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: 0.725)
|
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 |