Incidental Mutation 'R5424:Plscr4'
| ID |
426766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plscr4
|
| Ensembl Gene |
ENSMUSG00000032377 |
| Gene Name |
phospholipid scramblase 4 |
| Synonyms |
|
| MMRRC Submission |
042990-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R5424 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
92339431-92374509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92372075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 282
(M282K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034941]
|
| AlphaFold |
P58196 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034941
AA Change: M282K
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000034941
Gene: ENSMUSG00000032377
AA Change: M282K
| 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
|
| Meta Mutation Damage Score |
0.6317 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
A |
1: 130,670,678 (GRCm39) |
A300D |
probably damaging |
Het |
| Abca14 |
T |
C |
7: 119,810,777 (GRCm39) |
Y119H |
probably benign |
Het |
| Actb |
A |
G |
5: 142,891,306 (GRCm39) |
|
probably benign |
Het |
| Ada |
T |
A |
2: 163,570,045 (GRCm39) |
K323* |
probably null |
Het |
| Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
| Aire |
A |
T |
10: 77,872,553 (GRCm39) |
V355E |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,969,443 (GRCm39) |
I117M |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,789,942 (GRCm39) |
F465L |
probably damaging |
Het |
| Cpne8 |
T |
A |
15: 90,400,260 (GRCm39) |
M345L |
probably benign |
Het |
| Ddx54 |
T |
C |
5: 120,757,926 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
T |
G |
1: 181,590,875 (GRCm39) |
M3256R |
possibly damaging |
Het |
| Epha2 |
T |
A |
4: 141,046,251 (GRCm39) |
Y483* |
probably null |
Het |
| Ermard |
T |
A |
17: 15,280,032 (GRCm39) |
S509T |
possibly damaging |
Het |
| Fam186a |
G |
T |
15: 99,843,644 (GRCm39) |
H867N |
unknown |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gas8 |
C |
A |
8: 124,253,251 (GRCm39) |
L200I |
possibly damaging |
Het |
| Gfra2 |
A |
T |
14: 71,133,287 (GRCm39) |
D39V |
probably damaging |
Het |
| Gm10770 |
T |
C |
2: 150,020,948 (GRCm39) |
T190A |
probably benign |
Het |
| Gm2617 |
T |
C |
19: 9,301,320 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
C |
T |
7: 40,805,017 (GRCm39) |
|
probably benign |
Het |
| Gmppb |
T |
A |
9: 107,929,204 (GRCm39) |
|
probably null |
Het |
| Ifit2 |
T |
A |
19: 34,551,458 (GRCm39) |
C333S |
probably benign |
Het |
| Ighg2b |
T |
C |
12: 113,271,550 (GRCm39) |
K1R |
unknown |
Het |
| Impdh2-ps |
G |
T |
8: 100,758,141 (GRCm39) |
|
noncoding transcript |
Het |
| Kdelr2 |
A |
C |
5: 143,403,899 (GRCm39) |
E96A |
probably benign |
Het |
| Lama2 |
G |
A |
10: 26,860,392 (GRCm39) |
R3032C |
probably damaging |
Het |
| Lipg |
T |
A |
18: 75,087,324 (GRCm39) |
I166F |
probably damaging |
Het |
| Lrrc8b |
T |
C |
5: 105,628,569 (GRCm39) |
V305A |
probably damaging |
Het |
| Marveld2 |
T |
C |
13: 100,748,695 (GRCm39) |
H128R |
probably benign |
Het |
| Mgat4a |
A |
G |
1: 37,505,636 (GRCm39) |
V189A |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,971,094 (GRCm39) |
E1033V |
probably damaging |
Het |
| Mtmr7 |
A |
G |
8: 41,059,873 (GRCm39) |
V80A |
probably benign |
Het |
| Ndrg2 |
A |
G |
14: 52,146,342 (GRCm39) |
S153P |
probably damaging |
Het |
| Nelfa |
C |
T |
5: 34,079,189 (GRCm39) |
|
probably null |
Het |
| Nes |
G |
T |
3: 87,886,131 (GRCm39) |
E1419D |
possibly damaging |
Het |
| Nipa1 |
C |
A |
7: 55,629,223 (GRCm39) |
V297L |
possibly damaging |
Het |
| Obox5 |
T |
A |
7: 15,492,807 (GRCm39) |
I254K |
probably benign |
Het |
| Or56b35 |
T |
C |
7: 104,963,778 (GRCm39) |
V189A |
possibly damaging |
Het |
| Or8k24 |
G |
A |
2: 86,216,184 (GRCm39) |
Q193* |
probably null |
Het |
| Pcdhga7 |
G |
A |
18: 37,848,388 (GRCm39) |
A132T |
probably benign |
Het |
| Pla1a |
T |
A |
16: 38,235,137 (GRCm39) |
I186F |
probably damaging |
Het |
| Rpl22l1 |
T |
C |
3: 28,861,047 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,330,800 (GRCm39) |
D1246G |
probably damaging |
Het |
| Senp7 |
A |
G |
16: 56,006,471 (GRCm39) |
S932G |
possibly damaging |
Het |
| Slc51a |
C |
A |
16: 32,297,565 (GRCm39) |
A111S |
probably benign |
Het |
| Srcin1 |
T |
A |
11: 97,427,885 (GRCm39) |
K236* |
probably null |
Het |
| Tbxas1 |
A |
G |
6: 39,004,839 (GRCm39) |
D362G |
possibly damaging |
Het |
| Tcl1b5 |
T |
C |
12: 105,146,275 (GRCm39) |
I116T |
possibly damaging |
Het |
| Tgm7 |
T |
A |
2: 120,929,522 (GRCm39) |
M251L |
probably damaging |
Het |
| Tnn |
T |
A |
1: 159,950,272 (GRCm39) |
Q778L |
possibly damaging |
Het |
| Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
| Zfp622 |
T |
C |
15: 25,984,855 (GRCm39) |
C74R |
probably damaging |
Het |
| Zfp646 |
C |
A |
7: 127,481,875 (GRCm39) |
H1351N |
possibly damaging |
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 |
|
R5126:Plscr4
|
UTSW |
9 |
92,370,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GTTCCTGCATTATATAGGATCACTG -3'
(R):5'- GTAAAATCAGTCACCCAGTGC -3'
Sequencing Primer
(F):5'- TATAGGATCACTGCACGAACTG -3'
(R):5'- CCAACCGTGGGCCTAGAAATG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation