Mutagenetix > Incidental Mutation

Incidental Mutation 'R5410:Bpifb9a'

426483

Institutional Source

Beutler Lab

Gene Symbol

Bpifb9a

Ensembl Gene

ENSMUSG00000067998

Gene Name

BPI fold containing family B, member 9A

Synonyms

4833413D08Rik, vomeromodulin

MMRRC Submission

042979-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5410 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154099799-154113165 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 154112155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 564 (N564Y)

Ref Sequence

ENSEMBL: ENSMUSP00000086314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088924]

AlphaFold

Q80XI7

Predicted Effect

probably benign
Transcript: ENSMUST00000088924
AA Change: N564Y

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000086314
Gene: ENSMUSG00000067998
AA Change: N564Y

Domain	Start	End	E-Value	Type
low complexity region	60	77	N/A	INTRINSIC
low complexity region	122	157	N/A	INTRINSIC
low complexity region	167	181	N/A	INTRINSIC
low complexity region	184	203	N/A	INTRINSIC
Pfam:LBP_BPI_CETP	216	377	1.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147299

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	G	8: 41,134,103 (GRCm39)	M524V	probably benign	Het
Adamts20	T	A	15: 94,179,838 (GRCm39)	N1788I	possibly damaging	Het
Arfgef3	T	G	10: 18,486,985 (GRCm39)	I1350L	probably damaging	Het
Arhgap17	A	G	7: 122,896,716 (GRCm39)		probably null	Het
Ascl5	A	T	1: 135,978,926 (GRCm39)	I129F	probably damaging	Het
AU040320	A	T	4: 126,717,509 (GRCm39)	H362L	possibly damaging	Het
Cdon	G	T	9: 35,381,331 (GRCm39)	D574Y	probably damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Ces1e	T	A	8: 93,937,070 (GRCm39)	I334F	possibly damaging	Het
Clip2	G	A	5: 134,551,645 (GRCm39)	T159M	possibly damaging	Het
Cntn3	T	A	6: 102,255,314 (GRCm39)	T195S	probably benign	Het
Csmd2	C	A	4: 128,442,612 (GRCm39)	H3221Q	probably benign	Het
Cyp2c68	T	C	19: 39,687,728 (GRCm39)	D423G	possibly damaging	Het
Dennd3	C	T	15: 73,419,297 (GRCm39)	T696M	probably benign	Het
Ep300	T	C	15: 81,533,055 (GRCm39)	M1704T	unknown	Het
Exoc2	A	G	13: 31,048,839 (GRCm39)	F738S	probably damaging	Het
Fis1	A	G	5: 136,994,420 (GRCm39)	E36G	probably damaging	Het
Galnt1	A	G	18: 24,400,604 (GRCm39)	I237V	probably benign	Het
Gspt1	A	T	16: 11,048,374 (GRCm39)	I416N	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hykk	G	A	9: 54,853,350 (GRCm39)	C224Y	probably damaging	Het
Ifi211	T	C	1: 173,733,829 (GRCm39)	T111A	probably benign	Het
Il17rd	T	C	14: 26,817,868 (GRCm39)	Y186H	probably damaging	Het
Klhl29	G	T	12: 5,141,366 (GRCm39)	N539K	probably benign	Het
Lmbr1l	T	C	15: 98,807,143 (GRCm39)	T213A	probably damaging	Het
Madd	C	T	2: 90,984,859 (GRCm39)	R1318Q	probably damaging	Het
Mecom	C	A	3: 30,051,870 (GRCm39)	A182S	probably benign	Het
Or13c25	C	A	4: 52,910,991 (GRCm39)	A268S	probably benign	Het
Or1e1	C	T	11: 73,244,632 (GRCm39)	P18S	probably benign	Het
Or4f56	C	T	2: 111,703,637 (GRCm39)	A188T	probably damaging	Het
Or52z1	A	T	7: 103,436,581 (GRCm39)	V301E	probably damaging	Het
Otud4	T	A	8: 80,399,626 (GRCm39)	M780K	probably benign	Het
Pdia5	A	G	16: 35,273,906 (GRCm39)	V130A	probably damaging	Het
Phldb2	T	A	16: 45,645,975 (GRCm39)	H202L	possibly damaging	Het
Ppig	G	A	2: 69,566,241 (GRCm39)	G136E	probably null	Het
Prr14l	C	A	5: 32,985,121 (GRCm39)	R1458L	probably damaging	Het
Ptpn3	T	C	4: 57,205,019 (GRCm39)	Y714C	probably damaging	Het
Ptprr	T	C	10: 116,024,235 (GRCm39)	V182A	possibly damaging	Het
Rai14	A	G	15: 10,575,024 (GRCm39)	Y645H	probably damaging	Het
Rasgrp3	T	C	17: 75,804,042 (GRCm39)	I115T	probably benign	Het
Rc3h1	G	T	1: 160,792,533 (GRCm39)	R990L	possibly damaging	Het
Rdh5	T	A	10: 128,754,160 (GRCm39)	Q21L	probably benign	Het
Rfx8	A	G	1: 39,749,316 (GRCm39)		probably null	Het
Scap	A	G	9: 110,203,250 (GRCm39)		probably null	Het
Shank1	T	A	7: 44,001,246 (GRCm39)	S988R	unknown	Het
Slc16a14	T	A	1: 84,885,145 (GRCm39)	I465F	probably damaging	Het
Slc41a2	A	G	10: 83,117,232 (GRCm39)		probably null	Het
Tab2	T	C	10: 7,795,585 (GRCm39)	H225R	possibly damaging	Het
Tbx19	T	A	1: 164,987,941 (GRCm39)	N64I	probably damaging	Het
Tmprss11f	A	T	5: 86,677,965 (GRCm39)	I268K	probably damaging	Het
Tox2	A	G	2: 163,162,293 (GRCm39)	M388V	probably benign	Het
Trbv17	T	C	6: 41,140,472 (GRCm39)	L109P	probably damaging	Het
Trim72	A	G	7: 127,609,095 (GRCm39)	H299R	probably damaging	Het
Ulbp3	G	A	10: 3,076,473 (GRCm39)		noncoding transcript	Het
Vmn1r63	C	T	7: 5,806,189 (GRCm39)	V148I	possibly damaging	Het
Zfp938	A	C	10: 82,061,092 (GRCm39)	H509Q	possibly damaging	Het
Zfyve16	A	G	13: 92,657,739 (GRCm39)	V724A	probably benign	Het
Zscan10	T	C	17: 23,829,395 (GRCm39)	F569L	probably damaging	Het

Other mutations in Bpifb9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Bpifb9a	APN	2	154,106,195 (GRCm39)	nonsense	probably null
IGL00899:Bpifb9a	APN	2	154,106,647 (GRCm39)	splice site	probably null
IGL01998:Bpifb9a	APN	2	154,110,120 (GRCm39)	critical splice donor site	probably null
IGL02158:Bpifb9a	APN	2	154,108,733 (GRCm39)	splice site	probably benign
IGL02331:Bpifb9a	APN	2	154,104,307 (GRCm39)	missense	possibly damaging	0.45
R0066:Bpifb9a	UTSW	2	154,108,761 (GRCm39)	missense	possibly damaging	0.95
R0480:Bpifb9a	UTSW	2	154,106,608 (GRCm39)	missense	probably benign	0.33
R0545:Bpifb9a	UTSW	2	154,103,870 (GRCm39)	nonsense	probably null
R0904:Bpifb9a	UTSW	2	154,106,145 (GRCm39)	splice site	probably benign
R1028:Bpifb9a	UTSW	2	154,104,327 (GRCm39)	missense	possibly damaging	0.45
R1158:Bpifb9a	UTSW	2	154,104,184 (GRCm39)	missense	probably benign	0.08
R1465:Bpifb9a	UTSW	2	154,112,941 (GRCm39)	missense	possibly damaging	0.85
R1465:Bpifb9a	UTSW	2	154,112,941 (GRCm39)	missense	possibly damaging	0.85
R1902:Bpifb9a	UTSW	2	154,103,911 (GRCm39)	missense	probably benign	0.00
R2015:Bpifb9a	UTSW	2	154,110,120 (GRCm39)	critical splice donor site	probably null
R2152:Bpifb9a	UTSW	2	154,102,055 (GRCm39)	missense	probably benign	0.28
R2206:Bpifb9a	UTSW	2	154,106,161 (GRCm39)	splice site	probably null
R5731:Bpifb9a	UTSW	2	154,104,163 (GRCm39)	missense	possibly damaging	0.87
R5818:Bpifb9a	UTSW	2	154,104,215 (GRCm39)	missense	probably damaging	0.98
R5865:Bpifb9a	UTSW	2	154,108,756 (GRCm39)	missense	probably benign	0.26
R6564:Bpifb9a	UTSW	2	154,102,098 (GRCm39)	missense	probably benign	0.00
R7291:Bpifb9a	UTSW	2	154,109,616 (GRCm39)	missense	probably damaging	1.00
R7294:Bpifb9a	UTSW	2	154,109,616 (GRCm39)	missense	probably damaging	1.00
R7295:Bpifb9a	UTSW	2	154,109,616 (GRCm39)	missense	probably damaging	1.00
R7453:Bpifb9a	UTSW	2	154,106,615 (GRCm39)	missense	probably damaging	0.99
R7570:Bpifb9a	UTSW	2	154,104,183 (GRCm39)	missense	possibly damaging	0.46
R8187:Bpifb9a	UTSW	2	154,111,377 (GRCm39)	missense	probably benign	0.00
R8245:Bpifb9a	UTSW	2	154,104,646 (GRCm39)	missense	probably benign	0.00
R8459:Bpifb9a	UTSW	2	154,102,153 (GRCm39)	missense	probably damaging	0.98
R8481:Bpifb9a	UTSW	2	154,111,399 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAGTATTCATGCCACCACG -3'
(R):5'- GCTCAGCTGTAGGGAAGTATGG -3'

Sequencing Primer
(F):5'- GTATTCATGCCACCACGTAGAATGAG -3'
(R):5'- GACAGCTTAAGGTTTGCCAC -3'

Posted On

2016-09-01