Incidental Mutation 'R0898:Plscr4'
| ID |
83755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plscr4
|
| Ensembl Gene |
ENSMUSG00000032377 |
| Gene Name |
phospholipid scramblase 4 |
| Synonyms |
|
| MMRRC Submission |
039058-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R0898 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
92339431-92374509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 92366806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 140
(D140A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034941]
|
| AlphaFold |
P58196 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034941
AA Change: D140A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034941
Gene: ENSMUSG00000032377
AA Change: D140A
| 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 |
0.1354 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipor1 |
T |
A |
1: 134,351,814 (GRCm39) |
|
probably null |
Het |
| Apmap |
A |
G |
2: 150,427,669 (GRCm39) |
|
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,667,221 (GRCm39) |
N442S |
probably benign |
Het |
| Bpifb5 |
C |
T |
2: 154,075,254 (GRCm39) |
A394V |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,025,964 (GRCm39) |
T346A |
possibly damaging |
Het |
| Ccdc154 |
A |
G |
17: 25,383,055 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Col3a1 |
T |
C |
1: 45,373,153 (GRCm39) |
|
probably benign |
Het |
| Cpm |
A |
C |
10: 117,512,011 (GRCm39) |
|
probably benign |
Het |
| Crlf2 |
G |
C |
5: 109,705,004 (GRCm39) |
P67R |
probably damaging |
Het |
| Ddx59 |
T |
C |
1: 136,344,679 (GRCm39) |
Y117H |
probably damaging |
Het |
| Fam241b |
A |
G |
10: 61,944,773 (GRCm39) |
F98L |
probably damaging |
Het |
| Fmn2 |
G |
A |
1: 174,331,026 (GRCm39) |
G472E |
unknown |
Het |
| Gcdh |
T |
C |
8: 85,620,189 (GRCm39) |
H41R |
possibly damaging |
Het |
| Gm7713 |
A |
C |
15: 59,866,290 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb1 |
T |
C |
4: 131,962,093 (GRCm39) |
T189A |
probably benign |
Het |
| Iqck |
G |
A |
7: 118,570,664 (GRCm39) |
C272Y |
probably damaging |
Het |
| Kcnn2 |
T |
C |
18: 45,692,543 (GRCm39) |
C40R |
possibly damaging |
Het |
| Map3k1 |
T |
C |
13: 111,904,490 (GRCm39) |
|
probably benign |
Het |
| Nabp1 |
T |
C |
1: 51,510,496 (GRCm39) |
I169V |
probably benign |
Het |
| Or14j8 |
T |
C |
17: 38,263,127 (GRCm39) |
T263A |
probably benign |
Het |
| Or8c20 |
G |
A |
9: 38,260,738 (GRCm39) |
V120M |
probably damaging |
Het |
| Pfkm |
A |
G |
15: 98,026,111 (GRCm39) |
I569V |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,229,063 (GRCm39) |
T1096S |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,479,332 (GRCm39) |
D1331G |
probably damaging |
Het |
| Ppfia4 |
T |
C |
1: 134,248,864 (GRCm39) |
T498A |
probably benign |
Het |
| Prkar2b |
A |
T |
12: 32,013,001 (GRCm39) |
L372I |
possibly damaging |
Het |
| Rslcan18 |
T |
C |
13: 67,246,880 (GRCm39) |
N120S |
probably benign |
Het |
| Sbf2 |
C |
T |
7: 109,970,859 (GRCm39) |
V846I |
possibly damaging |
Het |
| Slc16a7 |
A |
G |
10: 125,069,370 (GRCm39) |
I102T |
possibly damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,254,349 (GRCm39) |
T506A |
probably damaging |
Het |
| Slc22a7 |
T |
C |
17: 46,744,075 (GRCm39) |
T462A |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,391,224 (GRCm39) |
Y395C |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 54,923,480 (GRCm39) |
T266A |
probably damaging |
Het |
| Tanc1 |
C |
T |
2: 59,621,132 (GRCm39) |
T317I |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,889,719 (GRCm39) |
S71P |
probably damaging |
Het |
| Tpgs2 |
G |
A |
18: 25,282,207 (GRCm39) |
P115S |
probably damaging |
Het |
| Trmt10a |
C |
T |
3: 137,855,279 (GRCm39) |
P139L |
probably damaging |
Het |
| Zfp113 |
T |
C |
5: 138,143,051 (GRCm39) |
S400G |
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 |
|
|
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 |
|
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'- CGTATTCACAAGTACCATGTCTCCAGTC -3'
(R):5'- TGTCTTGCACAGGGGCAGC -3'
Sequencing Primer
(F):5'- ctacaactactacttctcctcctc -3'
(R):5'- CAGAAGCAACAGCAGGTGC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation