Incidental Mutation 'R5149:Amt'
| ID |
395254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amt
|
| Ensembl Gene |
ENSMUSG00000032607 |
| Gene Name |
aminomethyltransferase |
| Synonyms |
EG434437 |
| MMRRC Submission |
042732-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5149 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108174104-108179501 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108178650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 389
(V389I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007959]
[ENSMUST00000035227]
[ENSMUST00000035230]
[ENSMUST00000044725]
[ENSMUST00000192886]
[ENSMUST00000195615]
|
| AlphaFold |
Q8CFA2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007959
|
| SMART Domains |
Protein: ENSMUSP00000007959
Gene: ENSMUSG00000007815
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
8 |
181 |
1.09e-134 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035227
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035230
AA Change: V389I
PolyPhen 2
Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000035230
Gene: ENSMUSG00000032607
AA Change: V389I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCV_T
|
38 |
291 |
7.8e-86 |
PFAM |
|
Pfam:GCV_T_C
|
300 |
392 |
1.6e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044725
|
| SMART Domains |
Protein: ENSMUSP00000045063
Gene: ENSMUSG00000039461
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:T_cell_tran_alt
|
15 |
122 |
1.3e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160025
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160675
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162568
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193619
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192886
|
| SMART Domains |
Protein: ENSMUSP00000142002
Gene: ENSMUSG00000039461
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:T_cell_tran_alt
|
15 |
106 |
1.5e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195615
|
| SMART Domains |
Protein: ENSMUSP00000141592
Gene: ENSMUSG00000039461
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:T_cell_tran_alt
|
15 |
103 |
2.9e-39 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele develop neural tubes defects at high frequency and exhibit prenatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsg |
A |
G |
16: 22,717,673 (GRCm39) |
T245A |
probably benign |
Het |
| Akr1c13 |
G |
T |
13: 4,244,168 (GRCm39) |
V74L |
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,535,957 (GRCm39) |
N159S |
probably benign |
Het |
| Atp1a4 |
A |
G |
1: 172,059,572 (GRCm39) |
I840T |
probably damaging |
Het |
| Capn1 |
T |
C |
19: 6,040,364 (GRCm39) |
|
probably null |
Het |
| Col27a1 |
T |
C |
4: 63,249,664 (GRCm39) |
|
probably benign |
Het |
| Cyp2j5 |
A |
G |
4: 96,547,744 (GRCm39) |
L166P |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dchs1 |
G |
A |
7: 105,404,865 (GRCm39) |
T2559I |
probably damaging |
Het |
| Dnah12 |
C |
A |
14: 26,572,883 (GRCm39) |
S258* |
probably null |
Het |
| Dpep1 |
A |
T |
8: 123,927,177 (GRCm39) |
T309S |
probably benign |
Het |
| Epha5 |
A |
T |
5: 84,298,217 (GRCm39) |
F559L |
probably damaging |
Het |
| Gm3409 |
T |
C |
5: 146,474,571 (GRCm39) |
I29T |
possibly damaging |
Het |
| Grhl1 |
CAGAAGAAG |
CAGAAG |
12: 24,662,178 (GRCm39) |
|
probably benign |
Het |
| Gtf3c1 |
G |
T |
7: 125,267,209 (GRCm39) |
R941S |
probably damaging |
Het |
| Helb |
C |
T |
10: 119,941,648 (GRCm39) |
E347K |
probably benign |
Het |
| Ighv14-3 |
A |
G |
12: 114,023,710 (GRCm39) |
S36P |
probably damaging |
Het |
| Klrb1c |
T |
A |
6: 128,760,670 (GRCm39) |
M211L |
probably benign |
Het |
| Larp7 |
C |
T |
3: 127,334,460 (GRCm39) |
E510K |
probably damaging |
Het |
| Lrig1 |
C |
T |
6: 94,605,025 (GRCm39) |
R190Q |
possibly damaging |
Het |
| Marchf6 |
A |
G |
15: 31,462,140 (GRCm39) |
S863P |
possibly damaging |
Het |
| Mgst2 |
A |
G |
3: 51,589,958 (GRCm39) |
N132S |
probably benign |
Het |
| Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or5w15 |
A |
T |
2: 87,567,749 (GRCm39) |
S306R |
probably benign |
Het |
| Or6c6c |
T |
C |
10: 129,541,377 (GRCm39) |
V210A |
probably benign |
Het |
| Papln |
A |
T |
12: 83,818,656 (GRCm39) |
|
probably null |
Het |
| Poteg |
C |
T |
8: 27,971,671 (GRCm39) |
S395L |
possibly damaging |
Het |
| Prox1 |
T |
A |
1: 189,879,250 (GRCm39) |
I643F |
possibly damaging |
Het |
| Septin4 |
A |
G |
11: 87,480,071 (GRCm39) |
E211G |
probably damaging |
Het |
| Serpinb6e |
A |
G |
13: 34,016,468 (GRCm39) |
F422L |
probably damaging |
Het |
| Slc22a19 |
A |
G |
19: 7,688,503 (GRCm39) |
L19P |
probably damaging |
Het |
| Snf8 |
G |
T |
11: 95,934,286 (GRCm39) |
A136S |
probably benign |
Het |
| Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,075,000 (GRCm39) |
T2409A |
probably damaging |
Het |
| Tat |
A |
G |
8: 110,723,450 (GRCm39) |
S313G |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,074,855 (GRCm39) |
C1785* |
probably null |
Het |
| Tmem132b |
A |
G |
5: 125,699,989 (GRCm39) |
S176G |
probably damaging |
Het |
| Tnfrsf8 |
T |
C |
4: 145,029,675 (GRCm39) |
R42G |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,754,115 (GRCm39) |
D2124G |
possibly damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,046,598 (GRCm39) |
D1067E |
probably benign |
Het |
| Tspan13 |
T |
C |
12: 36,074,065 (GRCm39) |
S24G |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,344,062 (GRCm39) |
S814P |
possibly damaging |
Het |
| Zfp213 |
C |
A |
17: 23,780,373 (GRCm39) |
R49L |
probably damaging |
Het |
|
| Other mutations in Amt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02657:Amt
|
APN |
9 |
108,178,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03277:Amt
|
APN |
9 |
108,178,418 (GRCm39) |
missense |
probably benign |
|
|
R1333:Amt
|
UTSW |
9 |
108,178,296 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1856:Amt
|
UTSW |
9 |
108,174,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3843:Amt
|
UTSW |
9 |
108,174,420 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3844:Amt
|
UTSW |
9 |
108,174,420 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3903:Amt
|
UTSW |
9 |
108,174,420 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3904:Amt
|
UTSW |
9 |
108,174,420 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4729:Amt
|
UTSW |
9 |
108,177,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4814:Amt
|
UTSW |
9 |
108,176,979 (GRCm39) |
missense |
probably benign |
|
|
R6000:Amt
|
UTSW |
9 |
108,178,684 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6044:Amt
|
UTSW |
9 |
108,174,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6911:Amt
|
UTSW |
9 |
108,178,428 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6957:Amt
|
UTSW |
9 |
108,177,032 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7618:Amt
|
UTSW |
9 |
108,177,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7658:Amt
|
UTSW |
9 |
108,174,430 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7783:Amt
|
UTSW |
9 |
108,174,414 (GRCm39) |
nonsense |
probably null |
|
|
R9276:Amt
|
UTSW |
9 |
108,178,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACTGGCTGGCAGGTGTTC -3'
(R):5'- TAGATAGGATTCTCTCCCCAACCC -3'
Sequencing Primer
(F):5'- CAGGTGTTCAGGATAGGGATAC -3'
(R):5'- GGATTCTCTCCCCAACCCTAAGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation