Incidental Mutation 'R3921:Serac1'
| ID |
500473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serac1
|
| Ensembl Gene |
ENSMUSG00000015659 |
| Gene Name |
serine active site containing 1 |
| Synonyms |
4930511N22Rik, D17Ertd141e |
| MMRRC Submission |
040818-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3921 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
6092471-6130016 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6117067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 163
(D163G)
|
| 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: D133G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659
AA Change: D133G
| 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: D163G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659
AA Change: D163G
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
A |
3: 59,659,498 (GRCm39) |
L317Q |
probably damaging |
Het |
| Aebp2 |
C |
T |
6: 140,579,461 (GRCm39) |
R11C |
probably damaging |
Het |
| Anxa8 |
T |
C |
14: 33,816,403 (GRCm39) |
F201L |
probably damaging |
Het |
| Armh4 |
A |
G |
14: 50,011,659 (GRCm39) |
F16S |
probably benign |
Het |
| Bcl7a |
A |
G |
5: 123,509,136 (GRCm39) |
N206S |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,934,014 (GRCm39) |
N2542D |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,331,488 (GRCm39) |
Y2562H |
probably damaging |
Het |
| Dnah12 |
C |
G |
14: 26,493,008 (GRCm39) |
D1256E |
probably damaging |
Het |
| Dnajb14 |
A |
T |
3: 137,610,613 (GRCm39) |
R280S |
probably damaging |
Het |
| Dop1a |
A |
T |
9: 86,402,324 (GRCm39) |
I1173F |
probably benign |
Het |
| Fam228a |
T |
C |
12: 4,781,506 (GRCm39) |
T118A |
probably benign |
Het |
| Gata2 |
TGCCATGGGCTAGGCAAGCC |
TGCC |
6: 88,182,464 (GRCm39) |
|
probably null |
Het |
| Hif3a |
T |
C |
7: 16,771,097 (GRCm39) |
D618G |
possibly damaging |
Het |
| Ighv1-43 |
C |
A |
12: 114,909,772 (GRCm39) |
G50V |
probably benign |
Het |
| Lrrc37a |
G |
T |
11: 103,392,296 (GRCm39) |
T1043N |
probably benign |
Het |
| Masp2 |
T |
A |
4: 148,690,188 (GRCm39) |
D232E |
possibly damaging |
Het |
| Ms4a4a |
A |
C |
19: 11,356,172 (GRCm39) |
Q19P |
probably benign |
Het |
| Nckipsd |
A |
G |
9: 108,691,275 (GRCm39) |
E399G |
possibly damaging |
Het |
| Nnt |
T |
A |
13: 119,503,030 (GRCm39) |
T572S |
probably damaging |
Het |
| Olig3 |
A |
G |
10: 19,232,423 (GRCm39) |
D16G |
probably damaging |
Het |
| Or4a74 |
C |
T |
2: 89,439,853 (GRCm39) |
V198I |
probably benign |
Het |
| Or5p57 |
T |
A |
7: 107,665,108 (GRCm39) |
D299V |
possibly damaging |
Het |
| Polr2b |
T |
C |
5: 77,474,500 (GRCm39) |
Y446H |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,755,629 (GRCm39) |
V277A |
probably damaging |
Het |
| Rnf31 |
T |
C |
14: 55,838,599 (GRCm39) |
Y857H |
probably damaging |
Het |
| Slc22a22 |
C |
A |
15: 57,119,940 (GRCm39) |
V197F |
probably benign |
Het |
| Slc2a10 |
C |
T |
2: 165,357,521 (GRCm39) |
P394S |
probably benign |
Het |
| Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
| St7 |
A |
G |
6: 17,846,244 (GRCm39) |
N120D |
probably benign |
Het |
| Sult2a6 |
C |
T |
7: 13,988,668 (GRCm39) |
V31M |
possibly damaging |
Het |
| Taf3 |
T |
C |
2: 10,053,109 (GRCm39) |
T35A |
probably benign |
Het |
| Tmem131l |
A |
G |
3: 83,847,908 (GRCm39) |
I319T |
possibly damaging |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ttc23l |
T |
TTGGATG |
15: 10,537,649 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Vmn2r9 |
T |
G |
5: 108,996,921 (GRCm39) |
Y116S |
probably benign |
Het |
| Vstm2l |
A |
G |
2: 157,777,283 (GRCm39) |
T54A |
probably benign |
Het |
| Xrn1 |
T |
A |
9: 95,851,337 (GRCm39) |
M153K |
probably benign |
Het |
| Zfp106 |
G |
A |
2: 120,364,097 (GRCm39) |
P770L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCCACACTAGGAGCATGTG -3'
(R):5'- TTCCTGGGAAGCCAGATCAG -3'
Sequencing Primer
(F):5'- GTGCTTCCACTCCCTTATTAACATG -3'
(R):5'- ATTTCTGAGGTCAAGGCCAGC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation