Mutagenetix > Incidental Mutation

Incidental Mutation 'R7185:Pibf1'

559263

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

045237-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99336860-99491929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99344752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 124 (M124K)

Ref Sequence

ENSEMBL: ENSMUSP00000022650 (fasta)

Gene Model

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

AlphaFold

E9Q6K3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022650
AA Change: M124K

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064
AA Change: M124K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	T	A	11: 117,725,599 (GRCm39)	D95E	possibly damaging	Het
Ak7	A	G	12: 105,708,535 (GRCm39)	E330G	probably damaging	Het
B3gat2	A	C	1: 23,802,272 (GRCm39)	D186A	probably damaging	Het
Baz1a	G	A	12: 55,022,093 (GRCm39)	T63M	probably damaging	Het
Bhmt2	A	T	13: 93,799,779 (GRCm39)	M219K	probably benign	Het
Cd200r1	A	G	16: 44,609,975 (GRCm39)	T65A	probably benign	Het
Cdc14a	T	C	3: 116,087,676 (GRCm39)	E494G	probably benign	Het
Cenpf	A	G	1: 189,385,686 (GRCm39)	L2198P	probably damaging	Het
Col4a2	T	A	8: 11,449,739 (GRCm39)	D117E	probably damaging	Het
Ddr2	C	A	1: 169,814,623 (GRCm39)	V607L	probably damaging	Het
Dennd4c	A	G	4: 86,729,687 (GRCm39)	Y763C	probably damaging	Het
Ecscr	T	A	18: 35,849,857 (GRCm39)	T93S	probably benign	Het
Eogt	C	T	6: 97,097,139 (GRCm39)	R321H	probably damaging	Het
Fam174c	G	A	10: 80,008,963 (GRCm39)	G55E	probably damaging	Het
Fras1	T	C	5: 96,784,635 (GRCm39)	S873P	probably damaging	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 141,710,266 (GRCm39)		probably benign	Het
Gm8247	A	G	14: 44,823,859 (GRCm39)	I182V		Het
Gpatch2	T	C	1: 186,958,394 (GRCm39)	S250P	probably damaging	Het
Gramd1b	T	C	9: 40,244,859 (GRCm39)	D183G	probably benign	Het
Hspa5	T	C	2: 34,665,138 (GRCm39)	V433A	probably damaging	Het
Igkv8-30	C	A	6: 70,094,590 (GRCm39)	Q4H	probably benign	Het
Igkv8-30	T	G	6: 70,094,591 (GRCm39)	Q4P	probably damaging	Het
Kcnj5	T	G	9: 32,233,472 (GRCm39)	N281T	probably damaging	Het
L1td1	A	G	4: 98,624,855 (GRCm39)	E350G	possibly damaging	Het
Layn	T	C	9: 50,985,173 (GRCm39)	T128A	possibly damaging	Het
Liph	T	C	16: 21,814,089 (GRCm39)	M11V	probably benign	Het
Lrp1b	C	T	2: 40,691,524 (GRCm39)		probably null	Het
Mcrip1	A	C	11: 120,435,505 (GRCm39)		probably null	Het
Myh1	G	A	11: 67,098,285 (GRCm39)	E486K	probably damaging	Het
Nav1	T	C	1: 135,398,746 (GRCm39)	K612R	possibly damaging	Het
Nek10	A	G	14: 14,846,621 (GRCm38)	K245E	probably benign	Het
Nipal1	T	A	5: 72,824,198 (GRCm39)	S181T	probably damaging	Het
Nme8	A	C	13: 19,862,053 (GRCm39)	L192R	probably damaging	Het
Nol7	G	A	13: 43,560,307 (GRCm39)		probably null	Het
Oas1b	G	A	5: 120,955,837 (GRCm39)	R205H	not run	Het
Or13j1	A	G	4: 43,706,082 (GRCm39)	I162T	possibly damaging	Het
Or4f56	T	G	2: 111,704,167 (GRCm39)	E11A	possibly damaging	Het
Or5w15	A	G	2: 87,568,489 (GRCm39)	Y60H	probably damaging	Het
Pcdhgb6	T	C	18: 37,876,701 (GRCm39)	S470P	probably benign	Het
Pdzk1ip1	A	T	4: 114,946,305 (GRCm39)	H55L	possibly damaging	Het
Prr36	C	T	8: 4,266,458 (GRCm39)	G31R	probably damaging	Het
Ptchd4	C	A	17: 42,814,079 (GRCm39)	A660D	probably damaging	Het
Qsox2	A	G	2: 26,110,718 (GRCm39)	V166A	possibly damaging	Het
Rb1cc1	A	T	1: 6,308,607 (GRCm39)	Y164F	probably damaging	Het
Rest	C	A	5: 77,430,331 (GRCm39)	H917N	probably benign	Het
Rlig1	T	C	10: 100,425,073 (GRCm39)		probably benign	Het
Rnf213	T	C	11: 119,315,024 (GRCm39)	C955R		Het
Scn7a	T	A	2: 66,518,139 (GRCm39)	N1024I	possibly damaging	Het
Sec11c	T	A	18: 65,947,963 (GRCm39)	D134E	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spo11	T	A	2: 172,823,985 (GRCm39)		probably null	Het
Srd5a3	T	C	5: 76,301,419 (GRCm39)	I216T	probably benign	Het
Tcaf3	T	C	6: 42,570,864 (GRCm39)	N296S	probably benign	Het
Tepsin	T	C	11: 119,984,643 (GRCm39)	D259G	probably damaging	Het
Themis	G	A	10: 28,657,873 (GRCm39)	S300N	probably benign	Het
Trhr2	T	A	8: 123,087,396 (GRCm39)	T15S	probably benign	Het
Uts2r	T	C	11: 121,051,706 (GRCm39)	V190A	probably benign	Het
Vmn2r77	A	C	7: 86,451,035 (GRCm39)	D307A	probably benign	Het
Xpa	G	T	4: 46,183,078 (GRCm39)	T237K	probably benign	Het
Zfp1006	A	T	8: 129,946,502 (GRCm39)	C108S	probably benign	Het
Zfp335	A	G	2: 164,735,164 (GRCm39)		probably null	Het
Zfp451	A	T	1: 33,808,974 (GRCm39)	D962E	probably damaging	Het
Zfp60	A	G	7: 27,437,830 (GRCm39)	T46A	probably damaging	Het
Zfy1	G	A	Y: 725,464 (GRCm39)	S767L	possibly damaging	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
R3847:Pibf1	UTSW	14	99,374,557 (GRCm39)	missense	possibly damaging	0.57
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
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'- GTAACTAGGCCCCAAAGCTGAC -3'
(R):5'- AGATGATGCACGACACTTACAG -3'

Sequencing Primer
(F):5'- CACAGGCTGAGAACCATTGTGTC -3'
(R):5'- CGACACTTACAGATACATATTCAGG -3'

Posted On

2019-06-26