Incidental Mutation 'R7741:Plscr4'
ID |
596553 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plscr4
|
Ensembl Gene |
ENSMUSG00000032377 |
Gene Name |
phospholipid scramblase 4 |
Synonyms |
|
MMRRC Submission |
045797-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R7741 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
92339431-92374509 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 92364693 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034941
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034941]
|
AlphaFold |
P58196 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034941
|
SMART Domains |
Protein: ENSMUSP00000034941 Gene: ENSMUSG00000032377
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
51 |
N/A |
INTRINSIC |
Pfam:Scramblase
|
96 |
318 |
7.5e-87 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
C |
T |
10: 76,290,551 (GRCm39) |
P118S |
probably damaging |
Het |
Adgrl1 |
T |
A |
8: 84,656,343 (GRCm39) |
D215E |
probably damaging |
Het |
Afap1l2 |
T |
C |
19: 56,902,914 (GRCm39) |
D755G |
probably damaging |
Het |
Akr1c18 |
T |
A |
13: 4,194,332 (GRCm39) |
D109V |
possibly damaging |
Het |
Brdt |
G |
A |
5: 107,506,752 (GRCm39) |
R445H |
probably benign |
Het |
Capn2 |
C |
A |
1: 182,307,288 (GRCm39) |
E517* |
probably null |
Het |
Celsr1 |
A |
T |
15: 85,863,303 (GRCm39) |
V1243E |
possibly damaging |
Het |
Cenpe |
C |
G |
3: 134,953,096 (GRCm39) |
|
probably null |
Het |
Cep135 |
A |
G |
5: 76,778,817 (GRCm39) |
E748G |
probably damaging |
Het |
Cfap119 |
C |
A |
7: 127,187,159 (GRCm39) |
V35L |
probably benign |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Col6a1 |
C |
A |
10: 76,545,743 (GRCm39) |
A910S |
unknown |
Het |
Cyp4a14 |
T |
A |
4: 115,347,156 (GRCm39) |
|
probably null |
Het |
Dot1l |
C |
T |
10: 80,619,378 (GRCm39) |
R412W |
probably damaging |
Het |
Dyrk2 |
T |
C |
10: 118,695,594 (GRCm39) |
T555A |
probably benign |
Het |
Foxn3 |
T |
C |
12: 99,162,587 (GRCm39) |
N438S |
probably damaging |
Het |
Gdpd5 |
T |
C |
7: 99,103,001 (GRCm39) |
F320S |
probably damaging |
Het |
Grn |
A |
G |
11: 102,326,560 (GRCm39) |
H413R |
probably damaging |
Het |
Gstm7 |
A |
T |
3: 107,838,963 (GRCm39) |
M3K |
possibly damaging |
Het |
Il17rd |
A |
G |
14: 26,822,293 (GRCm39) |
E673G |
probably damaging |
Het |
Klhl29 |
T |
C |
12: 5,187,500 (GRCm39) |
D288G |
possibly damaging |
Het |
Klk1b11 |
G |
A |
7: 43,426,421 (GRCm39) |
A79T |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,719,359 (GRCm39) |
V3914A |
unknown |
Het |
Map2k2 |
T |
C |
10: 80,956,877 (GRCm39) |
V307A |
probably benign |
Het |
Mst1r |
G |
T |
9: 107,784,319 (GRCm39) |
|
probably benign |
Het |
Nr3c2 |
A |
G |
8: 77,937,275 (GRCm39) |
E834G |
probably damaging |
Het |
Oga |
A |
T |
19: 45,764,501 (GRCm39) |
L213H |
probably damaging |
Het |
Ogfod3 |
T |
G |
11: 121,074,362 (GRCm39) |
|
probably null |
Het |
Or5b102 |
A |
T |
19: 13,041,423 (GRCm39) |
Y216F |
probably damaging |
Het |
Or8d2 |
T |
C |
9: 38,759,614 (GRCm39) |
L68P |
probably damaging |
Het |
Pou2f1 |
A |
G |
1: 165,703,444 (GRCm39) |
S749P |
probably damaging |
Het |
Ppp4r3b |
T |
G |
11: 29,155,701 (GRCm39) |
L556V |
possibly damaging |
Het |
Psd4 |
T |
G |
2: 24,291,108 (GRCm39) |
|
probably null |
Het |
Rbbp4 |
T |
C |
4: 129,228,356 (GRCm39) |
D33G |
probably damaging |
Het |
Rif1 |
T |
A |
2: 51,975,153 (GRCm39) |
M354K |
probably damaging |
Het |
Rmi1 |
A |
G |
13: 58,557,067 (GRCm39) |
K439E |
probably benign |
Het |
Scgb2b7 |
A |
G |
7: 31,404,454 (GRCm39) |
|
probably null |
Het |
Sdc1 |
A |
G |
12: 8,841,370 (GRCm39) |
D237G |
probably benign |
Het |
Sel1l3 |
T |
C |
5: 53,357,593 (GRCm39) |
Y133C |
probably damaging |
Het |
Snx31 |
A |
G |
15: 36,523,587 (GRCm39) |
|
probably null |
Het |
Snx7 |
A |
G |
3: 117,632,488 (GRCm39) |
F201S |
probably damaging |
Het |
Tas2r131 |
C |
T |
6: 132,934,438 (GRCm39) |
V124I |
possibly damaging |
Het |
Tbx20 |
A |
T |
9: 24,651,581 (GRCm39) |
|
probably null |
Het |
Topbp1 |
A |
T |
9: 103,197,756 (GRCm39) |
N445I |
probably damaging |
Het |
Tpx2 |
T |
A |
2: 152,709,263 (GRCm39) |
I31K |
possibly damaging |
Het |
Trpv3 |
T |
A |
11: 73,179,088 (GRCm39) |
V499E |
probably damaging |
Het |
Tshr |
G |
A |
12: 91,500,743 (GRCm39) |
W258* |
probably null |
Het |
Usp32 |
G |
T |
11: 84,878,107 (GRCm39) |
D1543E |
probably damaging |
Het |
Usp39 |
A |
G |
6: 72,315,521 (GRCm39) |
|
probably benign |
Het |
Vac14 |
T |
C |
8: 111,361,020 (GRCm39) |
S197P |
probably damaging |
Het |
Vars2 |
A |
G |
17: 35,971,835 (GRCm39) |
S497P |
probably damaging |
Het |
Zfp462 |
C |
A |
4: 55,008,637 (GRCm39) |
P201Q |
probably benign |
Het |
Zkscan5 |
A |
G |
5: 145,157,847 (GRCm39) |
Q783R |
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 |
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 |
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'- TTCTATATCTGTGAAATGGGCACTC -3'
(R):5'- GCCCTGCCATCCACATTATG -3'
Sequencing Primer
(F):5'- CTGTGAAATGGGCACTCTGACATC -3'
(R):5'- CACATTATGGGAGCAGGCTGATTC -3'
|
Posted On |
2019-11-26 |