Incidental Mutation 'R9630:Taf4b'
| ID |
725467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taf4b
|
| Ensembl Gene |
ENSMUSG00000054321 |
| Gene Name |
TATA-box binding protein associated factor 4b |
| Synonyms |
4932409F03Rik, TAFII105, Taf2c2, 2610524B04Rik, 105kDa |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R9630 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
14916302-15033416 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 14930077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Alanine
at position 150
(P150A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169862]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169862
AA Change: P150A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: P150A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
196 |
N/A |
INTRINSIC |
|
Pfam:TAFH
|
257 |
348 |
5.3e-39 |
PFAM |
|
low complexity region
|
359 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
422 |
N/A |
INTRINSIC |
|
Pfam:TAF4
|
610 |
852 |
4e-72 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be responsible for mediating transcription by a subset of activators in B cells. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygotes for a targeted null mutation are infertile due to a granulosa cell defect preventing normal follicle formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l1 |
A |
G |
6: 48,952,756 (GRCm39) |
D227G |
probably damaging |
Het |
| Arhgap17 |
A |
G |
7: 122,907,540 (GRCm39) |
M274T |
probably benign |
Het |
| Bco2 |
T |
C |
9: 50,456,757 (GRCm39) |
T128A |
possibly damaging |
Het |
| Bcr |
T |
A |
10: 74,966,950 (GRCm39) |
L519Q |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,587,571 (GRCm39) |
S306R |
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,206,855 (GRCm39) |
E330G |
probably damaging |
Het |
| Ccdc8 |
A |
G |
7: 16,728,733 (GRCm39) |
K74R |
possibly damaging |
Het |
| Cdc42ep2 |
C |
A |
19: 5,968,363 (GRCm39) |
G114V |
|
Het |
| Celsr3 |
T |
C |
9: 108,704,296 (GRCm39) |
S260P |
probably benign |
Het |
| Clic4 |
G |
A |
4: 134,944,476 (GRCm39) |
T233I |
probably damaging |
Het |
| Clip2 |
C |
A |
5: 134,531,934 (GRCm39) |
D624Y |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,393,281 (GRCm39) |
S221P |
probably benign |
Het |
| Creb3l2 |
G |
T |
6: 37,356,808 (GRCm39) |
S86R |
possibly damaging |
Het |
| Cspp1 |
G |
A |
1: 10,108,292 (GRCm39) |
|
probably benign |
Het |
| Dusp13b |
A |
T |
14: 21,784,974 (GRCm39) |
N128K |
probably benign |
Het |
| Efnb2 |
T |
C |
8: 8,670,617 (GRCm39) |
S328G |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,518,844 (GRCm39) |
L335P |
possibly damaging |
Het |
| Eml4 |
T |
A |
17: 83,717,572 (GRCm39) |
V48D |
probably damaging |
Het |
| Fat2 |
A |
C |
11: 55,147,605 (GRCm39) |
V3879G |
probably benign |
Het |
| Fcgbpl1 |
T |
C |
7: 27,836,624 (GRCm39) |
L181P |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,926,438 (GRCm38) |
Y1827* |
probably null |
Het |
| Fuca2 |
A |
T |
10: 13,378,820 (GRCm39) |
Y71F |
probably benign |
Het |
| Gcn1 |
C |
A |
5: 115,741,349 (GRCm39) |
H1463N |
probably damaging |
Het |
| Ifitm10 |
C |
T |
7: 141,924,909 (GRCm39) |
A48T |
probably damaging |
Het |
| Iqce |
T |
C |
5: 140,666,591 (GRCm39) |
D385G |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,512,971 (GRCm39) |
|
probably null |
Het |
| Kdm7a |
A |
T |
6: 39,150,239 (GRCm39) |
S178T |
probably damaging |
Het |
| Mmp12 |
T |
A |
9: 7,347,516 (GRCm39) |
M31K |
probably benign |
Het |
| Mon2 |
C |
T |
10: 122,874,415 (GRCm39) |
R311H |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,980,341 (GRCm39) |
T1488A |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,407,988 (GRCm39) |
C3159S |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,302,470 (GRCm39) |
V346A |
probably damaging |
Het |
| Nfkbib |
A |
T |
7: 28,461,304 (GRCm39) |
Y114* |
probably null |
Het |
| Nr2c1 |
T |
A |
10: 93,998,285 (GRCm39) |
D76E |
probably benign |
Het |
| Obscn |
G |
A |
11: 58,943,397 (GRCm39) |
R4251C |
probably benign |
Het |
| Or1ak2 |
T |
C |
2: 36,827,653 (GRCm39) |
I174T |
probably damaging |
Het |
| Or4a74 |
C |
A |
2: 89,440,349 (GRCm39) |
M32I |
probably benign |
Het |
| Or5m10b |
A |
G |
2: 85,699,493 (GRCm39) |
M186V |
probably benign |
Het |
| Or6c33 |
T |
C |
10: 129,853,410 (GRCm39) |
F60S |
probably damaging |
Het |
| Or8h7 |
A |
C |
2: 86,720,956 (GRCm39) |
S188A |
probably damaging |
Het |
| Pced1a |
A |
T |
2: 130,261,109 (GRCm39) |
I416N |
probably benign |
Het |
| Pdzd2 |
G |
T |
15: 12,374,443 (GRCm39) |
D1897E |
probably benign |
Het |
| Pign |
A |
T |
1: 105,481,591 (GRCm39) |
F802I |
probably benign |
Het |
| Pik3c2g |
C |
A |
6: 139,599,237 (GRCm39) |
Q118K |
possibly damaging |
Het |
| Plcl2 |
A |
G |
17: 50,947,147 (GRCm39) |
M1009V |
probably benign |
Het |
| Ppil6 |
T |
A |
10: 41,370,550 (GRCm39) |
D59E |
probably benign |
Het |
| Rad23a |
T |
C |
8: 85,564,919 (GRCm39) |
D152G |
probably benign |
Het |
| Rif1 |
A |
G |
2: 51,979,607 (GRCm39) |
I430V |
probably damaging |
Het |
| Rint1 |
T |
C |
5: 24,020,810 (GRCm39) |
V611A |
possibly damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,596,408 (GRCm39) |
S811P |
probably benign |
Het |
| Scaf11 |
G |
A |
15: 96,316,049 (GRCm39) |
P1172S |
probably damaging |
Het |
| Sel1l3 |
T |
G |
5: 53,342,117 (GRCm39) |
N368H |
possibly damaging |
Het |
| Sele |
C |
A |
1: 163,879,523 (GRCm39) |
P352Q |
probably damaging |
Het |
| Serpinf1 |
T |
A |
11: 75,301,852 (GRCm39) |
T268S |
probably benign |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,828,722 (GRCm39) |
N1152K |
probably benign |
Het |
| Slc16a13 |
T |
C |
11: 70,108,597 (GRCm39) |
E411G |
possibly damaging |
Het |
| Slc22a23 |
T |
C |
13: 34,379,390 (GRCm39) |
N459S |
possibly damaging |
Het |
| Srpk1 |
C |
A |
17: 28,819,404 (GRCm39) |
K268N |
probably benign |
Het |
| Ssbp3 |
A |
G |
4: 106,895,426 (GRCm39) |
Y258C |
probably damaging |
Het |
| Ssc5d |
C |
T |
7: 4,939,426 (GRCm39) |
P621S |
probably damaging |
Het |
| Strada |
T |
C |
11: 106,077,781 (GRCm39) |
Q61R |
unknown |
Het |
| Strn3 |
G |
A |
12: 51,657,013 (GRCm39) |
T755I |
probably damaging |
Het |
| Tmem236 |
T |
A |
2: 14,223,815 (GRCm39) |
H201Q |
probably benign |
Het |
| Top3b |
A |
G |
16: 16,710,354 (GRCm39) |
E728G |
probably benign |
Het |
| Tshr |
C |
T |
12: 91,504,409 (GRCm39) |
P449L |
probably damaging |
Het |
| Ugt2b36 |
C |
T |
5: 87,239,773 (GRCm39) |
G204D |
possibly damaging |
Het |
| Vldlr |
A |
T |
19: 27,207,623 (GRCm39) |
Q37L |
probably damaging |
Het |
| Zfat |
A |
T |
15: 67,990,793 (GRCm39) |
I1031N |
probably benign |
Het |
|
| Other mutations in Taf4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01658:Taf4b
|
APN |
18 |
14,977,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01755:Taf4b
|
APN |
18 |
15,031,043 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01755:Taf4b
|
APN |
18 |
15,031,042 (GRCm39) |
missense |
probably benign |
|
|
IGL02049:Taf4b
|
APN |
18 |
14,963,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02650:Taf4b
|
APN |
18 |
14,975,040 (GRCm39) |
nonsense |
probably null |
|
|
IGL03078:Taf4b
|
APN |
18 |
14,946,611 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03169:Taf4b
|
APN |
18 |
14,954,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03261:Taf4b
|
APN |
18 |
14,954,585 (GRCm39) |
missense |
probably benign |
|
|
adirondack
|
UTSW |
18 |
14,937,635 (GRCm39) |
missense |
probably null |
0.16 |
|
R0266:Taf4b
|
UTSW |
18 |
14,946,134 (GRCm39) |
splice site |
probably benign |
|
|
R0385:Taf4b
|
UTSW |
18 |
14,916,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1015:Taf4b
|
UTSW |
18 |
14,946,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1054:Taf4b
|
UTSW |
18 |
14,954,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1416:Taf4b
|
UTSW |
18 |
14,954,484 (GRCm39) |
splice site |
probably benign |
|
|
R1435:Taf4b
|
UTSW |
18 |
14,940,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1609:Taf4b
|
UTSW |
18 |
14,968,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1611:Taf4b
|
UTSW |
18 |
14,977,526 (GRCm39) |
missense |
probably null |
1.00 |
|
R1906:Taf4b
|
UTSW |
18 |
14,955,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2038:Taf4b
|
UTSW |
18 |
14,940,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2890:Taf4b
|
UTSW |
18 |
14,937,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4527:Taf4b
|
UTSW |
18 |
14,954,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4559:Taf4b
|
UTSW |
18 |
14,946,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4773:Taf4b
|
UTSW |
18 |
14,937,577 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4857:Taf4b
|
UTSW |
18 |
14,937,635 (GRCm39) |
missense |
probably null |
0.16 |
|
R4946:Taf4b
|
UTSW |
18 |
14,946,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4984:Taf4b
|
UTSW |
18 |
14,968,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4994:Taf4b
|
UTSW |
18 |
15,031,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5010:Taf4b
|
UTSW |
18 |
14,955,229 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5155:Taf4b
|
UTSW |
18 |
14,963,152 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5874:Taf4b
|
UTSW |
18 |
14,937,611 (GRCm39) |
missense |
probably benign |
|
|
R6079:Taf4b
|
UTSW |
18 |
14,955,255 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6303:Taf4b
|
UTSW |
18 |
14,940,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6304:Taf4b
|
UTSW |
18 |
14,940,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6372:Taf4b
|
UTSW |
18 |
14,937,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6972:Taf4b
|
UTSW |
18 |
14,946,404 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7538:Taf4b
|
UTSW |
18 |
14,946,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7790:Taf4b
|
UTSW |
18 |
14,946,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8021:Taf4b
|
UTSW |
18 |
14,937,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8072:Taf4b
|
UTSW |
18 |
14,954,585 (GRCm39) |
missense |
probably benign |
|
|
R8075:Taf4b
|
UTSW |
18 |
14,916,749 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8145:Taf4b
|
UTSW |
18 |
14,963,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8221:Taf4b
|
UTSW |
18 |
15,031,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8320:Taf4b
|
UTSW |
18 |
14,916,749 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8509:Taf4b
|
UTSW |
18 |
15,031,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8535:Taf4b
|
UTSW |
18 |
14,955,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8772:Taf4b
|
UTSW |
18 |
14,968,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Taf4b
|
UTSW |
18 |
14,946,485 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8874:Taf4b
|
UTSW |
18 |
14,963,127 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9155:Taf4b
|
UTSW |
18 |
14,946,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9254:Taf4b
|
UTSW |
18 |
14,946,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9338:Taf4b
|
UTSW |
18 |
14,954,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9379:Taf4b
|
UTSW |
18 |
14,946,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9686:Taf4b
|
UTSW |
18 |
14,932,215 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9801:Taf4b
|
UTSW |
18 |
14,932,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGTGTTGAAATGGGAAAC -3'
(R):5'- GTCACTTAGTATGAAGGCACAAC -3'
Sequencing Primer
(F):5'- AACAACAGTGTGCGATGTTTG -3'
(R):5'- GAAGGCACAACTTTCATTATTTTAGC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation