Incidental Mutation 'IGL02640:Tti2'
| ID |
301695 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tti2
|
| Ensembl Gene |
ENSMUSG00000031577 |
| Gene Name |
TELO2 interacting protein 2 |
| Synonyms |
BC019943 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02640
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
31640344-31654731 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31645942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 419
(W419R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033983]
[ENSMUST00000098842]
[ENSMUST00000209851]
[ENSMUST00000209986]
[ENSMUST00000210129]
|
| AlphaFold |
Q8BGV4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033983
|
| SMART Domains |
Protein: ENSMUSP00000033983
Gene: ENSMUSG00000031578
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L28e
|
6 |
119 |
5e-40 |
PFAM |
|
Pfam:Mak16
|
138 |
235 |
4.7e-36 |
PFAM |
|
low complexity region
|
242 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098842
AA Change: W419R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096441
Gene: ENSMUSG00000031577
AA Change: W419R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2454
|
208 |
397 |
7.1e-17 |
PFAM |
|
low complexity region
|
426 |
436 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209851
AA Change: W419R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209986
AA Change: W419R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210129
AA Change: W419R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh3 |
C |
A |
2: 93,826,706 (GRCm39) |
R165L |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 38,120,855 (GRCm39) |
V730A |
possibly damaging |
Het |
| Arcn1 |
A |
C |
9: 44,662,614 (GRCm39) |
I344S |
probably damaging |
Het |
| Ascc3 |
A |
C |
10: 50,643,470 (GRCm39) |
D1807A |
possibly damaging |
Het |
| Atp2b3 |
A |
G |
X: 72,585,811 (GRCm39) |
S615G |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,128,904 (GRCm39) |
N450S |
probably benign |
Het |
| Cep41 |
T |
C |
6: 30,658,867 (GRCm39) |
E160G |
probably benign |
Het |
| Cxxc1 |
T |
C |
18: 74,354,254 (GRCm39) |
L654P |
probably damaging |
Het |
| Dusp29 |
T |
A |
14: 21,753,123 (GRCm39) |
T8S |
probably damaging |
Het |
| Gnb4 |
C |
T |
3: 32,645,374 (GRCm39) |
A106T |
probably benign |
Het |
| Gosr1 |
T |
C |
11: 76,645,603 (GRCm39) |
N59S |
probably benign |
Het |
| Itgav |
A |
G |
2: 83,622,283 (GRCm39) |
T622A |
probably benign |
Het |
| Lamc2 |
A |
G |
1: 153,027,803 (GRCm39) |
I207T |
probably damaging |
Het |
| Lce1c |
C |
A |
3: 92,587,845 (GRCm39) |
|
probably benign |
Het |
| Mcm3ap |
G |
T |
10: 76,342,255 (GRCm39) |
D1583Y |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,453,563 (GRCm39) |
F220I |
possibly damaging |
Het |
| Or14j2 |
A |
G |
17: 37,885,912 (GRCm39) |
V134A |
possibly damaging |
Het |
| Or2ag16 |
A |
T |
7: 106,352,559 (GRCm39) |
F12Y |
probably damaging |
Het |
| Plcb1 |
T |
G |
2: 135,062,779 (GRCm39) |
|
probably benign |
Het |
| Polr3c |
G |
A |
3: 96,624,002 (GRCm39) |
T312M |
probably damaging |
Het |
| Ppp4r3c2 |
T |
C |
X: 88,796,210 (GRCm39) |
V14A |
probably benign |
Het |
| Ptpn12 |
G |
T |
5: 21,224,244 (GRCm39) |
D116E |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,174,569 (GRCm39) |
D747G |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,366,440 (GRCm39) |
|
probably null |
Het |
| Slit3 |
T |
C |
11: 35,591,172 (GRCm39) |
V1328A |
probably benign |
Het |
| Sucla2 |
C |
A |
14: 73,819,246 (GRCm39) |
S264Y |
probably benign |
Het |
| Tagln3 |
T |
C |
16: 45,544,596 (GRCm39) |
D25G |
probably benign |
Het |
| Tbck |
A |
G |
3: 132,480,247 (GRCm39) |
T709A |
probably benign |
Het |
| Tead1 |
C |
T |
7: 112,460,663 (GRCm39) |
A189V |
probably benign |
Het |
| Tmem234 |
A |
G |
4: 129,494,896 (GRCm39) |
Q46R |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,868,881 (GRCm39) |
L395Q |
probably damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,194,816 (GRCm39) |
M34K |
probably benign |
Het |
| Vps13c |
G |
T |
9: 67,793,530 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
A |
T |
18: 13,977,987 (GRCm39) |
Y809N |
probably benign |
Het |
|
| Other mutations in Tti2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02005:Tti2
|
APN |
8 |
31,645,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02118:Tti2
|
APN |
8 |
31,645,537 (GRCm39) |
splice site |
probably null |
|
|
IGL02884:Tti2
|
APN |
8 |
31,641,505 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
PIT4366001:Tti2
|
UTSW |
8 |
31,641,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2062:Tti2
|
UTSW |
8 |
31,644,338 (GRCm39) |
splice site |
probably benign |
|
|
R2081:Tti2
|
UTSW |
8 |
31,641,337 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2089:Tti2
|
UTSW |
8 |
31,644,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Tti2
|
UTSW |
8 |
31,644,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Tti2
|
UTSW |
8 |
31,644,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2301:Tti2
|
UTSW |
8 |
31,645,823 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3735:Tti2
|
UTSW |
8 |
31,645,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3875:Tti2
|
UTSW |
8 |
31,641,175 (GRCm39) |
missense |
probably benign |
|
|
R3916:Tti2
|
UTSW |
8 |
31,643,547 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3917:Tti2
|
UTSW |
8 |
31,643,547 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4827:Tti2
|
UTSW |
8 |
31,640,998 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6522:Tti2
|
UTSW |
8 |
31,643,631 (GRCm39) |
missense |
probably null |
0.01 |
|
R6969:Tti2
|
UTSW |
8 |
31,644,329 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9036:Tti2
|
UTSW |
8 |
31,645,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9255:Tti2
|
UTSW |
8 |
31,645,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9295:Tti2
|
UTSW |
8 |
31,643,550 (GRCm39) |
nonsense |
probably null |
|
|
R9688:Tti2
|
UTSW |
8 |
31,644,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9774:Tti2
|
UTSW |
8 |
31,645,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0004:Tti2
|
UTSW |
8 |
31,645,899 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation