Incidental Mutation 'IGL03159:Gtf2h1'
| ID |
411351 |
| 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 # |
IGL03159
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
46445527-46473224 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46456167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 179
(V179A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006774]
[ENSMUST00000107644]
[ENSMUST00000128420]
[ENSMUST00000165031]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006774
AA Change: V173A
PolyPhen 2
Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000006774
Gene: ENSMUSG00000006599
AA Change: V173A
| 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: V179A
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103271
Gene: ENSMUSG00000006599
AA Change: V179A
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165031
|
| SMART Domains |
Protein: ENSMUSP00000129337
Gene: ENSMUSG00000006599
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
T |
A |
13: 104,580,723 (GRCm39) |
M812K |
probably damaging |
Het |
| Ctnnal1 |
G |
A |
4: 56,844,599 (GRCm39) |
R122W |
probably benign |
Het |
| Cyp2j7 |
A |
G |
4: 96,115,749 (GRCm39) |
|
probably benign |
Het |
| Defa29 |
A |
G |
8: 21,816,978 (GRCm39) |
V5A |
possibly damaging |
Het |
| Defb22 |
A |
G |
2: 152,331,995 (GRCm39) |
F13L |
probably benign |
Het |
| Gmds |
C |
A |
13: 32,003,934 (GRCm39) |
D362Y |
probably damaging |
Het |
| Idh3b |
T |
A |
2: 130,126,321 (GRCm39) |
N6I |
probably benign |
Het |
| Kcnk7 |
T |
C |
19: 5,756,116 (GRCm39) |
L114P |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,495,328 (GRCm39) |
|
probably benign |
Het |
| Mfsd3 |
A |
G |
15: 76,587,101 (GRCm39) |
T285A |
probably benign |
Het |
| Or5g27 |
A |
G |
2: 85,410,284 (GRCm39) |
R234G |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,084,498 (GRCm39) |
M321T |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,051,372 (GRCm39) |
N185K |
probably benign |
Het |
| Smo |
A |
G |
6: 29,758,504 (GRCm39) |
R550G |
probably benign |
Het |
| Tbc1d31 |
T |
G |
15: 57,783,444 (GRCm39) |
|
probably null |
Het |
| Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,404,162 (GRCm39) |
F10I |
probably benign |
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation