Incidental Mutation 'R5126:Plscr4'
ID |
393560 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plscr4
|
Ensembl Gene |
ENSMUSG00000032377 |
Gene Name |
phospholipid scramblase 4 |
Synonyms |
|
MMRRC Submission |
042714-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R5126 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
92339431-92374509 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 92370794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 254
(D254N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034941
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034941]
|
AlphaFold |
P58196 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034941
AA Change: D254N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034941 Gene: ENSMUSG00000032377 AA Change: D254N
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
51 |
N/A |
INTRINSIC |
Pfam:Scramblase
|
96 |
318 |
7.5e-87 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143866
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
G |
A |
2: 26,886,927 (GRCm39) |
|
probably null |
Het |
Ahdc1 |
T |
A |
4: 132,790,833 (GRCm39) |
F691L |
probably benign |
Het |
Ahsa2 |
T |
A |
11: 23,441,036 (GRCm39) |
I202F |
possibly damaging |
Het |
Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
Cep164 |
A |
G |
9: 45,698,722 (GRCm39) |
|
probably null |
Het |
Cltc |
A |
G |
11: 86,603,495 (GRCm39) |
V781A |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,402,724 (GRCm39) |
S3273P |
probably damaging |
Het |
Dnajc16 |
C |
A |
4: 141,501,820 (GRCm39) |
V337L |
probably benign |
Het |
Fstl4 |
T |
C |
11: 53,077,388 (GRCm39) |
V715A |
possibly damaging |
Het |
Grik1 |
C |
T |
16: 87,744,747 (GRCm39) |
G502S |
probably damaging |
Het |
Ifi213 |
A |
G |
1: 173,417,581 (GRCm39) |
V277A |
possibly damaging |
Het |
Ints15 |
G |
T |
5: 143,293,701 (GRCm39) |
P259T |
probably benign |
Het |
Jph3 |
T |
C |
8: 122,479,787 (GRCm39) |
V155A |
possibly damaging |
Het |
Katnal2 |
T |
C |
18: 77,105,294 (GRCm39) |
E51G |
probably benign |
Het |
Kcna2 |
T |
A |
3: 107,011,550 (GRCm39) |
F44I |
probably damaging |
Het |
Kcna6 |
T |
C |
6: 126,715,695 (GRCm39) |
E398G |
probably damaging |
Het |
Kif15 |
A |
T |
9: 122,804,823 (GRCm39) |
H190L |
probably damaging |
Het |
Lmbrd2 |
A |
G |
15: 9,194,788 (GRCm39) |
R597G |
possibly damaging |
Het |
Lrtm2 |
T |
A |
6: 119,294,400 (GRCm39) |
M244L |
probably benign |
Het |
Ly6c2 |
A |
C |
15: 74,983,492 (GRCm39) |
S9A |
possibly damaging |
Het |
Mbd4 |
T |
A |
6: 115,825,929 (GRCm39) |
|
probably null |
Het |
Mfsd2b |
A |
G |
12: 4,916,183 (GRCm39) |
I269T |
probably benign |
Het |
Muc6 |
A |
T |
7: 141,237,564 (GRCm39) |
C218S |
probably damaging |
Het |
Nlrc5 |
G |
T |
8: 95,201,299 (GRCm39) |
R131L |
possibly damaging |
Het |
Nlrp1b |
A |
T |
11: 71,072,359 (GRCm39) |
C495S |
possibly damaging |
Het |
Nsf |
C |
A |
11: 103,773,618 (GRCm39) |
E299* |
probably null |
Het |
Obscn |
T |
A |
11: 58,967,889 (GRCm39) |
E336D |
probably damaging |
Het |
Or14j9 |
G |
T |
17: 37,874,719 (GRCm39) |
T161K |
probably benign |
Het |
Pan3 |
A |
G |
5: 147,464,008 (GRCm39) |
N587S |
probably benign |
Het |
Pgap6 |
T |
C |
17: 26,340,614 (GRCm39) |
I666T |
probably damaging |
Het |
Plch2 |
T |
C |
4: 155,084,976 (GRCm39) |
D321G |
probably damaging |
Het |
Pnma8a |
A |
C |
7: 16,695,242 (GRCm39) |
M366L |
probably benign |
Het |
Pnpla7 |
G |
T |
2: 24,870,056 (GRCm39) |
C12F |
possibly damaging |
Het |
Ptprk |
G |
T |
10: 28,451,640 (GRCm39) |
|
probably null |
Het |
Rgs22 |
A |
G |
15: 36,040,790 (GRCm39) |
V899A |
probably damaging |
Het |
Ruvbl1 |
T |
A |
6: 88,462,883 (GRCm39) |
C336S |
probably benign |
Het |
Slc27a5 |
T |
A |
7: 12,725,247 (GRCm39) |
H400L |
probably damaging |
Het |
Slc66a1 |
T |
C |
4: 139,029,843 (GRCm39) |
T63A |
probably benign |
Het |
Slco1a4 |
A |
T |
6: 141,761,308 (GRCm39) |
V435D |
possibly damaging |
Het |
Snx14 |
A |
T |
9: 88,264,152 (GRCm39) |
Y818N |
probably damaging |
Het |
Tln2 |
A |
G |
9: 67,165,817 (GRCm39) |
I2098T |
probably damaging |
Het |
Tlr11 |
T |
C |
14: 50,598,287 (GRCm39) |
L91P |
probably damaging |
Het |
Tmem208 |
T |
A |
8: 106,061,282 (GRCm39) |
F103I |
probably benign |
Het |
Vmn2r3 |
C |
T |
3: 64,166,740 (GRCm39) |
C797Y |
probably damaging |
Het |
Vwde |
T |
A |
6: 13,187,259 (GRCm39) |
M743L |
probably benign |
Het |
Wdcp |
C |
A |
12: 4,900,617 (GRCm39) |
R158S |
probably damaging |
Het |
Zfp773 |
T |
C |
7: 7,139,623 (GRCm39) |
T9A |
unknown |
Het |
|
Other mutations in Plscr4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00763:Plscr4
|
APN |
9 |
92,366,998 (GRCm39) |
missense |
probably null |
1.00 |
IGL02506:Plscr4
|
APN |
9 |
92,372,044 (GRCm39) |
missense |
possibly damaging |
0.67 |
BB009:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
BB019:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
R0331:Plscr4
|
UTSW |
9 |
92,364,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R0360:Plscr4
|
UTSW |
9 |
92,370,814 (GRCm39) |
splice site |
probably benign |
|
R0838:Plscr4
|
UTSW |
9 |
92,353,813 (GRCm39) |
splice site |
probably benign |
|
R0898:Plscr4
|
UTSW |
9 |
92,366,806 (GRCm39) |
missense |
probably damaging |
0.98 |
R1845:Plscr4
|
UTSW |
9 |
92,372,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R1895:Plscr4
|
UTSW |
9 |
92,365,889 (GRCm39) |
missense |
probably damaging |
0.99 |
R1946:Plscr4
|
UTSW |
9 |
92,365,889 (GRCm39) |
missense |
probably damaging |
0.99 |
R2127:Plscr4
|
UTSW |
9 |
92,370,683 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3427:Plscr4
|
UTSW |
9 |
92,370,797 (GRCm39) |
missense |
probably damaging |
0.99 |
R4670:Plscr4
|
UTSW |
9 |
92,364,920 (GRCm39) |
critical splice donor site |
probably null |
|
R4764:Plscr4
|
UTSW |
9 |
92,366,833 (GRCm39) |
missense |
probably damaging |
0.99 |
R4958:Plscr4
|
UTSW |
9 |
92,366,814 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5424:Plscr4
|
UTSW |
9 |
92,372,075 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6250:Plscr4
|
UTSW |
9 |
92,366,881 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6476:Plscr4
|
UTSW |
9 |
92,372,819 (GRCm39) |
missense |
probably benign |
0.01 |
R6775:Plscr4
|
UTSW |
9 |
92,364,858 (GRCm39) |
missense |
probably benign |
|
R6810:Plscr4
|
UTSW |
9 |
92,365,889 (GRCm39) |
missense |
probably damaging |
0.99 |
R6982:Plscr4
|
UTSW |
9 |
92,364,796 (GRCm39) |
missense |
probably benign |
0.00 |
R7127:Plscr4
|
UTSW |
9 |
92,372,831 (GRCm39) |
nonsense |
probably null |
|
R7190:Plscr4
|
UTSW |
9 |
92,370,694 (GRCm39) |
missense |
probably benign |
0.11 |
R7741:Plscr4
|
UTSW |
9 |
92,364,693 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7818:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
R7819:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
R7837:Plscr4
|
UTSW |
9 |
92,366,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R7932:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
R7938:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
R7940:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
R8004:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
R8005:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
R8008:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
R8346:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
R8348:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
R8423:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
R8426:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
R8427:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
R8507:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
R8509:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
R8510:Plscr4
|
UTSW |
9 |
92,372,843 (GRCm39) |
nonsense |
probably null |
|
R9070:Plscr4
|
UTSW |
9 |
92,372,281 (GRCm39) |
intron |
probably benign |
|
R9240:Plscr4
|
UTSW |
9 |
92,366,934 (GRCm39) |
missense |
probably benign |
0.03 |
R9628:Plscr4
|
UTSW |
9 |
92,354,985 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGCATATGTGTGTACGTGC -3'
(R):5'- AACCACGTGCAAAGGGTTG -3'
Sequencing Primer
(F):5'- TTGTGCACAAAAAGCATCCG -3'
(R):5'- CACGTGCAAAGGGTTGATGCC -3'
|
Posted On |
2016-06-15 |