Incidental Mutation 'R8733:Serac1'
| ID |
662887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serac1
|
| Ensembl Gene |
ENSMUSG00000015659 |
| Gene Name |
serine active site containing 1 |
| Synonyms |
4930511N22Rik, D17Ertd141e |
| MMRRC Submission |
068581-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8733 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
6092471-6130016 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6100303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 479
(L479P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024570]
[ENSMUST00000097432]
|
| AlphaFold |
Q3U213 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024570
AA Change: L449P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659
AA Change: L449P
| 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 damaging
Transcript: ENSMUST00000097432
AA Change: L479P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659
AA Change: L479P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
89 |
464 |
3e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,249,627 (GRCm39) |
L1106P |
probably damaging |
Het |
| Alx3 |
C |
G |
3: 107,512,135 (GRCm39) |
P258A |
probably damaging |
Het |
| Bbs9 |
A |
G |
9: 22,582,128 (GRCm39) |
T607A |
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,891,111 (GRCm39) |
V644E |
possibly damaging |
Het |
| Cep85 |
T |
C |
4: 133,875,472 (GRCm39) |
K499E |
possibly damaging |
Het |
| Chd5 |
A |
T |
4: 152,463,923 (GRCm39) |
H1464L |
probably damaging |
Het |
| Chrne |
A |
G |
11: 70,507,856 (GRCm39) |
L281P |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,379,472 (GRCm39) |
|
probably benign |
Het |
| Cpsf4l |
A |
G |
11: 113,600,279 (GRCm39) |
F13L |
possibly damaging |
Het |
| Dgcr8 |
T |
C |
16: 18,077,825 (GRCm39) |
I603V |
probably benign |
Het |
| Dhx16 |
A |
G |
17: 36,192,267 (GRCm39) |
D102G |
probably benign |
Het |
| Dnm1 |
G |
T |
2: 32,206,987 (GRCm39) |
D564E |
probably benign |
Het |
| Dync1li1 |
T |
A |
9: 114,534,178 (GRCm39) |
Y93N |
probably damaging |
Het |
| Esp31 |
A |
G |
17: 38,955,509 (GRCm39) |
I51V |
probably benign |
Het |
| Grap |
G |
T |
11: 61,562,517 (GRCm39) |
A163S |
possibly damaging |
Het |
| Hgs |
G |
A |
11: 120,360,954 (GRCm39) |
|
probably null |
Het |
| Icosl |
A |
T |
10: 77,909,697 (GRCm39) |
N214I |
probably damaging |
Het |
| Ints6 |
G |
A |
14: 62,934,297 (GRCm39) |
P737S |
probably benign |
Het |
| Irag1 |
C |
T |
7: 110,477,425 (GRCm39) |
V564M |
probably benign |
Het |
| Lima1 |
A |
G |
15: 99,678,699 (GRCm39) |
S581P |
probably damaging |
Het |
| Lrfn2 |
G |
A |
17: 49,403,824 (GRCm39) |
R649H |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,417,532 (GRCm39) |
T3493A |
possibly damaging |
Het |
| Mup4 |
A |
T |
4: 59,958,587 (GRCm39) |
N104K |
probably damaging |
Het |
| Nedd4 |
T |
C |
9: 72,633,766 (GRCm39) |
V424A |
possibly damaging |
Het |
| Or10ag55-ps1 |
A |
T |
2: 87,115,116 (GRCm39) |
I161F |
probably benign |
Het |
| Or6c88 |
T |
A |
10: 129,406,579 (GRCm39) |
D18E |
possibly damaging |
Het |
| Or8d23 |
A |
G |
9: 38,841,985 (GRCm39) |
I173V |
probably benign |
Het |
| Otop1 |
G |
A |
5: 38,457,117 (GRCm39) |
R292H |
probably damaging |
Het |
| Otop1 |
T |
A |
5: 38,457,796 (GRCm39) |
C518* |
probably null |
Het |
| Parp3 |
C |
T |
9: 106,353,150 (GRCm39) |
V9M |
probably benign |
Het |
| Pcdhb20 |
C |
T |
18: 37,638,437 (GRCm39) |
A321V |
probably damaging |
Het |
| Pik3c2g |
C |
T |
6: 139,714,426 (GRCm39) |
Q311* |
probably null |
Het |
| Pkd1l1 |
A |
T |
11: 8,883,657 (GRCm39) |
V855D |
|
Het |
| Polr2k |
T |
A |
15: 36,176,913 (GRCm39) |
D97E |
probably benign |
Het |
| Psmd11 |
A |
G |
11: 80,325,342 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,266,683 (GRCm39) |
T631M |
probably damaging |
Het |
| Ralgps1 |
C |
A |
2: 33,174,836 (GRCm39) |
|
probably null |
Het |
| Rbm18 |
A |
G |
2: 36,024,211 (GRCm39) |
S17P |
probably damaging |
Het |
| Rcc1 |
C |
A |
4: 132,065,515 (GRCm39) |
L49F |
probably benign |
Het |
| Rgma |
T |
C |
7: 73,059,036 (GRCm39) |
S63P |
possibly damaging |
Het |
| Scn1a |
T |
A |
2: 66,154,944 (GRCm39) |
I672L |
probably benign |
Het |
| Sema4c |
T |
C |
1: 36,591,954 (GRCm39) |
T270A |
probably damaging |
Het |
| Slc22a16 |
A |
G |
10: 40,450,061 (GRCm39) |
M187V |
probably benign |
Het |
| Slc41a3 |
A |
T |
6: 90,610,710 (GRCm39) |
T191S |
possibly damaging |
Het |
| Slu7 |
G |
A |
11: 43,334,167 (GRCm39) |
V398M |
probably damaging |
Het |
| Sphk1 |
A |
G |
11: 116,426,451 (GRCm39) |
T136A |
probably benign |
Het |
| Sqstm1 |
G |
T |
11: 50,101,493 (GRCm39) |
P31Q |
possibly damaging |
Het |
| Trappc11 |
A |
T |
8: 47,954,883 (GRCm39) |
V885D |
probably damaging |
Het |
| Trav6-1 |
T |
A |
14: 52,876,213 (GRCm39) |
Y44* |
probably null |
Het |
| Trav9-2 |
T |
A |
14: 53,828,755 (GRCm39) |
C42S |
probably damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,593,168 (GRCm39) |
T194A |
probably benign |
Het |
| Zfp729a |
A |
G |
13: 67,769,104 (GRCm39) |
V375A |
probably damaging |
Het |
|
| Other mutations in Serac1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01326:Serac1
|
APN |
17 |
6,124,528 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCACCCAGACTGTTATTAGC -3'
(R):5'- GTGAATGCTCTTAAGTTAGGCAGC -3'
Sequencing Primer
(F):5'- TTAGCTATCCCCTTCTAAGAAAACG -3'
(R):5'- CTCTTAAGTTAGGCAGCAAGGTTTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation