Incidental Mutation 'IGL01326:Serac1'
ID |
74295 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serac1
|
Ensembl Gene |
ENSMUSG00000015659 |
Gene Name |
serine active site containing 1 |
Synonyms |
4930511N22Rik, D17Ertd141e |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01326
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
6092471-6130016 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 6124528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095043
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024570]
[ENSMUST00000097432]
|
AlphaFold |
Q3U213 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024570
|
SMART Domains |
Protein: ENSMUSP00000024570 Gene: ENSMUSG00000015659
Domain | Start | End | E-Value | Type |
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
low complexity region
|
161 |
169 |
N/A |
INTRINSIC |
low complexity region
|
202 |
215 |
N/A |
INTRINSIC |
SCOP:d1jdha_
|
243 |
336 |
3e-5 |
SMART |
Pfam:PGAP1
|
360 |
519 |
3.4e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097432
|
SMART Domains |
Protein: ENSMUSP00000095043 Gene: ENSMUSG00000015659
Domain | Start | End | E-Value | Type |
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
SCOP:d1gw5a_
|
89 |
464 |
3e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139542
|
Coding Region Coverage |
|
Validation Efficiency |
|
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 phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh1 |
G |
A |
3: 137,992,672 (GRCm39) |
V263M |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,375,096 (GRCm39) |
H1909Q |
probably benign |
Het |
Atg2b |
C |
T |
12: 105,588,403 (GRCm39) |
A1936T |
probably damaging |
Het |
Atp8b3 |
G |
T |
10: 80,360,210 (GRCm39) |
L954M |
probably damaging |
Het |
C8a |
T |
C |
4: 104,713,617 (GRCm39) |
Y171C |
probably damaging |
Het |
Cd6 |
A |
G |
19: 10,768,466 (GRCm39) |
S508P |
probably benign |
Het |
Cdk4 |
A |
G |
10: 126,900,492 (GRCm39) |
D86G |
possibly damaging |
Het |
Cdr2l |
G |
T |
11: 115,281,796 (GRCm39) |
R100S |
probably benign |
Het |
Cndp1 |
T |
A |
18: 84,640,357 (GRCm39) |
T283S |
probably benign |
Het |
Cr2 |
T |
C |
1: 194,823,529 (GRCm39) |
Y1023C |
probably null |
Het |
Csmd3 |
A |
G |
15: 47,713,181 (GRCm39) |
F1494L |
probably benign |
Het |
Eeig2 |
A |
G |
3: 108,887,101 (GRCm39) |
V299A |
possibly damaging |
Het |
Eng |
G |
T |
2: 32,562,394 (GRCm39) |
G231W |
probably benign |
Het |
Erp44 |
A |
G |
4: 48,218,126 (GRCm39) |
V181A |
probably benign |
Het |
Fkbp15 |
A |
G |
4: 62,241,487 (GRCm39) |
S553P |
probably damaging |
Het |
Glg1 |
A |
G |
8: 111,909,205 (GRCm39) |
V495A |
probably damaging |
Het |
Gm9631 |
A |
T |
11: 121,836,454 (GRCm39) |
D28E |
possibly damaging |
Het |
Gnptab |
G |
T |
10: 88,268,927 (GRCm39) |
L543F |
probably damaging |
Het |
H4c3 |
A |
T |
13: 23,882,353 (GRCm39) |
I27N |
probably damaging |
Het |
Khdrbs2 |
T |
G |
1: 32,696,558 (GRCm39) |
L329R |
possibly damaging |
Het |
Kidins220 |
C |
A |
12: 25,088,498 (GRCm39) |
H1080Q |
probably damaging |
Het |
Maml1 |
G |
A |
11: 50,156,715 (GRCm39) |
P487S |
probably benign |
Het |
Me1 |
C |
T |
9: 86,480,771 (GRCm39) |
|
probably null |
Het |
Morc2a |
C |
T |
11: 3,631,775 (GRCm39) |
R569C |
probably benign |
Het |
Mrc1 |
A |
G |
2: 14,271,335 (GRCm39) |
Q413R |
probably damaging |
Het |
Mrgprx1 |
A |
T |
7: 47,671,517 (GRCm39) |
C77S |
probably benign |
Het |
Mtarc2 |
T |
C |
1: 184,566,048 (GRCm39) |
|
probably benign |
Het |
Myo1d |
A |
T |
11: 80,575,147 (GRCm39) |
|
probably benign |
Het |
Nr4a1 |
T |
G |
15: 101,171,940 (GRCm39) |
L538R |
probably damaging |
Het |
Olfm1 |
T |
C |
2: 28,119,564 (GRCm39) |
Y385H |
probably damaging |
Het |
Or4a39 |
A |
T |
2: 89,236,675 (GRCm39) |
F249L |
possibly damaging |
Het |
Or5m9 |
A |
G |
2: 85,877,627 (GRCm39) |
E267G |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,795,148 (GRCm39) |
Y2278* |
probably null |
Het |
Plcg2 |
T |
C |
8: 118,300,738 (GRCm39) |
|
probably benign |
Het |
Prkdc |
G |
T |
16: 15,647,556 (GRCm39) |
C3660F |
probably benign |
Het |
Ptpn11 |
T |
C |
5: 121,281,199 (GRCm39) |
D493G |
probably damaging |
Het |
Rad23b |
T |
A |
4: 55,383,601 (GRCm39) |
F278I |
possibly damaging |
Het |
Saxo2 |
T |
C |
7: 82,297,613 (GRCm39) |
I9V |
probably benign |
Het |
Scn7a |
T |
C |
2: 66,582,604 (GRCm39) |
I98V |
probably benign |
Het |
Simc1 |
T |
C |
13: 54,672,473 (GRCm39) |
C274R |
probably benign |
Het |
Sirt3 |
A |
G |
7: 140,444,006 (GRCm39) |
|
probably benign |
Het |
Tctn3 |
A |
G |
19: 40,585,880 (GRCm39) |
L555P |
probably damaging |
Het |
Ttc14 |
A |
G |
3: 33,855,507 (GRCm39) |
I151V |
probably benign |
Het |
Ush2a |
T |
A |
1: 187,995,518 (GRCm39) |
Y96* |
probably null |
Het |
Usp42 |
T |
C |
5: 143,706,970 (GRCm39) |
T270A |
possibly damaging |
Het |
Vmn1r31 |
A |
G |
6: 58,449,784 (GRCm39) |
I27T |
probably benign |
Het |
Vmn2r93 |
G |
A |
17: 18,536,906 (GRCm39) |
A530T |
possibly damaging |
Het |
|
Other mutations in Serac1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02642:Serac1
|
APN |
17 |
6,096,021 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02972:Serac1
|
APN |
17 |
6,121,039 (GRCm39) |
nonsense |
probably null |
|
FR4304:Serac1
|
UTSW |
17 |
6,121,083 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4340:Serac1
|
UTSW |
17 |
6,121,083 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4342:Serac1
|
UTSW |
17 |
6,121,083 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4589:Serac1
|
UTSW |
17 |
6,121,083 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4480001:Serac1
|
UTSW |
17 |
6,101,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R0076:Serac1
|
UTSW |
17 |
6,115,212 (GRCm39) |
splice site |
probably benign |
|
R0076:Serac1
|
UTSW |
17 |
6,115,212 (GRCm39) |
splice site |
probably benign |
|
R0127:Serac1
|
UTSW |
17 |
6,099,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R0211:Serac1
|
UTSW |
17 |
6,100,335 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0245:Serac1
|
UTSW |
17 |
6,102,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R0538:Serac1
|
UTSW |
17 |
6,099,101 (GRCm39) |
splice site |
probably benign |
|
R0652:Serac1
|
UTSW |
17 |
6,102,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R0988:Serac1
|
UTSW |
17 |
6,111,855 (GRCm39) |
missense |
probably benign |
0.02 |
R1965:Serac1
|
UTSW |
17 |
6,099,274 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1984:Serac1
|
UTSW |
17 |
6,095,964 (GRCm39) |
splice site |
probably null |
|
R2145:Serac1
|
UTSW |
17 |
6,101,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R3426:Serac1
|
UTSW |
17 |
6,117,053 (GRCm39) |
missense |
probably benign |
0.04 |
R3921:Serac1
|
UTSW |
17 |
6,117,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R4760:Serac1
|
UTSW |
17 |
6,102,065 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4958:Serac1
|
UTSW |
17 |
6,119,657 (GRCm39) |
missense |
probably benign |
0.15 |
R5552:Serac1
|
UTSW |
17 |
6,106,967 (GRCm39) |
nonsense |
probably null |
|
R5874:Serac1
|
UTSW |
17 |
6,094,188 (GRCm39) |
unclassified |
probably benign |
|
R5964:Serac1
|
UTSW |
17 |
6,115,324 (GRCm39) |
missense |
probably benign |
|
R6614:Serac1
|
UTSW |
17 |
6,095,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R6794:Serac1
|
UTSW |
17 |
6,101,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R6949:Serac1
|
UTSW |
17 |
6,102,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R7157:Serac1
|
UTSW |
17 |
6,124,476 (GRCm39) |
missense |
probably benign |
|
R7161:Serac1
|
UTSW |
17 |
6,115,351 (GRCm39) |
missense |
probably damaging |
0.97 |
R7426:Serac1
|
UTSW |
17 |
6,119,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R8270:Serac1
|
UTSW |
17 |
6,101,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R8733:Serac1
|
UTSW |
17 |
6,100,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R8785:Serac1
|
UTSW |
17 |
6,094,477 (GRCm39) |
missense |
probably damaging |
0.99 |
R9057:Serac1
|
UTSW |
17 |
6,111,890 (GRCm39) |
missense |
probably damaging |
0.98 |
R9657:Serac1
|
UTSW |
17 |
6,119,658 (GRCm39) |
missense |
probably benign |
0.04 |
Z1088:Serac1
|
UTSW |
17 |
6,099,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |