Incidental Mutation 'IGL01475:Gtf2h2'
| ID |
88412 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gtf2h2
|
| Ensembl Gene |
ENSMUSG00000021639 |
| Gene Name |
general transcription factor II H, polypeptide 2 |
| Synonyms |
Btf2p44, 44kDa, basal transcription factor 2, p44 subunit, p44 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01475
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
100596726-100629087 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100617541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 207
(V207D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066940]
[ENSMUST00000066984]
[ENSMUST00000134842]
[ENSMUST00000145266]
|
| AlphaFold |
Q9JIB4 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000066940
|
| SMART Domains |
Protein: ENSMUSP00000064590
Gene: ENSMUSG00000021639
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VWA_2
|
60 |
166 |
5e-9 |
PFAM |
|
Pfam:Ssl1
|
64 |
166 |
1.1e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066984
AA Change: V207D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065228
Gene: ENSMUSG00000021639
AA Change: V207D
| Domain | Start | End | E-Value | Type |
|---|
|
VWA
|
58 |
240 |
1.02e-14 |
SMART |
|
Blast:BIR
|
291 |
310 |
6e-7 |
BLAST |
|
C1_4
|
345 |
388 |
3.13e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124698
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134842
|
| SMART Domains |
Protein: ENSMUSP00000138748
Gene: ENSMUSG00000021639
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ssl1
|
64 |
139 |
2.4e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142182
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145266
AA Change: V207D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138108
Gene: ENSMUSG00000021639
AA Change: V207D
| Domain | Start | End | E-Value | Type |
|---|
|
VWA
|
58 |
240 |
1.02e-14 |
SMART |
|
Blast:BIR
|
291 |
310 |
6e-7 |
BLAST |
|
C1_4
|
345 |
388 |
3.13e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232450
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
A |
T |
14: 59,380,252 (GRCm39) |
N15K |
possibly damaging |
Het |
| Adam32 |
A |
T |
8: 25,362,664 (GRCm39) |
I587K |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,584,843 (GRCm39) |
S942G |
probably benign |
Het |
| Adamtsl5 |
A |
G |
10: 80,180,750 (GRCm39) |
F104S |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,761,245 (GRCm39) |
D980G |
probably benign |
Het |
| Apba1 |
A |
T |
19: 23,894,950 (GRCm39) |
D462V |
possibly damaging |
Het |
| Arhgef11 |
T |
C |
3: 87,634,433 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
T |
C |
18: 60,943,393 (GRCm39) |
|
probably benign |
Het |
| Cdc16 |
T |
C |
8: 13,831,542 (GRCm39) |
S592P |
probably benign |
Het |
| Cenpj |
A |
G |
14: 56,802,502 (GRCm39) |
M21T |
possibly damaging |
Het |
| Col28a1 |
A |
G |
6: 8,103,521 (GRCm39) |
L425S |
probably damaging |
Het |
| Dbt |
C |
T |
3: 116,313,908 (GRCm39) |
T25I |
possibly damaging |
Het |
| Dguok |
C |
A |
6: 83,467,552 (GRCm39) |
M98I |
possibly damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,004,781 (GRCm39) |
L943P |
probably damaging |
Het |
| Eloa |
G |
A |
4: 135,738,231 (GRCm39) |
S243L |
probably benign |
Het |
| Enkur |
C |
A |
2: 21,201,530 (GRCm39) |
A52S |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,083,787 (GRCm39) |
E744G |
probably damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,672,101 (GRCm39) |
S190P |
possibly damaging |
Het |
| Foxb1 |
G |
A |
9: 69,666,550 (GRCm39) |
|
probably benign |
Het |
| Gabra5 |
C |
T |
7: 57,058,432 (GRCm39) |
G439S |
probably damaging |
Het |
| Hoatz |
A |
G |
9: 51,011,358 (GRCm39) |
I93T |
probably benign |
Het |
| Krt76 |
A |
G |
15: 101,796,948 (GRCm39) |
V317A |
probably benign |
Het |
| Lair1 |
C |
A |
7: 4,012,683 (GRCm39) |
|
probably benign |
Het |
| Lrit2 |
T |
A |
14: 36,791,051 (GRCm39) |
H243Q |
probably damaging |
Het |
| Mast3 |
C |
T |
8: 71,232,174 (GRCm39) |
A1268T |
probably damaging |
Het |
| Matn2 |
G |
A |
15: 34,316,671 (GRCm39) |
M4I |
possibly damaging |
Het |
| Mob1b |
T |
A |
5: 88,897,502 (GRCm39) |
F137I |
probably damaging |
Het |
| Mreg |
T |
C |
1: 72,203,325 (GRCm39) |
|
probably benign |
Het |
| Nom1 |
T |
C |
5: 29,651,272 (GRCm39) |
V684A |
possibly damaging |
Het |
| Pate2 |
T |
A |
9: 35,580,998 (GRCm39) |
L1Q |
probably null |
Het |
| Pla2r1 |
T |
C |
2: 60,271,425 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,331,870 (GRCm39) |
F447L |
possibly damaging |
Het |
| Pno1 |
A |
T |
11: 17,160,992 (GRCm39) |
I114N |
probably damaging |
Het |
| Ppp1r7 |
T |
G |
1: 93,288,540 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
T |
A |
19: 46,059,968 (GRCm39) |
Y1503N |
probably benign |
Het |
| Rab30 |
T |
C |
7: 92,484,930 (GRCm39) |
V132A |
probably damaging |
Het |
| Slc15a4 |
T |
C |
5: 127,679,024 (GRCm39) |
T439A |
probably benign |
Het |
| Slc29a3 |
A |
G |
10: 60,559,596 (GRCm39) |
V186A |
possibly damaging |
Het |
| Stxbp5l |
G |
A |
16: 37,165,454 (GRCm39) |
T88I |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,160,701 (GRCm39) |
V1250A |
probably benign |
Het |
| Tcte2 |
A |
T |
17: 13,937,824 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,100,800 (GRCm39) |
|
probably null |
Het |
| Trpc4 |
A |
T |
3: 54,173,828 (GRCm39) |
L407F |
possibly damaging |
Het |
| Vmn1r6 |
T |
C |
6: 56,979,896 (GRCm39) |
F164S |
probably damaging |
Het |
| Zfp579 |
C |
A |
7: 4,997,743 (GRCm39) |
R56L |
probably benign |
Het |
|
| Other mutations in Gtf2h2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Gtf2h2
|
APN |
13 |
100,617,506 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00780:Gtf2h2
|
APN |
13 |
100,615,729 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02298:Gtf2h2
|
APN |
13 |
100,617,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02754:Gtf2h2
|
APN |
13 |
100,617,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0602:Gtf2h2
|
UTSW |
13 |
100,605,533 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0621:Gtf2h2
|
UTSW |
13 |
100,625,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0665:Gtf2h2
|
UTSW |
13 |
100,617,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Gtf2h2
|
UTSW |
13 |
100,605,523 (GRCm39) |
nonsense |
probably null |
|
|
R4810:Gtf2h2
|
UTSW |
13 |
100,617,510 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5262:Gtf2h2
|
UTSW |
13 |
100,618,356 (GRCm39) |
unclassified |
probably benign |
|
|
R5548:Gtf2h2
|
UTSW |
13 |
100,617,544 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5741:Gtf2h2
|
UTSW |
13 |
100,617,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6802:Gtf2h2
|
UTSW |
13 |
100,617,051 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7256:Gtf2h2
|
UTSW |
13 |
100,615,709 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8355:Gtf2h2
|
UTSW |
13 |
100,605,503 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9139:Gtf2h2
|
UTSW |
13 |
100,617,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation