Incidental Mutation 'IGL03269:Pibf1'
ID 415191
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pibf1
Ensembl Gene ENSMUSG00000022064
Gene Name progesterone immunomodulatory binding factor 1
Synonyms 4930513H15Rik, 4933438D16Rik, 1700017E21Rik, D14Ertd581e, 4933439E17Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03269
Quality Score
Status
Chromosome 14
Chromosomal Location 99336860-99491929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 99425171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 553 (A553T)
Ref Sequence ENSEMBL: ENSMUSP00000022650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022650]
AlphaFold E9Q6K3
Predicted Effect probably damaging
Transcript: ENSMUST00000022650
AA Change: A553T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064
AA Change: A553T

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 T A 2: 26,998,367 (GRCm39) C930* probably null Het
Ankar A T 1: 72,704,360 (GRCm39) V854E probably damaging Het
Ceacam3 T A 7: 16,895,767 (GRCm39) L579Q probably damaging Het
Clip2 G T 5: 134,545,748 (GRCm39) H314Q probably damaging Het
Fbxo28 A G 1: 182,144,583 (GRCm39) V327A possibly damaging Het
Gdap1 T A 1: 17,231,729 (GRCm39) F358Y probably benign Het
Ift70a2 T C 2: 75,808,479 (GRCm39) D11G possibly damaging Het
Ighv1-18 T C 12: 114,646,466 (GRCm39) Y46C probably damaging Het
Il1rl2 T A 1: 40,404,472 (GRCm39) F531Y probably damaging Het
Irf6 A G 1: 192,844,906 (GRCm39) probably benign Het
Ncoa6 T C 2: 155,248,409 (GRCm39) T1632A probably damaging Het
Odad3 A G 9: 21,909,339 (GRCm39) probably null Het
Or4l1 T A 14: 50,166,165 (GRCm39) T279S probably damaging Het
Or5b3 T A 19: 13,388,792 (GRCm39) N286K probably damaging Het
Or8b43 A G 9: 38,360,197 (GRCm39) T10A probably benign Het
Osgepl1 C A 1: 53,360,271 (GRCm39) Y332* probably null Het
Prpf38b A G 3: 108,812,557 (GRCm39) F219L probably benign Het
Pwp1 C A 10: 85,718,768 (GRCm39) Q312K probably damaging Het
Rnf17 T C 14: 56,665,403 (GRCm39) V185A possibly damaging Het
Serpina3k T C 12: 104,306,780 (GRCm39) I4T possibly damaging Het
Slc33a1 A G 3: 63,871,178 (GRCm39) V145A probably damaging Het
Slco3a1 T C 7: 73,968,280 (GRCm39) D480G possibly damaging Het
Tdpoz4 G A 3: 93,704,144 (GRCm39) C147Y probably damaging Het
Tlr4 C A 4: 66,759,033 (GRCm39) P609T probably damaging Het
Trgv4 T A 13: 19,369,622 (GRCm39) I122K probably damaging Het
Unc79 A G 12: 103,054,936 (GRCm39) K927E probably damaging Het
Vmn1r71 G A 7: 10,482,571 (GRCm39) T39I possibly damaging Het
Vmn2r9 A G 5: 108,995,820 (GRCm39) L276P probably damaging Het
Zfp335 C A 2: 164,742,274 (GRCm39) R570L 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
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
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
Posted On 2016-08-02