Incidental Mutation 'R3416:Tha1'
ID |
266810 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tha1
|
Ensembl Gene |
ENSMUSG00000017713 |
Gene Name |
threonine aldolase 1 |
Synonyms |
GLY1, 1300017K07Rik |
MMRRC Submission |
040634-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R3416 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
117758778-117764307 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 117764026 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 67
(D67G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033230]
|
AlphaFold |
Q6XPS7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033230
AA Change: D67G
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000033230 Gene: ENSMUSG00000017713 AA Change: D67G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:Beta_elim_lyase
|
42 |
334 |
4.6e-91 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125607
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138354
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153989
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500009L16Rik |
T |
C |
10: 83,595,496 (GRCm39) |
|
probably null |
Het |
Abi1 |
T |
C |
2: 22,930,014 (GRCm39) |
S22G |
probably damaging |
Het |
Adgrl2 |
T |
C |
3: 148,564,965 (GRCm39) |
Y201C |
probably damaging |
Het |
Adnp2 |
T |
C |
18: 80,171,373 (GRCm39) |
E1012G |
possibly damaging |
Het |
Azin1 |
A |
T |
15: 38,493,790 (GRCm39) |
S278T |
possibly damaging |
Het |
Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
Cyb561d2 |
A |
G |
9: 107,417,325 (GRCm39) |
L142P |
probably damaging |
Het |
Cyp4f39 |
T |
C |
17: 32,708,716 (GRCm39) |
V421A |
possibly damaging |
Het |
Fryl |
T |
C |
5: 73,265,417 (GRCm39) |
Q510R |
possibly damaging |
Het |
Gfra1 |
T |
C |
19: 58,255,544 (GRCm39) |
Y301C |
probably damaging |
Het |
Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
Klhl42 |
G |
A |
6: 147,009,378 (GRCm39) |
V406M |
probably damaging |
Het |
Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
Mycs |
C |
T |
X: 5,380,810 (GRCm39) |
S90N |
possibly damaging |
Het |
Or5p80 |
G |
A |
7: 108,229,225 (GRCm39) |
V9I |
possibly damaging |
Het |
Pcdha8 |
A |
T |
18: 37,125,683 (GRCm39) |
Q55L |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,410,760 (GRCm39) |
T2756A |
probably damaging |
Het |
Prl8a8 |
A |
T |
13: 27,695,532 (GRCm39) |
C71S |
probably damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,817,398 (GRCm39) |
|
probably benign |
Het |
Rtl4 |
C |
T |
X: 143,902,901 (GRCm39) |
Q108* |
probably null |
Het |
Scn4a |
A |
T |
11: 106,221,239 (GRCm39) |
S807T |
probably benign |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Smg1 |
G |
C |
7: 117,748,076 (GRCm39) |
|
probably benign |
Het |
Spata1 |
A |
T |
3: 146,193,263 (GRCm39) |
|
probably benign |
Het |
Strbp |
C |
G |
2: 37,480,737 (GRCm39) |
R610T |
possibly damaging |
Het |
Susd5 |
A |
G |
9: 113,924,726 (GRCm39) |
D203G |
possibly damaging |
Het |
Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
Tgm3 |
G |
A |
2: 129,889,692 (GRCm39) |
V629M |
possibly damaging |
Het |
Vmn2r120 |
T |
A |
17: 57,816,241 (GRCm39) |
I705F |
possibly damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
Zan |
T |
A |
5: 137,433,982 (GRCm39) |
E2250D |
unknown |
Het |
Zfp560 |
A |
T |
9: 20,258,974 (GRCm39) |
Y629* |
probably null |
Het |
Zftraf1 |
A |
T |
15: 76,542,915 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Tha1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00497:Tha1
|
APN |
11 |
117,761,831 (GRCm39) |
splice site |
probably benign |
|
IGL01434:Tha1
|
APN |
11 |
117,759,425 (GRCm39) |
missense |
probably benign |
0.31 |
IGL01658:Tha1
|
APN |
11 |
117,762,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R0437:Tha1
|
UTSW |
11 |
117,759,401 (GRCm39) |
missense |
probably benign |
0.17 |
R0671:Tha1
|
UTSW |
11 |
117,763,983 (GRCm39) |
splice site |
probably benign |
|
R1958:Tha1
|
UTSW |
11 |
117,760,179 (GRCm39) |
unclassified |
probably benign |
|
R2127:Tha1
|
UTSW |
11 |
117,760,600 (GRCm39) |
missense |
probably damaging |
0.98 |
R4825:Tha1
|
UTSW |
11 |
117,760,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R5145:Tha1
|
UTSW |
11 |
117,760,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R5266:Tha1
|
UTSW |
11 |
117,760,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R5267:Tha1
|
UTSW |
11 |
117,760,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R5339:Tha1
|
UTSW |
11 |
117,761,908 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5858:Tha1
|
UTSW |
11 |
117,764,210 (GRCm39) |
missense |
unknown |
|
R6820:Tha1
|
UTSW |
11 |
117,762,504 (GRCm39) |
missense |
probably benign |
0.00 |
R7399:Tha1
|
UTSW |
11 |
117,760,516 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7706:Tha1
|
UTSW |
11 |
117,760,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R7905:Tha1
|
UTSW |
11 |
117,761,893 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8094:Tha1
|
UTSW |
11 |
117,759,323 (GRCm39) |
missense |
probably benign |
0.00 |
R8322:Tha1
|
UTSW |
11 |
117,759,493 (GRCm39) |
missense |
probably damaging |
0.97 |
R9145:Tha1
|
UTSW |
11 |
117,759,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R9703:Tha1
|
UTSW |
11 |
117,761,863 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCTGGGCAATTGGGTGAC -3'
(R):5'- AGTGCCACAGCCATGCTATG -3'
Sequencing Primer
(F):5'- AGAGTCTGCATTACCAGGGATCTC -3'
(R):5'- TATGCAGCCTGTTCCGGG -3'
|
Posted On |
2015-02-18 |