Incidental Mutation 'P0023:Ttpal'
| ID |
15706 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttpal
|
| Ensembl Gene |
ENSMUSG00000017679 |
| Gene Name |
tocopherol (alpha) transfer protein-like |
| Synonyms |
5830472M02Rik, 3110080A02Rik |
| MMRRC Submission |
038276-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
P0023 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
163444234-163460933 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 163453729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 167
(Y167H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109405]
[ENSMUST00000109408]
[ENSMUST00000152135]
[ENSMUST00000156839]
[ENSMUST00000171696]
|
| AlphaFold |
Q9D3D0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109405
|
| SMART Domains |
Protein: ENSMUSP00000105032
Gene: ENSMUSG00000017679
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
30 |
N/A |
INTRINSIC |
|
CRAL_TRIO_N
|
78 |
103 |
4.17e-8 |
SMART |
|
Blast:SEC14
|
122 |
153 |
7e-13 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109408
AA Change: Y167H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105035
Gene: ENSMUSG00000017679
AA Change: Y167H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
30 |
N/A |
INTRINSIC |
|
CRAL_TRIO_N
|
78 |
103 |
4.17e-8 |
SMART |
|
SEC14
|
122 |
280 |
1.57e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132904
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144729
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152135
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156839
AA Change: Y167H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121527
Gene: ENSMUSG00000017679
AA Change: Y167H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
30 |
N/A |
INTRINSIC |
|
CRAL_TRIO_N
|
78 |
103 |
4.17e-8 |
SMART |
|
Pfam:CRAL_TRIO
|
124 |
196 |
5.8e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171696
AA Change: Y167H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128922
Gene: ENSMUSG00000017679
AA Change: Y167H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
30 |
N/A |
INTRINSIC |
|
CRAL_TRIO_N
|
78 |
103 |
4.17e-8 |
SMART |
|
SEC14
|
122 |
280 |
1.57e-30 |
SMART |
|
| Meta Mutation Damage Score |
0.4903 |
| Coding Region Coverage |
- 1x: 85.1%
- 3x: 76.2%
- 10x: 34.8%
- 20x: 2.4%
|
| Validation Efficiency |
97% (62/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
A |
T |
1: 125,322,803 (GRCm39) |
|
probably null |
Het |
| Chp2 |
A |
G |
7: 121,821,361 (GRCm39) |
N185S |
probably benign |
Het |
| Cited2 |
A |
G |
10: 17,600,463 (GRCm39) |
D257G |
probably damaging |
Het |
| Clptm1l |
G |
T |
13: 73,753,071 (GRCm39) |
R62L |
possibly damaging |
Het |
| Cmya5 |
C |
T |
13: 93,225,854 (GRCm39) |
S3078N |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,737,650 (GRCm39) |
F1169I |
probably benign |
Het |
| Efhc1 |
G |
A |
1: 21,025,751 (GRCm39) |
V86I |
probably benign |
Het |
| Fanci |
A |
C |
7: 79,052,048 (GRCm39) |
D107A |
probably benign |
Het |
| Fyb1 |
A |
T |
15: 6,681,335 (GRCm39) |
K74M |
probably damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,596,700 (GRCm39) |
|
probably benign |
Het |
| Gm11992 |
T |
C |
11: 9,002,846 (GRCm39) |
Y70H |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,325,242 (GRCm39) |
E1900G |
probably damaging |
Het |
| Lrpprc |
G |
A |
17: 85,033,766 (GRCm39) |
T1037M |
probably benign |
Het |
| Or8b50 |
A |
G |
9: 38,517,941 (GRCm39) |
Y60C |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,519,271 (GRCm39) |
|
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,102,274 (GRCm39) |
S342P |
probably damaging |
Het |
| Prkag3 |
A |
G |
1: 74,779,898 (GRCm39) |
L479P |
probably damaging |
Het |
| Rsf1 |
T |
C |
7: 97,311,478 (GRCm39) |
I736T |
probably damaging |
Het |
| Tet2 |
C |
A |
3: 133,192,654 (GRCm39) |
M593I |
probably benign |
Het |
|
| Other mutations in Ttpal |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01097:Ttpal
|
APN |
2 |
163,449,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02081:Ttpal
|
APN |
2 |
163,457,308 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02561:Ttpal
|
APN |
2 |
163,449,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02643:Ttpal
|
APN |
2 |
163,449,140 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1562:Ttpal
|
UTSW |
2 |
163,457,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1670:Ttpal
|
UTSW |
2 |
163,457,286 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2879:Ttpal
|
UTSW |
2 |
163,457,503 (GRCm39) |
splice site |
probably null |
|
|
R4915:Ttpal
|
UTSW |
2 |
163,449,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4949:Ttpal
|
UTSW |
2 |
163,455,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7471:Ttpal
|
UTSW |
2 |
163,448,945 (GRCm39) |
splice site |
probably null |
|
|
R9252:Ttpal
|
UTSW |
2 |
163,449,105 (GRCm39) |
intron |
probably benign |
|
|
R9599:Ttpal
|
UTSW |
2 |
163,457,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9667:Ttpal
|
UTSW |
2 |
163,449,596 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-12-21 |
Incidental Mutation