Incidental Mutation 'R3904:Amt'
| ID |
309104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amt
|
| Ensembl Gene |
ENSMUSG00000032607 |
| Gene Name |
aminomethyltransferase |
| Synonyms |
EG434437 |
| MMRRC Submission |
040812-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3904 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108174104-108179501 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108174420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 62
(R62C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035227]
[ENSMUST00000035230]
|
| AlphaFold |
Q8CFA2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035227
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035230
AA Change: R62C
PolyPhen 2
Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000035230
Gene: ENSMUSG00000032607
AA Change: R62C
| 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 |
noncoding transcript
Transcript: ENSMUST00000160025
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160675
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162568
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192035
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195695
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (39/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
C |
3: 137,772,400 (GRCm39) |
I530L |
probably benign |
Het |
| 5930422O12Rik |
T |
C |
8: 33,919,467 (GRCm39) |
S96P |
probably damaging |
Het |
| Acot4 |
A |
G |
12: 84,090,101 (GRCm39) |
|
probably null |
Het |
| Alms1 |
A |
G |
6: 85,598,660 (GRCm39) |
D1631G |
probably benign |
Het |
| Amd1 |
C |
T |
10: 40,166,453 (GRCm39) |
R210H |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,484,439 (GRCm39) |
F1175S |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 88,860,867 (GRCm39) |
F337S |
probably damaging |
Het |
| Bub1 |
A |
C |
2: 127,663,862 (GRCm39) |
I207S |
probably benign |
Het |
| Cfap53 |
T |
A |
18: 74,440,445 (GRCm39) |
L405M |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
| Esp3 |
A |
T |
17: 40,946,820 (GRCm39) |
T48S |
possibly damaging |
Het |
| Fmo1 |
G |
T |
1: 162,661,337 (GRCm39) |
N315K |
possibly damaging |
Het |
| Fsip2l |
T |
C |
X: 47,930,421 (GRCm39) |
N649S |
possibly damaging |
Het |
| Impg1 |
A |
G |
9: 80,252,867 (GRCm39) |
S438P |
possibly damaging |
Het |
| Jsrp1 |
T |
A |
10: 80,648,246 (GRCm39) |
M1L |
probably benign |
Het |
| Klra14-ps |
T |
A |
6: 130,129,512 (GRCm39) |
|
noncoding transcript |
Het |
| Mrm3 |
A |
G |
11: 76,135,112 (GRCm39) |
M108V |
probably benign |
Het |
| Mtf2 |
T |
A |
5: 108,228,866 (GRCm39) |
F61I |
probably damaging |
Het |
| Nat10 |
A |
T |
2: 103,556,592 (GRCm39) |
|
probably benign |
Het |
| Or2y10 |
T |
C |
11: 49,455,585 (GRCm39) |
I279T |
possibly damaging |
Het |
| Or7c70 |
T |
G |
10: 78,683,132 (GRCm39) |
I206L |
probably benign |
Het |
| Pcgf5 |
T |
C |
19: 36,417,495 (GRCm39) |
I140T |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,407,801 (GRCm39) |
L684P |
probably benign |
Het |
| Psmd10 |
T |
C |
X: 139,850,052 (GRCm39) |
*152W |
probably null |
Het |
| Ptpn23 |
A |
C |
9: 110,218,313 (GRCm39) |
M600R |
probably benign |
Het |
| Pxmp4 |
C |
T |
2: 154,429,969 (GRCm39) |
R140H |
probably damaging |
Het |
| Rnf112 |
T |
C |
11: 61,341,211 (GRCm39) |
E410G |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,830 (GRCm39) |
K144* |
probably null |
Het |
| Shld2 |
A |
G |
14: 33,981,666 (GRCm39) |
W491R |
probably damaging |
Het |
| Slc46a3 |
C |
T |
5: 147,823,264 (GRCm39) |
E193K |
probably benign |
Het |
| Snap23 |
A |
C |
2: 120,429,815 (GRCm39) |
D209A |
possibly damaging |
Het |
| Tg |
C |
T |
15: 66,638,011 (GRCm39) |
Q656* |
probably null |
Het |
| Tshz2 |
A |
G |
2: 169,726,307 (GRCm39) |
Y301C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,670,638 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
C |
T |
1: 66,678,455 (GRCm39) |
Q2011* |
probably null |
Het |
| Vwa3a |
A |
G |
7: 120,358,099 (GRCm39) |
T57A |
probably benign |
Het |
| Zfp518a |
C |
T |
19: 40,903,364 (GRCm39) |
Q1098* |
probably null |
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 |
|
R4729:Amt
|
UTSW |
9 |
108,177,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4814:Amt
|
UTSW |
9 |
108,176,979 (GRCm39) |
missense |
probably benign |
|
|
R5149:Amt
|
UTSW |
9 |
108,178,650 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
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'- CCCACTCAGTTCTGTACAGG -3'
(R):5'- TCCTGAGTTAGCCCTCTAGAGTC -3'
Sequencing Primer
(F):5'- CTCAGTTCTGTACAGGTGGGATAAAG -3'
(R):5'- GAGTTAGCCCTCTAGAGTCCCTAAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation