Incidental Mutation 'IGL02548:Ggnbp2'
ID 297922
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ggnbp2
Ensembl Gene ENSMUSG00000020530
Gene Name gametogenetin binding protein 2
Synonyms DIF-3, Zfp403, D330017P12Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.878) question?
Stock # IGL02548
Quality Score
Status
Chromosome 11
Chromosomal Location 84723187-84761643 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84753112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 42 (N42K)
Ref Sequence ENSEMBL: ENSMUSP00000129794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018547] [ENSMUST00000100686] [ENSMUST00000108081] [ENSMUST00000154915] [ENSMUST00000166425] [ENSMUST00000172405] [ENSMUST00000168434] [ENSMUST00000170741]
AlphaFold Q5SV77
Predicted Effect probably benign
Transcript: ENSMUST00000018547
AA Change: N42K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000018547
Gene: ENSMUSG00000020530
AA Change: N42K

DomainStartEndE-ValueType
low complexity region 179 185 N/A INTRINSIC
coiled coil region 393 426 N/A INTRINSIC
low complexity region 570 584 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100686
AA Change: N42K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000098252
Gene: ENSMUSG00000020530
AA Change: N42K

DomainStartEndE-ValueType
coiled coil region 351 388 N/A INTRINSIC
low complexity region 508 522 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108081
AA Change: N42K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000103716
Gene: ENSMUSG00000020530
AA Change: N42K

DomainStartEndE-ValueType
coiled coil region 353 386 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134043
Predicted Effect probably benign
Transcript: ENSMUST00000154915
AA Change: N42K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000117482
Gene: ENSMUSG00000020530
AA Change: N42K

DomainStartEndE-ValueType
coiled coil region 351 384 N/A INTRINSIC
low complexity region 528 542 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165459
Predicted Effect possibly damaging
Transcript: ENSMUST00000166425
AA Change: N42K

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000172405
AA Change: N42K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000127584
Gene: ENSMUSG00000020530
AA Change: N42K

DomainStartEndE-ValueType
coiled coil region 353 386 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168434
AA Change: N42K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000130013
Gene: ENSMUSG00000020530
AA Change: N42K

DomainStartEndE-ValueType
coiled coil region 351 384 N/A INTRINSIC
low complexity region 528 542 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170741
SMART Domains Protein: ENSMUSP00000128109
Gene: ENSMUSG00000020530

DomainStartEndE-ValueType
low complexity region 99 113 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit lethality throughout fetal growth and development associated with pallor and alterations in placental labyrinth vasculature morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G A 7: 45,654,686 (GRCm39) A545V probably damaging Het
Adam29 A T 8: 56,325,902 (GRCm39) L184* probably null Het
Ap1g1 C T 8: 110,576,254 (GRCm39) A432V probably damaging Het
Atrn C T 2: 130,814,202 (GRCm39) T716I probably damaging Het
Bahd1 C A 2: 118,747,526 (GRCm39) Q382K possibly damaging Het
Barhl2 A G 5: 106,603,391 (GRCm39) V256A probably benign Het
Camta2 A G 11: 70,561,511 (GRCm39) F1113L probably damaging Het
Cdh23 G T 10: 60,485,901 (GRCm39) T38K probably benign Het
Cmtm3 T C 8: 105,071,437 (GRCm39) L111P probably damaging Het
Col27a1 T C 4: 63,236,492 (GRCm39) probably benign Het
Cyp2c29 G A 19: 39,279,291 (GRCm39) G96D possibly damaging Het
Flt1 C A 5: 147,576,058 (GRCm39) R650L probably benign Het
Fpr1 T A 17: 18,096,915 (GRCm39) E358V probably benign Het
Gldc T C 19: 30,077,299 (GRCm39) T958A probably benign Het
Gm3573 A G 14: 42,009,452 (GRCm39) probably null Het
Hspbp1 T C 7: 4,684,840 (GRCm39) probably benign Het
Jhy G T 9: 40,828,471 (GRCm39) Y478* probably null Het
Kiz A G 2: 146,712,690 (GRCm39) E118G probably damaging Het
Klhdc1 A G 12: 69,300,492 (GRCm39) Y144C probably benign Het
Lamc3 A T 2: 31,810,674 (GRCm39) Y848F probably benign Het
Mixl1 T C 1: 180,522,269 (GRCm39) E204G probably benign Het
Muc2 T A 7: 141,305,594 (GRCm39) C202S probably damaging Het
Nfatc1 T C 18: 80,741,113 (GRCm39) S282G probably damaging Het
Or2j6 T A 7: 139,980,575 (GRCm39) Y128F probably damaging Het
Or5b111 T C 19: 13,291,302 (GRCm39) M116V probably damaging Het
Or5k8 C A 16: 58,644,691 (GRCm39) C127F probably benign Het
Orc2 A T 1: 58,505,281 (GRCm39) probably benign Het
Pcdhb10 T C 18: 37,545,743 (GRCm39) I273T probably benign Het
Pdzph1 G A 17: 59,280,386 (GRCm39) T632I probably benign Het
Phf1 A G 17: 27,154,600 (GRCm39) Y225C probably damaging Het
Pramel17 T A 4: 101,692,770 (GRCm39) Y410F probably damaging Het
Prcp T C 7: 92,550,382 (GRCm39) F60L probably damaging Het
Psg21 C T 7: 18,388,961 (GRCm39) V44I possibly damaging Het
Ptgdr C T 14: 45,096,071 (GRCm39) V214M probably damaging Het
Pth1r G A 9: 110,556,748 (GRCm39) R181W probably damaging Het
Ralgapb A G 2: 158,286,585 (GRCm39) I343M probably damaging Het
Retreg1 C T 15: 25,895,204 (GRCm39) Q128* probably null Het
Rrbp1 T C 2: 143,791,679 (GRCm39) probably benign Het
Skint5 T A 4: 113,588,273 (GRCm39) M726L unknown Het
Slc6a18 T C 13: 73,818,114 (GRCm39) Y301C probably damaging Het
Slc8a3 G A 12: 81,250,930 (GRCm39) probably benign Het
Tacr3 C A 3: 134,535,232 (GRCm39) Q67K probably damaging Het
Tfrc A T 16: 32,443,640 (GRCm39) K534* probably null Het
Timp3 T A 10: 86,174,315 (GRCm39) M67K probably benign Het
Tmem120a C T 5: 135,765,628 (GRCm39) E179K probably damaging Het
Tomm40l G A 1: 171,049,216 (GRCm39) probably benign Het
Tubal3 A G 13: 3,980,554 (GRCm39) R89G probably benign Het
Wdr35 A T 12: 9,074,297 (GRCm39) N976I probably benign Het
Zfp292 T C 4: 34,805,416 (GRCm39) T2543A probably damaging Het
Zfp976 T A 7: 42,261,953 (GRCm39) H628L unknown Het
Zmynd8 A G 2: 165,675,325 (GRCm39) V301A probably damaging Het
Other mutations in Ggnbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Ggnbp2 APN 11 84,731,230 (GRCm39) missense possibly damaging 0.49
IGL02095:Ggnbp2 APN 11 84,723,954 (GRCm39) missense probably damaging 1.00
IGL02366:Ggnbp2 APN 11 84,732,427 (GRCm39) missense probably damaging 1.00
R0211:Ggnbp2 UTSW 11 84,731,139 (GRCm39) missense probably damaging 1.00
R0211:Ggnbp2 UTSW 11 84,731,139 (GRCm39) missense probably damaging 1.00
R0375:Ggnbp2 UTSW 11 84,727,200 (GRCm39) nonsense probably null
R0415:Ggnbp2 UTSW 11 84,724,051 (GRCm39) splice site probably benign
R0433:Ggnbp2 UTSW 11 84,727,246 (GRCm39) missense probably damaging 1.00
R0589:Ggnbp2 UTSW 11 84,727,277 (GRCm39) missense probably damaging 1.00
R0970:Ggnbp2 UTSW 11 84,753,138 (GRCm39) missense possibly damaging 0.83
R1413:Ggnbp2 UTSW 11 84,723,955 (GRCm39) missense probably damaging 1.00
R1912:Ggnbp2 UTSW 11 84,753,122 (GRCm39) missense probably benign 0.02
R1997:Ggnbp2 UTSW 11 84,751,387 (GRCm39) missense probably damaging 1.00
R2161:Ggnbp2 UTSW 11 84,725,259 (GRCm39) missense probably benign 0.08
R2220:Ggnbp2 UTSW 11 84,727,439 (GRCm39) missense possibly damaging 0.46
R2879:Ggnbp2 UTSW 11 84,723,797 (GRCm39) splice site probably null
R2941:Ggnbp2 UTSW 11 84,732,407 (GRCm39) missense probably damaging 1.00
R3726:Ggnbp2 UTSW 11 84,744,920 (GRCm39) missense possibly damaging 0.93
R4662:Ggnbp2 UTSW 11 84,753,072 (GRCm39) missense probably damaging 1.00
R4771:Ggnbp2 UTSW 11 84,725,314 (GRCm39) missense probably benign 0.00
R5212:Ggnbp2 UTSW 11 84,744,847 (GRCm39) intron probably benign
R5310:Ggnbp2 UTSW 11 84,760,794 (GRCm39) start codon destroyed probably null 1.00
R5479:Ggnbp2 UTSW 11 84,745,169 (GRCm39) missense probably benign
R5924:Ggnbp2 UTSW 11 84,749,363 (GRCm39) missense possibly damaging 0.61
R6212:Ggnbp2 UTSW 11 84,727,503 (GRCm39) missense possibly damaging 0.94
R6700:Ggnbp2 UTSW 11 84,730,931 (GRCm39) missense probably damaging 1.00
R6931:Ggnbp2 UTSW 11 84,723,993 (GRCm39) missense probably damaging 1.00
R7031:Ggnbp2 UTSW 11 84,751,467 (GRCm39) missense probably damaging 1.00
R7493:Ggnbp2 UTSW 11 84,744,899 (GRCm39) missense probably benign 0.21
R7694:Ggnbp2 UTSW 11 84,751,539 (GRCm39) missense possibly damaging 0.94
R7761:Ggnbp2 UTSW 11 84,730,803 (GRCm39) splice site probably null
R8257:Ggnbp2 UTSW 11 84,728,815 (GRCm39) critical splice acceptor site probably null
R8355:Ggnbp2 UTSW 11 84,728,815 (GRCm39) critical splice acceptor site probably null
R8419:Ggnbp2 UTSW 11 84,728,815 (GRCm39) critical splice acceptor site probably null
R8511:Ggnbp2 UTSW 11 84,728,815 (GRCm39) critical splice acceptor site probably null
R8512:Ggnbp2 UTSW 11 84,728,815 (GRCm39) critical splice acceptor site probably null
R8532:Ggnbp2 UTSW 11 84,728,815 (GRCm39) critical splice acceptor site probably null
R8534:Ggnbp2 UTSW 11 84,728,815 (GRCm39) critical splice acceptor site probably null
R8551:Ggnbp2 UTSW 11 84,732,351 (GRCm39) nonsense probably null
R8695:Ggnbp2 UTSW 11 84,760,767 (GRCm39) missense possibly damaging 0.81
R8705:Ggnbp2 UTSW 11 84,753,132 (GRCm39) missense possibly damaging 0.82
R8864:Ggnbp2 UTSW 11 84,730,902 (GRCm39) missense probably damaging 1.00
R9055:Ggnbp2 UTSW 11 84,732,448 (GRCm39) missense probably damaging 1.00
R9142:Ggnbp2 UTSW 11 84,730,886 (GRCm39) missense possibly damaging 0.96
R9324:Ggnbp2 UTSW 11 84,725,174 (GRCm39) missense probably damaging 1.00
R9523:Ggnbp2 UTSW 11 84,745,188 (GRCm39) missense probably benign 0.07
R9578:Ggnbp2 UTSW 11 84,744,989 (GRCm39) missense probably benign 0.22
Z1187:Ggnbp2 UTSW 11 84,727,478 (GRCm39) missense probably benign 0.04
Z1188:Ggnbp2 UTSW 11 84,727,478 (GRCm39) missense probably benign 0.04
Z1189:Ggnbp2 UTSW 11 84,727,478 (GRCm39) missense probably benign 0.04
Z1190:Ggnbp2 UTSW 11 84,727,478 (GRCm39) missense probably benign 0.04
Z1192:Ggnbp2 UTSW 11 84,727,478 (GRCm39) missense probably benign 0.04
Posted On 2015-04-16