Incidental Mutation 'IGL01303:Tal1'
| ID |
73322 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tal1
|
| Ensembl Gene |
ENSMUSG00000028717 |
| Gene Name |
T cell acute lymphocytic leukemia 1 |
| Synonyms |
Hpt, SCL/tal-1, bHLHa17, Scl |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01303
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
114913623-114928952 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114925489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 186
(V186A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030489]
[ENSMUST00000136946]
[ENSMUST00000161601]
[ENSMUST00000162489]
|
| AlphaFold |
P22091 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030489
AA Change: V186A
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000030489
Gene: ENSMUSG00000028717
AA Change: V186A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
137 |
N/A |
INTRINSIC |
|
HLH
|
193 |
245 |
2.85e-19 |
SMART |
|
low complexity region
|
263 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
328 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136946
|
| SMART Domains |
Protein: ENSMUSP00000121437
Gene: ENSMUSG00000028717
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
137 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161601
AA Change: V186A
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000125202
Gene: ENSMUSG00000028717
AA Change: V186A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
137 |
N/A |
INTRINSIC |
|
HLH
|
193 |
245 |
2.85e-19 |
SMART |
|
low complexity region
|
263 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
328 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162489
AA Change: V186A
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124983
Gene: ENSMUSG00000028717
AA Change: V186A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
137 |
N/A |
INTRINSIC |
|
HLH
|
193 |
245 |
2.85e-19 |
SMART |
|
low complexity region
|
263 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
328 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous targeted null mutants show retarded growth, edema, lack yolk sac hematopoiesis and die at embryonic day 9.5-10.5. Conditional mutants show loss of megakaryocyte and erhythrocyte progenitors resulting in low hematocrit and platelet count. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
C |
9: 90,053,787 (GRCm39) |
I111L |
possibly damaging |
Het |
| Ankrd13a |
A |
T |
5: 114,924,063 (GRCm39) |
H53L |
possibly damaging |
Het |
| Becn1 |
T |
C |
11: 101,185,811 (GRCm39) |
D145G |
possibly damaging |
Het |
| Bod1l |
A |
G |
5: 41,974,942 (GRCm39) |
V2124A |
probably benign |
Het |
| Cdcp3 |
A |
G |
7: 130,796,060 (GRCm39) |
T72A |
possibly damaging |
Het |
| Celsr1 |
C |
T |
15: 85,914,692 (GRCm39) |
A1094T |
probably damaging |
Het |
| Clstn2 |
A |
T |
9: 97,365,128 (GRCm39) |
Y459* |
probably null |
Het |
| Cnksr3 |
A |
G |
10: 7,104,281 (GRCm39) |
|
probably null |
Het |
| Cux2 |
A |
T |
5: 122,003,991 (GRCm39) |
F1048L |
probably benign |
Het |
| Cybrd1 |
A |
G |
2: 70,960,050 (GRCm39) |
K83E |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,962,294 (GRCm39) |
|
probably benign |
Het |
| Eef2 |
T |
A |
10: 81,017,777 (GRCm39) |
V813E |
possibly damaging |
Het |
| Eef2 |
A |
T |
10: 81,017,816 (GRCm39) |
|
probably null |
Het |
| Etnk1 |
T |
G |
6: 143,126,392 (GRCm39) |
I79S |
probably damaging |
Het |
| Fam151a |
A |
G |
4: 106,604,790 (GRCm39) |
N384S |
possibly damaging |
Het |
| Fam83c |
A |
G |
2: 155,676,362 (GRCm39) |
L136P |
probably damaging |
Het |
| Gfra2 |
G |
A |
14: 71,133,292 (GRCm39) |
V41I |
probably benign |
Het |
| Mroh9 |
A |
G |
1: 162,908,144 (GRCm39) |
I2T |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,306,132 (GRCm39) |
I274V |
probably benign |
Het |
| Nacad |
T |
G |
11: 6,548,279 (GRCm39) |
E1456A |
possibly damaging |
Het |
| Npy4r |
T |
A |
14: 33,868,614 (GRCm39) |
I225F |
possibly damaging |
Het |
| Or3a1b |
T |
G |
11: 74,012,160 (GRCm39) |
F15C |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,973,038 (GRCm39) |
D719G |
possibly damaging |
Het |
| Pparg |
G |
T |
6: 115,449,915 (GRCm39) |
V305L |
possibly damaging |
Het |
| Rictor |
A |
G |
15: 6,738,119 (GRCm39) |
N19D |
probably benign |
Het |
| Slc4a1 |
T |
C |
11: 102,248,790 (GRCm39) |
T292A |
probably benign |
Het |
| Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,935,774 (GRCm39) |
|
probably benign |
Het |
| Top6bl |
T |
C |
19: 4,709,510 (GRCm39) |
T318A |
possibly damaging |
Het |
| Trpm1 |
T |
A |
7: 63,860,578 (GRCm39) |
|
probably benign |
Het |
| Tyw5 |
A |
T |
1: 57,427,712 (GRCm39) |
Y297* |
probably null |
Het |
| Unc79 |
C |
A |
12: 103,128,126 (GRCm39) |
Q2131K |
possibly damaging |
Het |
|
| Other mutations in Tal1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01614:Tal1
|
APN |
4 |
114,920,325 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0045:Tal1
|
UTSW |
4 |
114,925,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0755:Tal1
|
UTSW |
4 |
114,925,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1160:Tal1
|
UTSW |
4 |
114,925,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4581:Tal1
|
UTSW |
4 |
114,921,919 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5457:Tal1
|
UTSW |
4 |
114,925,777 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6636:Tal1
|
UTSW |
4 |
114,925,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6637:Tal1
|
UTSW |
4 |
114,925,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6844:Tal1
|
UTSW |
4 |
114,920,464 (GRCm39) |
missense |
probably benign |
|
|
R7188:Tal1
|
UTSW |
4 |
114,925,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7498:Tal1
|
UTSW |
4 |
114,925,879 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7808:Tal1
|
UTSW |
4 |
114,925,489 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8356:Tal1
|
UTSW |
4 |
114,920,625 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8456:Tal1
|
UTSW |
4 |
114,920,625 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9164:Tal1
|
UTSW |
4 |
114,920,646 (GRCm39) |
missense |
probably benign |
|
|
R9745:Tal1
|
UTSW |
4 |
114,920,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation