Incidental Mutation 'IGL02322:Pibf1'
ID 288270
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 # IGL02322
Quality Score
Status
Chromosome 14
Chromosomal Location 99336860-99491929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99448419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 626 (Y626C)
Ref Sequence ENSEMBL: ENSMUSP00000022650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022650]
AlphaFold E9Q6K3
Predicted Effect probably damaging
Transcript: ENSMUST00000022650
AA Change: Y626C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064
AA Change: Y626C

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd G A 8: 106,425,268 (GRCm39) A355V probably benign Het
Adam9 A G 8: 25,445,990 (GRCm39) V801A probably damaging Het
Ankrd36 T A 11: 5,564,619 (GRCm39) V479D possibly damaging Het
Arid5a C T 1: 36,358,497 (GRCm39) P423L probably benign Het
Atp13a4 T C 16: 29,258,920 (GRCm39) I650V probably benign Het
B4gat1 C A 19: 5,089,155 (GRCm39) P51T possibly damaging Het
Caskin2 G A 11: 115,695,303 (GRCm39) T310M probably damaging Het
Ccdc121rt1 A G 1: 181,337,999 (GRCm39) S318P possibly damaging Het
Ccdc159 G T 9: 21,840,669 (GRCm39) V79L possibly damaging Het
Ccser2 A T 14: 36,631,086 (GRCm39) V18E probably damaging Het
Cct8l1 T C 5: 25,722,581 (GRCm39) V432A probably benign Het
Cdh11 A T 8: 103,374,151 (GRCm39) F529Y probably benign Het
Cep250 A G 2: 155,832,248 (GRCm39) E1370G probably damaging Het
Col22a1 C A 15: 71,694,502 (GRCm39) G717C unknown Het
Csmd2 T C 4: 128,357,520 (GRCm39) probably benign Het
Ctrb1 A C 8: 112,415,951 (GRCm39) probably null Het
Cyp2b19 T C 7: 26,461,803 (GRCm39) S208P possibly damaging Het
Dnmt3l T A 10: 77,888,572 (GRCm39) I158N possibly damaging Het
Evi5l T C 8: 4,237,236 (GRCm39) probably benign Het
Fkbpl A G 17: 34,864,298 (GRCm39) E22G probably benign Het
Flnb T A 14: 7,894,676 (GRCm38) F825I probably damaging Het
Gjb6 A T 14: 57,361,732 (GRCm39) N176K probably damaging Het
Gpc2 G T 5: 138,274,499 (GRCm39) probably null Het
H1f7 T C 15: 98,154,757 (GRCm39) T131A possibly damaging Het
Il20 C T 1: 130,837,313 (GRCm39) C104Y probably damaging Het
Mgat5 A G 1: 127,310,722 (GRCm39) N212S probably benign Het
Olfm5 C T 7: 103,803,608 (GRCm39) G210D probably damaging Het
Olig2 T C 16: 91,023,546 (GRCm39) S87P probably benign Het
Or2y15 A G 11: 49,350,784 (GRCm39) S93G probably benign Het
Or4c121 T A 2: 89,023,806 (GRCm39) T191S probably damaging Het
Osbpl7 G T 11: 96,946,950 (GRCm39) A418S probably benign Het
Otog G T 7: 45,950,881 (GRCm39) R2551L probably benign Het
Oxt A T 2: 130,418,200 (GRCm39) N24I probably damaging Het
Plekhh2 A T 17: 84,896,894 (GRCm39) K934* probably null Het
Pramel14 G A 4: 143,718,591 (GRCm39) probably benign Het
Prdm9 A T 17: 15,783,110 (GRCm39) N57K probably damaging Het
Rapsn A G 2: 90,872,251 (GRCm39) D195G possibly damaging Het
Rimbp3 T G 16: 17,029,479 (GRCm39) F968V probably benign Het
Rpgrip1 A G 14: 52,387,499 (GRCm39) N1047S possibly damaging Het
Slc35g1 C T 19: 38,389,013 (GRCm39) R107* probably null Het
Ssh2 A C 11: 77,307,239 (GRCm39) probably null Het
Tiparp C A 3: 65,439,441 (GRCm39) C70* probably null Het
Vmn2r110 A G 17: 20,794,197 (GRCm39) I824T probably damaging Het
Vmn2r78 T C 7: 86,570,687 (GRCm39) S402P probably damaging Het
Vps13c A G 9: 67,845,183 (GRCm39) E2089G probably benign Het
Xirp2 A T 2: 67,339,082 (GRCm39) H441L probably benign Het
Zdhhc3 C T 9: 122,929,542 (GRCm39) G31D probably benign Het
Zfp330 A G 8: 83,497,450 (GRCm39) L64S 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
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
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 2015-04-16