Incidental Mutation 'R4281:Gtf2a1l'
| ID |
322914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf2a1l
|
| Ensembl Gene |
ENSMUSG00000024154 |
| Gene Name |
general transcription factor IIA, 1-like |
| Synonyms |
Gtf2a1lf, 1700011N16Rik, Alf |
| MMRRC Submission |
041649-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.586)
|
| Stock # |
R4281 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
88976088-89022580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89019065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 383
(N383S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024970]
|
| AlphaFold |
Q8R4I4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024970
AA Change: N383S
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000024970
Gene: ENSMUSG00000024154
AA Change: N383S
| Domain | Start | End | E-Value | Type |
|---|
|
TFIIA
|
9 |
468 |
6.87e-202 |
SMART |
|
| Meta Mutation Damage Score |
0.0961 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
92% (44/48) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| B9d2 |
A |
G |
7: 25,380,851 (GRCm39) |
T14A |
possibly damaging |
Het |
| Cavin3 |
A |
C |
7: 105,130,981 (GRCm39) |
|
probably null |
Het |
| Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
| Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,252,378 (GRCm39) |
H429Q |
probably benign |
Het |
| Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
| Evc2 |
T |
C |
5: 37,495,938 (GRCm39) |
V16A |
probably benign |
Het |
| Fam210b |
T |
C |
2: 172,193,468 (GRCm39) |
Y94H |
probably damaging |
Het |
| Gimap8 |
A |
C |
6: 48,635,754 (GRCm39) |
R506S |
probably benign |
Het |
| Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Gsn |
A |
G |
2: 35,188,883 (GRCm39) |
Y434C |
probably damaging |
Het |
| Hepacam2 |
G |
A |
6: 3,475,938 (GRCm39) |
T329I |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,006,167 (GRCm39) |
V526A |
probably benign |
Het |
| Magea14 |
T |
C |
X: 51,057,867 (GRCm39) |
Y273C |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,167,371 (GRCm39) |
K456R |
probably benign |
Het |
| Nox4 |
A |
G |
7: 86,946,732 (GRCm39) |
I143V |
possibly damaging |
Het |
| Or11h7 |
T |
C |
14: 50,891,029 (GRCm39) |
C112R |
probably benign |
Het |
| Or12j3 |
A |
G |
7: 139,953,385 (GRCm39) |
I46T |
probably benign |
Het |
| Pcdh18 |
A |
G |
3: 49,710,982 (GRCm39) |
L111P |
possibly damaging |
Het |
| Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
| Pnpla6 |
T |
C |
8: 3,571,513 (GRCm39) |
L148P |
probably damaging |
Het |
| Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,623,963 (GRCm39) |
|
probably null |
Het |
| Rars1 |
T |
C |
11: 35,712,051 (GRCm39) |
E275G |
probably damaging |
Het |
| Rasa3 |
A |
G |
8: 13,638,946 (GRCm39) |
V287A |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,865,404 (GRCm39) |
R641Q |
possibly damaging |
Het |
| Slco6b1 |
A |
G |
1: 96,925,115 (GRCm39) |
|
noncoding transcript |
Het |
| Sned1 |
A |
T |
1: 93,213,577 (GRCm39) |
R426* |
probably null |
Het |
| Tmem132a |
C |
G |
19: 10,839,090 (GRCm39) |
E451Q |
possibly damaging |
Het |
| Tmem229b-ps |
A |
G |
10: 53,351,474 (GRCm39) |
|
noncoding transcript |
Het |
| Trim33 |
T |
A |
3: 103,236,402 (GRCm39) |
V504D |
probably damaging |
Het |
| Usp47 |
A |
T |
7: 111,709,200 (GRCm39) |
E1315D |
probably benign |
Het |
| Zbtb24 |
T |
C |
10: 41,340,916 (GRCm39) |
S649P |
probably benign |
Het |
| Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
Het |
| Zfp612 |
A |
G |
8: 110,816,691 (GRCm39) |
I594V |
probably damaging |
Het |
| Zfp692 |
T |
C |
11: 58,205,091 (GRCm39) |
F447L |
probably damaging |
Het |
| Zranb3 |
A |
C |
1: 127,891,614 (GRCm39) |
S787R |
possibly 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 |
|
R4289:Gtf2a1l
|
UTSW |
17 |
89,001,884 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- AGGGATCTGAATATTCGGGTAAC -3'
(R):5'- AGTTTAAATGTTAAGGGCCCTGC -3'
Sequencing Primer
(F):5'- AACCGGCGATAACTCTTC -3'
(R):5'- TGTTAAGGGCCCTGCATACAAATAAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation