Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01627:Plscr1l1'

92799

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) question?

Stock #

IGL01627

Quality Score

Status

Chromosome

Chromosomal Location

92191430-92239929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92229864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 23 (I23F)

Ref Sequence

ENSEMBL: ENSMUSP00000096077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098477] [ENSMUST00000150594] [ENSMUST00000185580]

AlphaFold

Q3V0U0

Predicted Effect

probably damaging
Transcript: ENSMUST00000098477
AA Change: I23F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096077
Gene: ENSMUSG00000074139
AA Change: I23F

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: ENSMUST00000150594

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	G	A	8: 27,608,761 (GRCm39)	A540T	possibly damaging	Het
Casp9	T	C	4: 141,532,853 (GRCm39)		probably benign	Het
Ccdc186	G	A	19: 56,780,452 (GRCm39)	T864I	probably damaging	Het
Cgas	A	T	9: 78,349,996 (GRCm39)	V57E	possibly damaging	Het
Chek1	T	A	9: 36,635,191 (GRCm39)	H64L	probably damaging	Het
Chsy3	T	C	18: 59,309,367 (GRCm39)	S207P	probably damaging	Het
Clec4n	A	G	6: 123,221,433 (GRCm39)		probably benign	Het
Col9a1	G	A	1: 24,218,689 (GRCm39)		probably null	Het
Dgkd	A	G	1: 87,808,150 (GRCm39)	R73G	probably damaging	Het
Dmbt1	A	T	7: 130,682,915 (GRCm39)	T562S	probably benign	Het
Epb42	T	C	2: 120,856,324 (GRCm39)	T407A	probably benign	Het
Eps8l3	A	G	3: 107,788,487 (GRCm39)	D58G	probably damaging	Het
Fuca1	A	T	4: 135,652,862 (GRCm39)	N162I	possibly damaging	Het
Gramd1a	T	C	7: 30,839,221 (GRCm39)	D229G	probably damaging	Het
Grin1	A	G	2: 25,208,709 (GRCm39)	S64P	probably damaging	Het
Hgd	T	G	16: 37,442,287 (GRCm39)	V243G	probably damaging	Het
Il23r	A	T	6: 67,400,412 (GRCm39)	N639K	probably benign	Het
Il33	A	G	19: 29,929,390 (GRCm39)	T38A	possibly damaging	Het
Mycbpap	T	C	11: 94,405,430 (GRCm39)	E33G	probably damaging	Het
Npas1	C	T	7: 16,199,111 (GRCm39)	G148D	probably damaging	Het
Ntan1	C	T	16: 13,652,603 (GRCm39)	T233M	probably benign	Het
Or6c5	A	T	10: 129,074,138 (GRCm39)	N40I	probably damaging	Het
Pou2f1	A	T	1: 165,708,002 (GRCm39)		probably benign	Het
Rims4	T	C	2: 163,706,022 (GRCm39)	Y204C	probably damaging	Het
Selp	A	G	1: 163,971,461 (GRCm39)		probably null	Het
Senp7	A	G	16: 55,992,219 (GRCm39)	E725G	probably damaging	Het
Snx31	A	T	15: 36,517,818 (GRCm39)	F366Y	probably damaging	Het
Spats2l	A	G	1: 57,941,241 (GRCm39)		probably benign	Het
Tssk4	T	C	14: 55,888,010 (GRCm39)	F69L	probably damaging	Het
Ugt3a1	T	C	15: 9,335,806 (GRCm39)	L9P	probably damaging	Het
Vmn2r76	A	T	7: 85,874,871 (GRCm39)	I702N	probably damaging	Het
Vps18	C	A	2: 119,127,672 (GRCm39)	R832S	probably benign	Het
Xpo6	A	G	7: 125,748,506 (GRCm39)	L375P	probably damaging	Het
Zfp462	C	A	4: 55,008,912 (GRCm39)	P293T	possibly damaging	Het
Zyg11b	T	C	4: 108,107,985 (GRCm39)	I474V	probably benign	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
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

2013-12-09