Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00833:Bpifb9a'

9288

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 #

IGL00833

Quality Score

Status

Chromosome

Chromosomal Location

154257854-154271245 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 154264275 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 358 (Q358*)

Ref Sequence

ENSEMBL: ENSMUSP00000086314 (fasta)

Gene Model

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

AlphaFold

Q80XI7

Predicted Effect

probably null
Transcript: ENSMUST00000088924
AA Change: Q358*

SMART Domains

Protein: ENSMUSP00000086314
Gene: ENSMUSG00000067998
AA Change: Q358*

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,217,180	E350G	probably damaging	Het
Apob	T	C	12: 8,010,101	V2861A	probably benign	Het
Cbfa2t2	T	A	2: 154,528,875	Y423N	probably damaging	Het
Cd209e	A	C	8: 3,852,800	M102R	probably benign	Het
Ddx42	T	A	11: 106,231,178	V173D	possibly damaging	Het
Dnah11	A	G	12: 118,179,580	F443L	probably damaging	Het
Exoc4	G	A	6: 33,971,924	E901K	probably damaging	Het
Gp5	T	C	16: 30,309,466	D130G	possibly damaging	Het
H2-T3	T	G	17: 36,187,041	S327R	probably benign	Het
Myo1e	T	C	9: 70,338,778	I417T	probably damaging	Het
Nasp	A	G	4: 116,602,736	V377A	probably damaging	Het
Nbn	A	G	4: 15,964,320	I132V	probably benign	Het
Nckap5	C	A	1: 126,027,152	K622N	probably damaging	Het
Nlrp4e	G	A	7: 23,340,471	V740I	probably benign	Het
Polr3gl	T	G	3: 96,578,560	D130A	probably damaging	Het
Ptprc	T	C	1: 138,078,492	K784R	possibly damaging	Het
Sycp1	A	G	3: 102,876,301		probably null	Het
Tg	C	T	15: 66,688,801	T1004I	probably benign	Het
Tmco5b	T	A	2: 113,296,849	I255N	probably damaging	Het
Ubr4	G	A	4: 139,393,159		probably null	Het
Zeb1	A	G	18: 5,767,774	T762A	probably benign	Het
Zfp345	T	C	2: 150,472,729	E296G	probably damaging	Het

Other mutations in Bpifb9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02331:Bpifb9a	APN	2	154262387	missense	possibly damaging	0.45
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

2012-12-06