Incidental Mutation 'R6614:Serac1'
ID |
523880 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serac1
|
Ensembl Gene |
ENSMUSG00000015659 |
Gene Name |
serine active site containing 1 |
Synonyms |
4930511N22Rik, D17Ertd141e |
MMRRC Submission |
044737-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6614 (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 T
at 6095937 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 604
(V604E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095043
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024570]
[ENSMUST00000061091]
[ENSMUST00000097432]
[ENSMUST00000115788]
|
AlphaFold |
Q3U213 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024570
AA Change: V574E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000024570 Gene: ENSMUSG00000015659 AA Change: V574E
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: ENSMUST00000061091
|
SMART Domains |
Protein: ENSMUSP00000060382 Gene: ENSMUSG00000023805
Domain | Start | End | E-Value | Type |
Pfam:Syja_N
|
1 |
263 |
2.5e-72 |
PFAM |
Blast:IPPc
|
394 |
423 |
3e-6 |
BLAST |
IPPc
|
443 |
785 |
3.72e-128 |
SMART |
DUF1866
|
778 |
923 |
1.04e-73 |
SMART |
low complexity region
|
926 |
940 |
N/A |
INTRINSIC |
low complexity region
|
965 |
976 |
N/A |
INTRINSIC |
low complexity region
|
1012 |
1027 |
N/A |
INTRINSIC |
low complexity region
|
1127 |
1139 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097432
AA Change: V604E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095043 Gene: ENSMUSG00000015659 AA Change: V604E
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: ENSMUST00000115788
|
SMART Domains |
Protein: ENSMUSP00000111454 Gene: ENSMUSG00000023805
Domain | Start | End | E-Value | Type |
Pfam:Syja_N
|
1 |
108 |
4.8e-28 |
PFAM |
Blast:IPPc
|
239 |
268 |
2e-6 |
BLAST |
IPPc
|
288 |
630 |
3.72e-128 |
SMART |
DUF1866
|
623 |
768 |
1.04e-73 |
SMART |
low complexity region
|
771 |
785 |
N/A |
INTRINSIC |
low complexity region
|
810 |
821 |
N/A |
INTRINSIC |
low complexity region
|
927 |
939 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144284
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153325
|
Meta Mutation Damage Score |
0.9606 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
Validation Efficiency |
98% (46/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810004N23Rik |
T |
A |
8: 125,587,986 (GRCm39) |
|
probably null |
Het |
Abca13 |
A |
T |
11: 9,244,371 (GRCm39) |
N2078I |
probably benign |
Het |
Abcc2 |
A |
G |
19: 43,807,800 (GRCm39) |
I814V |
probably benign |
Het |
Adamts4 |
A |
G |
1: 171,084,193 (GRCm39) |
R557G |
probably benign |
Het |
Bltp3a |
T |
A |
17: 28,095,899 (GRCm39) |
I70N |
probably benign |
Het |
Bysl |
A |
T |
17: 47,912,767 (GRCm39) |
L341Q |
probably damaging |
Het |
Csmd1 |
C |
T |
8: 17,266,803 (GRCm39) |
G41D |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 117,850,411 (GRCm39) |
D4221G |
possibly damaging |
Het |
Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
Dnajc21 |
A |
G |
15: 10,470,349 (GRCm39) |
|
probably null |
Het |
Elavl1 |
C |
A |
8: 4,339,818 (GRCm39) |
A255S |
probably damaging |
Het |
Filip1 |
C |
T |
9: 79,723,121 (GRCm39) |
G1166D |
probably damaging |
Het |
Gnptg |
T |
C |
17: 25,454,235 (GRCm39) |
Y184C |
probably damaging |
Het |
Ifit3b |
A |
T |
19: 34,588,919 (GRCm39) |
S32C |
probably benign |
Het |
Kcnh7 |
T |
G |
2: 62,607,940 (GRCm39) |
Y547S |
probably damaging |
Het |
Lima1 |
G |
A |
15: 99,681,461 (GRCm39) |
A243V |
probably damaging |
Het |
Mast3 |
T |
A |
8: 71,234,610 (GRCm39) |
I67F |
possibly damaging |
Het |
Ncor1 |
A |
C |
11: 62,221,645 (GRCm39) |
M1283R |
probably benign |
Het |
Ndufv1 |
G |
A |
19: 4,058,749 (GRCm39) |
T253I |
probably benign |
Het |
Neurog1 |
G |
T |
13: 56,399,637 (GRCm39) |
Q37K |
probably benign |
Het |
Nol4 |
T |
G |
18: 23,053,913 (GRCm39) |
K200Q |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,903,627 (GRCm39) |
H7599R |
probably benign |
Het |
Oog4 |
A |
G |
4: 143,164,445 (GRCm39) |
V362A |
possibly damaging |
Het |
Oosp1 |
T |
A |
19: 11,668,314 (GRCm39) |
D23V |
probably damaging |
Het |
Or11a4 |
T |
C |
17: 37,536,790 (GRCm39) |
V258A |
probably benign |
Het |
Or11g24 |
C |
T |
14: 50,662,546 (GRCm39) |
T190I |
probably benign |
Het |
Or4k1 |
T |
A |
14: 50,377,821 (GRCm39) |
I92F |
probably damaging |
Het |
Or4n4b |
T |
A |
14: 50,536,494 (GRCm39) |
I91L |
probably benign |
Het |
Or7a41 |
C |
A |
10: 78,870,925 (GRCm39) |
C98* |
probably null |
Het |
P2rx3 |
A |
G |
2: 84,865,543 (GRCm39) |
I34T |
probably damaging |
Het |
Pate7 |
A |
G |
9: 35,688,421 (GRCm39) |
W55R |
probably damaging |
Het |
Pla2g4a |
A |
T |
1: 149,717,986 (GRCm39) |
V621E |
probably benign |
Het |
Prpf39 |
T |
G |
12: 65,089,337 (GRCm39) |
V25G |
probably benign |
Het |
Psd |
T |
C |
19: 46,301,851 (GRCm39) |
K913E |
probably benign |
Het |
Ptx4 |
A |
T |
17: 25,341,676 (GRCm39) |
R50S |
possibly damaging |
Het |
Rex2 |
A |
T |
4: 147,137,018 (GRCm39) |
M16L |
probably benign |
Het |
Sp140l2 |
A |
C |
1: 85,179,781 (GRCm39) |
|
probably null |
Het |
Spata31h1 |
T |
A |
10: 82,127,482 (GRCm39) |
N1843Y |
probably benign |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Stxbp6 |
T |
A |
12: 44,908,058 (GRCm39) |
T187S |
probably benign |
Het |
Tg |
G |
A |
15: 66,607,108 (GRCm39) |
C215Y |
probably damaging |
Het |
Top2b |
A |
T |
14: 16,407,142 (GRCm38) |
K671* |
probably null |
Het |
Trmt1 |
G |
T |
8: 85,415,962 (GRCm39) |
V7L |
probably benign |
Het |
Ttn |
C |
T |
2: 76,615,174 (GRCm39) |
R15102H |
probably benign |
Het |
Unc79 |
A |
T |
12: 102,957,689 (GRCm39) |
I35F |
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 |
|
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'- CGCTTGCAGAGGGTTTTAATC -3'
(R):5'- GCCCGGCATGAATCAGAAAC -3'
Sequencing Primer
(F):5'- TCTGGTGCTGAAGAGTGAAATC -3'
(R):5'- TCCTCTCTGAGTTAAATACGAACAC -3'
|
Posted On |
2018-06-22 |