Incidental Mutation 'R4289:Gtf2a1l'
| ID |
322359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf2a1l
|
| Ensembl Gene |
ENSMUSG00000024154 |
| Gene Name |
general transcription factor IIA, 1-like |
| Synonyms |
Gtf2a1lf, 1700011N16Rik, Alf |
| MMRRC Submission |
041654-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.586)
|
| Stock # |
R4289 (G1)
|
| Quality Score |
210 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
88976088-89022580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89001884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 200
(T200A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024970]
[ENSMUST00000161481]
|
| AlphaFold |
Q8R4I4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024970
AA Change: T247A
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000024970
Gene: ENSMUSG00000024154
AA Change: T247A
| Domain | Start | End | E-Value | Type |
|---|
|
TFIIA
|
9 |
468 |
6.87e-202 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161481
AA Change: T200A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124286
Gene: ENSMUSG00000024154
AA Change: T200A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TFIIA
|
9 |
76 |
3.2e-29 |
PFAM |
|
Pfam:TFIIA
|
70 |
243 |
3e-13 |
PFAM |
|
| Meta Mutation Damage Score |
0.1946 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (TFIIA) on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Mar 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
C |
T |
3: 32,766,263 (GRCm39) |
T39M |
possibly damaging |
Het |
| Arhgdib |
T |
C |
6: 136,901,156 (GRCm39) |
N191S |
probably benign |
Het |
| Arhgef39 |
A |
G |
4: 43,497,353 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
G |
A |
12: 54,947,233 (GRCm39) |
R1139C |
probably damaging |
Het |
| Cdhr5 |
A |
T |
7: 140,852,752 (GRCm39) |
I78N |
probably damaging |
Het |
| Cfap97 |
T |
A |
8: 46,645,698 (GRCm39) |
N525K |
probably benign |
Het |
| Cntn2 |
T |
A |
1: 132,455,481 (GRCm39) |
Y252F |
probably benign |
Het |
| Cyp3a57 |
G |
A |
5: 145,286,207 (GRCm39) |
G48S |
probably damaging |
Het |
| Cyp4v3 |
A |
C |
8: 45,781,260 (GRCm39) |
F73V |
possibly damaging |
Het |
| Ear10 |
T |
C |
14: 44,160,404 (GRCm39) |
D141G |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,168,411 (GRCm39) |
I2309V |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,349,531 (GRCm39) |
D102G |
probably benign |
Het |
| Fdxacb1 |
A |
T |
9: 50,683,879 (GRCm39) |
Q614L |
probably damaging |
Het |
| Gm10267 |
T |
C |
18: 44,290,331 (GRCm39) |
T59A |
probably damaging |
Het |
| Gm5581 |
C |
T |
6: 131,144,519 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
G |
T |
7: 40,808,336 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ift122 |
T |
C |
6: 115,900,852 (GRCm39) |
C1057R |
probably damaging |
Het |
| Kirrel3 |
A |
T |
9: 34,934,769 (GRCm39) |
N73I |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,490,798 (GRCm39) |
I433M |
probably benign |
Het |
| Mks1 |
T |
C |
11: 87,747,530 (GRCm39) |
|
probably benign |
Het |
| Mmp14 |
A |
T |
14: 54,673,665 (GRCm39) |
K110* |
probably null |
Het |
| Mms19 |
A |
G |
19: 41,933,992 (GRCm39) |
L938P |
probably damaging |
Het |
| Mrpl36 |
A |
T |
13: 73,479,777 (GRCm39) |
|
probably null |
Het |
| Mypn |
T |
C |
10: 62,966,961 (GRCm39) |
E905G |
probably damaging |
Het |
| Ncam1 |
G |
T |
9: 49,468,472 (GRCm39) |
T329N |
probably damaging |
Het |
| Nfkbie |
T |
C |
17: 45,869,516 (GRCm39) |
L157P |
probably damaging |
Het |
| Or14c45 |
T |
A |
7: 86,176,262 (GRCm39) |
I99N |
probably damaging |
Het |
| Or4f47 |
T |
A |
2: 111,972,319 (GRCm39) |
S10T |
probably benign |
Het |
| Pappa |
C |
T |
4: 65,074,100 (GRCm39) |
A218V |
probably benign |
Het |
| Plekhg5 |
T |
C |
4: 152,196,884 (GRCm39) |
Y737H |
probably benign |
Het |
| Plod2 |
G |
A |
9: 92,485,041 (GRCm39) |
R514Q |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,943,420 (GRCm39) |
R1888W |
probably damaging |
Het |
| Prss45 |
A |
G |
9: 110,669,997 (GRCm39) |
T269A |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,681,151 (GRCm39) |
T784A |
probably damaging |
Het |
| Pycr3 |
T |
C |
15: 75,790,655 (GRCm39) |
N68S |
probably benign |
Het |
| Rbis |
T |
C |
3: 14,674,714 (GRCm39) |
M1V |
probably null |
Het |
| Rdh14 |
A |
T |
12: 10,444,949 (GRCm39) |
N267Y |
probably benign |
Het |
| Rph3a |
G |
A |
5: 121,111,368 (GRCm39) |
R71C |
probably damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,928,523 (GRCm39) |
V27E |
probably damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,417,771 (GRCm39) |
S312T |
probably damaging |
Het |
| Tcp11l2 |
T |
C |
10: 84,440,937 (GRCm39) |
|
probably null |
Het |
| Trdn |
C |
T |
10: 33,340,578 (GRCm39) |
S604L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,640,742 (GRCm39) |
T13669A |
probably benign |
Het |
| Tyw3 |
A |
T |
3: 154,302,645 (GRCm39) |
F30I |
probably damaging |
Het |
| Vmn1r227 |
G |
T |
17: 20,956,092 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r74 |
C |
T |
7: 85,606,562 (GRCm39) |
M261I |
probably benign |
Het |
| Zfp217 |
C |
T |
2: 169,956,707 (GRCm39) |
G764S |
probably benign |
Het |
| Zfp267 |
A |
G |
3: 36,213,747 (GRCm39) |
N27S |
possibly damaging |
Het |
| Zfp748 |
T |
A |
13: 67,689,202 (GRCm39) |
H686L |
probably damaging |
Het |
|
| Other mutations in Gtf2a1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00565:Gtf2a1l
|
APN |
17 |
89,001,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00928:Gtf2a1l
|
APN |
17 |
89,001,890 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL00974:Gtf2a1l
|
APN |
17 |
89,022,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01024:Gtf2a1l
|
APN |
17 |
88,978,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02429:Gtf2a1l
|
APN |
17 |
88,976,141 (GRCm39) |
start codon destroyed |
probably null |
0.61 |
|
IGL02658:Gtf2a1l
|
APN |
17 |
88,976,146 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03377:Gtf2a1l
|
APN |
17 |
89,019,021 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0848:Gtf2a1l
|
UTSW |
17 |
89,001,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0899:Gtf2a1l
|
UTSW |
17 |
88,976,152 (GRCm39) |
missense |
|
|
|
R1435:Gtf2a1l
|
UTSW |
17 |
89,001,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Gtf2a1l
|
UTSW |
17 |
89,002,008 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1861:Gtf2a1l
|
UTSW |
17 |
89,022,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2301:Gtf2a1l
|
UTSW |
17 |
89,018,900 (GRCm39) |
missense |
probably benign |
|
|
R2906:Gtf2a1l
|
UTSW |
17 |
89,002,083 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4281:Gtf2a1l
|
UTSW |
17 |
89,019,065 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4771:Gtf2a1l
|
UTSW |
17 |
88,997,448 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4904:Gtf2a1l
|
UTSW |
17 |
88,997,471 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4941:Gtf2a1l
|
UTSW |
17 |
89,022,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5106:Gtf2a1l
|
UTSW |
17 |
89,002,073 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6003:Gtf2a1l
|
UTSW |
17 |
89,001,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Gtf2a1l
|
UTSW |
17 |
89,018,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6035:Gtf2a1l
|
UTSW |
17 |
89,018,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6128:Gtf2a1l
|
UTSW |
17 |
89,002,086 (GRCm39) |
missense |
probably null |
0.94 |
|
R6246:Gtf2a1l
|
UTSW |
17 |
88,978,975 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6481:Gtf2a1l
|
UTSW |
17 |
89,019,053 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7344:Gtf2a1l
|
UTSW |
17 |
89,001,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7462:Gtf2a1l
|
UTSW |
17 |
89,001,566 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8712:Gtf2a1l
|
UTSW |
17 |
89,022,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8849:Gtf2a1l
|
UTSW |
17 |
89,001,566 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9178:Gtf2a1l
|
UTSW |
17 |
88,976,152 (GRCm39) |
missense |
|
|
|
R9407:Gtf2a1l
|
UTSW |
17 |
89,001,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9569:Gtf2a1l
|
UTSW |
17 |
89,001,948 (GRCm39) |
missense |
probably benign |
|
|
R9760:Gtf2a1l
|
UTSW |
17 |
89,019,020 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAATGGAAGCTGTGCTGC -3'
(R):5'- GAAGCCCTACCTTCTCTGAC -3'
Sequencing Primer
(F):5'- TGTGCTGCAGCCACCTC -3'
(R):5'- TCTGACACACGGAGGCTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation