Incidental Mutation 'R8232:Gtf2h1'
| ID |
637177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf2h1
|
| Ensembl Gene |
ENSMUSG00000006599 |
| Gene Name |
general transcription factor II H, polypeptide 1 |
| Synonyms |
p62, 62kDa |
| MMRRC Submission |
067664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R8232 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
46445527-46473224 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46451103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 4
(I4K)
|
| 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 |
probably benign
Transcript: ENSMUST00000006774
|
| SMART Domains |
Protein: ENSMUSP00000006774
Gene: ENSMUSG00000006599
| 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 benign
Transcript: ENSMUST00000107644
AA Change: I4K
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000103271
Gene: ENSMUSG00000006599
AA Change: I4K
| 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 |
probably benign
Transcript: ENSMUST00000165031
AA Change: I4K
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000129337
Gene: ENSMUSG00000006599
AA Change: I4K
| 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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
A |
T |
4: 49,450,817 (GRCm39) |
M98K |
probably damaging |
Het |
| Actn3 |
A |
T |
19: 4,921,683 (GRCm39) |
W166R |
probably damaging |
Het |
| Adamts16 |
C |
A |
13: 70,941,217 (GRCm39) |
C390F |
probably damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,168,198 (GRCm39) |
D727V |
probably damaging |
Het |
| Bcr |
A |
G |
10: 75,001,883 (GRCm39) |
Y929C |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,757,329 (GRCm39) |
Y50F |
probably damaging |
Het |
| Camta2 |
G |
A |
11: 70,573,841 (GRCm39) |
R171C |
unknown |
Het |
| Ccnd2 |
A |
G |
6: 127,127,549 (GRCm39) |
L63P |
probably damaging |
Het |
| Clip1 |
G |
C |
5: 123,785,981 (GRCm39) |
D234E |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,746,149 (GRCm39) |
I3988N |
possibly damaging |
Het |
| Frmpd2 |
T |
G |
14: 33,261,724 (GRCm39) |
I843S |
probably damaging |
Het |
| Gcgr |
A |
G |
11: 120,427,328 (GRCm39) |
Y146C |
probably damaging |
Het |
| Gm5930 |
T |
G |
14: 44,573,181 (GRCm39) |
K158T |
probably damaging |
Het |
| Gnl1 |
T |
A |
17: 36,298,487 (GRCm39) |
C410* |
probably null |
Het |
| Il12b |
A |
G |
11: 44,299,401 (GRCm39) |
S157G |
possibly damaging |
Het |
| Jcad |
G |
T |
18: 4,674,862 (GRCm39) |
A875S |
probably benign |
Het |
| Kcnrg |
T |
A |
14: 61,845,386 (GRCm39) |
M142K |
probably benign |
Het |
| Krtap4-6 |
A |
C |
11: 99,556,568 (GRCm39) |
L53R |
unknown |
Het |
| Myo10 |
G |
A |
15: 25,804,400 (GRCm39) |
G1565D |
possibly damaging |
Het |
| Nf1 |
A |
G |
11: 79,469,157 (GRCm39) |
S806G |
probably damaging |
Het |
| Nlrp5 |
G |
T |
7: 23,116,770 (GRCm39) |
V165L |
probably benign |
Het |
| Nppa |
T |
C |
4: 148,085,795 (GRCm39) |
I134T |
possibly damaging |
Het |
| Or4a72 |
A |
T |
2: 89,405,938 (GRCm39) |
V44E |
noncoding transcript |
Het |
| Or51ai2 |
G |
A |
7: 103,586,980 (GRCm39) |
R131Q |
possibly damaging |
Het |
| Or5b107 |
A |
G |
19: 13,142,683 (GRCm39) |
M102V |
probably benign |
Het |
| Or5p68 |
A |
T |
7: 107,945,495 (GRCm39) |
M231K |
probably damaging |
Het |
| Or6c202 |
C |
A |
10: 128,996,097 (GRCm39) |
C252F |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,498,309 (GRCm39) |
F167I |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,665,722 (GRCm39) |
L740S |
probably damaging |
Het |
| Tmem183a |
T |
A |
1: 134,277,918 (GRCm39) |
D282V |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,636,442 (GRCm39) |
V255E |
possibly damaging |
Het |
| Vmn1r229 |
T |
A |
17: 21,035,309 (GRCm39) |
C185S |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,514,076 (GRCm39) |
M189K |
probably damaging |
Het |
| Vps50 |
T |
G |
6: 3,600,139 (GRCm39) |
V866G |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCATTCATAGGCAGTAGG -3'
(R):5'- ATGTAGCATGTATGACTCACATTTAA -3'
Sequencing Primer
(F):5'- TGGCCTCGAACTCAGAAATCTG -3'
(R):5'- ATATCTGCATACATATGGCTGATTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation