Mutagenetix > Incidental Mutation

Incidental Mutation 'R8005:Plscr4'

616576

Institutional Source

Beutler Lab

Gene Symbol

Plscr4

Ensembl Gene

ENSMUSG00000032377

Gene Name

phospholipid scramblase 4

Synonyms

MMRRC Submission

046045-MU

Accession Numbers

Essential gene?

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

Stock #

R8005 (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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	A	G	12: 84,063,774 (GRCm39)	D294G	probably benign	Het
Ak8	A	T	2: 28,602,314 (GRCm39)	S83C	probably benign	Het
Ankrd34b	C	A	13: 92,575,230 (GRCm39)	A154E	possibly damaging	Het
Anks1	A	G	17: 28,278,341 (GRCm39)	D1175G	probably damaging	Het
Ano4	T	A	10: 88,807,183 (GRCm39)	L799F	probably benign	Het
Aplp1	T	C	7: 30,135,470 (GRCm39)		probably null	Het
Apob	A	T	12: 8,059,744 (GRCm39)	H2742L	probably benign	Het
Apol7e	C	T	15: 77,602,277 (GRCm39)	Q292*	probably null	Het
Atp2b1	G	A	10: 98,830,661 (GRCm39)	G374D	probably damaging	Het
B4galt5	A	G	2: 167,143,384 (GRCm39)	S347P	probably damaging	Het
Bcl11b	T	C	12: 107,882,456 (GRCm39)	T620A	probably benign	Het
Bco2	T	A	9: 50,450,213 (GRCm39)	D329V	probably damaging	Het
Cd200l2	T	C	16: 45,352,400 (GRCm39)		probably benign	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Copg2	T	A	6: 30,873,632 (GRCm39)	M1L	possibly damaging	Het
D430041D05Rik	G	A	2: 104,088,599 (GRCm39)	H164Y	possibly damaging	Het
Dscaml1	G	T	9: 45,628,808 (GRCm39)	G1121C	probably damaging	Het
Gas2l1	A	T	11: 5,011,552 (GRCm39)	S426T	probably benign	Het
Gm9195	T	A	14: 72,663,840 (GRCm39)	I2740F	probably benign	Het
Irgm1	A	G	11: 48,757,217 (GRCm39)	I214T	probably damaging	Het
Kbtbd3	C	T	9: 4,330,655 (GRCm39)	T343I	probably damaging	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Ly75	A	T	2: 60,163,278 (GRCm39)	Y804N	probably damaging	Het
Mgat2	A	G	12: 69,232,722 (GRCm39)	H432R	probably damaging	Het
Nsrp1	A	T	11: 76,936,612 (GRCm39)	M528K	probably damaging	Het
Nup54	T	C	5: 92,576,006 (GRCm39)	I162V	probably benign	Het
Obsl1	T	A	1: 75,482,096 (GRCm39)	N258I	probably damaging	Het
Or1j4	A	G	2: 36,740,156 (GRCm39)	T33A	probably benign	Het
Or2y1b	G	T	11: 49,208,968 (GRCm39)	M198I	probably benign	Het
Or5p6	T	C	7: 107,631,470 (GRCm39)	R27G	possibly damaging	Het
Or5p73	T	C	7: 108,064,693 (GRCm39)	V54A	probably benign	Het
Pax2	G	A	19: 44,749,328 (GRCm39)	V20M	probably damaging	Het
Pigb	A	T	9: 72,922,546 (GRCm39)	M13K	unknown	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pik3c2a	T	C	7: 116,017,271 (GRCm39)	Y162C	probably damaging	Het
Pik3c2g	A	T	6: 139,599,067 (GRCm39)	D61V	probably benign	Het
Pramel17	A	G	4: 101,694,448 (GRCm39)	V145A	probably damaging	Het
Prss46	A	G	9: 110,685,144 (GRCm39)	D256G	probably benign	Het
Rims1	G	T	1: 22,482,437 (GRCm39)	D196E		Het
Sbf1	A	G	15: 89,178,408 (GRCm39)	L1498P	probably damaging	Het
Sh2b1	T	C	7: 126,068,479 (GRCm39)	D444G	possibly damaging	Het
Slc7a15	T	G	12: 8,589,395 (GRCm39)	M51L	probably damaging	Het
Slitrk1	T	C	14: 109,150,697 (GRCm39)	I5V	probably benign	Het
Spart	T	A	3: 55,024,773 (GRCm39)	C123S	probably benign	Het
Sry	C	T	Y: 2,663,303 (GRCm39)	R119K	possibly damaging	Het
Tasor2	C	T	13: 3,625,681 (GRCm39)	S1423N	probably benign	Het
Tbcc	T	C	17: 47,201,686 (GRCm39)	V24A	possibly damaging	Het
Tfap2a	T	A	13: 40,872,684 (GRCm39)	M331L	possibly damaging	Het
Thnsl1	A	G	2: 21,216,755 (GRCm39)	I170V	probably benign	Het
Ticrr	T	G	7: 79,343,796 (GRCm39)	S1220R	probably damaging	Het
Tmem262	T	C	19: 6,130,507 (GRCm39)	M77T	possibly damaging	Het
Tmem67	A	G	4: 12,047,821 (GRCm39)	S771P	probably damaging	Het
Tsc2	G	A	17: 24,818,570 (GRCm39)	A1423V	probably damaging	Het
Ubr4	T	A	4: 139,139,941 (GRCm39)	Y1175N	probably damaging	Het
Usp25	G	A	16: 76,873,956 (GRCm39)	A511T	probably benign	Het
Vmn2r115	T	A	17: 23,563,124 (GRCm39)	Y58*	probably null	Het
Wt1	T	C	2: 104,957,789 (GRCm39)		probably null	Het
Zfp735	A	T	11: 73,603,140 (GRCm39)	K695*	probably null	Het
Zkscan14	A	G	5: 145,132,568 (GRCm39)	F321S	possibly damaging	Het
Zswim9	T	C	7: 12,995,064 (GRCm39)	E364G	probably 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
R8008:Plscr4	UTSW	9	92,372,843 (GRCm39)	nonsense	probably null
R8346: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'- GCCTGCATTCTCACACATTAGC -3'
(R):5'- GCCTATAGCTGTAATGCTTGTATC -3'

Sequencing Primer
(F):5'- TGCATTCTCACACATTAGCTGAAC -3'
(R):5'- TGGCTAATGGAGTAGAGATTTCAG -3'

Posted On

2020-01-23