Incidental Mutation 'R5842:Gatm'
| ID |
450477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gatm
|
| Ensembl Gene |
ENSMUSG00000027199 |
| Gene Name |
glycine amidinotransferase (L-arginine:glycine amidinotransferase) |
| Synonyms |
1810003P21Rik |
| MMRRC Submission |
043223-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5842 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
122424954-122441758 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122434108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 147
(I147V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028624]
|
| AlphaFold |
Q9D964 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028624
AA Change: I147V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028624
Gene: ENSMUSG00000027199
AA Change: I147V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidinotransf
|
254 |
414 |
3e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140808
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance obesity, reduced adipocity and improved glucose homeostasis when fed a high fat diet. Mice homozygous for an ENU-induced allele exhibit increased susceptibility to DSS-induced colitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
G |
A |
3: 127,474,618 (GRCm39) |
H462Y |
probably damaging |
Het |
| Atp12a |
T |
C |
14: 56,615,747 (GRCm39) |
I503T |
probably damaging |
Het |
| Bmp6 |
T |
A |
13: 38,530,543 (GRCm39) |
V212D |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,794,883 (GRCm39) |
D1479G |
unknown |
Het |
| Eea1 |
A |
G |
10: 95,853,986 (GRCm39) |
D548G |
probably damaging |
Het |
| Eif5a2 |
T |
C |
3: 28,848,546 (GRCm39) |
V135A |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fstl5 |
T |
G |
3: 76,229,590 (GRCm39) |
N130K |
possibly damaging |
Het |
| Jakmip1 |
C |
T |
5: 37,264,612 (GRCm39) |
R418C |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Matn2 |
A |
T |
15: 34,399,202 (GRCm39) |
D363V |
probably damaging |
Het |
| Mov10 |
G |
A |
3: 104,706,695 (GRCm39) |
|
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Nbas |
T |
C |
12: 13,319,267 (GRCm39) |
|
probably null |
Het |
| Nlgn1 |
A |
T |
3: 26,187,892 (GRCm39) |
|
probably null |
Het |
| Nnt |
T |
A |
13: 119,531,283 (GRCm39) |
I155F |
probably damaging |
Het |
| Or5p80 |
A |
G |
7: 108,229,859 (GRCm39) |
Y220C |
probably benign |
Het |
| Pacc1 |
G |
T |
1: 191,078,986 (GRCm39) |
C223F |
probably damaging |
Het |
| Parp9 |
A |
G |
16: 35,763,778 (GRCm39) |
I19V |
possibly damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,144,337 (GRCm39) |
S143T |
possibly damaging |
Het |
| Pdzph1 |
T |
G |
17: 59,281,407 (GRCm39) |
S292R |
possibly damaging |
Het |
| Pmvk |
T |
A |
3: 89,374,927 (GRCm39) |
V108D |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,268,383 (GRCm39) |
T916A |
possibly damaging |
Het |
| Slc23a1 |
T |
A |
18: 35,755,935 (GRCm39) |
I393F |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,778,866 (GRCm38) |
M925K |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,846,566 (GRCm39) |
D30G |
possibly damaging |
Het |
| Syde2 |
A |
G |
3: 145,704,775 (GRCm39) |
I576V |
probably benign |
Het |
| Tgm2 |
C |
T |
2: 157,985,001 (GRCm39) |
R35H |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,652,887 (GRCm39) |
V745A |
probably benign |
Het |
| Timeless |
T |
C |
10: 128,083,328 (GRCm39) |
|
probably null |
Het |
| Trp53tg5 |
T |
C |
2: 164,313,289 (GRCm39) |
K129E |
possibly damaging |
Het |
| Ttc6 |
T |
C |
12: 57,783,802 (GRCm39) |
Y1754H |
probably damaging |
Het |
| Ube4b |
G |
T |
4: 149,415,887 (GRCm39) |
T1069N |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,219,545 (GRCm39) |
S294L |
possibly damaging |
Het |
| Vgll2 |
T |
C |
10: 51,901,388 (GRCm39) |
L106P |
probably damaging |
Het |
| Vsig10l |
T |
A |
7: 43,118,396 (GRCm39) |
V798E |
probably benign |
Het |
| Wdr73 |
A |
T |
7: 80,541,458 (GRCm39) |
H361Q |
probably damaging |
Het |
| Xrcc3 |
A |
T |
12: 111,770,964 (GRCm39) |
F322I |
possibly damaging |
Het |
| Ypel1 |
T |
C |
16: 16,912,851 (GRCm39) |
T26A |
possibly damaging |
Het |
|
| Other mutations in Gatm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01712:Gatm
|
APN |
2 |
122,431,306 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL03059:Gatm
|
APN |
2 |
122,440,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
mrbig
|
UTSW |
2 |
122,431,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
staggering
|
UTSW |
2 |
122,426,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Weighted
|
UTSW |
2 |
122,440,141 (GRCm39) |
splice site |
probably benign |
|
|
R0046:Gatm
|
UTSW |
2 |
122,431,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Gatm
|
UTSW |
2 |
122,431,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1004:Gatm
|
UTSW |
2 |
122,440,141 (GRCm39) |
splice site |
probably benign |
|
|
R2088:Gatm
|
UTSW |
2 |
122,428,629 (GRCm39) |
missense |
probably benign |
|
|
R2128:Gatm
|
UTSW |
2 |
122,431,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4027:Gatm
|
UTSW |
2 |
122,427,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5155:Gatm
|
UTSW |
2 |
122,440,334 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5183:Gatm
|
UTSW |
2 |
122,425,984 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5517:Gatm
|
UTSW |
2 |
122,426,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5804:Gatm
|
UTSW |
2 |
122,433,083 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6362:Gatm
|
UTSW |
2 |
122,428,677 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8136:Gatm
|
UTSW |
2 |
122,426,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8199:Gatm
|
UTSW |
2 |
122,432,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTCTTCCTCATAATCTCTAAAGCC -3'
(R):5'- TGCGAACCTACCTTCCACTG -3'
Sequencing Primer
(F):5'- GCCTCAAAGGATTCGTAAGTAAAAG -3'
(R):5'- ACTGCGTCATTCTCCTGTAATG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation