Incidental Mutation 'R4156:Gamt'
| ID |
315545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gamt
|
| Ensembl Gene |
ENSMUSG00000020150 |
| Gene Name |
guanidinoacetate methyltransferase |
| Synonyms |
Spintz1 |
| MMRRC Submission |
040862-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.404)
|
| Stock # |
R4156 (G1)
|
| Quality Score |
120 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80093985-80096846 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 80096558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 60
(R60*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020359]
[ENSMUST00000020361]
[ENSMUST00000092305]
[ENSMUST00000105361]
[ENSMUST00000105362]
[ENSMUST00000105363]
[ENSMUST00000105364]
[ENSMUST00000156935]
|
| AlphaFold |
O35969 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020359
AA Change: R60*
|
| SMART Domains |
Protein: ENSMUSP00000020359
Gene: ENSMUSG00000020150
AA Change: R60*
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1XCL|A
|
2 |
252 |
1e-151 |
PDB |
|
SCOP:d1khha_
|
44 |
252 |
3e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020361
|
| SMART Domains |
Protein: ENSMUSP00000020361
Gene: ENSMUSG00000020153
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
|
Pfam:Oxidored_q6
|
98 |
208 |
1.9e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092305
|
| SMART Domains |
Protein: ENSMUSP00000089958
Gene: ENSMUSG00000069565
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
11 |
83 |
1.89e-24 |
SMART |
|
RRM
|
114 |
186 |
6.25e-25 |
SMART |
|
low complexity region
|
238 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105361
|
| SMART Domains |
Protein: ENSMUSP00000101000
Gene: ENSMUSG00000069565
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
11 |
83 |
1.89e-24 |
SMART |
|
RRM
|
113 |
185 |
6.25e-25 |
SMART |
|
low complexity region
|
237 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105362
|
| SMART Domains |
Protein: ENSMUSP00000101001
Gene: ENSMUSG00000069565
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
11 |
83 |
1.89e-24 |
SMART |
|
RRM
|
113 |
185 |
6.25e-25 |
SMART |
|
low complexity region
|
237 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
393 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105363
AA Change: R60*
|
| SMART Domains |
Protein: ENSMUSP00000101002
Gene: ENSMUSG00000020150
AA Change: R60*
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1XCL|A
|
2 |
236 |
1e-155 |
PDB |
|
SCOP:d1khha_
|
44 |
236 |
2e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105364
|
| SMART Domains |
Protein: ENSMUSP00000101003
Gene: ENSMUSG00000020153
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
|
Pfam:Oxidored_q6
|
98 |
208 |
1.9e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150328
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148615
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156935
|
| SMART Domains |
Protein: ENSMUSP00000117497
Gene: ENSMUSG00000069565
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
3 |
75 |
1.89e-24 |
SMART |
|
RRM
|
105 |
171 |
6.71e-16 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (44/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous null mice display increased postnatal lethality; reduced body weight, muscle tension, and creatine concentrations; infertility with impaired spermatogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
A |
3: 145,644,018 (GRCm39) |
F69I |
possibly damaging |
Het |
| Acot12 |
C |
T |
13: 91,932,882 (GRCm39) |
L552F |
probably benign |
Het |
| Aff4 |
T |
A |
11: 53,301,726 (GRCm39) |
|
probably benign |
Het |
| Aldh18a1 |
A |
G |
19: 40,539,725 (GRCm39) |
V750A |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,469,149 (GRCm39) |
|
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Bcl11b |
A |
T |
12: 107,883,684 (GRCm39) |
|
probably null |
Het |
| Ccpg1 |
C |
A |
9: 72,919,449 (GRCm39) |
Q355K |
probably benign |
Het |
| Cdc42bpb |
G |
A |
12: 111,260,573 (GRCm39) |
P1702S |
probably benign |
Het |
| Ddx20 |
G |
T |
3: 105,586,249 (GRCm39) |
Q699K |
probably benign |
Het |
| Ecd |
A |
G |
14: 20,374,632 (GRCm39) |
S503P |
probably damaging |
Het |
| Etaa1 |
C |
T |
11: 17,890,281 (GRCm39) |
R860Q |
probably damaging |
Het |
| Ffar2 |
T |
A |
7: 30,519,093 (GRCm39) |
Y149F |
probably damaging |
Het |
| Gm6871 |
T |
C |
7: 41,195,510 (GRCm39) |
N302S |
probably damaging |
Het |
| Hps3 |
A |
G |
3: 20,083,393 (GRCm39) |
S135P |
probably damaging |
Het |
| Ifi203 |
T |
A |
1: 173,764,106 (GRCm39) |
N122I |
probably damaging |
Het |
| Leng9 |
T |
C |
7: 4,152,433 (GRCm39) |
D81G |
possibly damaging |
Het |
| Lrrc23 |
T |
A |
6: 124,747,804 (GRCm39) |
K262* |
probably null |
Het |
| Morc2b |
T |
A |
17: 33,357,401 (GRCm39) |
T124S |
probably benign |
Het |
| Mroh1 |
G |
A |
15: 76,286,326 (GRCm39) |
|
probably null |
Het |
| Naxe |
T |
C |
3: 87,964,011 (GRCm39) |
K240R |
probably benign |
Het |
| Ncan |
C |
A |
8: 70,562,727 (GRCm39) |
E510D |
possibly damaging |
Het |
| Ndufs4 |
A |
T |
13: 114,444,390 (GRCm39) |
S129R |
probably benign |
Het |
| Oog2 |
A |
G |
4: 143,920,523 (GRCm39) |
|
probably benign |
Het |
| Or5h18 |
A |
T |
16: 58,847,931 (GRCm39) |
F113Y |
probably damaging |
Het |
| Or8h8 |
T |
C |
2: 86,753,222 (GRCm39) |
Y218C |
probably damaging |
Het |
| Or8j3c |
C |
A |
2: 86,253,544 (GRCm39) |
V159L |
possibly damaging |
Het |
| Papola |
G |
A |
12: 105,767,010 (GRCm39) |
|
probably null |
Het |
| Pasd1 |
T |
C |
X: 70,983,161 (GRCm39) |
C378R |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,056,453 (GRCm39) |
S4517P |
probably damaging |
Het |
| Rpap1 |
C |
T |
2: 119,604,660 (GRCm39) |
R416H |
probably damaging |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Rxfp2 |
G |
A |
5: 149,975,020 (GRCm39) |
V210I |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,484,020 (GRCm39) |
D3909G |
probably damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,852,861 (GRCm39) |
K76N |
possibly damaging |
Het |
| Srgn |
A |
G |
10: 62,333,613 (GRCm39) |
F55L |
possibly damaging |
Het |
| Tmem54 |
G |
A |
4: 129,004,504 (GRCm39) |
R151Q |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,953,790 (GRCm39) |
N1848Y |
probably damaging |
Het |
| Trim33 |
G |
T |
3: 103,217,630 (GRCm39) |
V192L |
possibly damaging |
Het |
| Trpm5 |
G |
T |
7: 142,642,792 (GRCm39) |
L52I |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,779,035 (GRCm39) |
S1141G |
probably benign |
Het |
| Vmn1r63 |
T |
C |
7: 5,806,531 (GRCm39) |
T34A |
possibly damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,774,309 (GRCm39) |
K529R |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,995,743 (GRCm39) |
T302A |
possibly damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,104,177 (GRCm39) |
|
probably benign |
Het |
| Zfp410 |
G |
A |
12: 84,374,206 (GRCm39) |
R181H |
probably damaging |
Het |
|
| Other mutations in Gamt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02174:Gamt
|
APN |
10 |
80,094,230 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03115:Gamt
|
APN |
10 |
80,094,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
mr_bigger
|
UTSW |
10 |
80,096,558 (GRCm39) |
nonsense |
probably null |
|
|
R0001:Gamt
|
UTSW |
10 |
80,094,895 (GRCm39) |
unclassified |
probably benign |
|
|
R1471:Gamt
|
UTSW |
10 |
80,096,692 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5049:Gamt
|
UTSW |
10 |
80,094,788 (GRCm39) |
missense |
probably benign |
|
|
R5890:Gamt
|
UTSW |
10 |
80,095,741 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7910:Gamt
|
UTSW |
10 |
80,094,243 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9647:Gamt
|
UTSW |
10 |
80,095,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGAAATCTTCCCTGGGAGAG -3'
(R):5'- GTTTGCACAGCCTCACCATG -3'
Sequencing Primer
(F):5'- AATCTTCCCTGGGAGAGGAAGTTC -3'
(R):5'- ATGAGCTCTTCTGCAGCTAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation