Incidental Mutation 'R1299:Cdc73'
| ID |
158233 |
| 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 |
039365-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
143479014-143578631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143575019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 58
(D58G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018337]
[ENSMUST00000159794]
|
| AlphaFold |
Q8JZM7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018337
AA Change: D58G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000018337
Gene: ENSMUSG00000026361
AA Change: D58G
| 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 |
0.1084 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
100% (38/38) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,244,821 (GRCm39) |
L2228P |
possibly damaging |
Het |
| Acnat1 |
T |
A |
4: 49,450,925 (GRCm39) |
E62V |
possibly damaging |
Het |
| Adam7 |
A |
G |
14: 68,763,748 (GRCm39) |
|
probably benign |
Het |
| Ate1 |
A |
T |
7: 130,106,485 (GRCm39) |
V292D |
probably damaging |
Het |
| Cbx8 |
T |
C |
11: 118,931,676 (GRCm39) |
M1V |
probably null |
Het |
| Cgnl1 |
G |
A |
9: 71,628,994 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,183,868 (GRCm39) |
|
probably benign |
Het |
| Fam133b |
T |
C |
5: 3,604,626 (GRCm39) |
|
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,803,638 (GRCm39) |
|
probably benign |
Het |
| Golga3 |
G |
A |
5: 110,352,709 (GRCm39) |
A867T |
probably benign |
Het |
| Gpr142 |
A |
T |
11: 114,695,185 (GRCm39) |
Y50F |
probably benign |
Het |
| Gramd1c |
A |
G |
16: 43,803,865 (GRCm39) |
|
probably benign |
Het |
| Gypa |
G |
A |
8: 81,223,382 (GRCm39) |
V53I |
unknown |
Het |
| H2-DMb2 |
T |
C |
17: 34,369,561 (GRCm39) |
V235A |
probably benign |
Het |
| Igkv10-94 |
T |
C |
6: 68,681,482 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
C |
7: 125,451,195 (GRCm39) |
M1109L |
probably benign |
Het |
| Klhl17 |
T |
C |
4: 156,315,419 (GRCm39) |
Y484C |
probably damaging |
Het |
| Ltbp3 |
T |
C |
19: 5,795,456 (GRCm39) |
|
probably benign |
Het |
| Mapkbp1 |
G |
A |
2: 119,845,885 (GRCm39) |
C412Y |
probably damaging |
Het |
| Mblac2 |
C |
A |
13: 81,859,845 (GRCm39) |
C65* |
probably null |
Het |
| Or5b104 |
T |
A |
19: 13,072,494 (GRCm39) |
N173Y |
possibly damaging |
Het |
| Or6c217 |
A |
G |
10: 129,737,946 (GRCm39) |
I211T |
probably benign |
Het |
| Parn |
G |
A |
16: 13,482,593 (GRCm39) |
T85M |
probably benign |
Het |
| Pcdhb22 |
T |
C |
18: 37,653,643 (GRCm39) |
S704P |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,427,827 (GRCm39) |
F942L |
possibly damaging |
Het |
| Prox1 |
G |
T |
1: 189,879,140 (GRCm39) |
|
probably benign |
Het |
| Prss55 |
A |
T |
14: 64,319,147 (GRCm39) |
I70N |
probably damaging |
Het |
| Slc25a13 |
C |
T |
6: 6,113,937 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
T |
C |
19: 26,749,011 (GRCm39) |
|
probably null |
Het |
| Smarcc2 |
C |
A |
10: 128,297,247 (GRCm39) |
N46K |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,703,769 (GRCm39) |
Y22F |
probably benign |
Het |
| Tgfbr1 |
T |
A |
4: 47,396,587 (GRCm39) |
|
probably null |
Het |
| Xpr1 |
A |
C |
1: 155,292,949 (GRCm39) |
I11S |
probably damaging |
Het |
| Zfp354b |
A |
C |
11: 50,814,297 (GRCm39) |
S209R |
probably benign |
Het |
| Zfp882 |
A |
G |
8: 72,667,317 (GRCm39) |
E88G |
probably damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATGACAACTTCAGACATCTGAAACC -3'
(R):5'- GCGTCCCTAGTAAAACCTTCATCTGAGT -3'
Sequencing Primer
(F):5'- TCTGAAACCCATAGGTGAAGTC -3'
(R):5'- TACATGTAACTAAGGCC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation