Mutagenetix > Incidental Mutation

Incidental Mutation 'R6775:Plscr4'

532335

Institutional Source

Beutler Lab

Gene Symbol

Plscr4

Ensembl Gene

ENSMUSG00000032377

Gene Name

phospholipid scramblase 4

Synonyms

MMRRC Submission

044891-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R6775 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92339431-92374509 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92364858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 94 (M94I)

Ref Sequence

ENSEMBL: ENSMUSP00000034941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034941]

AlphaFold

P58196

Predicted Effect

probably benign
Transcript: ENSMUST00000034941
AA Change: M94I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034941
Gene: ENSMUSG00000032377
AA Change: M94I

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	G	A	13: 104,450,160 (GRCm39)	V289M	probably damaging	Het
Atp10b	A	G	11: 43,113,040 (GRCm39)	D862G	possibly damaging	Het
Ccn6	T	C	10: 39,027,351 (GRCm39)	T294A	probably damaging	Het
Colec10	A	G	15: 54,298,419 (GRCm39)	E60G	possibly damaging	Het
Cpne1	A	G	2: 155,920,340 (GRCm39)	V179A	probably damaging	Het
Galnt9	G	A	5: 110,768,465 (GRCm39)	R587H	probably damaging	Het
Gmip	A	G	8: 70,268,285 (GRCm39)	D423G	possibly damaging	Het
Ints15	C	A	5: 143,297,493 (GRCm39)	V185L	probably benign	Het
Klk1b24	A	G	7: 43,840,889 (GRCm39)	M106V	probably benign	Het
Or14c39	A	G	7: 86,344,357 (GRCm39)	E231G	probably benign	Het
Or7g30	A	T	9: 19,352,718 (GRCm39)	T170S	possibly damaging	Het
Or8k40	G	A	2: 86,584,921 (GRCm39)	R54C	probably damaging	Het
Orc1	T	A	4: 108,460,652 (GRCm39)	F496I	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phf11b	A	T	14: 59,576,094 (GRCm39)	N47K	probably benign	Het
Ppip5k2	A	T	1: 97,647,585 (GRCm39)	V1047E	possibly damaging	Het
Scn3a	A	G	2: 65,352,159 (GRCm39)	Y384H	possibly damaging	Het
Sgpp1	G	C	12: 75,782,243 (GRCm39)	P32R	probably benign	Het
Smc1b	T	C	15: 84,973,881 (GRCm39)	E925G	probably damaging	Het
Sorl1	A	G	9: 42,003,748 (GRCm39)	Y183H	possibly damaging	Het
Tarbp1	A	C	8: 127,163,568 (GRCm39)	D1151E	probably benign	Het
Vmn2r3	T	C	3: 64,183,039 (GRCm39)	H220R	possibly damaging	Het
Wdr5	A	G	2: 27,423,386 (GRCm39)	Y260C	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
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
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'- TTTCATCTGCTTGAGAACACAGGC -3'
(R):5'- ATGCACTGTCTACCTGCAAATC -3'

Sequencing Primer
(F):5'- TTGAGAACACAGGCCCTGCTG -3'
(R):5'- TGTCTACCTGCAAATCCACCATCG -3'

Posted On

2018-08-29