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

Other mutations in Bpifb9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Bpifb9a	APN	2	154264275	nonsense	probably null
IGL00899:Bpifb9a	APN	2	154264727	splice site	probably null
IGL01998:Bpifb9a	APN	2	154268200	critical splice donor site	probably null
IGL02158:Bpifb9a	APN	2	154266813	splice site	probably benign
R0066:Bpifb9a	UTSW	2	154266841	missense	possibly damaging	0.95
R0480:Bpifb9a	UTSW	2	154264688	missense	probably benign	0.33
R0545:Bpifb9a	UTSW	2	154261950	nonsense	probably null
R0904:Bpifb9a	UTSW	2	154264225	splice site	probably benign
R1028:Bpifb9a	UTSW	2	154262407	missense	possibly damaging	0.45
R1158:Bpifb9a	UTSW	2	154262264	missense	probably benign	0.08
R1465:Bpifb9a	UTSW	2	154271021	missense	possibly damaging	0.85
R1465:Bpifb9a	UTSW	2	154271021	missense	possibly damaging	0.85
R1902:Bpifb9a	UTSW	2	154261991	missense	probably benign	0.00
R2015:Bpifb9a	UTSW	2	154268200	critical splice donor site	probably null
R2152:Bpifb9a	UTSW	2	154260135	missense	probably benign	0.28
R2206:Bpifb9a	UTSW	2	154264241	splice site	probably null
R5410:Bpifb9a	UTSW	2	154270235	missense	probably benign	0.05
R5731:Bpifb9a	UTSW	2	154262243	missense	possibly damaging	0.87
R5818:Bpifb9a	UTSW	2	154262295	missense	probably damaging	0.98
R5865:Bpifb9a	UTSW	2	154266836	missense	probably benign	0.26
R6564:Bpifb9a	UTSW	2	154260178	missense	probably benign	0.00
R7291:Bpifb9a	UTSW	2	154267696	missense	probably damaging	1.00
R7294:Bpifb9a	UTSW	2	154267696	missense	probably damaging	1.00
R7295:Bpifb9a	UTSW	2	154267696	missense	probably damaging	1.00
R7453:Bpifb9a	UTSW	2	154264695	missense	probably damaging	0.99
R7570:Bpifb9a	UTSW	2	154262263	missense	possibly damaging	0.46
R8187:Bpifb9a	UTSW	2	154269457	missense	probably benign	0.00
R8245:Bpifb9a	UTSW	2	154262726	missense	probably benign	0.00
R8459:Bpifb9a	UTSW	2	154260233	missense	probably damaging	0.98
R8481:Bpifb9a	UTSW	2	154269479	missense	probably benign

Posted On

2015-04-16