Incidental Mutation 'R6637:Tal1'
| ID |
525518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tal1
|
| Ensembl Gene |
ENSMUSG00000028717 |
| Gene Name |
T cell acute lymphocytic leukemia 1 |
| Synonyms |
Hpt, SCL/tal-1, bHLHa17, Scl |
| MMRRC Submission |
044758-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6637 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
114913623-114928952 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114925789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 286
(N286S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030489]
[ENSMUST00000161601]
[ENSMUST00000162489]
|
| AlphaFold |
P22091 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030489
AA Change: N286S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030489
Gene: ENSMUSG00000028717
AA Change: N286S
| 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 damaging
Transcript: ENSMUST00000161601
AA Change: N286S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125202
Gene: ENSMUSG00000028717
AA Change: N286S
| 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 damaging
Transcript: ENSMUST00000162489
AA Change: N286S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124983
Gene: ENSMUSG00000028717
AA Change: N286S
| 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 |
|
| Meta Mutation Damage Score |
0.1145 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.1%
|
| Validation Efficiency |
100% (34/34) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
G |
A |
3: 151,223,410 (GRCm39) |
W621* |
probably null |
Het |
| Adh1 |
T |
A |
3: 137,988,231 (GRCm39) |
C98* |
probably null |
Het |
| Alms1 |
A |
G |
6: 85,596,716 (GRCm39) |
H514R |
possibly damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,170,437 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,554,026 (GRCm39) |
Y68H |
probably damaging |
Het |
| Cdh3 |
G |
C |
8: 107,237,973 (GRCm39) |
V56L |
probably benign |
Het |
| Col3a1 |
C |
T |
1: 45,386,890 (GRCm39) |
T234I |
probably damaging |
Het |
| Cxadr |
C |
T |
16: 78,130,391 (GRCm39) |
T186M |
possibly damaging |
Het |
| Dmgdh |
A |
T |
13: 93,845,706 (GRCm39) |
E453D |
probably benign |
Het |
| Fbxo16 |
A |
G |
14: 65,533,210 (GRCm39) |
|
probably null |
Het |
| Fign |
A |
G |
2: 63,858,252 (GRCm39) |
|
probably benign |
Het |
| Hfe |
C |
G |
13: 23,890,778 (GRCm39) |
E120D |
possibly damaging |
Het |
| Hfe |
T |
C |
13: 23,890,779 (GRCm39) |
E120G |
possibly damaging |
Het |
| Invs |
G |
A |
4: 48,416,203 (GRCm39) |
|
probably null |
Het |
| Kcnb1 |
T |
C |
2: 166,947,774 (GRCm39) |
D358G |
probably damaging |
Het |
| Kcnk5 |
A |
C |
14: 20,194,789 (GRCm39) |
M183R |
probably null |
Het |
| Lamp3 |
A |
G |
16: 19,519,983 (GRCm39) |
F67L |
probably benign |
Het |
| Lrrc8b |
A |
C |
5: 105,628,137 (GRCm39) |
D161A |
possibly damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,057,293 (GRCm39) |
F169Y |
probably benign |
Het |
| Lsamp |
T |
A |
16: 41,353,743 (GRCm39) |
V2D |
possibly damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,922,612 (GRCm39) |
I132V |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,575,255 (GRCm39) |
P1280L |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,372,342 (GRCm39) |
Y2659H |
possibly damaging |
Het |
| Or2g7 |
G |
A |
17: 38,378,115 (GRCm39) |
D18N |
probably damaging |
Het |
| Or4a27 |
T |
C |
2: 88,559,185 (GRCm39) |
I253V |
probably benign |
Het |
| Or5b113 |
T |
C |
19: 13,342,589 (GRCm39) |
V199A |
probably benign |
Het |
| Or5t15 |
T |
G |
2: 86,681,784 (GRCm39) |
K86T |
probably benign |
Het |
| Spa17 |
A |
T |
9: 37,523,270 (GRCm39) |
S6T |
probably benign |
Het |
| Ston2 |
G |
C |
12: 91,680,886 (GRCm39) |
T126S |
probably damaging |
Het |
| Tbr1 |
A |
G |
2: 61,641,974 (GRCm39) |
D150G |
probably benign |
Het |
| Tgm7 |
T |
A |
2: 120,931,571 (GRCm39) |
R197S |
probably damaging |
Het |
| Topaz1 |
A |
T |
9: 122,578,851 (GRCm39) |
Q587L |
probably benign |
Het |
| Ubxn4 |
C |
A |
1: 128,204,824 (GRCm39) |
Q505K |
probably damaging |
Het |
| Vcl |
A |
G |
14: 21,053,200 (GRCm39) |
E405G |
probably damaging |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,650 (GRCm39) |
I742F |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCCTTGCCATGAAGTACATC -3'
(R):5'- CACATAAGTCCATTGACCTGCTTC -3'
Sequencing Primer
(F):5'- GTACATCAATTTCCTGGCCAAG -3'
(R):5'- CAACCCAGGGGCCTAAAGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation