Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02331:Bpifb9a'

288677

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bpifb9a

Ensembl Gene

ENSMUSG00000067998

Gene Name

BPI fold containing family B, member 9A

Synonyms

4833413D08Rik, vomeromodulin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02331

Quality Score

Status

Chromosome

Chromosomal Location

154257854-154271245 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154262387 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 250 (D250G)

Ref Sequence

ENSEMBL: ENSMUSP00000086314 (fasta)

Gene Model

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

AlphaFold

Q80XI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088924
AA Change: D250G

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000086314
Gene: ENSMUSG00000067998
AA Change: D250G

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: ENSMUST00000147299

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	T	G	11: 105,971,344 (GRCm38)	F241L	possibly damaging	Het
Alx1	A	G	10: 103,022,299 (GRCm38)	F180L	possibly damaging	Het
Apaf1	T	C	10: 91,059,619 (GRCm38)	D428G	probably damaging	Het
Arap2	G	T	5: 62,649,682 (GRCm38)		probably benign	Het
Arnt2	A	G	7: 84,265,624 (GRCm38)	Y511H	probably damaging	Het
Bmp7	A	T	2: 172,872,931 (GRCm38)	C362S	probably damaging	Het
Ccnk	T	A	12: 108,189,084 (GRCm38)	L100H	probably damaging	Het
Cdh23	T	C	10: 60,465,543 (GRCm38)	I451V	probably damaging	Het
Cemip	A	G	7: 83,963,984 (GRCm38)		probably null	Het
Cep78	T	A	19: 15,974,415 (GRCm38)	Q342L	probably benign	Het
Clca3b	T	C	3: 144,841,406 (GRCm38)		probably benign	Het
Cpb2	A	G	14: 75,283,404 (GRCm38)	R420G	possibly damaging	Het
Cyp2c50	A	T	19: 40,090,943 (GRCm38)		probably null	Het
Dbnl	T	C	11: 5,799,997 (GRCm38)	*433R	probably null	Het
Elovl5	T	C	9: 77,979,899 (GRCm38)	S191P	possibly damaging	Het
Fbxo42	A	G	4: 141,167,846 (GRCm38)	E40G	probably benign	Het
Fpgt	T	C	3: 155,087,862 (GRCm38)	D176G	possibly damaging	Het
Gm1110	C	A	9: 26,913,287 (GRCm38)		probably null	Het
Grik4	A	T	9: 42,541,988 (GRCm38)	S700R	probably damaging	Het
Herc4	T	C	10: 63,264,160 (GRCm38)	S121P	probably benign	Het
Hps4	T	C	5: 112,369,536 (GRCm38)	V263A	probably benign	Het
Hsd11b1	A	C	1: 193,240,616 (GRCm38)	L81R	probably damaging	Het
Ift122	T	C	6: 115,887,324 (GRCm38)	M310T	probably damaging	Het
Isg20l2	G	T	3: 87,932,087 (GRCm38)	V202L	probably damaging	Het
Klf3	A	G	5: 64,829,072 (GRCm38)	K111E	probably damaging	Het
Kxd1	T	C	8: 70,515,440 (GRCm38)	T128A	probably benign	Het
Lgals7	A	G	7: 28,865,718 (GRCm38)	T94A	probably benign	Het
Lrp5	T	C	19: 3,591,816 (GRCm38)	H1382R	possibly damaging	Het
Muc6	T	C	7: 141,640,459 (GRCm38)	T1434A	possibly damaging	Het
Mybl2	C	T	2: 163,074,685 (GRCm38)	R419W	probably damaging	Het
Myo5b	A	T	18: 74,638,040 (GRCm38)		probably null	Het
Myo7a	A	G	7: 98,053,182 (GRCm38)	V2138A	possibly damaging	Het
Naip1	T	A	13: 100,426,796 (GRCm38)	K620N	probably benign	Het
Ntrk2	T	C	13: 58,846,856 (GRCm38)		probably null	Het
Olfr935	A	G	9: 38,995,106 (GRCm38)	S110P	probably damaging	Het
Osbpl5	A	G	7: 143,709,795 (GRCm38)	V105A	probably benign	Het
Pfkp	A	C	13: 6,597,960 (GRCm38)	F527V	probably benign	Het
Pilra	C	A	5: 137,835,655 (GRCm38)	G47*	probably null	Het
Pkdrej	C	A	15: 85,821,327 (GRCm38)	C136F	probably damaging	Het
Ppp1r16a	T	A	15: 76,691,000 (GRCm38)	M36K	probably benign	Het
Rita1	C	T	5: 120,609,793 (GRCm38)	A147T	probably damaging	Het
Rnf40	T	C	7: 127,589,827 (GRCm38)	V124A	probably benign	Het
St7l	A	G	3: 104,926,588 (GRCm38)	T522A	probably damaging	Het
Stox2	G	A	8: 47,191,944 (GRCm38)	P891L	probably damaging	Het
Trbv12-1	T	C	6: 41,114,038 (GRCm38)	S115P	probably damaging	Het
Trpm1	A	G	7: 64,235,052 (GRCm38)	D827G	probably benign	Het
Ttll6	T	A	11: 96,135,747 (GRCm38)	M119K	probably damaging	Het
Ufl1	C	A	4: 25,251,971 (GRCm38)	C568F	probably damaging	Het
Usp29	A	T	7: 6,962,156 (GRCm38)	I333F	probably benign	Het
Vta1	G	A	10: 14,705,394 (GRCm38)	T23M	probably damaging	Het
Zswim8	A	G	14: 20,723,257 (GRCm38)	D1771G	probably damaging	Het

Other mutations in Bpifb9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Bpifb9a	APN	2	154,264,275 (GRCm38)	nonsense	probably null
IGL00899:Bpifb9a	APN	2	154,264,727 (GRCm38)	splice site	probably null
IGL01998:Bpifb9a	APN	2	154,268,200 (GRCm38)	critical splice donor site	probably null
IGL02158:Bpifb9a	APN	2	154,266,813 (GRCm38)	splice site	probably benign
R0066:Bpifb9a	UTSW	2	154,266,841 (GRCm38)	missense	possibly damaging	0.95
R0480:Bpifb9a	UTSW	2	154,264,688 (GRCm38)	missense	probably benign	0.33
R0545:Bpifb9a	UTSW	2	154,261,950 (GRCm38)	nonsense	probably null
R0904:Bpifb9a	UTSW	2	154,264,225 (GRCm38)	splice site	probably benign
R1028:Bpifb9a	UTSW	2	154,262,407 (GRCm38)	missense	possibly damaging	0.45
R1158:Bpifb9a	UTSW	2	154,262,264 (GRCm38)	missense	probably benign	0.08
R1465:Bpifb9a	UTSW	2	154,271,021 (GRCm38)	missense	possibly damaging	0.85
R1465:Bpifb9a	UTSW	2	154,271,021 (GRCm38)	missense	possibly damaging	0.85
R1902:Bpifb9a	UTSW	2	154,261,991 (GRCm38)	missense	probably benign	0.00
R2015:Bpifb9a	UTSW	2	154,268,200 (GRCm38)	critical splice donor site	probably null
R2152:Bpifb9a	UTSW	2	154,260,135 (GRCm38)	missense	probably benign	0.28
R2206:Bpifb9a	UTSW	2	154,264,241 (GRCm38)	splice site	probably null
R5410:Bpifb9a	UTSW	2	154,270,235 (GRCm38)	missense	probably benign	0.05
R5731:Bpifb9a	UTSW	2	154,262,243 (GRCm38)	missense	possibly damaging	0.87
R5818:Bpifb9a	UTSW	2	154,262,295 (GRCm38)	missense	probably damaging	0.98
R5865:Bpifb9a	UTSW	2	154,266,836 (GRCm38)	missense	probably benign	0.26
R6564:Bpifb9a	UTSW	2	154,260,178 (GRCm38)	missense	probably benign	0.00
R7291:Bpifb9a	UTSW	2	154,267,696 (GRCm38)	missense	probably damaging	1.00
R7294:Bpifb9a	UTSW	2	154,267,696 (GRCm38)	missense	probably damaging	1.00
R7295:Bpifb9a	UTSW	2	154,267,696 (GRCm38)	missense	probably damaging	1.00
R7453:Bpifb9a	UTSW	2	154,264,695 (GRCm38)	missense	probably damaging	0.99
R7570:Bpifb9a	UTSW	2	154,262,263 (GRCm38)	missense	possibly damaging	0.46
R8187:Bpifb9a	UTSW	2	154,269,457 (GRCm38)	missense	probably benign	0.00
R8245:Bpifb9a	UTSW	2	154,262,726 (GRCm38)	missense	probably benign	0.00
R8459:Bpifb9a	UTSW	2	154,260,233 (GRCm38)	missense	probably damaging	0.98
R8481:Bpifb9a	UTSW	2	154,269,479 (GRCm38)	missense	probably benign

Posted On

2015-04-16