Incidental Mutation 'R6794:Serac1'
| ID |
531680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serac1
|
| Ensembl Gene |
ENSMUSG00000015659 |
| Gene Name |
serine active site containing 1 |
| Synonyms |
4930511N22Rik, D17Ertd141e |
| MMRRC Submission |
044907-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6794 (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 6101985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 430
(Y430H)
|
| 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: Y400H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659
AA Change: Y400H
| 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: Y430H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659
AA Change: Y430H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
89 |
464 |
3e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt |
T |
C |
1: 93,063,104 (GRCm39) |
V30A |
possibly damaging |
Het |
| Atf7 |
T |
C |
15: 102,465,900 (GRCm39) |
K87E |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,641,624 (GRCm39) |
S932P |
probably benign |
Het |
| Btg4 |
A |
C |
9: 51,030,651 (GRCm39) |
K250N |
possibly damaging |
Het |
| Cracdl |
A |
G |
1: 37,676,936 (GRCm39) |
|
probably null |
Het |
| Cyc1 |
A |
G |
15: 76,228,850 (GRCm39) |
Y132C |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,445,667 (GRCm39) |
D137E |
possibly damaging |
Het |
| Ddr2 |
C |
A |
1: 169,809,667 (GRCm39) |
W770L |
probably damaging |
Het |
| Disc1 |
T |
C |
8: 125,814,514 (GRCm39) |
V126A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,099,805 (GRCm39) |
N643D |
probably benign |
Het |
| Gabrg1 |
C |
T |
5: 70,973,314 (GRCm39) |
R75H |
probably damaging |
Het |
| Gm14418 |
A |
T |
2: 177,079,631 (GRCm39) |
H121Q |
probably damaging |
Het |
| H2-Ob |
T |
A |
17: 34,460,162 (GRCm39) |
L20Q |
possibly damaging |
Het |
| Herpud1 |
T |
A |
8: 95,121,398 (GRCm39) |
|
probably null |
Het |
| Ica1 |
T |
C |
6: 8,653,659 (GRCm39) |
D326G |
probably benign |
Het |
| Jph3 |
T |
C |
8: 122,512,124 (GRCm39) |
L704P |
probably benign |
Het |
| Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
T |
G |
17: 17,751,421 (GRCm39) |
N948T |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,741,893 (GRCm39) |
V3888D |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,363,289 (GRCm39) |
|
probably benign |
Het |
| Nfkb2 |
T |
C |
19: 46,296,159 (GRCm39) |
|
probably null |
Het |
| Pik3r2 |
T |
C |
8: 71,223,361 (GRCm39) |
H380R |
probably benign |
Het |
| Prim1 |
T |
C |
10: 127,854,018 (GRCm39) |
S124P |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,675 (GRCm39) |
T57A |
possibly damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,671,120 (GRCm39) |
T213A |
probably damaging |
Het |
| Sapcd2 |
A |
G |
2: 25,266,379 (GRCm39) |
S389G |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,364,955 (GRCm39) |
Q421R |
probably damaging |
Het |
| Shf |
A |
G |
2: 122,184,321 (GRCm39) |
L234P |
probably damaging |
Het |
| Slc22a29 |
G |
T |
19: 8,138,887 (GRCm39) |
S525Y |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,950,519 (GRCm39) |
|
probably null |
Het |
| Tln2 |
T |
C |
9: 67,193,840 (GRCm39) |
D666G |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,797,992 (GRCm39) |
E502K |
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,899,348 (GRCm39) |
H852L |
possibly damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,387,204 (GRCm39) |
F787L |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,483,839 (GRCm39) |
A169V |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,043,655 (GRCm39) |
H131R |
unknown |
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 |
|
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'- CACAAGCCCCGCTGATAATG -3'
(R):5'- TCACGTCAGCCTGCTAAAGC -3'
Sequencing Primer
(F):5'- TGAAAAATCCCATGAATGTCTCC -3'
(R):5'- GTAGCTTGCCACAGTAGTAATGC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation