Incidental Mutation 'IGL00510:Gtf2h1'
| ID |
5244 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gtf2h1
|
| Ensembl Gene |
ENSMUSG00000006599 |
| Gene Name |
general transcription factor II H, polypeptide 1 |
| Synonyms |
p62, 62kDa |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
IGL00510
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
46445527-46473224 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 46468634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 524
(T524I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006774]
[ENSMUST00000107644]
[ENSMUST00000128420]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006774
AA Change: T518I
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000006774
Gene: ENSMUSG00000006599
AA Change: T518I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TFIIH_BTF_p62_N
|
9 |
81 |
6.8e-25 |
PFAM |
|
BSD
|
99 |
154 |
8.89e-11 |
SMART |
|
BSD
|
179 |
231 |
2.09e-16 |
SMART |
|
low complexity region
|
417 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107644
AA Change: T524I
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103271
Gene: ENSMUSG00000006599
AA Change: T524I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PH_TFIIH
|
22 |
103 |
8.5e-29 |
PFAM |
|
BSD
|
105 |
160 |
8.89e-11 |
SMART |
|
BSD
|
185 |
237 |
2.09e-16 |
SMART |
|
low complexity region
|
423 |
440 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119337
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128420
|
| SMART Domains |
Protein: ENSMUSP00000120008
Gene: ENSMUSG00000006599
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TFIIH_BTF_p62_N
|
9 |
51 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144708
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
A |
G |
3: 137,995,668 (GRCm39) |
N357S |
probably damaging |
Het |
| Akap4 |
A |
G |
X: 6,942,863 (GRCm39) |
T389A |
probably damaging |
Het |
| Aldh3a1 |
A |
G |
11: 61,104,422 (GRCm39) |
E103G |
probably damaging |
Het |
| Aldh3b3 |
C |
A |
19: 4,015,863 (GRCm39) |
Q278K |
probably benign |
Het |
| Ap3m2 |
A |
T |
8: 23,287,243 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
G |
T |
18: 22,656,622 (GRCm39) |
C1544F |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,801,404 (GRCm39) |
D716G |
probably damaging |
Het |
| Dennd1b |
G |
T |
1: 139,029,809 (GRCm39) |
R322L |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,540,701 (GRCm39) |
V2558M |
probably damaging |
Het |
| Fbp2 |
T |
C |
13: 62,989,698 (GRCm39) |
I203V |
possibly damaging |
Het |
| Gnai1 |
T |
A |
5: 18,496,617 (GRCm39) |
D102V |
probably benign |
Het |
| Hinfp |
G |
A |
9: 44,209,063 (GRCm39) |
R352C |
probably damaging |
Het |
| Lpin1 |
G |
A |
12: 16,603,993 (GRCm39) |
H613Y |
probably benign |
Het |
| Med29 |
C |
T |
7: 28,090,266 (GRCm39) |
A110T |
possibly damaging |
Het |
| Myo9a |
T |
C |
9: 59,739,464 (GRCm39) |
|
probably benign |
Het |
| Nlgn1 |
G |
T |
3: 25,490,654 (GRCm39) |
P329T |
probably benign |
Het |
| Osmr |
G |
T |
15: 6,853,112 (GRCm39) |
Y593* |
probably null |
Het |
| Otx2 |
T |
C |
14: 48,896,192 (GRCm39) |
T289A |
probably benign |
Het |
| Pkn2 |
T |
C |
3: 142,504,780 (GRCm39) |
T799A |
probably damaging |
Het |
| Plcb1 |
T |
A |
2: 135,093,676 (GRCm39) |
V163D |
possibly damaging |
Het |
| Rgs3 |
G |
A |
4: 62,619,417 (GRCm39) |
A501T |
possibly damaging |
Het |
| Rnf103 |
T |
C |
6: 71,486,733 (GRCm39) |
S455P |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,360,002 (GRCm39) |
T19A |
probably benign |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Spryd7 |
T |
A |
14: 61,783,190 (GRCm39) |
N111Y |
probably damaging |
Het |
| Zfp687 |
A |
G |
3: 94,915,758 (GRCm39) |
S1005P |
probably damaging |
Het |
|
| Other mutations in Gtf2h1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01108:Gtf2h1
|
APN |
7 |
46,461,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02054:Gtf2h1
|
APN |
7 |
46,464,849 (GRCm39) |
splice site |
probably benign |
|
|
IGL02075:Gtf2h1
|
APN |
7 |
46,451,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02309:Gtf2h1
|
APN |
7 |
46,465,812 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02423:Gtf2h1
|
APN |
7 |
46,464,824 (GRCm39) |
missense |
probably benign |
|
|
IGL02481:Gtf2h1
|
APN |
7 |
46,454,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03159:Gtf2h1
|
APN |
7 |
46,456,167 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0136:Gtf2h1
|
UTSW |
7 |
46,464,840 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1073:Gtf2h1
|
UTSW |
7 |
46,466,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1242:Gtf2h1
|
UTSW |
7 |
46,462,175 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1469:Gtf2h1
|
UTSW |
7 |
46,454,549 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1469:Gtf2h1
|
UTSW |
7 |
46,454,549 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1740:Gtf2h1
|
UTSW |
7 |
46,461,890 (GRCm39) |
missense |
probably null |
|
|
R2192:Gtf2h1
|
UTSW |
7 |
46,464,747 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3012:Gtf2h1
|
UTSW |
7 |
46,453,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4238:Gtf2h1
|
UTSW |
7 |
46,454,489 (GRCm39) |
missense |
probably benign |
|
|
R4239:Gtf2h1
|
UTSW |
7 |
46,454,489 (GRCm39) |
missense |
probably benign |
|
|
R4715:Gtf2h1
|
UTSW |
7 |
46,464,836 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4776:Gtf2h1
|
UTSW |
7 |
46,472,302 (GRCm39) |
nonsense |
probably null |
|
|
R6193:Gtf2h1
|
UTSW |
7 |
46,456,254 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6338:Gtf2h1
|
UTSW |
7 |
46,465,880 (GRCm39) |
missense |
probably benign |
|
|
R6556:Gtf2h1
|
UTSW |
7 |
46,458,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7102:Gtf2h1
|
UTSW |
7 |
46,468,550 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8232:Gtf2h1
|
UTSW |
7 |
46,451,103 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8273:Gtf2h1
|
UTSW |
7 |
46,454,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8414:Gtf2h1
|
UTSW |
7 |
46,464,768 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9006:Gtf2h1
|
UTSW |
7 |
46,458,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9545:Gtf2h1
|
UTSW |
7 |
46,458,112 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9602:Gtf2h1
|
UTSW |
7 |
46,456,219 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
RF021:Gtf2h1
|
UTSW |
7 |
46,453,289 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2012-04-20 |
Incidental Mutation