Incidental Mutation 'R1342:Cdc73'
| ID |
156384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc73
|
| Ensembl Gene |
ENSMUSG00000026361 |
| Gene Name |
cell division cycle 73, Paf1/RNA polymerase II complex component |
| Synonyms |
Hrpt2, C130030P16Rik, 8430414L16Rik |
| MMRRC Submission |
039407-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1342 (G1)
|
| Quality Score |
177 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
143479014-143578631 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 143578230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018337]
[ENSMUST00000159794]
|
| AlphaFold |
Q8JZM7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000018337
|
| SMART Domains |
Protein: ENSMUSP00000018337
Gene: ENSMUSG00000026361
| 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 |
probably benign
Transcript: ENSMUST00000159794
|
| SMART Domains |
Protein: ENSMUSP00000139872
Gene: ENSMUSG00000026361
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212510
|
| Meta Mutation Damage Score |
0.9496 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.6%
|
| Validation Efficiency |
100% (43/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp10a |
G |
T |
7: 58,465,894 (GRCm39) |
|
probably benign |
Het |
| B3gnt9 |
T |
C |
8: 105,980,956 (GRCm39) |
E144G |
probably null |
Het |
| Bcl9 |
G |
T |
3: 97,113,042 (GRCm39) |
Q1138K |
possibly damaging |
Het |
| C6 |
T |
C |
15: 4,769,231 (GRCm39) |
|
probably benign |
Het |
| Ccl4 |
A |
G |
11: 83,554,402 (GRCm39) |
|
probably benign |
Het |
| Cemip |
A |
T |
7: 83,593,283 (GRCm39) |
L1140* |
probably null |
Het |
| Chd4 |
C |
A |
6: 125,074,151 (GRCm39) |
P8Q |
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,175,351 (GRCm39) |
|
probably null |
Het |
| Col9a1 |
G |
A |
1: 24,262,701 (GRCm39) |
|
probably null |
Het |
| Colgalt1 |
C |
T |
8: 72,070,804 (GRCm39) |
T232I |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,939,974 (GRCm39) |
D1640G |
probably damaging |
Het |
| Dot1l |
T |
G |
10: 80,621,859 (GRCm39) |
C504G |
probably benign |
Het |
| Gm9892 |
T |
C |
8: 52,649,458 (GRCm39) |
T212A |
probably benign |
Het |
| Hjurp |
G |
A |
1: 88,205,090 (GRCm39) |
|
probably benign |
Het |
| Ifnar2 |
A |
G |
16: 91,200,809 (GRCm39) |
D350G |
possibly damaging |
Het |
| Ift172 |
T |
C |
5: 31,419,210 (GRCm39) |
I1144V |
probably benign |
Het |
| Ipo7 |
A |
T |
7: 109,629,011 (GRCm39) |
N94Y |
possibly damaging |
Het |
| Irag1 |
T |
A |
7: 110,487,252 (GRCm39) |
M699L |
probably benign |
Het |
| Mapkbp1 |
C |
A |
2: 119,829,015 (GRCm39) |
A57D |
possibly damaging |
Het |
| Mmd |
T |
A |
11: 90,167,676 (GRCm39) |
I235N |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Palld |
A |
G |
8: 61,975,916 (GRCm39) |
|
probably null |
Het |
| Parp4 |
G |
A |
14: 56,827,854 (GRCm39) |
E202K |
probably damaging |
Het |
| Pclo |
C |
A |
5: 14,732,191 (GRCm39) |
|
probably benign |
Het |
| Pde8a |
T |
C |
7: 80,952,042 (GRCm39) |
|
probably null |
Het |
| Pdgfrb |
T |
A |
18: 61,198,952 (GRCm39) |
L370* |
probably null |
Het |
| Phf2 |
A |
T |
13: 48,957,953 (GRCm39) |
S1020R |
unknown |
Het |
| Pik3r4 |
T |
A |
9: 105,528,100 (GRCm39) |
|
probably null |
Het |
| Plxnb1 |
C |
A |
9: 108,929,720 (GRCm39) |
P192Q |
possibly damaging |
Het |
| Ppil3 |
A |
T |
1: 58,480,037 (GRCm39) |
I46N |
probably damaging |
Het |
| Prr14l |
A |
C |
5: 32,987,604 (GRCm39) |
C630W |
probably damaging |
Het |
| Rfx5 |
A |
G |
3: 94,865,723 (GRCm39) |
I341V |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,581,148 (GRCm39) |
K2895E |
probably damaging |
Het |
| Slc5a12 |
T |
C |
2: 110,447,435 (GRCm39) |
|
probably null |
Het |
| Slc8a3 |
T |
C |
12: 81,362,790 (GRCm39) |
T10A |
probably damaging |
Het |
| Ss18 |
A |
G |
18: 14,769,595 (GRCm39) |
Y321H |
unknown |
Het |
| Sspo |
A |
G |
6: 48,438,569 (GRCm39) |
N1546D |
probably benign |
Het |
| Thbs4 |
G |
A |
13: 92,888,925 (GRCm39) |
L923F |
probably damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
|
| Other mutations in Cdc73 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01474:Cdc73
|
APN |
1 |
143,547,070 (GRCm39) |
missense |
probably benign |
0.10 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTCGGCTTCTCCAACACAGAG -3'
(R):5'- GGCCTTGCCTTATATAGCGCGG -3'
Sequencing Primer
(F):5'- GACTTGACCGCTCTAGAATCCG -3'
(R):5'- gaagagggcgaggcgac -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation