Incidental Mutation 'R3797:Cdc73'
| ID |
272784 |
| 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 |
040758-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3797 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
143479014-143578631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143553461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 215
(D215E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018337]
|
| AlphaFold |
Q8JZM7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018337
AA Change: D215E
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000018337
Gene: ENSMUSG00000026361
AA Change: D215E
| 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
|
| Meta Mutation Damage Score |
0.1412 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (39/39) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| B4galt1 |
G |
A |
4: 40,807,258 (GRCm39) |
T376I |
probably benign |
Het |
| Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
| Capn5 |
C |
T |
7: 97,775,036 (GRCm39) |
G535R |
probably null |
Het |
| Ccdc170 |
G |
A |
10: 4,510,920 (GRCm39) |
V660I |
possibly damaging |
Het |
| Clec14a |
G |
A |
12: 58,314,695 (GRCm39) |
A309V |
probably benign |
Het |
| Clns1a |
G |
A |
7: 97,346,042 (GRCm39) |
G36R |
probably benign |
Het |
| Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
| Dsp |
T |
A |
13: 38,361,260 (GRCm39) |
|
probably null |
Het |
| Eif3d |
A |
G |
15: 77,852,769 (GRCm39) |
F4S |
probably damaging |
Het |
| Ephb1 |
T |
C |
9: 101,848,466 (GRCm39) |
T611A |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,127,204 (GRCm39) |
I683M |
possibly damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,323,934 (GRCm39) |
S32P |
probably benign |
Het |
| Limch1 |
A |
G |
5: 67,126,422 (GRCm39) |
T8A |
probably damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,669,625 (GRCm39) |
Q1455R |
probably damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,573,505 (GRCm39) |
E131G |
possibly damaging |
Het |
| Or51v14 |
C |
T |
7: 103,260,654 (GRCm39) |
R302Q |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,942,746 (GRCm39) |
I465V |
probably benign |
Het |
| Pcdhgb8 |
T |
C |
18: 37,895,728 (GRCm39) |
I266T |
probably benign |
Het |
| Pde4d |
T |
C |
13: 109,769,431 (GRCm39) |
S40P |
probably benign |
Het |
| Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
| Polk |
A |
T |
13: 96,623,490 (GRCm39) |
|
probably benign |
Het |
| Ppl |
T |
C |
16: 4,922,414 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,287,500 (GRCm39) |
C218R |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
| Skida1 |
C |
A |
2: 18,050,708 (GRCm39) |
E815* |
probably null |
Het |
| Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
| Svil |
T |
A |
18: 5,060,534 (GRCm39) |
C802S |
probably benign |
Het |
| Trim7 |
A |
G |
11: 48,736,497 (GRCm39) |
|
probably null |
Het |
| Ugt3a1 |
G |
A |
15: 9,310,727 (GRCm39) |
W336* |
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,285 (GRCm39) |
S760G |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,723,311 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,862,602 (GRCm39) |
I590N |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
| Xpnpep1 |
A |
T |
19: 52,994,773 (GRCm39) |
V285D |
probably benign |
Het |
| Zfp934 |
T |
C |
13: 62,665,702 (GRCm39) |
K313R |
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 |
|
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 |
|
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'- ACCTTCACACAGTTTGAATAAGCC -3'
(R):5'- TTGTACTGAAAGAATCTTGGCTGTG -3'
Sequencing Primer
(F):5'- TGAATAAGCCTCAAATTGACAGACTC -3'
(R):5'- GAAGCCATGTCAGTGGAA -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation