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 |
Incidental Mutation