Incidental Mutation 'R5145:Tha1'
| ID |
395092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tha1
|
| Ensembl Gene |
ENSMUSG00000017713 |
| Gene Name |
threonine aldolase 1 |
| Synonyms |
GLY1, 1300017K07Rik |
| MMRRC Submission |
042729-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R5145 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
117758778-117764307 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 117760502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 241
(S241A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033230]
[ENSMUST00000093905]
|
| AlphaFold |
Q6XPS7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033230
AA Change: S241A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033230
Gene: ENSMUSG00000017713
AA Change: S241A
| 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 |
probably benign
Transcript: ENSMUST00000093905
|
| SMART Domains |
Protein: ENSMUSP00000091432
Gene: ENSMUSG00000070330
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
4 |
190 |
9.7e-14 |
PFAM |
|
Pfam:Claudin_2
|
16 |
192 |
1.3e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153989
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
G |
A |
15: 11,285,962 (GRCm39) |
G724R |
probably damaging |
Het |
| Adgrg7 |
T |
A |
16: 56,562,682 (GRCm39) |
I552L |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,617,943 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,613,582 (GRCm39) |
T88A |
probably benign |
Het |
| Col6a5 |
T |
G |
9: 105,811,444 (GRCm39) |
I692L |
unknown |
Het |
| Cry2 |
T |
C |
2: 92,243,405 (GRCm39) |
I479V |
probably benign |
Het |
| Ddx21 |
T |
C |
10: 62,423,318 (GRCm39) |
|
probably null |
Het |
| Efcab12 |
T |
A |
6: 115,800,238 (GRCm39) |
I262F |
probably damaging |
Het |
| Eif2ak2 |
T |
C |
17: 79,183,633 (GRCm39) |
D72G |
possibly damaging |
Het |
| Fry |
T |
C |
5: 150,293,689 (GRCm39) |
F461L |
probably damaging |
Het |
| Gm38706 |
G |
A |
6: 130,460,731 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9772 |
C |
T |
17: 22,226,107 (GRCm39) |
C59Y |
probably damaging |
Het |
| Meig1 |
T |
C |
2: 3,410,263 (GRCm39) |
E79G |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mfsd2b |
T |
A |
12: 4,915,908 (GRCm39) |
|
probably benign |
Het |
| Nfatc2 |
A |
C |
2: 168,431,987 (GRCm39) |
I42S |
probably benign |
Het |
| Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
| Npy6r |
C |
T |
18: 44,409,686 (GRCm39) |
T369I |
probably benign |
Het |
| Or7a36 |
A |
G |
10: 78,820,143 (GRCm39) |
E173G |
probably benign |
Het |
| Ptprb |
A |
G |
10: 116,179,820 (GRCm39) |
T1413A |
probably benign |
Het |
| Ptprc |
A |
G |
1: 138,017,304 (GRCm39) |
S624P |
probably benign |
Het |
| Pum3 |
A |
G |
19: 27,377,169 (GRCm39) |
V441A |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,315,860 (GRCm39) |
D2193E |
probably damaging |
Het |
| Rbl1 |
A |
T |
2: 157,017,397 (GRCm39) |
|
probably benign |
Het |
| Rnf167 |
T |
C |
11: 70,540,906 (GRCm39) |
|
probably benign |
Het |
| Sdr9c7 |
T |
C |
10: 127,738,259 (GRCm39) |
V179A |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,932,615 (GRCm39) |
N706S |
possibly damaging |
Het |
| Stt3a |
T |
C |
9: 36,646,762 (GRCm39) |
Y617C |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,936,966 (GRCm39) |
S1361C |
probably damaging |
Het |
| Tti1 |
G |
A |
2: 157,850,432 (GRCm39) |
A269V |
probably benign |
Het |
| Ugt2a1 |
A |
G |
5: 87,633,886 (GRCm39) |
|
probably null |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,761 (GRCm39) |
T730A |
possibly damaging |
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 |
|
R3416:Tha1
|
UTSW |
11 |
117,764,026 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4825:Tha1
|
UTSW |
11 |
117,760,205 (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'- AATCTCTGGGCATTCTCGTGG -3'
(R):5'- AATTTTGCCTCTGAACACCACC -3'
Sequencing Primer
(F):5'- GCGCCATGCTTCTCCAATGAAG -3'
(R):5'- GAACACCACCTGCCCTTTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation