Incidental Mutation 'R4958:Plscr4'
ID |
381712 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plscr4
|
Ensembl Gene |
ENSMUSG00000032377 |
Gene Name |
phospholipid scramblase 4 |
Synonyms |
|
MMRRC Submission |
042555-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R4958 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
92339431-92374509 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92366814 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 143
(N143D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034941
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034941]
|
AlphaFold |
P58196 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034941
AA Change: N143D
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000034941 Gene: ENSMUSG00000032377 AA Change: N143D
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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd7 |
A |
G |
6: 18,866,722 (GRCm39) |
S81G |
probably benign |
Het |
Arel1 |
T |
C |
12: 84,973,078 (GRCm39) |
K573R |
possibly damaging |
Het |
Atf7ip |
C |
T |
6: 136,583,808 (GRCm39) |
R1280C |
probably damaging |
Het |
Atp1a4 |
T |
A |
1: 172,058,718 (GRCm39) |
D909V |
probably damaging |
Het |
Cdh2 |
T |
G |
18: 16,760,622 (GRCm39) |
|
probably null |
Het |
Col6a1 |
A |
T |
10: 76,559,339 (GRCm39) |
I99N |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,699,916 (GRCm39) |
T256A |
probably damaging |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Ereg |
T |
C |
5: 91,237,970 (GRCm39) |
V152A |
probably damaging |
Het |
Gm4950 |
T |
C |
18: 51,998,641 (GRCm39) |
T105A |
probably benign |
Het |
Hsf2 |
T |
C |
10: 57,377,467 (GRCm39) |
I121T |
probably damaging |
Het |
Kmt2a |
A |
T |
9: 44,759,764 (GRCm39) |
L728Q |
probably damaging |
Het |
Llgl1 |
G |
T |
11: 60,602,261 (GRCm39) |
R768L |
probably benign |
Het |
Lyst |
A |
G |
13: 13,810,048 (GRCm39) |
I573V |
probably benign |
Het |
Macf1 |
G |
T |
4: 123,369,157 (GRCm39) |
T303K |
probably damaging |
Het |
Map3k5 |
A |
T |
10: 19,899,535 (GRCm39) |
Q264L |
possibly damaging |
Het |
Mboat1 |
T |
C |
13: 30,408,376 (GRCm39) |
S180P |
probably damaging |
Het |
Mfsd6 |
T |
C |
1: 52,700,183 (GRCm39) |
D655G |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,083,785 (GRCm39) |
E1521G |
possibly damaging |
Het |
Nsd2 |
T |
A |
5: 34,049,366 (GRCm39) |
S1200R |
probably damaging |
Het |
Or51k2 |
T |
C |
7: 103,595,808 (GRCm39) |
F12L |
probably damaging |
Het |
Or52n2b |
T |
C |
7: 104,565,668 (GRCm39) |
I278M |
probably damaging |
Het |
Or6z3 |
G |
A |
7: 6,464,057 (GRCm39) |
C183Y |
probably damaging |
Het |
Or8h9 |
T |
C |
2: 86,789,449 (GRCm39) |
M118V |
possibly damaging |
Het |
Pbrm1 |
T |
C |
14: 30,796,784 (GRCm39) |
I875T |
probably damaging |
Het |
Pla2g1b |
T |
A |
5: 115,608,885 (GRCm39) |
F26I |
probably damaging |
Het |
Rab11fip1 |
G |
T |
8: 27,644,841 (GRCm39) |
R315S |
probably damaging |
Het |
Rptor |
G |
A |
11: 119,748,217 (GRCm39) |
R727Q |
probably benign |
Het |
Serac1 |
A |
T |
17: 6,119,657 (GRCm39) |
V91D |
probably benign |
Het |
Slco1a6 |
C |
A |
6: 142,091,431 (GRCm39) |
G90C |
probably damaging |
Het |
Sulf1 |
A |
G |
1: 12,867,134 (GRCm39) |
Y106C |
probably benign |
Het |
Syt13 |
G |
A |
2: 92,783,794 (GRCm39) |
V355M |
probably damaging |
Het |
Tjp1 |
G |
A |
7: 64,985,850 (GRCm39) |
R314* |
probably null |
Het |
Tshr |
A |
G |
12: 91,504,961 (GRCm39) |
D633G |
probably damaging |
Het |
Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
Znrf4 |
A |
G |
17: 56,818,701 (GRCm39) |
F202S |
probably damaging |
Het |
Zswim8 |
T |
A |
14: 20,763,533 (GRCm39) |
W427R |
probably 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 |
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'- GCTCACATGGTTGTATTTCACC -3'
(R):5'- GACCTCTTGTCTTGCACAGG -3'
Sequencing Primer
(F):5'- GGCTTTCAGCTCCAATCATAC -3'
(R):5'- CTTGTCTTGCACAGGGGCAG -3'
|
Posted On |
2016-04-27 |