Incidental Mutation 'R3961:Taf7'
| ID |
312101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taf7
|
| Ensembl Gene |
ENSMUSG00000051316 |
| Gene Name |
TATA-box binding protein associated factor 7 |
| Synonyms |
TAFII55, Taf2f, 55kDa |
| MMRRC Submission |
040836-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3961 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37773544-37777257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37776174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 131
(V131A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058635]
[ENSMUST00000066272]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q9R1C0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058635
|
| SMART Domains |
Protein: ENSMUSP00000052849
Gene: ENSMUSG00000050304
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
60 |
5.9e-11 |
PFAM |
|
Pfam:Mito_carr
|
67 |
165 |
9.5e-20 |
PFAM |
|
Pfam:Mito_carr
|
169 |
262 |
8.9e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066272
AA Change: V131A
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000065645
Gene: ENSMUSG00000051316
AA Change: V131A
| Domain | Start | End | E-Value | Type |
|---|
|
TAFII55_N
|
12 |
178 |
4.63e-94 |
SMART |
|
low complexity region
|
225 |
235 |
N/A |
INTRINSIC |
|
coiled coil region
|
237 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
| SMART Domains |
Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The intronless gene for this transcription coactivator is located between the protocadherin beta and gamma gene clusters on chromosome 5. The protein encoded by this gene is a component of the TFIID protein complex, a complex which binds to the TATA box in class II promoters and recruits RNA polymerase II and other factors. This particular subunit interacts with the largest TFIID subunit, as well as multiple transcription activators. The protein is required for transcription by promoters targeted by RNA polymerase II. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E3.5 and E5.5. Mice homozygous for a conditional allele activated in thymocytes exhibit impaired T cell differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Bicral |
T |
C |
17: 47,135,751 (GRCm39) |
I486M |
probably damaging |
Het |
| Btbd1 |
C |
A |
7: 81,468,083 (GRCm39) |
E146* |
probably null |
Het |
| Cdcp1 |
T |
C |
9: 123,011,446 (GRCm39) |
T344A |
possibly damaging |
Het |
| Cenpm |
A |
T |
15: 82,118,574 (GRCm39) |
L180Q |
possibly damaging |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Dazl |
A |
G |
17: 50,595,161 (GRCm39) |
V91A |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,184,284 (GRCm39) |
V35I |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,825,244 (GRCm39) |
|
probably null |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,252,613 (GRCm39) |
M419K |
probably damaging |
Het |
| Ncan |
G |
A |
8: 70,562,950 (GRCm39) |
T436M |
probably benign |
Het |
| Nphp3 |
G |
T |
9: 103,880,241 (GRCm39) |
E88* |
probably null |
Het |
| Or5ak23 |
T |
C |
2: 85,245,216 (GRCm39) |
I2M |
possibly damaging |
Het |
| Pdcl |
T |
C |
2: 37,242,199 (GRCm39) |
M184V |
probably benign |
Het |
| Polr3b |
T |
C |
10: 84,520,166 (GRCm39) |
M694T |
possibly damaging |
Het |
| Pramel12 |
T |
A |
4: 143,145,888 (GRCm39) |
N452K |
probably benign |
Het |
| Prkdc |
T |
G |
16: 15,647,475 (GRCm39) |
|
probably null |
Het |
| Prss35 |
A |
G |
9: 86,637,802 (GRCm39) |
M191V |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Tesk1 |
A |
G |
4: 43,445,133 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
C |
T |
1: 36,858,031 (GRCm39) |
D741N |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Tpte |
A |
G |
8: 22,849,431 (GRCm39) |
S553G |
probably damaging |
Het |
| Trpv3 |
A |
T |
11: 73,178,246 (GRCm39) |
K438* |
probably null |
Het |
| Vmn2r107 |
G |
A |
17: 20,595,717 (GRCm39) |
G757R |
probably damaging |
Het |
|
| Other mutations in Taf7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01061:Taf7
|
APN |
18 |
37,776,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02123:Taf7
|
APN |
18 |
37,775,533 (GRCm39) |
intron |
probably benign |
|
|
IGL02155:Taf7
|
APN |
18 |
37,776,564 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
|
IGL02291:Taf7
|
APN |
18 |
37,776,415 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4590:Taf7
|
UTSW |
18 |
37,775,784 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5629:Taf7
|
UTSW |
18 |
37,776,555 (GRCm39) |
missense |
probably benign |
|
|
R5982:Taf7
|
UTSW |
18 |
37,776,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6492:Taf7
|
UTSW |
18 |
37,776,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6896:Taf7
|
UTSW |
18 |
37,775,733 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6944:Taf7
|
UTSW |
18 |
37,775,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7154:Taf7
|
UTSW |
18 |
37,775,601 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7174:Taf7
|
UTSW |
18 |
37,776,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Taf7
|
UTSW |
18 |
37,776,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9006:Taf7
|
UTSW |
18 |
37,775,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9042:Taf7
|
UTSW |
18 |
37,776,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9258:Taf7
|
UTSW |
18 |
37,776,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9707:Taf7
|
UTSW |
18 |
37,776,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATTCCTGGAGAAGAGATGTCC -3'
(R):5'- TTGCCTTGTGTTACGGAAAGC -3'
Sequencing Primer
(F):5'- AAGAGATGTCCAGGCCTTGATTTTC -3'
(R):5'- GTGTTACGGAAAGCTTGAAAACCATC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation