Incidental Mutation 'R4470:Taf1c'
| ID |
329374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taf1c
|
| Ensembl Gene |
ENSMUSG00000031832 |
| Gene Name |
TATA-box binding protein associated factor, RNA polymerase I, C |
| Synonyms |
mTAFI95 |
| MMRRC Submission |
041727-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.948)
|
| Stock # |
R4470 (G1)
|
| Quality Score |
156 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120324713-120331945 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120326361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 526
(K526R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093099]
[ENSMUST00000093100]
[ENSMUST00000147964]
|
| AlphaFold |
Q6PDZ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093099
AA Change: K526R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090789
Gene: ENSMUSG00000031832
AA Change: K526R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
79 |
N/A |
INTRINSIC |
|
SCOP:d1k32a3
|
253 |
389 |
2e-3 |
SMART |
|
Blast:WD40
|
301 |
340 |
2e-15 |
BLAST |
|
low complexity region
|
457 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
732 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093100
|
| SMART Domains |
Protein: ENSMUSP00000090790
Gene: ENSMUSG00000031831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_9
|
115 |
298 |
5.7e-10 |
PFAM |
|
low complexity region
|
322 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117927
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131652
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144379
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147964
|
| SMART Domains |
Protein: ENSMUSP00000118480
Gene: ENSMUSG00000031832
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
79 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212929
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the largest SL1-specific TAF. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
C |
16: 85,595,404 (GRCm39) |
V258G |
possibly damaging |
Het |
| Adcy1 |
A |
G |
11: 7,094,804 (GRCm39) |
T577A |
probably benign |
Het |
| Adgb |
T |
C |
10: 10,274,695 (GRCm39) |
N728S |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,473,175 (GRCm39) |
S943P |
probably damaging |
Het |
| Ankdd1a |
T |
C |
9: 65,410,791 (GRCm39) |
D398G |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,796,761 (GRCm39) |
|
probably null |
Het |
| Atp13a1 |
T |
C |
8: 70,251,329 (GRCm39) |
S495P |
probably damaging |
Het |
| Camta2 |
T |
C |
11: 70,571,766 (GRCm39) |
D510G |
probably damaging |
Het |
| Cdh8 |
T |
A |
8: 100,143,321 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
C |
T |
17: 46,849,262 (GRCm39) |
A628T |
probably benign |
Het |
| Ddx19a |
A |
G |
8: 111,703,111 (GRCm39) |
V442A |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dnah7c |
T |
A |
1: 46,787,795 (GRCm39) |
S3283T |
possibly damaging |
Het |
| Fmo9 |
T |
A |
1: 166,507,799 (GRCm39) |
I19F |
probably damaging |
Het |
| Gmeb2 |
A |
T |
2: 180,906,938 (GRCm39) |
|
probably null |
Het |
| H2-K2 |
G |
A |
17: 34,219,035 (GRCm39) |
R23C |
probably benign |
Het |
| Icam5 |
T |
A |
9: 20,946,802 (GRCm39) |
C443* |
probably null |
Het |
| Il16 |
A |
G |
7: 83,300,046 (GRCm39) |
|
probably benign |
Het |
| Kcnj3 |
A |
T |
2: 55,327,877 (GRCm39) |
H222L |
probably damaging |
Het |
| Lama4 |
T |
A |
10: 38,956,492 (GRCm39) |
Y1138* |
probably null |
Het |
| Lpin3 |
A |
G |
2: 160,737,354 (GRCm39) |
T134A |
probably benign |
Het |
| Man1b1 |
C |
G |
2: 25,222,867 (GRCm39) |
|
probably benign |
Het |
| Msc |
G |
C |
1: 14,825,902 (GRCm39) |
P24R |
probably damaging |
Het |
| Mylk |
A |
G |
16: 34,732,522 (GRCm39) |
K601E |
probably benign |
Het |
| Myzap |
A |
G |
9: 71,499,563 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
T |
5: 125,179,705 (GRCm39) |
|
probably null |
Het |
| Nrxn3 |
T |
C |
12: 90,171,515 (GRCm39) |
S276P |
probably damaging |
Het |
| Or1j16 |
T |
C |
2: 36,530,233 (GRCm39) |
F61L |
probably damaging |
Het |
| Or4c114 |
T |
C |
2: 88,905,382 (GRCm39) |
N18D |
probably benign |
Het |
| Or4d6 |
T |
C |
19: 12,086,547 (GRCm39) |
|
probably null |
Het |
| Or51b4 |
G |
A |
7: 103,530,956 (GRCm39) |
P165S |
probably benign |
Het |
| Or6c202 |
G |
A |
10: 128,996,383 (GRCm39) |
L157F |
probably benign |
Het |
| Or8c13 |
A |
G |
9: 38,091,666 (GRCm39) |
M151T |
probably damaging |
Het |
| Or8d1 |
T |
C |
9: 38,766,927 (GRCm39) |
S190P |
probably damaging |
Het |
| Pramel5 |
T |
C |
4: 143,997,915 (GRCm39) |
K443E |
possibly damaging |
Het |
| Rock2 |
C |
T |
12: 17,021,276 (GRCm39) |
Q1019* |
probably null |
Het |
| Rps18-ps3 |
T |
A |
8: 107,989,762 (GRCm39) |
|
noncoding transcript |
Het |
| Sis |
T |
C |
3: 72,835,492 (GRCm39) |
|
probably null |
Het |
| Slc22a21 |
T |
A |
11: 53,846,839 (GRCm39) |
I345F |
probably benign |
Het |
| Sox5 |
A |
G |
6: 143,790,491 (GRCm39) |
M523T |
possibly damaging |
Het |
| Taf2 |
T |
C |
15: 54,922,276 (GRCm39) |
D337G |
possibly damaging |
Het |
| Tbx4 |
A |
G |
11: 85,802,948 (GRCm39) |
I275V |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tmem9 |
A |
G |
1: 135,955,234 (GRCm39) |
T123A |
probably benign |
Het |
| Trim69 |
A |
G |
2: 122,009,080 (GRCm39) |
Y380C |
probably damaging |
Het |
| Vldlr |
G |
T |
19: 27,212,219 (GRCm39) |
V78L |
probably damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,275 (GRCm39) |
N274K |
probably benign |
Het |
| Vmn2r104 |
G |
T |
17: 20,262,503 (GRCm39) |
S209Y |
probably damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,682,990 (GRCm39) |
N738I |
probably damaging |
Het |
| Wnt3 |
A |
G |
11: 103,703,450 (GRCm39) |
D311G |
probably damaging |
Het |
| Yme1l1 |
T |
C |
2: 23,076,344 (GRCm39) |
|
probably null |
Het |
| Zcchc14 |
C |
T |
8: 122,378,498 (GRCm39) |
|
probably benign |
Het |
| Zfp148 |
T |
C |
16: 33,316,602 (GRCm39) |
Y383H |
probably damaging |
Het |
| Zfp41 |
A |
G |
15: 75,490,368 (GRCm39) |
R107G |
probably damaging |
Het |
|
| Other mutations in Taf1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Taf1c
|
APN |
8 |
120,328,067 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01098:Taf1c
|
APN |
8 |
120,329,580 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01287:Taf1c
|
APN |
8 |
120,327,931 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02339:Taf1c
|
APN |
8 |
120,331,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02642:Taf1c
|
APN |
8 |
120,325,796 (GRCm39) |
missense |
probably benign |
|
|
IGL02954:Taf1c
|
APN |
8 |
120,327,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:Taf1c
|
UTSW |
8 |
120,330,975 (GRCm39) |
splice site |
probably null |
|
|
R0031:Taf1c
|
UTSW |
8 |
120,325,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0087:Taf1c
|
UTSW |
8 |
120,327,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0197:Taf1c
|
UTSW |
8 |
120,326,722 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0701:Taf1c
|
UTSW |
8 |
120,326,722 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0883:Taf1c
|
UTSW |
8 |
120,326,722 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2200:Taf1c
|
UTSW |
8 |
120,325,417 (GRCm39) |
missense |
probably benign |
|
|
R3726:Taf1c
|
UTSW |
8 |
120,329,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3765:Taf1c
|
UTSW |
8 |
120,327,224 (GRCm39) |
nonsense |
probably null |
|
|
R3916:Taf1c
|
UTSW |
8 |
120,327,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4368:Taf1c
|
UTSW |
8 |
120,326,055 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4501:Taf1c
|
UTSW |
8 |
120,326,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Taf1c
|
UTSW |
8 |
120,325,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4741:Taf1c
|
UTSW |
8 |
120,330,134 (GRCm39) |
unclassified |
probably benign |
|
|
R4938:Taf1c
|
UTSW |
8 |
120,325,537 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5481:Taf1c
|
UTSW |
8 |
120,325,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6335:Taf1c
|
UTSW |
8 |
120,328,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6517:Taf1c
|
UTSW |
8 |
120,330,986 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7083:Taf1c
|
UTSW |
8 |
120,327,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7351:Taf1c
|
UTSW |
8 |
120,325,739 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8056:Taf1c
|
UTSW |
8 |
120,330,202 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8170:Taf1c
|
UTSW |
8 |
120,329,565 (GRCm39) |
splice site |
probably null |
|
|
R8279:Taf1c
|
UTSW |
8 |
120,325,750 (GRCm39) |
missense |
probably benign |
|
|
R8382:Taf1c
|
UTSW |
8 |
120,329,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8492:Taf1c
|
UTSW |
8 |
120,325,456 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9375:Taf1c
|
UTSW |
8 |
120,325,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Taf1c
|
UTSW |
8 |
120,325,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGGTAGAAGACATCCCC -3'
(R):5'- TATAACAGGTCAGCCAGGCAG -3'
Sequencing Primer
(F):5'- TAGAAGACATCCCCGGCTG -3'
(R):5'- TCAGCCAGGCAGGTGGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation