Mutagenetix > Incidental Mutation

Incidental Mutation 'R5993:Bpifb3'

480933

Institutional Source

Beutler Lab

Gene Symbol

Bpifb3

Ensembl Gene

ENSMUSG00000068008

Gene Name

BPI fold containing family B, member 3

Synonyms

Rya3

MMRRC Submission

044172-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5993 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153760150-153774916 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 153771234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 382 (M382K)

Ref Sequence

ENSEMBL: ENSMUSP00000105382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088950] [ENSMUST00000109760]

AlphaFold

Q80ZU7

Predicted Effect

probably benign
Transcript: ENSMUST00000088950
AA Change: M382K

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000086342
Gene: ENSMUSG00000068008
AA Change: M382K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
BPI1	30	272	3.22e-52	SMART
BPI2	271	471	1.4e-70	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109760
AA Change: M382K

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105382
Gene: ENSMUSG00000068008
AA Change: M382K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
BPI1	30	272	3.22e-52	SMART
BPI2	271	471	1.4e-70	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	G	T	15: 94,236,604 (GRCm39)	N805K	probably damaging	Het
Add1	A	C	5: 34,758,877 (GRCm39)	S64R	probably damaging	Het
Alas1	A	G	9: 106,111,328 (GRCm39)	F613L	probably benign	Het
Ankrd17	A	T	5: 90,487,531 (GRCm39)		probably benign	Het
Anks3	C	T	16: 4,776,001 (GRCm39)	G67D	probably damaging	Het
Aspm	C	T	1: 139,407,269 (GRCm39)	T2052I	probably benign	Het
Atp8b4	C	T	2: 126,245,154 (GRCm39)	V332I	probably benign	Het
Bin2	CGGAGCTGA	C	15: 100,542,901 (GRCm39)		probably null	Het
Ccdc149	C	T	5: 52,560,117 (GRCm39)	R246Q	probably damaging	Het
Ccdc57	T	C	11: 120,785,550 (GRCm39)	K462E	possibly damaging	Het
Cux1	T	C	5: 136,392,125 (GRCm39)	T9A	probably benign	Het
Cyp2c23	A	G	19: 44,000,799 (GRCm39)	Y362H	probably damaging	Het
D430041D05Rik	A	G	2: 103,998,412 (GRCm39)	I998T	probably damaging	Het
Dclre1a	A	C	19: 56,531,169 (GRCm39)	Y726D	probably damaging	Het
Dnah5	T	C	15: 28,299,372 (GRCm39)	V1578A	probably benign	Het
Dppa4	C	T	16: 48,109,709 (GRCm39)	R110*	probably null	Het
Drc7	T	A	8: 95,800,820 (GRCm39)	V614E	probably benign	Het
Garin2	C	A	12: 78,762,210 (GRCm39)	N12K	probably damaging	Het
Gcc1	G	A	6: 28,424,851 (GRCm39)		probably null	Het
Greb1l	G	A	18: 10,544,455 (GRCm39)	D1350N	probably benign	Het
Kcnc1	G	A	7: 46,076,956 (GRCm39)	V253M	probably damaging	Het
Krt78	T	A	15: 101,858,884 (GRCm39)	I323F	probably damaging	Het
Man2b2	A	G	5: 36,978,324 (GRCm39)	V320A	probably benign	Het
Mphosph9	A	T	5: 124,454,161 (GRCm39)	F112Y	probably benign	Het
Mrc1	A	G	2: 14,310,138 (GRCm39)	T800A	probably damaging	Het
Mroh1	C	A	15: 76,330,880 (GRCm39)	A1197E	probably damaging	Het
Nlrp10	A	T	7: 108,526,220 (GRCm39)	H39Q	probably benign	Het
Nop2	C	T	6: 125,120,982 (GRCm39)	T588I	probably benign	Het
Oxld1	A	G	11: 120,347,835 (GRCm39)	S121P	probably benign	Het
Pakap	A	G	4: 57,855,273 (GRCm39)	K444E	possibly damaging	Het
Prox1	T	A	1: 189,894,436 (GRCm39)	D3V	probably damaging	Het
Ptk7	T	C	17: 46,876,296 (GRCm39)	T1052A	probably benign	Het
Rhot2	T	A	17: 26,060,085 (GRCm39)	T299S	probably benign	Het
Rhov	A	G	2: 119,100,533 (GRCm39)	F235L	probably damaging	Het
Runx1t1	A	T	4: 13,841,863 (GRCm39)	R158S	probably damaging	Het
Runx1t1	A	T	4: 13,875,490 (GRCm39)	E431D	probably benign	Het
Sema3e	A	G	5: 14,274,307 (GRCm39)	E186G	probably damaging	Het
Sema5b	T	A	16: 35,466,572 (GRCm39)	L158H	probably damaging	Het
Serpina3j	A	G	12: 104,280,946 (GRCm39)	T40A	probably benign	Het
Shroom3	A	T	5: 93,088,047 (GRCm39)	S185C	probably damaging	Het
Skint6	A	T	4: 112,666,276 (GRCm39)	V1183D	probably benign	Het
Smg1	A	G	7: 117,739,732 (GRCm39)	V3405A	probably benign	Het
Supt16	C	A	14: 52,415,791 (GRCm39)	R357L	probably damaging	Het
Thrap3	A	T	4: 126,069,253 (GRCm39)		probably null	Het
Topaz1	T	C	9: 122,578,104 (GRCm39)	L338S	probably benign	Het
Ttll3	T	A	6: 113,374,992 (GRCm39)	Y139*	probably null	Het
Ttn	T	G	2: 76,626,251 (GRCm39)	D6641A	probably damaging	Het
Wwc1	T	C	11: 35,743,163 (GRCm39)	D886G	probably benign	Het
Zc3h7a	T	A	16: 10,968,526 (GRCm39)	K484N	probably damaging	Het

Other mutations in Bpifb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01982:Bpifb3	APN	2	153,767,521 (GRCm39)	missense	probably benign	0.42
IGL02568:Bpifb3	APN	2	153,766,721 (GRCm39)	missense	probably benign	0.02
IGL02817:Bpifb3	APN	2	153,761,566 (GRCm39)	missense	unknown
IGL03175:Bpifb3	APN	2	153,761,568 (GRCm39)	missense	unknown
R0478:Bpifb3	UTSW	2	153,773,400 (GRCm39)	splice site	probably benign
R0538:Bpifb3	UTSW	2	153,765,789 (GRCm39)	missense	probably benign	0.05
R1633:Bpifb3	UTSW	2	153,764,504 (GRCm39)	missense	probably damaging	1.00
R1850:Bpifb3	UTSW	2	153,771,264 (GRCm39)	missense	possibly damaging	0.69
R1874:Bpifb3	UTSW	2	153,767,760 (GRCm39)	missense	probably benign	0.01
R6120:Bpifb3	UTSW	2	153,773,363 (GRCm39)	missense	probably benign	0.12
R6170:Bpifb3	UTSW	2	153,761,557 (GRCm39)	missense	unknown
R6216:Bpifb3	UTSW	2	153,767,773 (GRCm39)	missense	probably benign	0.17
R6274:Bpifb3	UTSW	2	153,771,243 (GRCm39)	missense	possibly damaging	0.87
R6431:Bpifb3	UTSW	2	153,766,728 (GRCm39)	missense	probably damaging	1.00
R6466:Bpifb3	UTSW	2	153,764,108 (GRCm39)	missense	probably damaging	0.99
R6609:Bpifb3	UTSW	2	153,762,568 (GRCm39)	critical splice donor site	probably null
R7334:Bpifb3	UTSW	2	153,761,654 (GRCm39)	missense	probably damaging	1.00
R8111:Bpifb3	UTSW	2	153,764,609 (GRCm39)	missense	probably benign	0.00
R8375:Bpifb3	UTSW	2	153,767,715 (GRCm39)	missense	probably benign	0.01
R8812:Bpifb3	UTSW	2	153,764,516 (GRCm39)	missense	probably benign	0.00
R9049:Bpifb3	UTSW	2	153,767,810 (GRCm39)	missense	probably benign	0.08
Z1177:Bpifb3	UTSW	2	153,767,709 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- AAACAGAAGGTTCCGGTCTG -3'
(R):5'- CCCTGCTACTTGATCTGTAGTG -3'

Sequencing Primer
(F):5'- AGAAGGTTCCGGTCTGCAGTC -3'
(R):5'- TGATCTGTAGTGACCACCATG -3'

Posted On

2017-06-26