Mutagenetix > Incidental Mutation

Incidental Mutation 'R5602:Plscr1l1'

439087

Institutional Source

Beutler Lab

Gene Symbol

Plscr1l1

Ensembl Gene

ENSMUSG00000074139

Gene Name

phospholipid scramblase 1 like 1

Synonyms

1700057G04Rik

MMRRC Submission

043154-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R5602 (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 92234721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 152 (C152Y)

Ref Sequence

ENSEMBL: ENSMUSP00000096077 (fasta)

Gene Model

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

AlphaFold

Q3V0U0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098477
AA Change: C152Y

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096077
Gene: ENSMUSG00000074139
AA Change: C152Y

Domain	Start	End	E-Value	Type
Pfam:Scramblase	1	222	6.3e-88	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134712

Predicted Effect

unknown
Transcript: ENSMUST00000135182
AA Change: C65Y

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185580
AA Change: C76Y

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139734
Gene: ENSMUSG00000074139
AA Change: C76Y

Domain	Start	End	E-Value	Type
Pfam:Scramblase	1	146	8.4e-57	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	G	A	2: 151,315,459 (GRCm39)	S73F	possibly damaging	Het
4932414N04Rik	A	T	2: 68,578,712 (GRCm39)	*753L	probably null	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adam19	T	C	11: 46,027,142 (GRCm39)	S592P	probably benign	Het
Adamtsl3	A	G	7: 82,206,447 (GRCm39)	K843R	possibly damaging	Het
Ap2a2	A	T	7: 141,184,855 (GRCm39)	T213S	probably benign	Het
Asb5	A	G	8: 55,038,974 (GRCm39)	E280G	probably benign	Het
Becn1	T	C	11: 101,179,778 (GRCm39)	D403G	probably damaging	Het
Ccr7	G	T	11: 99,036,315 (GRCm39)	N202K	probably benign	Het
Cd36	T	C	5: 18,019,790 (GRCm39)	T104A	possibly damaging	Het
Cnot4	C	T	6: 35,028,464 (GRCm39)	W384*	probably null	Het
Col15a1	G	A	4: 47,312,087 (GRCm39)	V1301M	probably damaging	Het
Dock2	C	A	11: 34,204,391 (GRCm39)	A1384S	probably benign	Het
Ehbp1l1	T	C	19: 5,758,698 (GRCm39)	E1648G	possibly damaging	Het
Fbn1	G	T	2: 125,163,661 (GRCm39)	A2065E	possibly damaging	Het
Fras1	A	G	5: 96,884,880 (GRCm39)	Y2586C	probably damaging	Het
Galm	T	A	17: 80,457,568 (GRCm39)	Y28*	probably null	Het
Ggt7	A	G	2: 155,332,919 (GRCm39)	V648A	possibly damaging	Het
Gm17067	T	A	7: 42,357,839 (GRCm39)	D221V	probably damaging	Het
Gpr3	T	C	4: 132,937,805 (GRCm39)	N289S	probably damaging	Het
Ighv11-2	A	G	12: 114,012,277 (GRCm39)		probably benign	Het
Ighv11-2	G	A	12: 114,012,099 (GRCm39)	L39F	probably damaging	Het
Ipo9	G	A	1: 135,329,983 (GRCm39)	L486F	probably damaging	Het
Jak2	T	A	19: 29,275,739 (GRCm39)	N726K	probably benign	Het
Map4	T	C	9: 109,881,768 (GRCm39)	S211P	possibly damaging	Het
Mlh1	A	T	9: 111,081,946 (GRCm39)	L259Q	probably damaging	Het
Naa25	A	G	5: 121,558,558 (GRCm39)	E300G	probably benign	Het
Or8g34	A	T	9: 39,373,326 (GRCm39)	M200L	probably benign	Het
Or8g54	T	A	9: 39,707,490 (GRCm39)	V273E	possibly damaging	Het
Parva	G	A	7: 112,166,972 (GRCm39)	V182I	probably benign	Het
Pcdhgb4	T	C	18: 37,854,697 (GRCm39)	I364T	probably damaging	Het
Pdik1l	A	G	4: 134,011,580 (GRCm39)	S164P	probably damaging	Het
Pfas	A	T	11: 68,881,871 (GRCm39)	I938N	probably benign	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,728,987 (GRCm39)		probably null	Het
Prob1	C	T	18: 35,787,079 (GRCm39)	V392M	possibly damaging	Het
Rasgrf1	T	C	9: 89,793,624 (GRCm39)	S134P	possibly damaging	Het
Rorb	T	A	19: 18,955,301 (GRCm39)	Y20F	probably damaging	Het
Rsph9	G	T	17: 46,445,909 (GRCm39)	D220E	probably damaging	Het
Safb2	C	A	17: 56,882,630 (GRCm39)	K334N	possibly damaging	Het
Sall3	T	C	18: 81,016,027 (GRCm39)	T634A	probably benign	Het
Scaf1	A	G	7: 44,657,007 (GRCm39)		probably benign	Het
Slco1a5	T	A	6: 142,221,255 (GRCm39)		probably benign	Het
Spata21	C	T	4: 140,824,210 (GRCm39)	R158C	probably benign	Het
Srrm2	G	A	17: 24,038,311 (GRCm39)		probably benign	Het
Stk38l	C	A	6: 146,659,998 (GRCm39)	T10N	probably benign	Het
Supv3l1	G	A	10: 62,266,371 (GRCm39)	P602S	possibly damaging	Het
Timm44	C	T	8: 4,316,769 (GRCm39)		probably null	Het
Tll2	T	A	19: 41,093,420 (GRCm39)	R465S	possibly damaging	Het
Tmem104	G	A	11: 115,095,950 (GRCm39)	A164T	probably damaging	Het
Tmem151b	A	G	17: 45,856,526 (GRCm39)	S305P	probably damaging	Het
Utrn	T	C	10: 12,625,839 (GRCm39)	D114G	probably damaging	Het
Vmn2r109	A	T	17: 20,760,933 (GRCm39)	M808K	possibly damaging	Het
Washc2	T	A	6: 116,225,056 (GRCm39)	D801E	possibly damaging	Het
Xkr4	T	C	1: 3,286,751 (GRCm39)	I480V	probably benign	Het
Zfp507	G	T	7: 35,475,663 (GRCm39)	S58*	probably null	Het
Zfp768	T	A	7: 126,943,804 (GRCm39)	D108V	possibly 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
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
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'- GCTGTCATTCTAAGTAAATGAAGCCAC -3'
(R):5'- AGCACTGACCTTGTATTGGATC -3'

Sequencing Primer
(F):5'- GAAATACAAGCTCCTCCTG -3'
(R):5'- CCACCTAATACAGCTTTACCT -3'

Posted On

2016-10-26