Incidental Mutation 'IGL01417:Htatip2'
| ID |
80426 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Htatip2
|
| Ensembl Gene |
ENSMUSG00000039745 |
| Gene Name |
HIV-1 Tat interactive protein 2 |
| Synonyms |
TIP30 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.709)
|
| Stock # |
IGL01417
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
49408863-49423723 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 49420573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 140
(V140I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085272]
[ENSMUST00000207895]
|
| AlphaFold |
Q9Z2G9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085272
AA Change: V107I
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000082374
Gene: ENSMUSG00000039745
AA Change: V107I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Semialdhyde_dh
|
20 |
116 |
2.1e-8 |
PFAM |
|
Pfam:NAD_binding_10
|
46 |
214 |
2.4e-14 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207895
AA Change: V140I
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Inactivation of this gene increases susceptibility to tumorigenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa13 |
T |
A |
15: 58,228,043 (GRCm39) |
|
noncoding transcript |
Het |
| Ctdsp2 |
T |
C |
10: 126,829,743 (GRCm39) |
I125T |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,623,759 (GRCm39) |
K1044E |
probably benign |
Het |
| Edem2 |
T |
C |
2: 155,570,898 (GRCm39) |
Y44C |
probably damaging |
Het |
| Elmo1 |
T |
C |
13: 20,435,345 (GRCm39) |
|
probably null |
Het |
| Flnb |
T |
C |
14: 7,905,513 (GRCm38) |
S1088P |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,087,520 (GRCm39) |
|
probably benign |
Het |
| Fv1 |
T |
A |
4: 147,953,786 (GRCm39) |
C117* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,734,990 (GRCm39) |
D174G |
probably damaging |
Het |
| Mill1 |
G |
T |
7: 17,998,708 (GRCm39) |
R306L |
probably benign |
Het |
| Myoz2 |
G |
A |
3: 122,800,081 (GRCm39) |
T249I |
possibly damaging |
Het |
| Nrdc |
T |
C |
4: 108,858,027 (GRCm39) |
|
probably benign |
Het |
| Or2r3 |
T |
A |
6: 42,449,046 (GRCm39) |
H22L |
probably benign |
Het |
| Pcbp1 |
T |
C |
6: 86,502,836 (GRCm39) |
H21R |
probably damaging |
Het |
| Pdcd2l |
A |
C |
7: 33,892,170 (GRCm39) |
L221R |
probably damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,851,566 (GRCm39) |
E135G |
probably damaging |
Het |
| Rbsn |
T |
C |
6: 92,184,100 (GRCm39) |
E71G |
possibly damaging |
Het |
| Shc3 |
T |
C |
13: 51,585,200 (GRCm39) |
R472G |
probably benign |
Het |
| Sox8 |
A |
C |
17: 25,786,502 (GRCm39) |
|
probably null |
Het |
| Tacr3 |
G |
T |
3: 134,535,242 (GRCm39) |
W70L |
possibly damaging |
Het |
| Tacr3 |
A |
T |
3: 134,535,307 (GRCm39) |
I92F |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,138,111 (GRCm39) |
N1156S |
probably damaging |
Het |
| Upk3b |
T |
C |
5: 136,067,920 (GRCm39) |
I37T |
possibly damaging |
Het |
| Vmn1r35 |
T |
A |
6: 66,656,191 (GRCm39) |
I160F |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,522,377 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Htatip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01328:Htatip2
|
APN |
7 |
49,420,697 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03095:Htatip2
|
APN |
7 |
49,409,522 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0084:Htatip2
|
UTSW |
7 |
49,409,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0349:Htatip2
|
UTSW |
7 |
49,423,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0631:Htatip2
|
UTSW |
7 |
49,423,059 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4612:Htatip2
|
UTSW |
7 |
49,422,345 (GRCm39) |
nonsense |
probably null |
|
|
R4688:Htatip2
|
UTSW |
7 |
49,423,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4715:Htatip2
|
UTSW |
7 |
49,420,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6074:Htatip2
|
UTSW |
7 |
49,422,322 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6207:Htatip2
|
UTSW |
7 |
49,420,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6862:Htatip2
|
UTSW |
7 |
49,420,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7016:Htatip2
|
UTSW |
7 |
49,420,583 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7225:Htatip2
|
UTSW |
7 |
49,420,604 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7242:Htatip2
|
UTSW |
7 |
49,422,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7408:Htatip2
|
UTSW |
7 |
49,409,534 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7452:Htatip2
|
UTSW |
7 |
49,423,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7718:Htatip2
|
UTSW |
7 |
49,420,632 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9451:Htatip2
|
UTSW |
7 |
49,408,987 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2013-11-05 |
Incidental Mutation