Incidental Mutation 'IGL00232:Plscr1l1'
ID |
45404 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Plscr1l1
|
Ensembl Gene |
ENSMUSG00000074139 |
Gene Name |
phospholipid scramblase 1 like 1 |
Synonyms |
1700057G04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
IGL00232
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
92191430-92239929 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 92233005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 43
(R43*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096077
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098477]
[ENSMUST00000185580]
|
AlphaFold |
Q3V0U0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000098477
AA Change: R43*
|
SMART Domains |
Protein: ENSMUSP00000096077 Gene: ENSMUSG00000074139 AA Change: R43*
Domain | Start | End | E-Value | Type |
Pfam:Scramblase
|
1 |
222 |
6.3e-88 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134712
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135182
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185580
|
SMART Domains |
Protein: ENSMUSP00000139734 Gene: ENSMUSG00000074139
Domain | Start | End | E-Value | Type |
Pfam:Scramblase
|
1 |
146 |
8.4e-57 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
C |
A |
15: 81,950,581 (GRCm39) |
Q1493K |
probably benign |
Het |
Anapc1 |
A |
T |
2: 128,487,050 (GRCm39) |
|
probably benign |
Het |
Armc8 |
T |
C |
9: 99,387,787 (GRCm39) |
|
probably null |
Het |
Asz1 |
T |
G |
6: 18,055,541 (GRCm39) |
|
probably null |
Het |
Atp6v0a4 |
G |
A |
6: 38,069,725 (GRCm39) |
R56* |
probably null |
Het |
Bend6 |
T |
C |
1: 33,922,619 (GRCm39) |
D8G |
possibly damaging |
Het |
Ccdc171 |
T |
A |
4: 83,600,561 (GRCm39) |
C870* |
probably null |
Het |
Cd163 |
A |
G |
6: 124,306,060 (GRCm39) |
|
probably benign |
Het |
Chd2 |
A |
G |
7: 73,118,325 (GRCm39) |
S1098P |
probably damaging |
Het |
Col6a5 |
T |
G |
9: 105,759,882 (GRCm39) |
D1946A |
probably damaging |
Het |
Gm6576 |
T |
A |
15: 27,025,884 (GRCm39) |
|
noncoding transcript |
Het |
Gypa |
T |
G |
8: 81,231,408 (GRCm39) |
|
probably benign |
Het |
Ighv9-3 |
T |
C |
12: 114,104,691 (GRCm39) |
|
probably benign |
Het |
Itgb1 |
T |
G |
8: 129,440,399 (GRCm39) |
|
probably benign |
Het |
Kctd15 |
A |
T |
7: 34,350,170 (GRCm39) |
|
probably null |
Het |
Krtap13 |
A |
C |
16: 88,548,423 (GRCm39) |
S22A |
possibly damaging |
Het |
Masp1 |
C |
T |
16: 23,276,841 (GRCm39) |
E555K |
possibly damaging |
Het |
Med13l |
T |
A |
5: 118,862,136 (GRCm39) |
S360T |
probably damaging |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mfsd13a |
A |
G |
19: 46,354,958 (GRCm39) |
Y45C |
probably damaging |
Het |
Neb |
T |
C |
2: 52,125,568 (GRCm39) |
D3662G |
possibly damaging |
Het |
Nkx6-1 |
T |
C |
5: 101,807,371 (GRCm39) |
D337G |
possibly damaging |
Het |
Nlrc5 |
T |
C |
8: 95,211,251 (GRCm39) |
|
probably null |
Het |
Palb2 |
T |
C |
7: 121,720,287 (GRCm39) |
H468R |
probably damaging |
Het |
Rai1 |
T |
G |
11: 60,076,217 (GRCm39) |
Y94D |
probably damaging |
Het |
Slc27a3 |
A |
T |
3: 90,292,748 (GRCm39) |
Y605* |
probably null |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Trpm7 |
T |
C |
2: 126,670,951 (GRCm39) |
E677G |
possibly damaging |
Het |
Tstd2 |
A |
T |
4: 46,120,002 (GRCm39) |
|
probably benign |
Het |
Unc5c |
T |
C |
3: 141,494,701 (GRCm39) |
I412T |
probably damaging |
Het |
|
Other mutations in Plscr1l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01627:Plscr1l1
|
APN |
9 |
92,229,864 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02118:Plscr1l1
|
APN |
9 |
92,233,011 (GRCm39) |
nonsense |
probably null |
|
R0815:Plscr1l1
|
UTSW |
9 |
92,233,140 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0863:Plscr1l1
|
UTSW |
9 |
92,233,140 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1400:Plscr1l1
|
UTSW |
9 |
92,233,180 (GRCm39) |
missense |
probably benign |
0.00 |
R3689:Plscr1l1
|
UTSW |
9 |
92,234,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R4280:Plscr1l1
|
UTSW |
9 |
92,225,701 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4789:Plscr1l1
|
UTSW |
9 |
92,233,084 (GRCm39) |
missense |
probably damaging |
0.98 |
R4810:Plscr1l1
|
UTSW |
9 |
92,236,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R4880:Plscr1l1
|
UTSW |
9 |
92,236,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R4987:Plscr1l1
|
UTSW |
9 |
92,236,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R5427:Plscr1l1
|
UTSW |
9 |
92,234,649 (GRCm39) |
missense |
probably benign |
0.43 |
R5602:Plscr1l1
|
UTSW |
9 |
92,234,721 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5702:Plscr1l1
|
UTSW |
9 |
92,225,741 (GRCm39) |
splice site |
probably null |
|
R6992:Plscr1l1
|
UTSW |
9 |
92,236,725 (GRCm39) |
missense |
probably benign |
0.06 |
R7243:Plscr1l1
|
UTSW |
9 |
92,225,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R8207:Plscr1l1
|
UTSW |
9 |
92,233,061 (GRCm39) |
missense |
probably benign |
0.01 |
RF006:Plscr1l1
|
UTSW |
9 |
92,234,702 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Posted On |
2013-06-11 |