Incidental Mutation 'R3837:Gpam'
| ID |
275725 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpam
|
| Ensembl Gene |
ENSMUSG00000024978 |
| Gene Name |
glycerol-3-phosphate acyltransferase, mitochondrial |
| Synonyms |
GPAT1 |
| MMRRC Submission |
040778-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R3837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
55056067-55115666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55068890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 450
(N450S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061856]
|
| AlphaFold |
Q61586 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061856
AA Change: N450S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000057635
Gene: ENSMUSG00000024978
AA Change: N450S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PlsC
|
5 |
34 |
3e-8 |
BLAST |
|
PlsC
|
224 |
357 |
2.46e-23 |
SMART |
|
Blast:PlsC
|
499 |
551 |
8e-27 |
BLAST |
|
low complexity region
|
687 |
699 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0682 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028I16Rik |
A |
G |
10: 82,648,219 (GRCm39) |
|
noncoding transcript |
Het |
| 4930474N05Rik |
G |
A |
14: 35,817,435 (GRCm39) |
G112S |
probably benign |
Het |
| Adam24 |
T |
C |
8: 41,133,584 (GRCm39) |
S351P |
probably benign |
Het |
| Amigo2 |
T |
C |
15: 97,143,196 (GRCm39) |
I409V |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,025,605 (GRCm39) |
T12A |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,085,499 (GRCm39) |
I150K |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,509,204 (GRCm39) |
|
probably benign |
Het |
| Cdc20b |
T |
C |
13: 113,220,542 (GRCm39) |
W432R |
probably damaging |
Het |
| Cdh9 |
G |
T |
15: 16,823,524 (GRCm39) |
E169* |
probably null |
Het |
| Col28a1 |
C |
T |
6: 8,014,601 (GRCm39) |
V935M |
possibly damaging |
Het |
| Col6a3 |
T |
C |
1: 90,707,803 (GRCm39) |
N1948D |
unknown |
Het |
| Dnajb2 |
G |
A |
1: 75,218,124 (GRCm39) |
|
probably null |
Het |
| Fam13c |
C |
T |
10: 70,378,478 (GRCm39) |
S336L |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,692,314 (GRCm39) |
|
probably null |
Het |
| Fryl |
T |
C |
5: 73,228,608 (GRCm39) |
T1708A |
probably benign |
Het |
| Gcnt4 |
A |
T |
13: 97,083,522 (GRCm39) |
R273* |
probably null |
Het |
| Gldc |
T |
A |
19: 30,096,075 (GRCm39) |
|
probably benign |
Het |
| Glra2 |
C |
T |
X: 164,072,612 (GRCm39) |
V85I |
probably benign |
Het |
| Gm11562 |
A |
G |
11: 99,511,026 (GRCm39) |
I58T |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,303,419 (GRCm39) |
L3020P |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,795,597 (GRCm39) |
I324T |
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,657,785 (GRCm39) |
N429Y |
probably damaging |
Het |
| Lamtor1 |
T |
C |
7: 101,559,315 (GRCm39) |
|
probably null |
Het |
| Lrrd1 |
A |
T |
5: 3,900,204 (GRCm39) |
I170L |
possibly damaging |
Het |
| Magi2 |
G |
A |
5: 20,420,466 (GRCm39) |
D301N |
probably benign |
Het |
| Mid1ip1 |
T |
C |
X: 10,584,620 (GRCm39) |
V51A |
possibly damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,921,831 (GRCm39) |
S96N |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msh3 |
C |
A |
13: 92,491,366 (GRCm39) |
G15C |
probably damaging |
Het |
| Myl12b |
C |
A |
17: 71,281,480 (GRCm39) |
E120* |
probably null |
Het |
| Myo3a |
T |
G |
2: 22,455,121 (GRCm39) |
|
probably benign |
Het |
| Nagk |
A |
T |
6: 83,778,139 (GRCm39) |
H245L |
possibly damaging |
Het |
| Nap1l1 |
T |
A |
10: 111,331,183 (GRCm39) |
|
probably null |
Het |
| Nlrc5 |
A |
G |
8: 95,237,929 (GRCm39) |
|
probably benign |
Het |
| Ogfrl1 |
G |
A |
1: 23,409,041 (GRCm39) |
T395I |
probably benign |
Het |
| Polr1b |
T |
A |
2: 128,961,027 (GRCm39) |
F662Y |
possibly damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,831,478 (GRCm39) |
K230E |
probably damaging |
Het |
| Shld2 |
A |
G |
14: 33,971,142 (GRCm39) |
V581A |
probably damaging |
Het |
| Skap2 |
C |
T |
6: 51,886,279 (GRCm39) |
|
probably null |
Het |
| Skint5 |
A |
T |
4: 113,797,938 (GRCm39) |
M215K |
probably damaging |
Het |
| Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
| Tdp1 |
A |
G |
12: 99,860,967 (GRCm39) |
|
probably null |
Het |
| Tlr3 |
G |
A |
8: 45,849,976 (GRCm39) |
L898F |
probably damaging |
Het |
| Tmem210 |
A |
G |
2: 25,178,444 (GRCm39) |
E35G |
possibly damaging |
Het |
| Tpbg |
T |
C |
9: 85,725,167 (GRCm39) |
|
probably benign |
Het |
| Tubb2a |
G |
T |
13: 34,259,294 (GRCm39) |
N165K |
probably benign |
Het |
| Usp14 |
A |
G |
18: 10,024,532 (GRCm39) |
|
probably null |
Het |
| Vmn1r33 |
A |
T |
6: 66,588,701 (GRCm39) |
D284E |
possibly damaging |
Het |
| Wnk1 |
T |
C |
6: 119,927,004 (GRCm39) |
E1265G |
probably damaging |
Het |
| Yme1l1 |
A |
T |
2: 23,081,092 (GRCm39) |
T455S |
possibly damaging |
Het |
| Zfp111 |
T |
C |
7: 23,898,891 (GRCm39) |
N241S |
possibly damaging |
Het |
|
| Other mutations in Gpam |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01310:Gpam
|
APN |
19 |
55,066,764 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01349:Gpam
|
APN |
19 |
55,084,551 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01515:Gpam
|
APN |
19 |
55,075,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01650:Gpam
|
APN |
19 |
55,070,132 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01768:Gpam
|
APN |
19 |
55,075,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01809:Gpam
|
APN |
19 |
55,064,057 (GRCm39) |
nonsense |
probably null |
|
|
IGL01878:Gpam
|
APN |
19 |
55,071,806 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02451:Gpam
|
APN |
19 |
55,076,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03293:Gpam
|
APN |
19 |
55,059,448 (GRCm39) |
missense |
probably benign |
|
|
IGL03391:Gpam
|
APN |
19 |
55,070,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0492:Gpam
|
UTSW |
19 |
55,084,611 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0703:Gpam
|
UTSW |
19 |
55,061,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1083:Gpam
|
UTSW |
19 |
55,076,643 (GRCm39) |
splice site |
probably benign |
|
|
R1432:Gpam
|
UTSW |
19 |
55,067,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1457:Gpam
|
UTSW |
19 |
55,076,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1556:Gpam
|
UTSW |
19 |
55,064,763 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1733:Gpam
|
UTSW |
19 |
55,069,901 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1744:Gpam
|
UTSW |
19 |
55,063,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1776:Gpam
|
UTSW |
19 |
55,067,007 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2267:Gpam
|
UTSW |
19 |
55,061,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2697:Gpam
|
UTSW |
19 |
55,071,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3836:Gpam
|
UTSW |
19 |
55,068,890 (GRCm39) |
missense |
probably benign |
|
|
R3838:Gpam
|
UTSW |
19 |
55,068,890 (GRCm39) |
missense |
probably benign |
|
|
R3839:Gpam
|
UTSW |
19 |
55,068,890 (GRCm39) |
missense |
probably benign |
|
|
R4670:Gpam
|
UTSW |
19 |
55,084,551 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4717:Gpam
|
UTSW |
19 |
55,064,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4819:Gpam
|
UTSW |
19 |
55,066,773 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5104:Gpam
|
UTSW |
19 |
55,082,418 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5146:Gpam
|
UTSW |
19 |
55,082,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5183:Gpam
|
UTSW |
19 |
55,071,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5326:Gpam
|
UTSW |
19 |
55,079,597 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5347:Gpam
|
UTSW |
19 |
55,077,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Gpam
|
UTSW |
19 |
55,067,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5644:Gpam
|
UTSW |
19 |
55,077,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6244:Gpam
|
UTSW |
19 |
55,059,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6260:Gpam
|
UTSW |
19 |
55,071,838 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6965:Gpam
|
UTSW |
19 |
55,063,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7125:Gpam
|
UTSW |
19 |
55,064,767 (GRCm39) |
missense |
probably benign |
|
|
R7567:Gpam
|
UTSW |
19 |
55,070,062 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7715:Gpam
|
UTSW |
19 |
55,077,353 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7719:Gpam
|
UTSW |
19 |
55,070,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7863:Gpam
|
UTSW |
19 |
55,059,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8187:Gpam
|
UTSW |
19 |
55,066,269 (GRCm39) |
missense |
probably benign |
|
|
R8434:Gpam
|
UTSW |
19 |
55,070,063 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8483:Gpam
|
UTSW |
19 |
55,077,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8510:Gpam
|
UTSW |
19 |
55,068,814 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8537:Gpam
|
UTSW |
19 |
55,084,671 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8841:Gpam
|
UTSW |
19 |
55,066,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8915:Gpam
|
UTSW |
19 |
55,077,312 (GRCm39) |
missense |
probably benign |
|
|
R8987:Gpam
|
UTSW |
19 |
55,072,227 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9224:Gpam
|
UTSW |
19 |
55,075,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGACTCAGAAGAGGGATCCCC -3'
(R):5'- TGTACCTTCTAAAGCATGAGGC -3'
Sequencing Primer
(F):5'- CCCATCGGAGTTCCAAATGTG -3'
(R):5'- CTTGTGTATGTCAGCCCAGCAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation