Incidental Mutation 'IGL01108:Gtf2h1'
ID |
51557 |
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 # |
IGL01108
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
46445527-46473224 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 46461922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 307
(A307T)
|
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: A301T
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000006774 Gene: ENSMUSG00000006599 AA Change: A301T
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: A307T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103271 Gene: ENSMUSG00000006599 AA Change: A307T
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 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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asah2 |
A |
G |
19: 31,986,081 (GRCm39) |
|
probably benign |
Het |
Baz1a |
A |
G |
12: 54,963,516 (GRCm39) |
I856T |
probably benign |
Het |
Cblb |
T |
A |
16: 51,867,814 (GRCm39) |
|
probably null |
Het |
Cpq |
A |
G |
15: 33,497,433 (GRCm39) |
Q391R |
probably benign |
Het |
Dnah9 |
T |
A |
11: 65,740,806 (GRCm39) |
T4127S |
possibly damaging |
Het |
Dync2h1 |
A |
G |
9: 7,176,771 (GRCm39) |
S63P |
possibly damaging |
Het |
Ercc3 |
T |
C |
18: 32,397,638 (GRCm39) |
V623A |
probably damaging |
Het |
Fbxw9 |
A |
G |
8: 85,792,606 (GRCm39) |
|
probably benign |
Het |
Gorasp2 |
T |
A |
2: 70,508,922 (GRCm39) |
S133R |
probably damaging |
Het |
Hk1 |
T |
C |
10: 62,132,487 (GRCm39) |
K186R |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,664,903 (GRCm39) |
E596G |
probably benign |
Het |
Kcnj13 |
T |
C |
1: 87,314,659 (GRCm39) |
I188V |
probably benign |
Het |
Klhl18 |
A |
T |
9: 110,257,754 (GRCm39) |
M492K |
probably damaging |
Het |
Mctp2 |
T |
C |
7: 71,835,563 (GRCm39) |
T545A |
probably damaging |
Het |
Mgrn1 |
G |
T |
16: 4,734,019 (GRCm39) |
|
probably null |
Het |
Mideas |
T |
C |
12: 84,220,465 (GRCm39) |
E163G |
probably damaging |
Het |
Olfm4 |
T |
C |
14: 80,259,339 (GRCm39) |
V529A |
probably benign |
Het |
Or13f5 |
C |
T |
4: 52,825,727 (GRCm39) |
T110I |
probably damaging |
Het |
Parp4 |
T |
G |
14: 56,844,897 (GRCm39) |
I596S |
probably benign |
Het |
Plppr3 |
T |
A |
10: 79,703,355 (GRCm39) |
D43V |
probably damaging |
Het |
Prss51 |
A |
T |
14: 64,333,433 (GRCm39) |
K14I |
probably damaging |
Het |
Prss58 |
A |
G |
6: 40,874,278 (GRCm39) |
C133R |
probably damaging |
Het |
Recql5 |
A |
T |
11: 115,788,007 (GRCm39) |
N437K |
probably benign |
Het |
Samd10 |
A |
G |
2: 181,239,007 (GRCm39) |
Y135H |
probably damaging |
Het |
Scnn1b |
G |
T |
7: 121,513,555 (GRCm39) |
|
probably null |
Het |
Serpina7 |
C |
T |
X: 137,983,886 (GRCm39) |
V58I |
probably benign |
Het |
Slf1 |
A |
T |
13: 77,273,594 (GRCm39) |
|
probably benign |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Urb1 |
C |
T |
16: 90,589,702 (GRCm39) |
A360T |
probably damaging |
Het |
Ush2a |
G |
T |
1: 188,595,022 (GRCm39) |
R3818L |
probably benign |
Het |
Vmn2r57 |
C |
T |
7: 41,077,008 (GRCm39) |
R386K |
probably benign |
Het |
Wnt3a |
T |
C |
11: 59,147,135 (GRCm39) |
N184D |
probably benign |
Het |
Xpc |
G |
A |
6: 91,469,987 (GRCm39) |
R746W |
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 |
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 |
2013-06-21 |