Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01998:Bpifb9a'

182982

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 #

IGL01998

Quality Score

Status

Chromosome

Chromosomal Location

154099799-154113165 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 154110120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000086314 (fasta)

Gene Model

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

AlphaFold

Q80XI7

Predicted Effect

probably null
Transcript: ENSMUST00000088924

SMART Domains

Protein: ENSMUSP00000086314
Gene: ENSMUSG00000067998

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arpc3	T	C	5: 122,541,470 (GRCm39)	C78R	probably damaging	Het
Atp6v0b	A	G	4: 117,743,263 (GRCm39)		probably null	Het
B3gnt8	A	G	7: 25,328,203 (GRCm39)	Y211C	probably damaging	Het
Birc6	T	C	17: 74,886,880 (GRCm39)	I736T	probably benign	Het
Bltp1	T	C	3: 37,011,165 (GRCm39)	S1788P	possibly damaging	Het
C3ar1	A	T	6: 122,827,899 (GRCm39)	M106K	probably damaging	Het
C9orf72	A	T	4: 35,194,179 (GRCm39)	D205E	probably benign	Het
Cab39l	T	A	14: 59,734,344 (GRCm39)	L21Q	probably damaging	Het
Casp1	A	T	9: 5,303,043 (GRCm39)	I166F	probably damaging	Het
Cd180	A	G	13: 102,841,722 (GRCm39)	E256G	probably damaging	Het
Clca4a	T	C	3: 144,663,887 (GRCm39)	T519A	probably damaging	Het
Clstn3	A	T	6: 124,435,622 (GRCm39)	L233Q	probably damaging	Het
Crlf3	G	A	11: 79,948,845 (GRCm39)		probably benign	Het
Depdc5	T	C	5: 33,102,495 (GRCm39)		probably benign	Het
Drc7	T	A	8: 95,785,821 (GRCm39)	C226S	probably damaging	Het
Epha5	T	A	5: 84,232,593 (GRCm39)	D807V	probably damaging	Het
Fat2	A	G	11: 55,187,021 (GRCm39)	L1275P	probably benign	Het
Fv1	T	C	4: 147,953,784 (GRCm39)	C117R	possibly damaging	Het
Ighg2b	C	A	12: 113,270,709 (GRCm39)	M140I	unknown	Het
Klra5	A	T	6: 129,883,676 (GRCm39)	Y60*	probably null	Het
Lmtk2	C	T	5: 144,112,883 (GRCm39)	T1201I	probably damaging	Het
Ncapd2	A	T	6: 125,150,078 (GRCm39)	S917T	probably benign	Het
Ncapd2	A	T	6: 125,146,896 (GRCm39)	L1230H	probably damaging	Het
Nfx1	T	A	4: 41,004,353 (GRCm39)	I708N	probably damaging	Het
Notch2	A	T	3: 98,050,422 (GRCm39)	D1899V	probably damaging	Het
Npepl1	T	A	2: 173,957,993 (GRCm39)		probably benign	Het
Nps	T	A	7: 134,870,481 (GRCm39)		probably benign	Het
Nrg1	T	C	8: 32,408,162 (GRCm39)	S24G	probably damaging	Het
Or1j20	A	G	2: 36,759,658 (GRCm39)	N27D	probably benign	Het
Or2ag16	G	A	7: 106,351,758 (GRCm39)	T279M	possibly damaging	Het
Or2t48	A	T	11: 58,420,403 (GRCm39)	Y136*	probably null	Het
Or4k2	C	A	14: 50,424,105 (GRCm39)	V190L	probably benign	Het
Pigx	G	T	16: 31,903,428 (GRCm39)	T211K	probably benign	Het
Pink1	A	G	4: 138,048,053 (GRCm39)	I223T	probably damaging	Het
Plat	G	A	8: 23,257,163 (GRCm39)	A15T	probably benign	Het
Ptges2	G	A	2: 32,291,542 (GRCm39)	A310T	possibly damaging	Het
Rsl1d1	A	G	16: 11,012,509 (GRCm39)	S306P	possibly damaging	Het
Rxfp1	T	C	3: 79,567,403 (GRCm39)	K316E	probably benign	Het
Scn10a	A	G	9: 119,438,742 (GRCm39)	I1708T	probably damaging	Het
Sdk2	A	T	11: 113,729,358 (GRCm39)	F1073Y	probably damaging	Het
Sp100	A	G	1: 85,594,650 (GRCm39)	D170G	probably benign	Het
Spock1	A	T	13: 57,583,994 (GRCm39)		probably benign	Het
Strbp	A	G	2: 37,515,297 (GRCm39)	L243P	probably damaging	Het
Tex55	A	T	16: 38,648,586 (GRCm39)	D174E	probably benign	Het
Tgm5	T	A	2: 120,882,920 (GRCm39)	T446S	probably damaging	Het
Tmem59l	C	T	8: 70,937,431 (GRCm39)	V239I	probably benign	Het
Trav8-1	A	T	14: 53,707,662 (GRCm39)	T101S	probably benign	Het
Triml1	T	C	8: 43,594,350 (GRCm39)	D27G	probably damaging	Het
Vmn2r54	T	C	7: 12,349,227 (GRCm39)	E785G	probably benign	Het
Vps13c	A	G	9: 67,862,350 (GRCm39)		probably null	Het
Wwp2	C	T	8: 108,276,153 (GRCm39)	R64C	probably damaging	Het
Zfp608	T	C	18: 55,024,890 (GRCm39)	H1460R	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
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
R5410:Bpifb9a	UTSW	2	154,112,155 (GRCm39)	missense	probably benign	0.05
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

Posted On

2014-05-07