Mutagenetix > Incidental Mutation

Incidental Mutation 'R3847:Pibf1'

277449

Institutional Source

Beutler Lab

Gene Symbol

Pibf1

Ensembl Gene

ENSMUSG00000022064

Gene Name

progesterone immunomodulatory binding factor 1

Synonyms

4930513H15Rik, 4933438D16Rik, 1700017E21Rik, D14Ertd581e, 4933439E17Rik

MMRRC Submission

040895-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99336860-99491929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99374557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 332 (V332E)

Ref Sequence

ENSEMBL: ENSMUSP00000022650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022650]

AlphaFold

E9Q6K3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022650
AA Change: V332E

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064
AA Change: V332E

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
coiled coil region	58	165	N/A	INTRINSIC
coiled coil region	200	364	N/A	INTRINSIC
coiled coil region	396	444	N/A	INTRINSIC
coiled coil region	474	553	N/A	INTRINSIC
coiled coil region	586	679	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228598

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,884,190 (GRCm39)		probably null	Het
Abcc12	C	T	8: 87,280,020 (GRCm39)	E338K	probably benign	Het
Abcc5	A	T	16: 20,190,906 (GRCm39)	S815T	probably benign	Het
Ankrd16	G	A	2: 11,794,619 (GRCm39)	E335K	probably benign	Het
Atm	A	G	9: 53,414,375 (GRCm39)	F905S	possibly damaging	Het
Bckdha	C	T	7: 25,331,077 (GRCm39)	R281H	probably damaging	Het
Blvra	C	T	2: 126,937,111 (GRCm39)	T188I	probably damaging	Het
Bmp8b	C	A	4: 123,009,961 (GRCm39)		probably benign	Het
Cacna2d3	A	G	14: 29,069,077 (GRCm39)		probably null	Het
Cacng8	T	C	7: 3,442,990 (GRCm39)	S84P	probably damaging	Het
Cad	T	A	5: 31,218,994 (GRCm39)	V605E	probably damaging	Het
Ccny	A	G	18: 9,449,641 (GRCm39)	S11P	probably benign	Het
Col3a1	C	A	1: 45,361,150 (GRCm39)	P112T	unknown	Het
Corin	T	C	5: 72,579,508 (GRCm39)	E155G	probably benign	Het
Cul9	T	C	17: 46,836,061 (GRCm39)	Y1195C	probably damaging	Het
Cyp27a1	A	G	1: 74,776,718 (GRCm39)	E501G	probably damaging	Het
Dennd3	T	A	15: 73,414,581 (GRCm39)	N457K	possibly damaging	Het
Dnah7a	T	G	1: 53,540,815 (GRCm39)	I2520L	probably benign	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Fgf14	A	C	14: 124,217,801 (GRCm39)	I234R	probably benign	Het
Foxp4	A	G	17: 48,186,453 (GRCm39)	I442T	unknown	Het
Gad2	T	G	2: 22,575,000 (GRCm39)	D472E	probably benign	Het
Garnl3	G	T	2: 32,882,240 (GRCm39)	H832N	probably benign	Het
Gm13941	T	C	2: 110,935,198 (GRCm39)	M11V	unknown	Het
Gnptab	T	A	10: 88,269,439 (GRCm39)	L714*	probably null	Het
Golgb1	C	A	16: 36,719,095 (GRCm39)	Q334K	probably benign	Het
Gp9	A	G	6: 87,756,133 (GRCm39)	I49M	probably benign	Het
Guf1	A	G	5: 69,718,500 (GRCm39)	N213S	probably damaging	Het
H2-K2	T	G	17: 34,216,303 (GRCm39)	H281P	probably damaging	Het
Hhip	T	A	8: 80,724,124 (GRCm39)	M373L	probably benign	Het
Ifi203	C	T	1: 173,761,362 (GRCm39)	C229Y	possibly damaging	Het
Ighv13-2	A	G	12: 114,321,418 (GRCm39)	L88S	probably damaging	Het
Kcna3	T	C	3: 106,944,012 (GRCm39)	Y92H	possibly damaging	Het
Lmo7	A	G	14: 102,159,531 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,050,703 (GRCm39)	D387G	probably damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mknk2	C	T	10: 80,503,809 (GRCm39)	W367*	probably null	Het
Mocos	A	G	18: 24,809,719 (GRCm39)	K441E	probably damaging	Het
Mpnd	T	C	17: 56,318,692 (GRCm39)	S150P	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Neurod4	C	T	10: 130,106,351 (GRCm39)	V308I	probably benign	Het
Nxf3	C	T	X: 134,974,732 (GRCm39)	V474I	probably benign	Het
Or10d5j	A	T	9: 39,867,877 (GRCm39)	M118K	probably damaging	Het
Or8u10	A	T	2: 85,915,751 (GRCm39)	Y123*	probably null	Het
Pam	T	A	1: 97,782,481 (GRCm39)		probably benign	Het
Pde5a	T	C	3: 122,596,809 (GRCm39)	Y467H	probably damaging	Het
Plxna1	C	A	6: 89,333,501 (GRCm39)	R376L	probably damaging	Het
Proz	A	G	8: 13,123,533 (GRCm39)	E268G	probably benign	Het
Rimbp3	A	T	16: 17,028,163 (GRCm39)	H529L	probably benign	Het
Rnf103	C	G	6: 71,485,859 (GRCm39)	C163W	probably damaging	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Septin11	G	T	5: 93,310,026 (GRCm39)	M276I	probably damaging	Het
Slc30a4	A	G	2: 122,544,192 (GRCm39)	V50A	probably damaging	Het
Sorbs1	A	G	19: 40,302,887 (GRCm39)	V570A	probably damaging	Het
Spout1	T	C	2: 30,067,419 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,095,396 (GRCm39)	L5241P	probably damaging	Het
Tas2r110	T	A	6: 132,845,638 (GRCm39)	I223N	probably damaging	Het
Tead2	T	A	7: 44,881,752 (GRCm39)		probably null	Het
Thsd1	A	G	8: 22,749,427 (GRCm39)	H713R	probably damaging	Het
Ttc21b	A	G	2: 66,073,023 (GRCm39)	L221S	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,428,952 (GRCm39)	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,679,389 (GRCm39)	H612N	probably damaging	Het
Wnk1	C	T	6: 119,946,315 (GRCm39)	G613S	possibly damaging	Het
Zbtb41	T	A	1: 139,351,734 (GRCm39)	H282Q	probably benign	Het
Zfp335	C	A	2: 164,742,026 (GRCm39)		probably null	Het
Zmym2	T	A	14: 57,158,956 (GRCm39)		probably benign	Het

Other mutations in Pibf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Pibf1	APN	14	99,416,885 (GRCm39)	nonsense	probably null
IGL01649:Pibf1	APN	14	99,425,199 (GRCm39)	missense	possibly damaging	0.88
IGL01817:Pibf1	APN	14	99,423,908 (GRCm39)	splice site	probably benign
IGL02322:Pibf1	APN	14	99,448,419 (GRCm39)	missense	probably damaging	1.00
IGL03180:Pibf1	APN	14	99,370,780 (GRCm39)	missense	probably benign	0.14
IGL03269:Pibf1	APN	14	99,425,171 (GRCm39)	missense	probably damaging	0.98
IGL03354:Pibf1	APN	14	99,388,174 (GRCm39)	missense	probably benign	0.13
R0053:Pibf1	UTSW	14	99,377,993 (GRCm39)	missense	probably damaging	1.00
R0969:Pibf1	UTSW	14	99,433,822 (GRCm39)	missense	probably benign	0.02
R0981:Pibf1	UTSW	14	99,388,179 (GRCm39)	critical splice donor site	probably null
R1110:Pibf1	UTSW	14	99,350,409 (GRCm39)	missense	probably damaging	0.99
R1205:Pibf1	UTSW	14	99,338,639 (GRCm39)	missense	probably damaging	1.00
R1356:Pibf1	UTSW	14	99,374,632 (GRCm39)	missense	possibly damaging	0.91
R1432:Pibf1	UTSW	14	99,350,425 (GRCm39)	missense	probably benign	0.14
R1622:Pibf1	UTSW	14	99,423,917 (GRCm39)	missense	probably benign	0.34
R1912:Pibf1	UTSW	14	99,425,245 (GRCm39)	critical splice donor site	probably null
R2393:Pibf1	UTSW	14	99,480,368 (GRCm39)	missense	probably benign	0.07
R4028:Pibf1	UTSW	14	99,416,777 (GRCm39)	missense	probably damaging	0.99
R4673:Pibf1	UTSW	14	99,370,787 (GRCm39)	missense	possibly damaging	0.93
R4857:Pibf1	UTSW	14	99,423,937 (GRCm39)	nonsense	probably null
R4874:Pibf1	UTSW	14	99,377,992 (GRCm39)	missense	probably damaging	1.00
R4992:Pibf1	UTSW	14	99,388,103 (GRCm39)	missense	probably damaging	0.98
R5330:Pibf1	UTSW	14	99,378,082 (GRCm39)	missense	probably damaging	1.00
R5543:Pibf1	UTSW	14	99,350,428 (GRCm39)	missense	probably benign	0.38
R5582:Pibf1	UTSW	14	99,374,566 (GRCm39)	missense	possibly damaging	0.64
R5922:Pibf1	UTSW	14	99,374,524 (GRCm39)	missense	probably benign
R6088:Pibf1	UTSW	14	99,416,794 (GRCm39)	missense	probably benign	0.01
R6169:Pibf1	UTSW	14	99,350,443 (GRCm39)	missense	probably null	0.96
R6226:Pibf1	UTSW	14	99,338,555 (GRCm39)	missense	probably damaging	1.00
R6232:Pibf1	UTSW	14	99,424,014 (GRCm39)	missense	probably benign	0.16
R6339:Pibf1	UTSW	14	99,344,834 (GRCm39)	missense	probably damaging	0.97
R6450:Pibf1	UTSW	14	99,374,646 (GRCm39)	missense	probably damaging	1.00
R6828:Pibf1	UTSW	14	99,423,987 (GRCm39)	missense	probably benign	0.31
R7185:Pibf1	UTSW	14	99,344,752 (GRCm39)	missense	possibly damaging	0.80
R7201:Pibf1	UTSW	14	99,433,844 (GRCm39)	missense	probably damaging	0.99
R7984:Pibf1	UTSW	14	99,459,063 (GRCm39)	missense	probably damaging	1.00
R8125:Pibf1	UTSW	14	99,416,803 (GRCm39)	nonsense	probably null
R8157:Pibf1	UTSW	14	99,433,831 (GRCm39)	missense	probably benign	0.13
R8231:Pibf1	UTSW	14	99,423,997 (GRCm39)	missense	probably benign	0.02
R9061:Pibf1	UTSW	14	99,424,069 (GRCm39)	critical splice donor site	probably null
R9285:Pibf1	UTSW	14	99,480,345 (GRCm39)	missense	probably benign	0.02
R9387:Pibf1	UTSW	14	99,448,436 (GRCm39)	missense	probably damaging	1.00
R9509:Pibf1	UTSW	14	99,338,721 (GRCm39)	missense	probably benign	0.00
R9564:Pibf1	UTSW	14	99,374,610 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TCACATACTGAGGAGCAAATAGC -3'
(R):5'- ATTCCCAGAGACCACTTCTGC -3'

Sequencing Primer
(F):5'- TGGAAACTTTCTAGCCGGAC -3'
(R):5'- GAGACCACTTCTGCCCCAC -3'

Posted On

2015-04-06