Incidental Mutation 'R2301:Tti2'
| ID |
244425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tti2
|
| Ensembl Gene |
ENSMUSG00000031577 |
| Gene Name |
TELO2 interacting protein 2 |
| Synonyms |
BC019943 |
| MMRRC Submission |
040300-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2301 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
31640344-31654731 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31645823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 379
(V379A)
|
| 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 benign
Transcript: ENSMUST00000098842
AA Change: V379A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000096441
Gene: ENSMUSG00000031577
AA Change: V379A
| 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 benign
Transcript: ENSMUST00000209851
AA Change: V379A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209986
AA Change: V379A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210129
AA Change: V379A
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Catsper1 |
A |
G |
19: 5,390,426 (GRCm39) |
K602E |
probably benign |
Het |
| Chst13 |
A |
T |
6: 90,295,271 (GRCm39) |
S47R |
probably damaging |
Het |
| Clrn1 |
T |
G |
3: 58,753,773 (GRCm39) |
Y196S |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,595,394 (GRCm39) |
S2022P |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,354,606 (GRCm39) |
F3123I |
probably damaging |
Het |
| Dpp9 |
C |
T |
17: 56,501,973 (GRCm39) |
E532K |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,899,970 (GRCm39) |
D970E |
probably damaging |
Het |
| Fam222b |
T |
C |
11: 78,045,369 (GRCm39) |
V310A |
probably damaging |
Het |
| Gm16380 |
A |
G |
9: 53,791,484 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2a1l |
G |
T |
17: 89,018,900 (GRCm39) |
R328L |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,491,600 (GRCm39) |
F3679L |
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,166,190 (GRCm39) |
I114V |
probably benign |
Het |
| Klf10 |
A |
G |
15: 38,297,326 (GRCm39) |
V223A |
possibly damaging |
Het |
| Lyn |
G |
A |
4: 3,780,959 (GRCm39) |
R345H |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,731,512 (GRCm39) |
C63S |
probably damaging |
Het |
| Nlrp1a |
T |
C |
11: 70,996,927 (GRCm39) |
T960A |
possibly damaging |
Het |
| Ogfod1 |
C |
T |
8: 94,763,996 (GRCm39) |
S27L |
probably damaging |
Het |
| Or4k51 |
T |
A |
2: 111,584,621 (GRCm39) |
V9E |
probably benign |
Het |
| Pcdha1 |
A |
G |
18: 37,289,236 (GRCm39) |
Y864C |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,793,586 (GRCm39) |
K1758E |
probably benign |
Het |
| Polk |
T |
C |
13: 96,620,652 (GRCm39) |
E516G |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Sptbn2 |
G |
A |
19: 4,784,166 (GRCm39) |
R636Q |
probably benign |
Het |
| Tmem139 |
G |
T |
6: 42,240,364 (GRCm39) |
C57F |
possibly damaging |
Het |
| Traf5 |
T |
C |
1: 191,729,926 (GRCm39) |
N375S |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,366,131 (GRCm39) |
E92G |
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 |
|
|
IGL02640:Tti2
|
APN |
8 |
31,645,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACAGCTGATCCTCACGCAC -3'
(R):5'- ACACGTCCTGAATAGTTTTATCTGGG -3'
Sequencing Primer
(F):5'- TGATCCTCACGCACATGGAAC -3'
(R):5'- GAGAAAATAAGCTAAAGCATGCCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation