Incidental Mutation 'IGL02075:Gtf2h1'
| ID |
185953 |
| 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: 0.969)
|
| Stock # |
IGL02075
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
46445527-46473224 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46451165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 19
(K19E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006774]
[ENSMUST00000107644]
[ENSMUST00000128420]
[ENSMUST00000165031]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006774
AA Change: K19E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000006774
Gene: ENSMUSG00000006599
AA Change: K19E
| 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 |
probably damaging
Transcript: ENSMUST00000107644
AA Change: K25E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103271
Gene: ENSMUSG00000006599
AA Change: K25E
| 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 |
probably damaging
Transcript: ENSMUST00000128420
AA Change: K19E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120008
Gene: ENSMUSG00000006599
AA Change: K19E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TFIIH_BTF_p62_N
|
9 |
51 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165031
AA Change: K25E
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129337
Gene: ENSMUSG00000006599
AA Change: K25E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TFIIH_BTF_p62_N
|
15 |
87 |
5.5e-26 |
PFAM |
|
Pfam:BSD
|
104 |
144 |
8.1e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429P17Rik |
A |
G |
13: 48,114,224 (GRCm39) |
|
noncoding transcript |
Het |
| Abcd4 |
A |
T |
12: 84,655,578 (GRCm39) |
|
probably null |
Het |
| Agrn |
A |
T |
4: 156,254,667 (GRCm39) |
M1548K |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,246,945 (GRCm39) |
S565P |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,438,537 (GRCm39) |
I126M |
probably damaging |
Het |
| Btbd9 |
G |
A |
17: 30,493,910 (GRCm39) |
R494* |
probably null |
Het |
| Coro1c |
G |
T |
5: 113,982,454 (GRCm39) |
R461S |
probably damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,077,397 (GRCm39) |
T400A |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,134,379 (GRCm39) |
Y390C |
probably benign |
Het |
| Ly75 |
G |
T |
2: 60,182,700 (GRCm39) |
S534R |
probably damaging |
Het |
| Mapk15 |
A |
G |
15: 75,866,737 (GRCm39) |
E38G |
probably benign |
Het |
| Or9i2 |
T |
A |
19: 13,815,830 (GRCm39) |
T236S |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,528,070 (GRCm39) |
N1924K |
probably benign |
Het |
| Plekhm2 |
T |
A |
4: 141,355,617 (GRCm39) |
H861L |
probably benign |
Het |
| Pramel25 |
T |
A |
4: 143,521,602 (GRCm39) |
F406Y |
probably benign |
Het |
| Rufy4 |
A |
T |
1: 74,168,518 (GRCm39) |
K100N |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,088,496 (GRCm39) |
E879G |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,803,514 (GRCm39) |
N345S |
possibly damaging |
Het |
| Tacc2 |
C |
T |
7: 130,330,582 (GRCm39) |
P1996S |
probably benign |
Het |
| Tfcp2 |
A |
G |
15: 100,411,061 (GRCm39) |
|
probably benign |
Het |
| Trpm8 |
A |
G |
1: 88,253,210 (GRCm39) |
T100A |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,765,304 (GRCm39) |
T2507A |
probably benign |
Het |
| Vmn2r118 |
T |
C |
17: 55,917,517 (GRCm39) |
T332A |
probably benign |
Het |
| Zfp189 |
T |
A |
4: 49,522,445 (GRCm39) |
D27E |
probably damaging |
Het |
|
| Other mutations in Gtf2h1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00510:Gtf2h1
|
APN |
7 |
46,468,634 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation