Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02118:Plscr1l1'

280475

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: 0.070) question?

Stock #

IGL02118

Quality Score

Status

Chromosome

Chromosomal Location

92191430-92239929 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 92233011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 45 (K45*)

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: K45*

SMART Domains

Protein: ENSMUSP00000096077
Gene: ENSMUSG00000074139
AA Change: K45*

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	C	5: 35,758,865 (GRCm39)	Y359H	possibly damaging	Het
Actn2	A	G	13: 12,291,433 (GRCm39)		probably benign	Het
Actr8	T	C	14: 29,704,728 (GRCm39)		probably null	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Aldob	T	A	4: 49,538,790 (GRCm39)	K243*	probably null	Het
Arfgap1	T	C	2: 180,622,237 (GRCm39)	F274S	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cask	T	C	X: 13,425,634 (GRCm39)	I471V	probably damaging	Het
Cdc42ep4	C	T	11: 113,619,942 (GRCm39)	G150S	probably benign	Het
Cpne1	T	G	2: 155,919,563 (GRCm39)	D278A	possibly damaging	Het
Gcn1	A	G	5: 115,748,938 (GRCm39)	E1856G	probably damaging	Het
Gm8362	A	T	14: 18,149,595 (GRCm39)	V159E	probably damaging	Het
Golga5	A	G	12: 102,462,011 (GRCm39)	I700V	possibly damaging	Het
Ifi206	T	C	1: 173,309,334 (GRCm39)	T221A	probably benign	Het
Ighv2-6-8	T	C	12: 113,760,037 (GRCm39)	K24R	possibly damaging	Het
Morc1	T	C	16: 48,407,467 (GRCm39)	L661P	probably benign	Het
Per2	G	A	1: 91,352,031 (GRCm39)	T825I	probably damaging	Het
Pramel20	A	T	4: 143,297,726 (GRCm39)	T49S	probably benign	Het
Prkar2b	A	G	12: 32,025,963 (GRCm39)	V19A	probably damaging	Het
Psmb8	T	A	17: 34,420,198 (GRCm39)	D263E	probably damaging	Het
Pum2	T	C	12: 8,779,117 (GRCm39)	I563T	probably benign	Het
Retreg1	T	G	15: 25,966,709 (GRCm39)		probably null	Het
Rfx7	A	G	9: 72,524,486 (GRCm39)	T559A	probably benign	Het
Rnf31	T	G	14: 55,836,569 (GRCm39)	I801S	probably damaging	Het
Rom1	G	T	19: 8,906,386 (GRCm39)	T51N	possibly damaging	Het
Sema6b	G	T	17: 56,439,821 (GRCm39)	P7T	probably benign	Het
Stpg1	A	G	4: 135,235,375 (GRCm39)		probably benign	Het
Sugct	A	T	13: 17,627,105 (GRCm39)	Y249*	probably null	Het
Tbc1d21	C	T	9: 58,267,746 (GRCm39)	V317M	probably benign	Het
Tcea2	A	G	2: 181,327,628 (GRCm39)	I125V	probably benign	Het
Ttc39b	T	A	4: 83,216,186 (GRCm39)	D19V	probably damaging	Het
Tti2	T	A	8: 31,645,537 (GRCm39)		probably null	Het
Usp32	A	T	11: 84,923,003 (GRCm39)	Y142*	probably null	Het
Vill	A	G	9: 118,889,466 (GRCm39)	Y134C	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Zfp398	A	G	6: 47,835,879 (GRCm39)	D14G	probably damaging	Het
Zfp598	T	C	17: 24,896,591 (GRCm39)	Y223H	probably damaging	Het
Znhit6	G	T	3: 145,283,859 (GRCm39)	C43F	probably damaging	Het

Other mutations in Plscr1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Plscr1l1	APN	9	92,233,005 (GRCm39)	nonsense	probably null
IGL01627:Plscr1l1	APN	9	92,229,864 (GRCm39)	missense	probably damaging	0.99
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

2015-04-16