Incidental Mutation 'R4958:Serac1'
| ID |
381728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serac1
|
| Ensembl Gene |
ENSMUSG00000015659 |
| Gene Name |
serine active site containing 1 |
| Synonyms |
4930511N22Rik, D17Ertd141e |
| MMRRC Submission |
042555-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4958 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
6092471-6130016 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6119657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 91
(V91D)
|
| 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
AA Change: V91D
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659
AA Change: V91D
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd7 |
A |
G |
6: 18,866,722 (GRCm39) |
S81G |
probably benign |
Het |
| Arel1 |
T |
C |
12: 84,973,078 (GRCm39) |
K573R |
possibly damaging |
Het |
| Atf7ip |
C |
T |
6: 136,583,808 (GRCm39) |
R1280C |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,058,718 (GRCm39) |
D909V |
probably damaging |
Het |
| Cdh2 |
T |
G |
18: 16,760,622 (GRCm39) |
|
probably null |
Het |
| Col6a1 |
A |
T |
10: 76,559,339 (GRCm39) |
I99N |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,699,916 (GRCm39) |
T256A |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Ereg |
T |
C |
5: 91,237,970 (GRCm39) |
V152A |
probably damaging |
Het |
| Gm4950 |
T |
C |
18: 51,998,641 (GRCm39) |
T105A |
probably benign |
Het |
| Hsf2 |
T |
C |
10: 57,377,467 (GRCm39) |
I121T |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,759,764 (GRCm39) |
L728Q |
probably damaging |
Het |
| Llgl1 |
G |
T |
11: 60,602,261 (GRCm39) |
R768L |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,810,048 (GRCm39) |
I573V |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,369,157 (GRCm39) |
T303K |
probably damaging |
Het |
| Map3k5 |
A |
T |
10: 19,899,535 (GRCm39) |
Q264L |
possibly damaging |
Het |
| Mboat1 |
T |
C |
13: 30,408,376 (GRCm39) |
S180P |
probably damaging |
Het |
| Mfsd6 |
T |
C |
1: 52,700,183 (GRCm39) |
D655G |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,083,785 (GRCm39) |
E1521G |
possibly damaging |
Het |
| Nsd2 |
T |
A |
5: 34,049,366 (GRCm39) |
S1200R |
probably damaging |
Het |
| Or51k2 |
T |
C |
7: 103,595,808 (GRCm39) |
F12L |
probably damaging |
Het |
| Or52n2b |
T |
C |
7: 104,565,668 (GRCm39) |
I278M |
probably damaging |
Het |
| Or6z3 |
G |
A |
7: 6,464,057 (GRCm39) |
C183Y |
probably damaging |
Het |
| Or8h9 |
T |
C |
2: 86,789,449 (GRCm39) |
M118V |
possibly damaging |
Het |
| Pbrm1 |
T |
C |
14: 30,796,784 (GRCm39) |
I875T |
probably damaging |
Het |
| Pla2g1b |
T |
A |
5: 115,608,885 (GRCm39) |
F26I |
probably damaging |
Het |
| Plscr4 |
A |
G |
9: 92,366,814 (GRCm39) |
N143D |
possibly damaging |
Het |
| Rab11fip1 |
G |
T |
8: 27,644,841 (GRCm39) |
R315S |
probably damaging |
Het |
| Rptor |
G |
A |
11: 119,748,217 (GRCm39) |
R727Q |
probably benign |
Het |
| Slco1a6 |
C |
A |
6: 142,091,431 (GRCm39) |
G90C |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,867,134 (GRCm39) |
Y106C |
probably benign |
Het |
| Syt13 |
G |
A |
2: 92,783,794 (GRCm39) |
V355M |
probably damaging |
Het |
| Tjp1 |
G |
A |
7: 64,985,850 (GRCm39) |
R314* |
probably null |
Het |
| Tshr |
A |
G |
12: 91,504,961 (GRCm39) |
D633G |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Znrf4 |
A |
G |
17: 56,818,701 (GRCm39) |
F202S |
probably damaging |
Het |
| Zswim8 |
T |
A |
14: 20,763,533 (GRCm39) |
W427R |
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 |
|
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'- GGAAGTTCTTCTGCCAGCTTC -3'
(R):5'- AAATGTGTTGCCACTTACAGC -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- CACTTACAGCGGCAATAAGAGGTC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation