Mutagenetix > Incidental Mutation

Incidental Mutation 'R5124:Bpifa3'

470602

Institutional Source

Beutler Lab

Gene Symbol

Bpifa3

Ensembl Gene

ENSMUSG00000027482

Gene Name

BPI fold containing family A, member 3

Synonyms

1700058C13Rik

MMRRC Submission

042712-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R5124 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153972256-153980276 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 153980057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 230 (Q230*)

Ref Sequence

ENSEMBL: ENSMUSP00000028984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028984] [ENSMUST00000028985] [ENSMUST00000109746] [ENSMUST00000125753]

AlphaFold

Q9D9J8

Predicted Effect

probably null
Transcript: ENSMUST00000028984
AA Change: Q230*

SMART Domains

Protein: ENSMUSP00000028984
Gene: ENSMUSG00000027482
AA Change: Q230*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:LBP_BPI_CETP	47	219	1.2e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000028985

SMART Domains

Protein: ENSMUSP00000028985
Gene: ENSMUSG00000027483

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:LBP_BPI_CETP	83	256	2e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109746

SMART Domains

Protein: ENSMUSP00000105368
Gene: ENSMUSG00000027482

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:LBP_BPI_CETP	47	219	1e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125753

SMART Domains

Protein: ENSMUSP00000135866
Gene: ENSMUSG00000027482

Domain	Start	End	E-Value	Type
Pfam:LBP_BPI_CETP	1	95	4.1e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144665

Meta Mutation Damage Score

0.9659

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,401,289 (GRCm39)	I65N	probably damaging	Het
Adpgk	A	G	9: 59,222,561 (GRCm39)	D496G	possibly damaging	Het
Agbl4	A	G	4: 111,513,525 (GRCm39)	M424V	probably benign	Het
Akap10	C	T	11: 61,807,015 (GRCm39)	A72T	probably damaging	Het
Cog4	G	T	8: 111,573,825 (GRCm39)	R48L	probably damaging	Het
Cop1	A	G	1: 159,105,682 (GRCm39)	Y33C	probably damaging	Het
Cyp26a1	A	T	19: 37,689,665 (GRCm39)	I454L	probably benign	Het
Ddr1	T	C	17: 35,994,489 (GRCm39)	H762R	probably damaging	Het
Dnajc2	A	T	5: 21,968,482 (GRCm39)	S328T	probably benign	Het
Dppa2	G	T	16: 48,131,986 (GRCm39)	V28F	probably damaging	Het
Dusp15	T	A	2: 152,793,275 (GRCm39)	M1L	possibly damaging	Het
Eml5	G	A	12: 98,758,301 (GRCm39)	T1875M	probably damaging	Het
Fam186a	A	G	15: 99,840,977 (GRCm39)	S1756P	possibly damaging	Het
Gm5431	T	A	11: 48,779,866 (GRCm39)	Q630L	probably benign	Het
H6pd	A	G	4: 150,066,512 (GRCm39)	S625P	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnj6	G	T	16: 94,633,518 (GRCm39)	P180T	probably damaging	Het
Lpin3	T	A	2: 160,738,981 (GRCm39)	M263K	probably benign	Het
Lrp2	A	T	2: 69,331,834 (GRCm39)	D1640E	probably damaging	Het
Lypd2	C	T	15: 74,604,347 (GRCm39)	A74T	probably benign	Het
Map4k1	T	C	7: 28,688,257 (GRCm39)	L223P	probably damaging	Het
Myh7	A	T	14: 55,223,199 (GRCm39)	Y715*	probably null	Het
Myo9b	T	C	8: 71,808,483 (GRCm39)	S1697P	probably damaging	Het
Neb	T	C	2: 52,171,510 (GRCm39)	E1661G	probably damaging	Het
Nek8	A	T	11: 78,063,765 (GRCm39)	M80K	probably damaging	Het
Nup188	T	A	2: 30,220,947 (GRCm39)	L979Q	probably damaging	Het
Or4c113	A	T	2: 88,885,431 (GRCm39)	V113D	probably damaging	Het
P4htm	T	A	9: 108,459,141 (GRCm39)	S264C	possibly damaging	Het
Pcdha8	A	G	18: 37,126,768 (GRCm39)	T417A	probably benign	Het
Pclo	T	C	5: 14,727,406 (GRCm39)		probably benign	Het
Prox1	T	A	1: 189,893,476 (GRCm39)	N323I	possibly damaging	Het
Prune2	A	T	19: 17,177,274 (GRCm39)	R222S	probably damaging	Het
Psmd2	C	A	16: 20,471,448 (GRCm39)	R100S	possibly damaging	Het
Qrich2	A	T	11: 116,337,599 (GRCm39)	M1963K	probably damaging	Het
Rbm39	C	T	2: 156,001,082 (GRCm39)	G324D	probably damaging	Het
Rhobtb1	A	T	10: 69,105,731 (GRCm39)		probably null	Het
Rhov	G	T	2: 119,101,568 (GRCm39)	P13T	unknown	Het
Sec14l3	A	G	11: 4,025,209 (GRCm39)	D273G	possibly damaging	Het
Sirpd	T	A	3: 15,385,639 (GRCm39)	R88*	probably null	Het
Slco2a1	T	A	9: 102,927,365 (GRCm39)	I86N	probably damaging	Het
Smg1	A	T	7: 117,812,235 (GRCm39)	S19T	probably benign	Het
Stk32a	T	C	18: 43,438,082 (GRCm39)	S194P	probably benign	Het
Syna	G	A	5: 134,588,424 (GRCm39)	S175L	possibly damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tmem151b	T	C	17: 45,858,045 (GRCm39)	Y67C	probably damaging	Het
Tshz1	C	T	18: 84,033,592 (GRCm39)	R272Q	probably damaging	Het
Tti1	A	G	2: 157,850,115 (GRCm39)	S375P	probably damaging	Het
Vcan	T	C	13: 89,873,636 (GRCm39)	K73E	probably damaging	Het
Vmn1r202	C	T	13: 22,685,920 (GRCm39)	V166I	probably benign	Het
Vmn2r10	A	G	5: 109,154,286 (GRCm39)	V6A	probably benign	Het
Zfhx4	A	G	3: 5,307,107 (GRCm39)	D111G	probably damaging	Het
Zhx1	C	G	15: 57,917,470 (GRCm39)	G259R	probably damaging	Het

Other mutations in Bpifa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01522:Bpifa3	APN	2	153,979,502 (GRCm39)	missense	probably damaging	1.00
R0023:Bpifa3	UTSW	2	153,980,070 (GRCm39)	missense	probably damaging	0.97
R1067:Bpifa3	UTSW	2	153,979,529 (GRCm39)	missense	probably damaging	1.00
R4163:Bpifa3	UTSW	2	153,977,516 (GRCm39)	missense	probably damaging	0.97
R4614:Bpifa3	UTSW	2	153,978,200 (GRCm39)	missense	probably damaging	0.99
R5704:Bpifa3	UTSW	2	153,979,562 (GRCm39)	critical splice donor site	probably null
R5706:Bpifa3	UTSW	2	153,977,498 (GRCm39)	missense	probably damaging	0.98
R5975:Bpifa3	UTSW	2	153,978,241 (GRCm39)	missense	probably damaging	0.96
R6116:Bpifa3	UTSW	2	153,975,633 (GRCm39)	missense	possibly damaging	0.90
R6858:Bpifa3	UTSW	2	153,979,514 (GRCm39)	missense	probably benign	0.12
R8503:Bpifa3	UTSW	2	153,972,550 (GRCm39)	missense	probably damaging	1.00
R9088:Bpifa3	UTSW	2	153,975,685 (GRCm39)	missense	possibly damaging	0.64
R9325:Bpifa3	UTSW	2	153,975,600 (GRCm39)	missense	probably damaging	1.00
Z1176:Bpifa3	UTSW	2	153,972,391 (GRCm39)	start gained	probably benign
Z1177:Bpifa3	UTSW	2	153,978,212 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ACGGTTGAACTTCTCCAGC -3'
(R):5'- AGGACAGGATGTTTTGGGACC -3'

Sequencing Primer
(F):5'- TCTCACAGTCTTGGAAATAGAGGAC -3'
(R):5'- AGGATGTTTTGGGACCTGGGG -3'

Posted On

2017-03-23