Incidental Mutation 'R6844:Tal1'
| ID |
534663 |
| 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 |
044950-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6844 (G1)
|
| Quality Score |
191.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
114913623-114928952 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 114920464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 46
(P46L)
|
| 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: P46L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030489
Gene: ENSMUSG00000028717
AA Change: P46L
| 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
AA Change: P46L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121437
Gene: ENSMUSG00000028717
AA Change: P46L
| 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: P46L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125202
Gene: ENSMUSG00000028717
AA Change: P46L
| 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: P46L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124983
Gene: ENSMUSG00000028717
AA Change: P46L
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
92% (36/39) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap18 |
G |
A |
10: 26,648,682 (GRCm39) |
A35T |
probably benign |
Het |
| Arhgap21 |
A |
G |
2: 20,886,116 (GRCm39) |
S354P |
probably benign |
Het |
| Casq2 |
A |
T |
3: 102,017,578 (GRCm39) |
H86L |
possibly damaging |
Het |
| Ccdc188 |
G |
A |
16: 18,036,074 (GRCm39) |
G83E |
probably damaging |
Het |
| Cd22 |
G |
T |
7: 30,572,856 (GRCm39) |
|
probably null |
Het |
| Cyp2b13 |
T |
A |
7: 25,781,122 (GRCm39) |
I178N |
probably damaging |
Het |
| Cyp4a31 |
T |
A |
4: 115,420,989 (GRCm39) |
C26S |
probably null |
Het |
| Eif3h |
T |
C |
15: 51,728,729 (GRCm39) |
D42G |
possibly damaging |
Het |
| Elovl4 |
T |
A |
9: 83,672,164 (GRCm39) |
I52L |
probably benign |
Het |
| Fgfbp3 |
C |
A |
19: 36,896,280 (GRCm39) |
A113S |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,813,969 (GRCm39) |
K3429N |
possibly damaging |
Het |
| Gemin5 |
T |
C |
11: 58,054,730 (GRCm39) |
D224G |
probably benign |
Het |
| Gm3415 |
T |
C |
5: 146,494,811 (GRCm39) |
I158T |
probably benign |
Het |
| Gpr22 |
C |
A |
12: 31,759,951 (GRCm39) |
R20L |
probably benign |
Het |
| Htr1a |
A |
G |
13: 105,581,455 (GRCm39) |
K232E |
possibly damaging |
Het |
| Itgax |
T |
A |
7: 127,747,106 (GRCm39) |
|
probably null |
Het |
| Jag2 |
T |
C |
12: 112,880,334 (GRCm39) |
Y310C |
probably damaging |
Het |
| Lce1j |
A |
G |
3: 92,696,656 (GRCm39) |
S41P |
unknown |
Het |
| Mllt10 |
A |
G |
2: 18,164,294 (GRCm39) |
I197V |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Mybpc1 |
T |
A |
10: 88,372,243 (GRCm39) |
I796F |
possibly damaging |
Het |
| Nr2c1 |
T |
A |
10: 94,007,029 (GRCm39) |
L289* |
probably null |
Het |
| Omp |
T |
A |
7: 97,794,283 (GRCm39) |
M115L |
probably benign |
Het |
| Pdcd1 |
C |
T |
1: 93,967,106 (GRCm39) |
R264H |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,476,136 (GRCm39) |
F1119L |
probably benign |
Het |
| Ralyl |
A |
G |
3: 13,841,938 (GRCm39) |
T25A |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,064,970 (GRCm39) |
T656A |
probably damaging |
Het |
| Ripor3 |
C |
T |
2: 167,835,253 (GRCm39) |
|
probably null |
Het |
| Samd8 |
T |
C |
14: 21,825,205 (GRCm39) |
S54P |
probably damaging |
Het |
| Serpinb9g |
A |
T |
13: 33,670,616 (GRCm39) |
I35F |
probably damaging |
Het |
| Shisa8 |
T |
C |
15: 82,096,310 (GRCm39) |
S102G |
probably damaging |
Het |
| Slc4a1ap |
T |
A |
5: 31,684,822 (GRCm39) |
S153T |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,376,831 (GRCm39) |
D1028E |
probably damaging |
Het |
| Slc6a13 |
T |
A |
6: 121,302,012 (GRCm39) |
I198N |
probably damaging |
Het |
| Sst |
C |
T |
16: 23,708,592 (GRCm39) |
D80N |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,026,081 (GRCm39) |
K47E |
probably damaging |
Het |
| Top2b |
A |
T |
14: 16,429,383 (GRCm38) |
N1541I |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,877,736 (GRCm39) |
N2903K |
probably benign |
Het |
| Zfp949 |
A |
G |
9: 88,451,464 (GRCm39) |
T345A |
possibly damaging |
Het |
| Zmat3 |
A |
G |
3: 32,395,644 (GRCm39) |
Y288H |
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 |
|
R6637:Tal1
|
UTSW |
4 |
114,925,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GGTTTCAGTGCGTGATCTCC -3'
(R):5'- ATGCTCACCTGCCTAGTGAG -3'
Sequencing Primer
(F):5'- AGTGCGTGATCTCCTCTCTG -3'
(R):5'- GCTCAGCTGCACCATGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation