Mutagenetix > Incidental Mutation

Incidental Mutation 'R4789:Plscr1l1'

367328

Institutional Source

Beutler Lab

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 #

R4789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92191430-92239929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92233084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 69 (C69Y)

Ref Sequence

ENSEMBL: ENSMUSP00000096077 (fasta)

Gene Model

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

AlphaFold

Q3V0U0

Predicted Effect

probably damaging
Transcript: ENSMUST00000098477
AA Change: C69Y

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096077
Gene: ENSMUSG00000074139
AA Change: C69Y

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

1x: 98.8%
3x: 98.4%
10x: 96.9%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	C	A	7: 115,692,757 (GRCm39)	D20E	probably benign	Het
Abcb9	T	A	5: 124,216,853 (GRCm39)	M455L	probably benign	Het
Add2	G	A	6: 86,095,752 (GRCm39)	V475M	probably benign	Het
Apoh	T	A	11: 108,300,064 (GRCm39)	Y238N	probably damaging	Het
Arpp21	A	G	9: 111,896,360 (GRCm39)	S681P	probably benign	Het
Atp1a3	A	C	7: 24,698,389 (GRCm39)	F149C	probably damaging	Het
B9d1	A	G	11: 61,397,186 (GRCm39)	D27G	probably benign	Het
Bfar	T	A	16: 13,503,001 (GRCm39)	M1K	probably null	Het
Bok	T	C	1: 93,616,963 (GRCm39)	V103A	probably damaging	Het
Brca1	A	C	11: 101,414,758 (GRCm39)	H1125Q	probably benign	Het
Card9	T	A	2: 26,247,632 (GRCm39)	M218L	probably damaging	Het
Cers1	T	C	8: 70,776,018 (GRCm39)	V303A	probably damaging	Het
Col6a5	T	C	9: 105,814,534 (GRCm39)	I493V	unknown	Het
Coro7	T	C	16: 4,446,085 (GRCm39)	Y880C	probably damaging	Het
Cyp2b19	T	C	7: 26,463,801 (GRCm39)	Y318H	probably benign	Het
Dennd3	T	A	15: 73,394,131 (GRCm39)	L52Q	probably damaging	Het
Dlat	A	T	9: 50,570,670 (GRCm39)	C33S	probably benign	Het
Dmxl2	T	A	9: 54,287,099 (GRCm39)	Q2646L	probably benign	Het
Dnah3	T	C	7: 119,610,295 (GRCm39)	N1703D	probably damaging	Het
Dock10	T	A	1: 80,518,998 (GRCm39)	H1241L	probably damaging	Het
Fbxl17	T	G	17: 63,794,910 (GRCm39)	I391L	probably benign	Het
Fdxacb1	A	G	9: 50,681,418 (GRCm39)	D113G	possibly damaging	Het
Flii	A	G	11: 60,605,919 (GRCm39)	S1185P	probably benign	Het
Gm14496	A	T	2: 181,637,577 (GRCm39)	Q217L	possibly damaging	Het
Heatr9	A	T	11: 83,410,018 (GRCm39)	D74E	probably benign	Het
Heca	C	A	10: 17,783,895 (GRCm39)	E91*	probably null	Het
Ikzf4	T	G	10: 128,468,575 (GRCm39)	T635P	probably benign	Het
Kif17	C	T	4: 138,008,688 (GRCm39)	P382S	probably damaging	Het
Kmt5b	T	C	19: 3,865,330 (GRCm39)	V775A	probably benign	Het
Mapk8ip2	T	A	15: 89,343,241 (GRCm39)	F661Y	probably damaging	Het
Mapkap1	A	G	2: 34,423,859 (GRCm39)	E111G	possibly damaging	Het
Med9	T	A	11: 59,839,266 (GRCm39)	N58K	probably benign	Het
Mid2	T	A	X: 139,578,981 (GRCm39)	Y61N	probably damaging	Het
Mief1	T	A	15: 80,132,080 (GRCm39)	Y50*	probably null	Het
Mios	T	C	6: 8,235,429 (GRCm39)	M859T	probably benign	Het
Muc5ac	G	T	7: 141,352,619 (GRCm39)	C702F	possibly damaging	Het
Nkiras1	T	C	14: 18,276,935 (GRCm38)		probably benign	Het
Or11i1	A	C	3: 106,729,608 (GRCm39)	I89R	possibly damaging	Het
Or11i1	T	A	3: 106,729,624 (GRCm39)	M84L	possibly damaging	Het
Or56a3b	T	G	7: 104,771,520 (GRCm39)	H285Q	probably null	Het
Or5ae2	T	A	7: 84,506,509 (GRCm39)	C311S	probably benign	Het
Pcsk5	C	T	19: 17,410,963 (GRCm39)	V1810M	probably benign	Het
Pex1	T	C	5: 3,680,270 (GRCm39)	V964A	probably damaging	Het
Pgm2l1	A	T	7: 99,916,794 (GRCm39)	M471L	probably benign	Het
Pkd1l2	T	C	8: 117,738,314 (GRCm39)	T2182A	probably damaging	Het
Polr1b	T	A	2: 128,951,257 (GRCm39)	I290K	probably benign	Het
Prkg1	T	A	19: 31,563,045 (GRCm39)	M119L	probably damaging	Het
Rbl1	A	G	2: 157,019,275 (GRCm39)	V490A	probably benign	Het
Shtn1	G	C	19: 59,039,305 (GRCm39)	R45G	probably damaging	Het
Slc10a6	T	A	5: 103,776,848 (GRCm39)	Y84F	probably benign	Het
Slc25a23	T	C	17: 57,366,597 (GRCm39)	D26G	probably damaging	Het
Slc41a2	T	C	10: 83,152,320 (GRCm39)	K52E	probably damaging	Het
Slc4a5	T	C	6: 83,247,951 (GRCm39)	F501L	probably benign	Het
Slfn5	T	A	11: 82,847,226 (GRCm39)	M37K	probably benign	Het
Sptbn1	A	C	11: 30,067,759 (GRCm39)	F1818L	probably benign	Het
Taf3	T	C	2: 9,956,770 (GRCm39)	T466A	probably damaging	Het
Thbs2	C	T	17: 14,891,750 (GRCm39)	G929D	probably damaging	Het
Tmc3	A	T	7: 83,271,746 (GRCm39)	D995V	probably damaging	Het
Tmem262	T	C	19: 6,130,452 (GRCm39)	F59L	possibly damaging	Het
Triobp	A	G	15: 78,875,228 (GRCm39)	D137G	probably damaging	Het
Tspear	T	C	10: 77,702,199 (GRCm39)	F211L	possibly damaging	Het
Ttn	A	T	2: 76,728,670 (GRCm39)		probably benign	Het
Ugt2b5	T	A	5: 87,287,550 (GRCm39)	M206L	probably benign	Het
Ush1g	A	T	11: 115,209,466 (GRCm39)	S243T	probably damaging	Het
Usp19	A	T	9: 108,370,433 (GRCm39)	T86S	possibly damaging	Het
Wdhd1	A	G	14: 47,506,149 (GRCm39)	V255A	probably benign	Het
Wdr11	G	A	7: 129,220,394 (GRCm39)	W594*	probably null	Het
Wnk3	T	A	X: 149,993,933 (GRCm39)	Y331*	probably null	Het
Zfp429	A	T	13: 67,538,523 (GRCm39)	I307K	probably benign	Het
Zkscan14	T	A	5: 145,132,444 (GRCm39)	K362N	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTTGTCCATGTCTCCCAGAG -3'
(R):5'- CCAAAACATGGCTCATGGATC -3'

Sequencing Primer
(F):5'- AGGATATCATCTAAACTTGGGGTATC -3'
(R):5'- ACATGGCTCATGGATCATTTTTG -3'

Posted On

2015-12-29