Mutagenetix > Incidental Mutation

Incidental Mutation 'R1534:Bpifb5'

166807

Institutional Source

Beutler Lab

Gene Symbol

Bpifb5

Ensembl Gene

ENSMUSG00000038572

Gene Name

BPI fold containing family B, member 5

Synonyms

BC018465

MMRRC Submission

039573-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1534 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154065662-154082822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 154071419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 249 (Y249D)

Ref Sequence

ENSEMBL: ENSMUSP00000046683 (fasta)

Gene Model

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

AlphaFold

Q3UQ05

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045959
AA Change: Y249D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046683
Gene: ENSMUSG00000038572
AA Change: Y249D

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

98% (52/53)

Allele List at MGI

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

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,345,881 (GRCm39)	I310T	probably damaging	Het
Adcy5	T	C	16: 35,073,629 (GRCm39)	V469A	possibly damaging	Het
Agrn	C	T	4: 156,261,141 (GRCm39)	C652Y	probably damaging	Het
Ankfn1	C	T	11: 89,413,977 (GRCm39)	V133M	probably damaging	Het
Ankrd13c	A	G	3: 157,706,757 (GRCm39)	T448A	probably benign	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
B4galt2	T	C	4: 117,734,669 (GRCm39)	H233R	probably damaging	Het
Brd1	T	C	15: 88,573,866 (GRCm39)	I1078V	possibly damaging	Het
Celsr3	A	G	9: 108,726,083 (GRCm39)	E3104G	probably damaging	Het
Cyp2c69	T	A	19: 39,839,593 (GRCm39)	K343N	probably benign	Het
Cyp4f18	T	A	8: 72,746,799 (GRCm39)	D331V	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,378 (GRCm39)	V261A	possibly damaging	Het
Dchs1	T	C	7: 105,421,247 (GRCm39)	D391G	probably damaging	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Fat4	T	C	3: 38,944,238 (GRCm39)	F1044L	probably damaging	Het
Frrs1	A	T	3: 116,672,057 (GRCm39)	T52S	probably benign	Het
Gan	G	A	8: 117,914,168 (GRCm39)	V189I	probably benign	Het
Hnf1b	A	G	11: 83,784,409 (GRCm39)		probably benign	Het
Itgae	T	C	11: 73,036,431 (GRCm39)	I1123T	possibly damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lrrc18	A	G	14: 32,730,478 (GRCm39)	K6E	possibly damaging	Het
Map2	G	A	1: 66,452,339 (GRCm39)	V492I	probably benign	Het
Mtr	A	T	13: 12,250,430 (GRCm39)		probably benign	Het
Ncor1	G	T	11: 62,269,330 (GRCm39)	A689E	possibly damaging	Het
Or52n2c	G	A	7: 104,574,621 (GRCm39)	L117F	possibly damaging	Het
Or5w22	T	A	2: 87,363,016 (GRCm39)	V213D	probably damaging	Het
Palm	T	G	10: 79,652,737 (GRCm39)	V42G	probably damaging	Het
Pcm1	G	A	8: 41,740,738 (GRCm39)	V995I	probably benign	Het
Pfkp	A	G	13: 6,669,574 (GRCm39)	V215A	probably damaging	Het
Prkg2	T	C	5: 99,142,420 (GRCm39)	Y238C	probably damaging	Het
Prr14	C	T	7: 127,073,154 (GRCm39)	A167V	probably benign	Het
Ptprn	A	C	1: 75,234,587 (GRCm39)		probably null	Het
Rexo2	A	T	9: 48,380,190 (GRCm39)	I214N	probably damaging	Het
Rrbp1	A	G	2: 143,830,233 (GRCm39)	S645P	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Satb2	A	T	1: 56,987,392 (GRCm39)	C64*	probably null	Het
Sez6	A	G	11: 77,853,871 (GRCm39)	Y347C	probably damaging	Het
Sos2	A	G	12: 69,663,729 (GRCm39)	I585T	probably damaging	Het
Spg11	G	A	2: 121,922,806 (GRCm39)	T881M	probably damaging	Het
Tiam1	A	T	16: 89,664,396 (GRCm39)		probably null	Het
Tlcd5	A	G	9: 43,022,923 (GRCm39)	W126R	probably damaging	Het
Top1	T	C	2: 160,556,152 (GRCm39)	I537T	probably damaging	Het
Trappc6a	A	G	7: 19,248,138 (GRCm39)	S33G	probably benign	Het
Tspan11	G	C	6: 127,926,768 (GRCm39)	V239L	probably benign	Het
Ubr4	T	C	4: 139,155,462 (GRCm39)	V2190A	possibly damaging	Het
Usp28	A	G	9: 48,896,806 (GRCm39)	D9G	possibly damaging	Het
Uty	A	G	Y: 1,245,440 (GRCm39)	V35A	probably benign	Het
Vmn2r56	A	G	7: 12,427,954 (GRCm39)	S771P	probably benign	Het
Wars2	C	T	3: 99,124,177 (GRCm39)	A346V	probably damaging	Het
Wdr87-ps	G	T	7: 29,229,854 (GRCm39)		noncoding transcript	Het
Zfp142	G	T	1: 74,611,247 (GRCm39)	N849K	probably benign	Het
Zfp180	A	T	7: 23,800,948 (GRCm39)	N66I	probably benign	Het

Other mutations in Bpifb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01543:Bpifb5	APN	2	154,075,169 (GRCm39)	missense	possibly damaging	0.86
IGL01676:Bpifb5	APN	2	154,070,969 (GRCm39)	missense	possibly damaging	0.71
IGL02065:Bpifb5	APN	2	154,069,103 (GRCm39)	missense	probably damaging	0.98
IGL02141:Bpifb5	APN	2	154,071,477 (GRCm39)	splice site	probably null
IGL02244:Bpifb5	APN	2	154,067,068 (GRCm39)	missense	possibly damaging	0.93
IGL03118:Bpifb5	APN	2	154,078,673 (GRCm39)	splice site	probably benign
A4554:Bpifb5	UTSW	2	154,069,100 (GRCm39)	missense	possibly damaging	0.71
R0022:Bpifb5	UTSW	2	154,072,268 (GRCm39)	missense	probably damaging	0.98
R0492:Bpifb5	UTSW	2	154,070,820 (GRCm39)	missense	probably benign	0.11
R0654:Bpifb5	UTSW	2	154,070,820 (GRCm39)	missense	probably benign	0.11
R0692:Bpifb5	UTSW	2	154,076,616 (GRCm39)	missense	probably benign	0.33
R0707:Bpifb5	UTSW	2	154,070,820 (GRCm39)	missense	probably benign	0.11
R0898:Bpifb5	UTSW	2	154,075,254 (GRCm39)	missense	probably benign
R1539:Bpifb5	UTSW	2	154,065,776 (GRCm39)	missense	probably benign
R1874:Bpifb5	UTSW	2	154,069,122 (GRCm39)	splice site	probably benign
R1971:Bpifb5	UTSW	2	154,072,264 (GRCm39)	missense	probably benign	0.18
R2001:Bpifb5	UTSW	2	154,075,199 (GRCm39)	missense	possibly damaging	0.53
R3013:Bpifb5	UTSW	2	154,070,775 (GRCm39)	missense	possibly damaging	0.59
R3916:Bpifb5	UTSW	2	154,070,101 (GRCm39)	missense	probably benign
R4499:Bpifb5	UTSW	2	154,082,678 (GRCm39)	missense	possibly damaging	0.53
R5250:Bpifb5	UTSW	2	154,066,881 (GRCm39)	missense	probably benign
R6301:Bpifb5	UTSW	2	154,072,139 (GRCm39)	missense	possibly damaging	0.73
R6836:Bpifb5	UTSW	2	154,069,985 (GRCm39)	missense	probably benign	0.02
R6869:Bpifb5	UTSW	2	154,075,143 (GRCm39)	missense	probably benign	0.33
R7014:Bpifb5	UTSW	2	154,066,876 (GRCm39)	nonsense	probably null
R7300:Bpifb5	UTSW	2	154,070,066 (GRCm39)	missense	possibly damaging	0.85
R7427:Bpifb5	UTSW	2	154,067,042 (GRCm39)	missense	probably benign
R7428:Bpifb5	UTSW	2	154,067,042 (GRCm39)	missense	probably benign
R7439:Bpifb5	UTSW	2	154,070,853 (GRCm39)	missense	possibly damaging	0.71
R7448:Bpifb5	UTSW	2	154,072,105 (GRCm39)	missense	possibly damaging	0.53
R7935:Bpifb5	UTSW	2	154,070,975 (GRCm39)	missense	probably benign	0.01
R8964:Bpifb5	UTSW	2	154,072,198 (GRCm39)	missense	possibly damaging	0.96
R9049:Bpifb5	UTSW	2	154,070,096 (GRCm39)	missense	probably benign	0.00
R9058:Bpifb5	UTSW	2	154,080,817 (GRCm39)	missense	possibly damaging	0.85
R9349:Bpifb5	UTSW	2	154,067,005 (GRCm39)	missense	possibly damaging	0.96
T0975:Bpifb5	UTSW	2	154,071,384 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CTTATTTCAGGAGGCCCATGCTCAG -3'
(R):5'- TGCCTACCTTCCGTTACAGACAGAC -3'

Sequencing Primer
(F):5'- GCCCATGCTCAGCCATC -3'
(R):5'- CATTCTCGGAGCAGACTCAG -3'

Posted On

2014-04-13