Incidental Mutation 'IGL00972:Pibf1'
ID 28987
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 # IGL00972
Quality Score
Status
Chromosome 14
Chromosomal Location 99336860-99491929 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 99416885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 486 (L486*)
Ref Sequence ENSEMBL: ENSMUSP00000022650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022650]
AlphaFold E9Q6K3
Predicted Effect probably null
Transcript: ENSMUST00000022650
AA Change: L486*
SMART Domains Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064
AA Change: L486*

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,504,484 (GRCm39) F23L probably damaging Het
Abcf3 A T 16: 20,370,434 (GRCm39) M320L probably damaging Het
Adam4 A T 12: 81,467,423 (GRCm39) H399Q probably damaging Het
Ank1 A G 8: 23,631,660 (GRCm39) K140E probably damaging Het
Atg2a G A 19: 6,304,629 (GRCm39) C1162Y probably damaging Het
Atp2b1 T A 10: 98,850,906 (GRCm39) I34N probably damaging Het
Bin1 A T 18: 32,557,887 (GRCm39) E260V probably benign Het
Birc2 G A 9: 7,833,716 (GRCm39) S255L probably benign Het
Cdc42bpa A G 1: 179,902,249 (GRCm39) Q502R probably benign Het
Cep170 A G 1: 176,563,262 (GRCm39) V1584A probably benign Het
Commd3 A T 2: 18,679,476 (GRCm39) R120S probably benign Het
Cyp39a1 A T 17: 44,012,434 (GRCm39) I304L probably benign Het
Cyp3a44 A T 5: 145,716,534 (GRCm39) M352K possibly damaging Het
Dna2 T C 10: 62,786,602 (GRCm39) Y117H probably benign Het
Dnah6 A G 6: 73,060,140 (GRCm39) probably benign Het
Dsc1 G A 18: 20,221,420 (GRCm39) P685L probably benign Het
Efna5 T A 17: 62,920,374 (GRCm39) I168L possibly damaging Het
Ephx1 A G 1: 180,827,365 (GRCm39) F96S probably benign Het
Fig4 A T 10: 41,127,784 (GRCm39) I560K probably damaging Het
Fktn T A 4: 53,734,992 (GRCm39) I210N probably damaging Het
Fmnl1 T C 11: 103,071,781 (GRCm39) V96A probably damaging Het
Gabra1 T G 11: 42,024,453 (GRCm39) E407D probably benign Het
Gm5277 A T 3: 78,799,593 (GRCm39) noncoding transcript Het
H2-M10.5 A T 17: 37,084,227 (GRCm39) E63V possibly damaging Het
Icam5 T A 9: 20,945,993 (GRCm39) V275E probably damaging Het
Kel G A 6: 41,665,000 (GRCm39) A588V possibly damaging Het
Klra5 T A 6: 129,883,568 (GRCm39) E96D probably damaging Het
Limd1 C T 9: 123,309,141 (GRCm39) T280I probably benign Het
Mul1 C A 4: 138,165,628 (GRCm39) S95* probably null Het
Nlrp4a T C 7: 26,156,473 (GRCm39) S733P probably benign Het
Ntn1 T A 11: 68,104,098 (GRCm39) I517F possibly damaging Het
Ntrk3 T A 7: 77,897,070 (GRCm39) M656L possibly damaging Het
Oacyl T G 18: 65,858,572 (GRCm39) L226R possibly damaging Het
Or1ad6 A T 11: 50,859,946 (GRCm39) M34L probably benign Het
Or4f61 A T 2: 111,922,439 (GRCm39) N202K probably damaging Het
Or5ac17 A G 16: 59,036,829 (GRCm39) I49T probably damaging Het
Pla2g4c A G 7: 13,074,583 (GRCm39) Y253C probably benign Het
Rims3 C A 4: 120,748,583 (GRCm39) A268E probably benign Het
Rpl12 T C 2: 32,853,759 (GRCm39) I129T probably benign Het
Rsl1 A T 13: 67,329,862 (GRCm39) K103N probably benign Het
Scn11a A T 9: 119,623,004 (GRCm39) W612R probably benign Het
Sdk2 G A 11: 113,745,210 (GRCm39) T695M possibly damaging Het
Slc17a1 T A 13: 24,062,437 (GRCm39) probably benign Het
Stam A T 2: 14,120,779 (GRCm39) probably benign Het
Tacr3 T G 3: 134,638,116 (GRCm39) N424K probably benign Het
Tas1r2 C T 4: 139,387,347 (GRCm39) R240W probably damaging Het
Tle1 T C 4: 72,040,637 (GRCm39) R648G probably damaging Het
Tmem92 T C 11: 94,673,254 (GRCm39) D3G possibly damaging Het
Trip11 T C 12: 101,860,596 (GRCm39) I250V probably null Het
Tspan8 C T 10: 115,680,044 (GRCm39) probably benign Het
Vmn1r128 A G 7: 21,084,001 (GRCm39) E235G probably benign Het
Vmn1r220 A G 13: 23,368,558 (GRCm39) L46P probably damaging Het
Vmn2r9 T C 5: 108,996,903 (GRCm39) E122G probably benign Het
Zfp27 A T 7: 29,594,383 (GRCm39) N527K probably damaging Het
Other mutations in Pibf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-04-17