Incidental Mutation 'IGL01614:Tal1'
| ID |
92337 |
| 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 # |
IGL01614
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
114913623-114928952 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to C
at 114920325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030489]
[ENSMUST00000030489]
[ENSMUST00000136946]
[ENSMUST00000136946]
[ENSMUST00000161601]
[ENSMUST00000161601]
[ENSMUST00000162489]
[ENSMUST00000162489]
|
| AlphaFold |
P22091 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030489
|
| SMART Domains |
Protein: ENSMUSP00000030489
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 |
|
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 null
Transcript: ENSMUST00000030489
|
| SMART Domains |
Protein: ENSMUSP00000030489
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 |
|
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 null
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 null
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 null
Transcript: ENSMUST00000161601
|
| SMART Domains |
Protein: ENSMUSP00000125202
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 |
|
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 null
Transcript: ENSMUST00000161601
|
| SMART Domains |
Protein: ENSMUSP00000125202
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 |
|
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 null
Transcript: ENSMUST00000162489
|
| SMART Domains |
Protein: ENSMUSP00000124983
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 |
|
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 null
Transcript: ENSMUST00000162489
|
| SMART Domains |
Protein: ENSMUSP00000124983
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 |
|
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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
T |
A |
17: 43,735,362 (GRCm39) |
S143T |
possibly damaging |
Het |
| Arhgap32 |
G |
T |
9: 32,171,801 (GRCm39) |
S1527I |
probably damaging |
Het |
| Atp8a2 |
A |
G |
14: 60,282,437 (GRCm39) |
V128A |
probably damaging |
Het |
| Bpi |
T |
C |
2: 158,113,866 (GRCm39) |
F255L |
probably damaging |
Het |
| Clptm1 |
A |
T |
7: 19,371,625 (GRCm39) |
D269E |
probably benign |
Het |
| Cyria |
T |
C |
12: 12,411,574 (GRCm39) |
|
probably null |
Het |
| E2f7 |
T |
C |
10: 110,595,839 (GRCm39) |
V63A |
probably damaging |
Het |
| Eif4e1b |
T |
A |
13: 54,934,729 (GRCm39) |
I184N |
probably damaging |
Het |
| Gal3st1 |
T |
A |
11: 3,948,996 (GRCm39) |
L401Q |
probably damaging |
Het |
| Gm7808 |
G |
A |
9: 19,839,442 (GRCm39) |
|
probably benign |
Het |
| Hdac5 |
G |
A |
11: 102,090,854 (GRCm39) |
T741I |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,172,507 (GRCm39) |
T522A |
probably benign |
Het |
| Lama5 |
A |
C |
2: 179,822,657 (GRCm39) |
F2832V |
probably damaging |
Het |
| Ltk |
A |
C |
2: 119,583,968 (GRCm39) |
L230R |
probably damaging |
Het |
| Mettl14 |
A |
T |
3: 123,167,609 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,433,173 (GRCm39) |
F1507L |
possibly damaging |
Het |
| Nsd3 |
T |
A |
8: 26,156,095 (GRCm39) |
I554K |
possibly damaging |
Het |
| Or1j12 |
T |
G |
2: 36,342,636 (GRCm39) |
I13S |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,529 (GRCm39) |
C30Y |
probably benign |
Het |
| Or51a43 |
C |
T |
7: 103,717,576 (GRCm39) |
V221I |
probably benign |
Het |
| Or8u9 |
A |
T |
2: 86,001,741 (GRCm39) |
I140N |
possibly damaging |
Het |
| Prr14 |
T |
A |
7: 127,074,305 (GRCm39) |
L279H |
probably damaging |
Het |
| Rbm25 |
G |
T |
12: 83,706,341 (GRCm39) |
D229Y |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,684,684 (GRCm39) |
K1926E |
probably damaging |
Het |
| Slc25a23 |
C |
T |
17: 57,352,579 (GRCm39) |
R435Q |
probably null |
Het |
| Srebf2 |
A |
G |
15: 82,063,054 (GRCm39) |
N457S |
probably benign |
Het |
| Stac2 |
T |
C |
11: 97,943,774 (GRCm39) |
D12G |
probably benign |
Het |
| Usp25 |
G |
A |
16: 76,874,005 (GRCm39) |
R527Q |
probably damaging |
Het |
|
| Other mutations in Tal1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01303:Tal1
|
APN |
4 |
114,925,489 (GRCm39) |
missense |
probably benign |
0.28 |
|
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 |
2013-12-09 |
Incidental Mutation