het |
| Ranbp3l |
A |
G |
15: 9,060,940 (GRCm39) |
E403G |
probably damaging |
Het |
| Rgmb |
C |
T |
17: 16,027,565 (GRCm39) |
A385T |
possibly damaging |
Het |
| Scn4a |
T |
A |
11: 106,211,671 (GRCm39) |
I1449F |
probably damaging |
Het |
| Slc17a9 |
T |
C |
2: 180,382,311 (GRCm39) |
|
probably benign |
Het |
| Slc26a2 |
T |
C |
18: 61,331,974 (GRCm39) |
I486V |
probably damaging |
Het |
| Sntn |
A |
T |
14: 13,678,991 (GRCm38) |
D55V |
probably damaging |
Het |
| Snx25 |
T |
A |
8: 46,498,247 (GRCm39) |
R595S |
probably benign |
Het |
| Spag11b |
C |
T |
8: 19,191,426 (GRCm39) |
T33I |
probably damaging |
Het |
| Sval2 |
A |
G |
6: 41,841,181 (GRCm39) |
I81M |
probably damaging |
Het |
| Tab2 |
A |
G |
10: 7,795,039 (GRCm39) |
V481A |
probably damaging |
Het |
| Zfp867 |
G |
A |
11: 59,355,003 (GRCm39) |
Q109* |
probably null |
Het |
| Zfp935 |
T |
C |
13: 62,602,247 (GRCm39) |
T318A |
probably benign |
Het |
|
| Other mutations in Cep78 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Cep78
|
APN |
19 |
15,946,504 (GRCm39) |
missense |
probably benign |
|
|
IGL00920:Cep78
|
APN |
19 |
15,958,850 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01548:Cep78
|
APN |
19 |
15,958,564 (GRCm39) |
splice site |
probably benign |
|
|
IGL01662:Cep78
|
APN |
19 |
15,938,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01933:Cep78
|
APN |
19 |
15,933,304 (GRCm39) |
missense |
probably benign |
|
|
IGL02014:Cep78
|
APN |
19 |
15,962,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02198:Cep78
|
APN |
19 |
15,933,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02331:Cep78
|
APN |
19 |
15,951,779 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02431:Cep78
|
APN |
19 |
15,936,943 (GRCm39) |
missense |
probably benign |
|
|
IGL02731:Cep78
|
APN |
19 |
15,933,670 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03268:Cep78
|
APN |
19 |
15,951,806 (GRCm39) |
nonsense |
probably null |
|
|
himalayas
|
UTSW |
19 |
15,946,492 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0426:Cep78
|
UTSW |
19 |
15,948,334 (GRCm39) |
nonsense |
probably null |
|
|
R0619:Cep78
|
UTSW |
19 |
15,956,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0659:Cep78
|
UTSW |
19 |
15,933,554 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1517:Cep78
|
UTSW |
19 |
15,937,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1758:Cep78
|
UTSW |
19 |
15,936,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Cep78
|
UTSW |
19 |
15,946,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Cep78
|
UTSW |
19 |
15,933,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1920:Cep78
|
UTSW |
19 |
15,951,715 (GRCm39) |
splice site |
probably benign |
|
|
R2483:Cep78
|
UTSW |
19 |
15,938,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2958:Cep78
|
UTSW |
19 |
15,956,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3814:Cep78
|
UTSW |
19 |
15,959,166 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4133:Cep78
|
UTSW |
19 |
15,946,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4214:Cep78
|
UTSW |
19 |
15,936,943 (GRCm39) |
missense |
probably benign |
|
|
R5783:Cep78
|
UTSW |
19 |
15,933,723 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5791:Cep78
|
UTSW |
19 |
15,938,436 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5910:Cep78
|
UTSW |
19 |
15,946,492 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5924:Cep78
|
UTSW |
19 |
15,938,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6148:Cep78
|
UTSW |
19 |
15,959,150 (GRCm39) |
nonsense |
probably null |
|
|
R6162:Cep78
|
UTSW |
19 |
15,952,304 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6235:Cep78
|
UTSW |
19 |
15,953,850 (GRCm39) |
splice site |
probably null |
|
|
R6968:Cep78
|
UTSW |
19 |
15,959,102 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7228:Cep78
|
UTSW |
19 |
15,946,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7913:Cep78
|
UTSW |
19 |
15,947,941 (GRCm39) |
missense |
probably benign |
|
|
R7914:Cep78
|
UTSW |
19 |
15,953,672 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7934:Cep78
|
UTSW |
19 |
15,933,754 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8059:Cep78
|
UTSW |
19 |
15,958,876 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8146:Cep78
|
UTSW |
19 |
15,933,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8532:Cep78
|
UTSW |
19 |
15,936,948 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9039:Cep78
|
UTSW |
19 |
15,936,907 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9062:Cep78
|
UTSW |
19 |
15,956,318 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9264:Cep78
|
UTSW |
19 |
15,951,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation