Incidental Mutation 'R6088:Pibf1'
ID 486111
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 044245-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6088 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 99336860-99491929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99416794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 456 (F456I)
Ref Sequence ENSEMBL: ENSMUSP00000022650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022650]
AlphaFold E9Q6K3
Predicted Effect probably benign
Transcript: ENSMUST00000022650
AA Change: F456I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064
AA Change: F456I

DomainStartEndE-ValueType
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: ENSMUST00000226935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228598
Meta Mutation Damage Score 0.0620 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 G T 18: 59,035,174 (GRCm39) V360F probably damaging Het
Ankrd17 C T 5: 90,401,547 (GRCm39) E1605K possibly damaging Het
Arid4a A G 12: 71,069,010 (GRCm39) D54G probably damaging Het
Baz2a TCTCCTC TCTC 10: 127,950,511 (GRCm39) probably benign Het
Bltp3a G A 17: 28,103,579 (GRCm39) probably null Het
Card6 A T 15: 5,134,501 (GRCm39) V234E possibly damaging Het
Cd1d1 G T 3: 86,906,009 (GRCm39) Q89K probably benign Het
Ciita G A 16: 10,329,795 (GRCm39) R693K probably damaging Het
Cox7a2l G T 17: 83,811,401 (GRCm39) L77I probably benign Het
Crybg2 A T 4: 133,803,101 (GRCm39) probably null Het
Cts8 T C 13: 61,401,780 (GRCm39) N39S probably benign Het
Def8 G T 8: 124,186,787 (GRCm39) E456* probably null Het
Dld A G 12: 31,390,988 (GRCm39) F153L probably benign Het
Elf1 C T 14: 79,804,701 (GRCm39) T122I probably benign Het
Emilin2 T C 17: 71,562,119 (GRCm39) N961S probably benign Het
Esp24 A G 17: 39,350,901 (GRCm39) I34V probably benign Het
Fam184b C A 5: 45,741,354 (GRCm39) K292N probably damaging Het
Gabrg3 T A 7: 56,634,826 (GRCm39) N119I probably damaging Het
Gucy1b1 T C 3: 81,942,187 (GRCm39) H524R probably damaging Het
Kcp A T 6: 29,502,631 (GRCm39) S205T probably benign Het
Klb C T 5: 65,506,356 (GRCm39) T201M probably benign Het
Lamp3 A T 16: 19,492,148 (GRCm39) F365L probably damaging Het
Mad1l1 T A 5: 140,179,718 (GRCm39) H390L probably benign Het
Mlxipl T C 5: 135,162,884 (GRCm39) Y711H possibly damaging Het
Myo5b T A 18: 74,853,969 (GRCm39) L1196Q possibly damaging Het
Ndufb8 A G 19: 44,543,464 (GRCm39) S70P probably benign Het
Neb T C 2: 52,099,354 (GRCm39) D4832G probably damaging Het
Niban2 T C 2: 32,813,135 (GRCm39) V540A probably damaging Het
Nr5a1 T C 2: 38,592,007 (GRCm39) D322G probably benign Het
Or1e1d-ps1 A T 11: 73,819,649 (GRCm39) T273S probably benign Het
Or5ak20 T A 2: 85,183,698 (GRCm39) S191C probably damaging Het
Oscar G A 7: 3,614,311 (GRCm39) P143S probably benign Het
Oxa1l T A 14: 54,605,151 (GRCm39) probably null Het
Pafah2 A G 4: 134,140,692 (GRCm39) I221V probably benign Het
Pla2g4d C T 2: 120,100,487 (GRCm39) G615D probably damaging Het
Plekhg2 C T 7: 28,060,438 (GRCm39) V964I probably benign Het
Ppip5k1 C A 2: 121,167,944 (GRCm39) V770L probably benign Het
Ppl A T 16: 4,922,852 (GRCm39) L213Q possibly damaging Het
Ptprf G A 4: 118,067,952 (GRCm39) T1785I possibly damaging Het
Pycr2 G A 1: 180,733,801 (GRCm39) G131E probably damaging Het
Rbpj C T 5: 53,808,710 (GRCm39) probably null Het
Rcc1 G T 4: 132,060,153 (GRCm39) D430E probably benign Het
Rhbdf1 A G 11: 32,162,007 (GRCm39) V525A possibly damaging Het
Samd7 G A 3: 30,810,632 (GRCm39) M216I probably benign Het
Ska3 A T 14: 58,054,151 (GRCm39) D266E probably benign Het
Slc1a7 G A 4: 107,869,641 (GRCm39) V569M probably damaging Het
Slc26a1 C T 5: 108,821,872 (GRCm39) E6K possibly damaging Het
Slc4a4 T A 5: 89,345,563 (GRCm39) V741E probably benign Het
St6galnac3 C T 3: 152,912,352 (GRCm39) G164S probably damaging Het
Tgs1 T A 4: 3,595,383 (GRCm39) N517K probably benign Het
Tns4 A G 11: 98,964,546 (GRCm39) S522P probably damaging Het
Trpm1 A T 7: 63,917,724 (GRCm39) M355L probably damaging Het
Trpm8 G A 1: 88,234,400 (GRCm39) probably benign Het
V1ra8 T C 6: 90,180,082 (GRCm39) F95S probably damaging Het
Zfp521 A C 18: 13,979,166 (GRCm39) S416A possibly damaging Het
Zfp574 T A 7: 24,779,764 (GRCm39) V262E probably benign Het
Zfp740 T A 15: 102,117,243 (GRCm39) I77N probably damaging Het
Zscan18 A T 7: 12,509,125 (GRCm39) probably benign Het
Other mutations in Pibf1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGCAATCGTAACATGATGGGG -3'
(R):5'- CCACTGGACCTAGCTTTAGTTC -3'

Sequencing Primer
(F):5'- TCGTAACATGATGGGGTAGAAAGTG -3'
(R):5'- GTCCTCTAGGAGAAACAAGGTCTAC -3'
Posted On 2017-08-16