Incidental Mutation 'IGL01474:Cdc73'
ID |
88380 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cdc73
|
Ensembl Gene |
ENSMUSG00000026361 |
Gene Name |
cell division cycle 73, Paf1/RNA polymerase II complex component |
Synonyms |
Hrpt2, C130030P16Rik, 8430414L16Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01474
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
143479014-143578631 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 143547070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 276
(V276M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018337
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018337]
|
AlphaFold |
Q8JZM7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018337
AA Change: V276M
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000018337 Gene: ENSMUSG00000026361 AA Change: V276M
Domain | Start | End | E-Value | Type |
Pfam:CDC73_N
|
1 |
297 |
3.4e-135 |
PFAM |
Pfam:CDC73_C
|
356 |
521 |
2.6e-53 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212510
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009] PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality around hatching or implantation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot12 |
A |
T |
13: 91,920,902 (GRCm39) |
K336I |
possibly damaging |
Het |
Acsbg2 |
A |
G |
17: 57,168,621 (GRCm39) |
I166T |
possibly damaging |
Het |
Adrm1b |
G |
T |
3: 92,335,650 (GRCm39) |
Q351K |
probably damaging |
Het |
Bpifc |
T |
A |
10: 85,836,503 (GRCm39) |
M1L |
probably damaging |
Het |
Ccnb2 |
T |
A |
9: 70,326,305 (GRCm39) |
N44I |
probably benign |
Het |
Cnot7 |
A |
G |
8: 40,960,490 (GRCm39) |
|
probably null |
Het |
Col11a1 |
T |
A |
3: 114,010,783 (GRCm39) |
|
probably benign |
Het |
Coro1c |
T |
C |
5: 114,020,216 (GRCm39) |
|
probably benign |
Het |
Crocc |
A |
G |
4: 140,762,703 (GRCm39) |
|
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,102,493 (GRCm39) |
Y396N |
probably benign |
Het |
Gm2888 |
T |
A |
14: 3,032,041 (GRCm38) |
D116E |
probably damaging |
Het |
Gm29326 |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
Greb1 |
A |
G |
12: 16,734,502 (GRCm39) |
V1496A |
probably benign |
Het |
H2bc18 |
A |
G |
3: 96,177,125 (GRCm39) |
|
probably benign |
Het |
Hdac7 |
A |
G |
15: 97,695,820 (GRCm39) |
|
probably null |
Het |
Hectd4 |
A |
G |
5: 121,474,712 (GRCm39) |
T2778A |
possibly damaging |
Het |
Hivep2 |
A |
T |
10: 14,019,406 (GRCm39) |
H2059L |
probably damaging |
Het |
Ift88 |
A |
T |
14: 57,715,531 (GRCm39) |
I525F |
probably benign |
Het |
Irag1 |
A |
T |
7: 110,470,640 (GRCm39) |
S898T |
possibly damaging |
Het |
Itga5 |
G |
A |
15: 103,262,697 (GRCm39) |
Q324* |
probably null |
Het |
Klhl14 |
T |
G |
18: 21,690,911 (GRCm39) |
H513P |
probably damaging |
Het |
Lama5 |
A |
T |
2: 179,838,363 (GRCm39) |
D837E |
probably damaging |
Het |
Muc6 |
C |
A |
7: 141,237,572 (GRCm39) |
C215F |
probably damaging |
Het |
Myh15 |
A |
G |
16: 48,952,461 (GRCm39) |
K844E |
probably damaging |
Het |
Neb |
A |
G |
2: 52,218,917 (GRCm39) |
V31A |
unknown |
Het |
Nipbl |
A |
G |
15: 8,340,693 (GRCm39) |
I2009T |
possibly damaging |
Het |
Or2ag18 |
A |
G |
7: 106,405,147 (GRCm39) |
I174T |
probably benign |
Het |
Piwil2 |
T |
C |
14: 70,635,667 (GRCm39) |
R536G |
probably benign |
Het |
Pld3 |
A |
G |
7: 27,232,044 (GRCm39) |
V412A |
probably damaging |
Het |
Prkaa2 |
A |
C |
4: 104,906,529 (GRCm39) |
|
probably null |
Het |
Rdh9 |
T |
C |
10: 127,626,814 (GRCm39) |
L289P |
probably damaging |
Het |
Rusc2 |
C |
T |
4: 43,416,434 (GRCm39) |
S580L |
probably damaging |
Het |
Sidt2 |
A |
G |
9: 45,858,280 (GRCm39) |
|
probably null |
Het |
Slc18b1 |
A |
T |
10: 23,679,748 (GRCm39) |
K92N |
probably benign |
Het |
Slc20a2 |
G |
A |
8: 23,025,573 (GRCm39) |
V92M |
possibly damaging |
Het |
Slc4a11 |
A |
T |
2: 130,527,464 (GRCm39) |
F644I |
probably damaging |
Het |
Spata31d1d |
A |
T |
13: 59,878,029 (GRCm39) |
|
probably benign |
Het |
Spef2 |
T |
C |
15: 9,663,244 (GRCm39) |
M846V |
probably benign |
Het |
Syncrip |
T |
C |
9: 88,362,800 (GRCm39) |
T3A |
probably benign |
Het |
|
Other mutations in Cdc73 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01598:Cdc73
|
APN |
1 |
143,575,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R0648:Cdc73
|
UTSW |
1 |
143,571,200 (GRCm39) |
missense |
probably benign |
0.00 |
R1299:Cdc73
|
UTSW |
1 |
143,575,019 (GRCm39) |
missense |
probably benign |
0.00 |
R1342:Cdc73
|
UTSW |
1 |
143,578,230 (GRCm39) |
critical splice donor site |
probably null |
|
R1411:Cdc73
|
UTSW |
1 |
143,485,252 (GRCm39) |
splice site |
probably benign |
|
R1837:Cdc73
|
UTSW |
1 |
143,543,395 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2208:Cdc73
|
UTSW |
1 |
143,485,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R3721:Cdc73
|
UTSW |
1 |
143,571,191 (GRCm39) |
missense |
possibly damaging |
0.77 |
R3797:Cdc73
|
UTSW |
1 |
143,553,461 (GRCm39) |
missense |
probably benign |
0.22 |
R4088:Cdc73
|
UTSW |
1 |
143,484,252 (GRCm39) |
utr 3 prime |
probably benign |
|
R4603:Cdc73
|
UTSW |
1 |
143,553,595 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4782:Cdc73
|
UTSW |
1 |
143,503,613 (GRCm39) |
missense |
probably benign |
0.10 |
R4799:Cdc73
|
UTSW |
1 |
143,503,613 (GRCm39) |
missense |
probably benign |
0.10 |
R5512:Cdc73
|
UTSW |
1 |
143,578,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R5801:Cdc73
|
UTSW |
1 |
143,484,281 (GRCm39) |
missense |
probably benign |
0.01 |
R6006:Cdc73
|
UTSW |
1 |
143,493,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R6258:Cdc73
|
UTSW |
1 |
143,567,211 (GRCm39) |
missense |
probably benign |
0.32 |
R6260:Cdc73
|
UTSW |
1 |
143,567,211 (GRCm39) |
missense |
probably benign |
0.32 |
R6744:Cdc73
|
UTSW |
1 |
143,577,887 (GRCm39) |
intron |
probably benign |
|
R8513:Cdc73
|
UTSW |
1 |
143,493,129 (GRCm39) |
nonsense |
probably null |
|
R9030:Cdc73
|
UTSW |
1 |
143,485,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R9431:Cdc73
|
UTSW |
1 |
143,545,740 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2013-11-18 |