Mutagenetix > Incidental Mutation

Incidental Mutation 'R7439:Bpifb5'

576802

Institutional Source

Beutler Lab

Gene Symbol

Bpifb5

Ensembl Gene

ENSMUSG00000038572

Gene Name

BPI fold containing family B, member 5

Synonyms

BC018465

MMRRC Submission

045515-MU

Accession Numbers

Genbank: NM_144890; MGI: 2385160

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

154223742-154240902 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154228933 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 215 (K215E)

Ref Sequence

ENSEMBL: ENSMUSP00000046683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045959]

AlphaFold

Q3UQ05

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045959
AA Change: K215E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046683
Gene: ENSMUSG00000038572
AA Change: K215E

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
coiled coil region	26	54	N/A	INTRINSIC
Pfam:LBP_BPI_CETP	94	231	7.6e-14	PFAM
Blast:BPI2	291	488	4e-91	BLAST
SCOP:d1ewfa2	433	486	8e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530003J23Rik	G	A	10: 117,238,697		probably benign	Het
Acacb	T	C	5: 114,195,642	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,223,069	V1230I	probably benign	Het
Agpat1	T	A	17: 34,610,909	Y77N	probably damaging	Het
Apc	T	A	18: 34,312,073	I674K	probably damaging	Het
Arpc5	T	C	1: 152,771,436	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,297,931	F119L	probably benign	Het
Asap1	A	G	15: 64,130,256	V402A	probably damaging	Het
Aspg	T	C	12: 112,124,821	V479A	possibly damaging	Het
B3galnt2	G	A	13: 13,994,485	V368M	probably benign	Het
Bcl3	T	C	7: 19,822,611	T23A	probably benign	Het
Coa4	T	A	7: 100,539,271	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,491,536		probably null	Het
Dnaaf5	T	G	5: 139,166,113	C506W	probably damaging	Het
Dock3	A	G	9: 107,023,732	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,710,326	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,176,502		probably null	Het
Dsp	A	G	13: 38,195,449	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,636,453	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,051,637	D1192A	probably benign	Het
Epn2	A	T	11: 61,546,848		probably benign	Het
Exoc1	T	A	5: 76,545,348	N360K	probably benign	Het
Fam135b	A	T	15: 71,463,680	V555E	probably damaging	Het
Fam208a	T	A	14: 27,471,645	V934E	probably damaging	Het
Fmn1	A	T	2: 113,441,611	Q108L	unknown	Het
Gcc2	A	G	10: 58,256,901	T48A	probably benign	Het
Gm438	T	C	4: 144,777,762	D273G	probably damaging	Het
Gm6619	T	G	6: 131,490,391	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,722,940	D116V	probably damaging	Het
Hapln3	T	A	7: 79,117,269	T341S	probably benign	Het
Lamb3	C	A	1: 193,332,166	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,440,284	S390T	probably benign	Het
Lrrc63	A	G	14: 75,126,257	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,214,519	M791V	probably benign	Het
Lyg2	A	G	1: 37,911,137	Y37H	possibly damaging	Het
Nrbp1	T	A	5: 31,244,956	M172K	probably damaging	Het
Olfr1044	T	A	2: 86,171,010	D269V	probably damaging	Het
Olfr1261	A	G	2: 89,993,839	I149V	probably benign	Het
Olfr168	T	G	16: 19,530,900	S7R	probably benign	Het
Pcyt2	A	T	11: 120,611,383	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453		probably benign	Het
Phf21b	A	G	15: 84,804,903	S141P	probably damaging	Het
Pigh	G	A	12: 79,089,550	P24S	probably benign	Het
Plekhg3	A	G	12: 76,576,485	D834G	probably damaging	Het
Plekhg5	T	A	4: 152,113,935	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399	I170T	probably damaging	Het
Ptpn9	T	A	9: 57,027,433	Y160*	probably null	Het
Ptprj	T	C	2: 90,449,819	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,463,788	H196L	probably benign	Het
Rnf112	C	T	11: 61,451,028	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,400,046		probably null	Het
Sgsm1	T	C	5: 113,274,321	Y489C	probably damaging	Het
Sis	G	A	3: 72,909,041	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,762,818	Y520C	probably damaging	Het
Smc5	A	G	19: 23,242,700	V467A	probably damaging	Het
Spata20	G	A	11: 94,484,041	A245V	probably benign	Het
Steap3	A	C	1: 120,241,518	F350V	probably benign	Het
Sucnr1	A	G	3: 60,086,696	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,430,615	A594V	probably damaging	Het
Swt1	A	T	1: 151,411,064	F226I	probably benign	Het
Taar7f	A	G	10: 24,049,987	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,126,986		probably null	Het
Taok3	C	A	5: 117,250,909	Q460K	probably damaging	Het
Twf2	A	G	9: 106,214,398	E268G	probably damaging	Het
Upf2	A	T	2: 6,018,932	I698F	unknown	Het
Vmn2r35	T	A	7: 7,817,014	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,392,113	T85A	possibly damaging	Het
Vps13d	A	G	4: 145,105,856	S2833P		Het
Xrn1	T	C	9: 96,051,629	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,922,397	Y567C	probably damaging	Het
Zfp52	A	T	17: 21,560,870	R327*	probably null	Het

Other mutations in Bpifb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01543:Bpifb5	APN	2	154233249	missense	possibly damaging	0.86
IGL01676:Bpifb5	APN	2	154229049	missense	possibly damaging	0.71
IGL02065:Bpifb5	APN	2	154227183	missense	probably damaging	0.98
IGL02141:Bpifb5	APN	2	154229557	splice site	probably null
IGL02244:Bpifb5	APN	2	154225148	missense	possibly damaging	0.93
IGL03118:Bpifb5	APN	2	154236753	splice site	probably benign
A4554:Bpifb5	UTSW	2	154227180	missense	possibly damaging	0.71
R0022:Bpifb5	UTSW	2	154230348	missense	probably damaging	0.98
R0492:Bpifb5	UTSW	2	154228900	missense	probably benign	0.11
R0654:Bpifb5	UTSW	2	154228900	missense	probably benign	0.11
R0692:Bpifb5	UTSW	2	154234696	missense	probably benign	0.33
R0707:Bpifb5	UTSW	2	154228900	missense	probably benign	0.11
R0898:Bpifb5	UTSW	2	154233334	missense	probably benign
R1534:Bpifb5	UTSW	2	154229499	missense	possibly damaging	0.86
R1539:Bpifb5	UTSW	2	154223856	missense	probably benign
R1874:Bpifb5	UTSW	2	154227202	splice site	probably benign
R1971:Bpifb5	UTSW	2	154230344	missense	probably benign	0.18
R2001:Bpifb5	UTSW	2	154233279	missense	possibly damaging	0.53
R3013:Bpifb5	UTSW	2	154228855	missense	possibly damaging	0.59
R3916:Bpifb5	UTSW	2	154228181	missense	probably benign
R4499:Bpifb5	UTSW	2	154240758	missense	possibly damaging	0.53
R5250:Bpifb5	UTSW	2	154224961	missense	probably benign
R6301:Bpifb5	UTSW	2	154230219	missense	possibly damaging	0.73
R6836:Bpifb5	UTSW	2	154228065	missense	probably benign	0.02
R6869:Bpifb5	UTSW	2	154233223	missense	probably benign	0.33
R7014:Bpifb5	UTSW	2	154224956	nonsense	probably null
R7300:Bpifb5	UTSW	2	154228146	missense	possibly damaging	0.85
R7427:Bpifb5	UTSW	2	154225122	missense	probably benign
R7428:Bpifb5	UTSW	2	154225122	missense	probably benign
R7448:Bpifb5	UTSW	2	154230185	missense	possibly damaging	0.53
R7935:Bpifb5	UTSW	2	154229055	missense	probably benign	0.01
R8964:Bpifb5	UTSW	2	154230278	missense	possibly damaging	0.96
R9049:Bpifb5	UTSW	2	154228176	missense	probably benign	0.00
R9058:Bpifb5	UTSW	2	154238897	missense	possibly damaging	0.85
R9349:Bpifb5	UTSW	2	154225085	missense	possibly damaging	0.96
T0975:Bpifb5	UTSW	2	154229464	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TTTTCCCCAGCGGTACTTGG -3'
(R):5'- AAGGGTCTTGATGGCTGAGC -3'

Sequencing Primer
(F):5'- AGCGGTACTTGGCTTCCC -3'
(R):5'- TGTAGACAGGGCTATCCATCCTG -3'

Posted On

2019-10-07