Incidental Mutation 'R8844:Taf1d'
| ID |
674607 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taf1d
|
| Ensembl Gene |
ENSMUSG00000031939 |
| Gene Name |
TATA-box binding protein associated factor, RNA polymerase I, D |
| Synonyms |
4930553M18Rik, TAF(I)41, TAFI41, Josd3 |
| MMRRC Submission |
068733-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.852)
|
| Stock # |
R8844 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
15217510-15228287 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15221324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 210
(E210G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034415
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034415]
[ENSMUST00000164079]
[ENSMUST00000178977]
[ENSMUST00000180339]
[ENSMUST00000213763]
[ENSMUST00000214054]
[ENSMUST00000215124]
[ENSMUST00000216109]
[ENSMUST00000216825]
[ENSMUST00000216955]
|
| AlphaFold |
Q9D4V4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034415
AA Change: E210G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034415
Gene: ENSMUSG00000031939
AA Change: E210G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAF1D
|
27 |
243 |
4.3e-104 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164079
AA Change: E210G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129141
Gene: ENSMUSG00000031939
AA Change: E210G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAF1D
|
27 |
243 |
5.4e-99 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178977
|
| SMART Domains |
Protein: ENSMUSP00000136335
Gene: ENSMUSG00000031938
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1907
|
19 |
303 |
3.83e-200 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180339
|
| SMART Domains |
Protein: ENSMUSP00000136717
Gene: ENSMUSG00000031938
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1907
|
19 |
303 |
3.83e-200 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213763
AA Change: E210G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214054
AA Change: E210G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214316
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215124
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215749
AA Change: E43G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216109
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216825
AA Change: E210G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216955
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al., 2004 [PubMed 15520167]; Gorski et al., 2007 [PubMed 17318177]).[supplied by OMIM, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
A |
T |
4: 122,595,011 (GRCm39) |
H89L |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,984,254 (GRCm39) |
V1846A |
probably damaging |
Het |
| Arhgap9 |
A |
T |
10: 127,161,015 (GRCm39) |
T181S |
probably benign |
Het |
| Bmp10 |
A |
G |
6: 87,410,681 (GRCm39) |
Y158C |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,599 (GRCm39) |
C8R |
possibly damaging |
Het |
| Cntln |
A |
G |
4: 84,892,234 (GRCm39) |
H373R |
probably damaging |
Het |
| Cpn2 |
A |
G |
16: 30,078,115 (GRCm39) |
S529P |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,604,590 (GRCm39) |
N1051S |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 48,536,815 (GRCm39) |
T129M |
probably damaging |
Het |
| F12 |
T |
C |
13: 55,568,198 (GRCm39) |
H432R |
probably damaging |
Het |
| Foxm1 |
T |
C |
6: 128,350,439 (GRCm39) |
F595S |
probably damaging |
Het |
| Foxred2 |
A |
T |
15: 77,832,677 (GRCm39) |
I410N |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,337,154 (GRCm39) |
F238I |
possibly damaging |
Het |
| Galnt3 |
A |
G |
2: 65,915,636 (GRCm39) |
V575A |
probably benign |
Het |
| Gpr149 |
T |
A |
3: 62,502,572 (GRCm39) |
Y428F |
probably benign |
Het |
| Gtf2ird1 |
A |
T |
5: 134,389,879 (GRCm39) |
Y970* |
probably null |
Het |
| Hint2 |
G |
C |
4: 43,654,343 (GRCm39) |
Q157E |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,235,006 (GRCm39) |
T385A |
|
Het |
| Kcnc4 |
G |
A |
3: 107,355,396 (GRCm39) |
R351C |
probably damaging |
Het |
| Kif7 |
A |
G |
7: 79,357,280 (GRCm39) |
L642S |
possibly damaging |
Het |
| Lilra5 |
T |
A |
7: 4,241,663 (GRCm39) |
V154D |
probably damaging |
Het |
| Morc2b |
A |
G |
17: 33,354,742 (GRCm39) |
L1010P |
probably damaging |
Het |
| Mphosph10 |
C |
A |
7: 64,027,087 (GRCm39) |
K575N |
probably damaging |
Het |
| Mup7 |
C |
A |
4: 60,067,537 (GRCm39) |
E193* |
probably null |
Het |
| Nbea |
T |
C |
3: 55,998,415 (GRCm39) |
T131A |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,006,060 (GRCm39) |
I248T |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,153,920 (GRCm39) |
I296F |
possibly damaging |
Het |
| Odam |
A |
G |
5: 88,037,322 (GRCm39) |
E172G |
probably damaging |
Het |
| Optn |
A |
G |
2: 5,031,923 (GRCm39) |
|
probably null |
Het |
| Or5ac16 |
G |
C |
16: 59,021,929 (GRCm39) |
P287A |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,112,336 (GRCm39) |
Y484N |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,480,206 (GRCm39) |
N1308D |
probably damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,618,801 (GRCm39) |
E197V |
probably benign |
Het |
| Pcolce2 |
G |
A |
9: 95,563,625 (GRCm39) |
D204N |
possibly damaging |
Het |
| Plxna4 |
T |
G |
6: 32,174,026 (GRCm39) |
T1190P |
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,380,976 (GRCm39) |
F349Y |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,500,950 (GRCm39) |
Y136C |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,446,791 (GRCm39) |
N1411K |
probably damaging |
Het |
| Scube1 |
A |
G |
15: 83,561,164 (GRCm39) |
C143R |
probably damaging |
Het |
| Stau1 |
T |
C |
2: 166,793,266 (GRCm39) |
T290A |
probably benign |
Het |
| Sycp1 |
T |
A |
3: 102,772,421 (GRCm39) |
K629I |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,153,117 (GRCm39) |
E204G |
possibly damaging |
Het |
| Tmem229a |
T |
C |
6: 24,955,187 (GRCm39) |
D189G |
probably benign |
Het |
| Tmem269 |
G |
A |
4: 119,062,876 (GRCm39) |
P254S |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,563,469 (GRCm39) |
F767I |
probably damaging |
Het |
| Ube2q2 |
C |
A |
9: 55,102,757 (GRCm39) |
A331D |
|
Het |
| Usp1 |
A |
G |
4: 98,823,017 (GRCm39) |
Y777C |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,964,891 (GRCm39) |
N245D |
probably benign |
Het |
| Vmn1r212 |
T |
A |
13: 23,067,526 (GRCm39) |
Q269L |
probably benign |
Het |
| Wfdc11 |
T |
A |
2: 164,507,373 (GRCm39) |
Y28F |
probably benign |
Het |
| Wwp2 |
A |
T |
8: 108,210,048 (GRCm39) |
D142V |
probably damaging |
Het |
|
| Other mutations in Taf1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Taf1d
|
APN |
9 |
15,222,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01861:Taf1d
|
APN |
9 |
15,220,035 (GRCm39) |
splice site |
probably null |
|
|
IGL02448:Taf1d
|
APN |
9 |
15,221,690 (GRCm39) |
nonsense |
probably null |
|
|
IGL03106:Taf1d
|
APN |
9 |
15,221,237 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0026:Taf1d
|
UTSW |
9 |
15,219,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:Taf1d
|
UTSW |
9 |
15,219,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0079:Taf1d
|
UTSW |
9 |
15,221,240 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4298:Taf1d
|
UTSW |
9 |
15,219,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4379:Taf1d
|
UTSW |
9 |
15,223,277 (GRCm39) |
intron |
probably benign |
|
|
R4381:Taf1d
|
UTSW |
9 |
15,223,277 (GRCm39) |
intron |
probably benign |
|
|
R4927:Taf1d
|
UTSW |
9 |
15,221,250 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5541:Taf1d
|
UTSW |
9 |
15,220,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6072:Taf1d
|
UTSW |
9 |
15,222,856 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6736:Taf1d
|
UTSW |
9 |
15,219,119 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7527:Taf1d
|
UTSW |
9 |
15,220,133 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8031:Taf1d
|
UTSW |
9 |
15,221,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0057:Taf1d
|
UTSW |
9 |
15,219,816 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTTGCAGCAAGCTGTTG -3'
(R):5'- GATGTCCTGTGCACATTACCTC -3'
Sequencing Primer
(F):5'- GAAGCAAATGCATGCTGG -3'
(R):5'- CTGTGCACATTACCTCAGATTAAAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation