Mutagenetix > Incidental Mutation

Incidental Mutation 'R8346:Plscr4'

645239

Institutional Source

Beutler Lab

Gene Symbol

Plscr4

Ensembl Gene

ENSMUSG00000032377

Gene Name

phospholipid scramblase 4

Synonyms

MMRRC Submission

067802-MU

Accession Numbers

Essential gene?

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

Stock #

R8346 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92339431-92374509 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 92372843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 322 (R322*)

Ref Sequence

ENSEMBL: ENSMUSP00000034941 (fasta)

Gene Model

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

AlphaFold

P58196

Predicted Effect

probably null
Transcript: ENSMUST00000034941
AA Change: R322*

SMART Domains

Protein: ENSMUSP00000034941
Gene: ENSMUSG00000032377
AA Change: R322*

Domain	Start	End	E-Value	Type
low complexity region	38	51	N/A	INTRINSIC
Pfam:Scramblase	96	318	7.5e-87	PFAM

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	A	G	14: 59,380,221 (GRCm39)	S26P	probably damaging	Het
Aco1	T	A	4: 40,177,876 (GRCm39)	M299K	probably damaging	Het
Acox1	G	T	11: 116,069,099 (GRCm39)	T382N	possibly damaging	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
App	G	T	16: 84,900,145 (GRCm39)	R102S	unknown	Het
Chd1l	T	C	3: 97,469,959 (GRCm39)	N856D	probably benign	Het
Col11a1	A	G	3: 114,005,818 (GRCm39)	D1650G	unknown	Het
Cx3cl1	T	C	8: 95,507,168 (GRCm39)	V391A	probably damaging	Het
Cyp11b2	T	C	15: 74,723,617 (GRCm39)	Y378C	probably damaging	Het
Cyp26b1	T	C	6: 84,554,150 (GRCm39)	S156G	probably benign	Het
Cyp3a11	C	T	5: 145,795,612 (GRCm39)	M446I	probably damaging	Het
D7Ertd443e	G	A	7: 133,950,485 (GRCm39)	T396I	possibly damaging	Het
Dusp4	C	A	8: 35,275,092 (GRCm39)	N70K	possibly damaging	Het
Dync1h1	G	A	12: 110,632,226 (GRCm39)	A4499T	probably benign	Het
Eno2	T	C	6: 124,740,758 (GRCm39)	D266G	possibly damaging	Het
Eomes	T	C	9: 118,314,036 (GRCm39)	S694P	probably benign	Het
Fmo4	A	G	1: 162,621,792 (GRCm39)	V473A	probably benign	Het
Fmo5	T	A	3: 97,552,962 (GRCm39)	N303K	probably damaging	Het
Garin1b	G	A	6: 29,334,030 (GRCm39)	C296Y	probably damaging	Het
Gdf10	A	G	14: 33,653,802 (GRCm39)	E103G	probably benign	Het
Gjb6	T	C	14: 57,362,259 (GRCm39)	M1V	probably null	Het
Gm17067	A	G	7: 42,358,073 (GRCm39)	L143P	probably damaging	Het
Helz	A	G	11: 107,563,399 (GRCm39)	D1613G	unknown	Het
Hmgn3	T	C	9: 82,993,159 (GRCm39)	K50E	probably damaging	Het
Hoxc11	G	A	15: 102,863,186 (GRCm39)	G76S	possibly damaging	Het
Ighv1-9	A	T	12: 114,547,448 (GRCm39)	M31K	probably benign	Het
Ighv2-2	A	T	12: 113,552,189 (GRCm39)	C16*	probably null	Het
Kidins220	T	G	12: 25,086,533 (GRCm39)	F989C	probably damaging	Het
Krtap28-13	A	G	1: 83,039,086 (GRCm39)	K124E	unknown	Het
Mast4	A	G	13: 102,887,986 (GRCm39)	V1141A	probably damaging	Het
Myb	A	T	10: 21,002,136 (GRCm39)	M735K	probably benign	Het
Myo3a	T	A	2: 22,448,434 (GRCm39)		probably null	Het
Naa60	G	A	16: 3,718,507 (GRCm39)	G113D	probably damaging	Het
Nfatc1	T	C	18: 80,725,382 (GRCm39)	I461V	probably benign	Het
Nphp4	C	A	4: 152,645,778 (GRCm39)	A1262D	probably damaging	Het
Obscn	A	T	11: 58,976,007 (GRCm39)	V2040E	possibly damaging	Het
Or1j4	A	G	2: 36,740,351 (GRCm39)	I98V	probably benign	Het
Or9a2	A	G	6: 41,749,057 (GRCm39)	Y59H	probably damaging	Het
Ormdl1	T	A	1: 53,344,626 (GRCm39)	F63I	possibly damaging	Het
Otulinl	A	G	15: 27,664,644 (GRCm39)	Y76H	probably damaging	Het
Phc1	C	T	6: 122,302,774 (GRCm39)	V250M	probably damaging	Het
Pik3c2b	G	A	1: 133,017,984 (GRCm39)	V949M	probably damaging	Het
Prmt8	T	A	6: 127,688,810 (GRCm39)	M187L	probably damaging	Het
Ptpn3	T	C	4: 57,225,547 (GRCm39)	I513V	probably damaging	Het
Rad17	A	C	13: 100,781,681 (GRCm39)	S39A	possibly damaging	Het
Rbck1	T	C	2: 152,160,700 (GRCm39)	Y412C	probably damaging	Het
Rfc3	C	A	5: 151,569,100 (GRCm39)	M152I	probably damaging	Het
Scn11a	C	A	9: 119,608,047 (GRCm39)	C1028F	probably damaging	Het
Sfmbt2	C	A	2: 10,466,236 (GRCm39)	P357Q	probably damaging	Het
Slc22a6	C	G	19: 8,599,169 (GRCm39)	R267G	probably damaging	Het
St3gal1	G	A	15: 66,985,511 (GRCm39)	R48C	probably damaging	Het
Stmnd1	A	G	13: 46,452,936 (GRCm39)	N204S	probably benign	Het
Tdrd1	T	C	19: 56,830,699 (GRCm39)	V244A	probably benign	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Vmn2r25	T	C	6: 123,802,350 (GRCm39)	T518A	probably benign	Het
Xdh	T	C	17: 74,220,938 (GRCm39)	D597G	probably damaging	Het
Zfp457	G	A	13: 67,441,862 (GRCm39)	Q238*	probably null	Het
Zfp647	T	C	15: 76,795,928 (GRCm39)	D244G	probably damaging	Het
Zfp870	T	A	17: 33,102,843 (GRCm39)	E162V	possibly 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
R6775:Plscr4	UTSW	9	92,364,858 (GRCm39)	missense	probably benign
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
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'- TGCATTCTCACACATTAGCTGAAC -3'
(R):5'- TCACATGCCTATAGCTGTAATGC -3'

Sequencing Primer
(F):5'- GCGAAGGCTATTAAATGCA -3'
(R):5'- GCCTATAGCTGTAATGCTTGTATC -3'

Posted On

2020-09-02