Incidental Mutation 'R3427:Plscr4'
| ID |
267921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plscr4
|
| Ensembl Gene |
ENSMUSG00000032377 |
| Gene Name |
phospholipid scramblase 4 |
| Synonyms |
|
| MMRRC Submission |
040645-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R3427 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
92339431-92374509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92370797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 255
(S255P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034941]
|
| AlphaFold |
P58196 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034941
AA Change: S255P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034941
Gene: ENSMUSG00000032377
AA Change: S255P
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
T |
A |
9: 107,806,969 (GRCm39) |
F431I |
probably damaging |
Het |
| Asb18 |
C |
T |
1: 89,896,315 (GRCm39) |
G242S |
probably damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,163,411 (GRCm39) |
I582V |
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,117,244 (GRCm39) |
I291M |
probably benign |
Het |
| Bsph1 |
T |
C |
7: 13,206,168 (GRCm39) |
Y78H |
probably damaging |
Het |
| Chd6 |
G |
T |
2: 160,832,175 (GRCm39) |
T999N |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,213,653 (GRCm39) |
V795E |
probably damaging |
Het |
| Crhr1 |
A |
G |
11: 104,064,419 (GRCm39) |
|
probably null |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ctbp2 |
A |
T |
7: 132,593,321 (GRCm39) |
H793Q |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,529,190 (GRCm39) |
M805V |
probably benign |
Het |
| Dctn3 |
T |
C |
4: 41,719,858 (GRCm39) |
K83E |
probably damaging |
Het |
| Ep300 |
A |
G |
15: 81,485,480 (GRCm39) |
N156D |
unknown |
Het |
| Epb42 |
A |
T |
2: 120,860,520 (GRCm39) |
L160M |
probably damaging |
Het |
| Exosc2 |
T |
C |
2: 31,569,900 (GRCm39) |
L237P |
probably damaging |
Het |
| Fiz1 |
A |
G |
7: 5,015,708 (GRCm39) |
F94S |
probably damaging |
Het |
| Gm5422 |
A |
G |
10: 31,124,842 (GRCm39) |
|
noncoding transcript |
Het |
| Igsf9b |
T |
C |
9: 27,245,873 (GRCm39) |
F1280S |
probably damaging |
Het |
| Igtp |
G |
A |
11: 58,097,419 (GRCm39) |
V197I |
probably damaging |
Het |
| Kcnh1 |
T |
C |
1: 191,924,238 (GRCm39) |
F151L |
probably benign |
Het |
| Nudc |
C |
T |
4: 133,261,568 (GRCm39) |
G239S |
probably benign |
Het |
| Or6c215 |
T |
C |
10: 129,637,720 (GRCm39) |
K225E |
possibly damaging |
Het |
| Plekhb1 |
T |
C |
7: 100,294,857 (GRCm39) |
Y172C |
probably damaging |
Het |
| Rbm26 |
A |
G |
14: 105,368,968 (GRCm39) |
V737A |
probably damaging |
Het |
| Rps6ka4 |
C |
A |
19: 6,815,123 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGTCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rttn |
G |
A |
18: 89,113,775 (GRCm39) |
|
probably null |
Het |
| Slc22a5 |
A |
G |
11: 53,760,152 (GRCm39) |
V388A |
probably benign |
Het |
| Strip1 |
T |
C |
3: 107,524,138 (GRCm39) |
H593R |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,783,666 (GRCm39) |
C603S |
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpc1 |
C |
T |
9: 95,614,249 (GRCm39) |
R5Q |
probably benign |
Het |
| Trpv3 |
A |
T |
11: 73,176,767 (GRCm39) |
Y382F |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
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 |
|
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 |
|
R5126:Plscr4
|
UTSW |
9 |
92,370,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TAACCATGAGGAACCACGTGC -3'
Sequencing Primer
(F):5'- TTGTGCACAAAAAGCATCCG -3'
(R):5'- CCACGTGCAAAGGGTTGATGC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation