Incidental Mutation 'R0969:Pibf1'
ID 83998
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 039098-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0969 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 99336860-99491929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 99433822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 590 (Q590K)
Ref Sequence ENSEMBL: ENSMUSP00000022650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022650]
AlphaFold E9Q6K3
Predicted Effect probably benign
Transcript: ENSMUST00000022650
AA Change: Q590K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064
AA Change: Q590K

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: ENSMUST00000228598
Meta Mutation Damage Score 0.0849 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (38/39)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 C T 4: 106,617,277 (GRCm39) probably null Het
Afg1l T C 10: 42,194,617 (GRCm39) T392A probably damaging Het
Ccdc66 A G 14: 27,219,319 (GRCm39) S146P probably damaging Het
Ccl20 T A 1: 83,095,638 (GRCm39) probably benign Het
Cd2 T A 3: 101,183,371 (GRCm39) I313F probably benign Het
Cep350 A T 1: 155,816,572 (GRCm39) D374E possibly damaging Het
Cep85l T C 10: 53,157,592 (GRCm39) K602E probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Dhx8 T C 11: 101,630,526 (GRCm39) probably benign Het
Epha3 A T 16: 63,386,999 (GRCm39) L878Q probably damaging Het
F2rl2 A T 13: 95,837,461 (GRCm39) T169S probably damaging Het
Gpx3 T C 11: 54,799,852 (GRCm39) probably benign Het
Ipo5 T A 14: 121,181,937 (GRCm39) V1010D possibly damaging Het
Nipbl A T 15: 8,321,712 (GRCm39) L2647Q probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or5d18 T C 2: 87,864,592 (GRCm39) D297G probably damaging Het
Pcnt T C 10: 76,263,785 (GRCm39) E393G probably damaging Het
Pkd1l1 T C 11: 8,886,898 (GRCm39) D367G probably damaging Het
Pnpla7 T C 2: 24,940,965 (GRCm39) Y1106H probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slco5a1 C T 1: 13,060,116 (GRCm39) A202T probably damaging Het
Slco6c1 A C 1: 97,047,685 (GRCm39) I206R probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Srek1 G A 13: 103,889,011 (GRCm39) probably benign Het
St8sia6 T A 2: 13,701,680 (GRCm39) R112S probably benign Het
Suclg1 T A 6: 73,248,099 (GRCm39) H273Q probably benign Het
Taf2 T A 15: 54,894,553 (GRCm39) probably null Het
Tctn1 A G 5: 122,379,840 (GRCm39) V566A probably benign Het
Trpm4 A G 7: 44,977,331 (GRCm39) probably benign Het
Trpv3 C T 11: 73,169,764 (GRCm39) Q112* probably null Het
Ttll8 T C 15: 88,818,138 (GRCm39) Y179C probably damaging Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Upk1b A G 16: 38,607,661 (GRCm39) probably benign Het
Zfp961 T G 8: 72,722,139 (GRCm39) H217Q probably damaging 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
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
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'- TCAGGGTTGCTAAAGTCTTGCTCG -3'
(R):5'- GCTTTGCCATACACGCTAAGCTG -3'

Sequencing Primer
(F):5'- CTAAAGTCTTGCTCGTGTGGC -3'
(R):5'- ACACGCTAAGCTGTTTAGGAGTC -3'
Posted On 2013-11-08