Incidental Mutation 'IGL01141:Pax8'
ID50619
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pax8
Ensembl Gene ENSMUSG00000026976
Gene Namepaired box 8
SynonymsPax-8
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01141
Quality Score
Status
Chromosome2
Chromosomal Location24420560-24475599 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24441150 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 178 (S178P)
Ref Sequence ENSEMBL: ENSMUSP00000115194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028355] [ENSMUST00000136228] [ENSMUST00000149294] [ENSMUST00000153535] [ENSMUST00000153601]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028355
AA Change: S178P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028355
Gene: ENSMUSG00000026976
AA Change: S178P

DomainStartEndE-ValueType
PAX 9 133 3.1e-93 SMART
SCOP:d1ftt__ 221 247 8e-5 SMART
low complexity region 311 328 N/A INTRINSIC
Pfam:Pax2_C 344 456 2.3e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135829
Predicted Effect probably damaging
Transcript: ENSMUST00000136228
AA Change: S179P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133316
Gene: ENSMUSG00000026976
AA Change: S179P

DomainStartEndE-ValueType
PAX 9 134 9.13e-91 SMART
SCOP:d1fjla_ 221 248 8e-5 SMART
low complexity region 312 329 N/A INTRINSIC
Pfam:Pax2_C 342 404 1.2e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149294
AA Change: S178P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115194
Gene: ENSMUSG00000026976
AA Change: S178P

DomainStartEndE-ValueType
PAX 9 133 3.1e-93 SMART
SCOP:d1ftt__ 221 247 3e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153535
SMART Domains Protein: ENSMUSP00000120319
Gene: ENSMUSG00000026976

DomainStartEndE-ValueType
PAX 9 134 9.13e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153601
AA Change: S178P

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000134343
Gene: ENSMUSG00000026976
AA Change: S178P

DomainStartEndE-ValueType
SCOP:d1ftt__ 23 49 1e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187034
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of a family of transcription factors that contain a characteristic N-terminal paired DNA-binding domain. The encoded protein is important for proper differentiation of the thyroid and the kidney. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygotes for targeted mutations exhibit severe hypothyroidism due to thyroid follicular cell aplasia, male infertility, deafness, ataxia, growth retardation, tiny spleens, impaired ossification of long bones and maturation of the small intestine, fatty livers, and lethality around weaning age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,937,730 D1447E probably damaging Het
Atp2a3 T C 11: 72,982,665 I788T probably damaging Het
Axin1 G A 17: 26,190,041 E672K probably damaging Het
Ccno A G 13: 112,989,027 D175G probably damaging Het
Cep83 C A 10: 94,788,757 T632K probably benign Het
Ckmt1 A T 2: 121,362,993 I345F probably benign Het
Cntnap1 G A 11: 101,178,807 probably benign Het
Edem2 A G 2: 155,709,028 Y340H probably benign Het
Erich3 A G 3: 154,714,016 K249R probably benign Het
Fndc9 T C 11: 46,237,699 I15T probably benign Het
Gm4758 A G 16: 36,308,064 E7G probably benign Het
Grip2 G T 6: 91,782,897 Q300K probably benign Het
Herc2 T C 7: 56,212,841 V4050A possibly damaging Het
Jup A T 11: 100,386,249 D44E probably benign Het
Lingo3 G T 10: 80,835,313 P261Q probably damaging Het
Lrrfip2 C T 9: 111,219,715 R311W probably damaging Het
Mansc1 C A 6: 134,621,785 L56F probably benign Het
Map1b A G 13: 99,434,761 I484T probably damaging Het
Mpeg1 T A 19: 12,462,785 F536I probably damaging Het
Mrgprb1 T G 7: 48,448,027 T46P probably benign Het
Mug1 A G 6: 121,870,499 N612S probably benign Het
Olfr477 T C 7: 107,990,551 F62S probably damaging Het
Olfr805 T A 10: 129,722,945 I200L probably benign Het
Peak1 A G 9: 56,258,527 F706L probably benign Het
Prkdc A G 16: 15,726,704 T1853A probably damaging Het
Reln A C 5: 21,969,033 F2024C probably damaging Het
Reln G T 5: 21,919,069 P2813Q probably damaging Het
Riox1 A G 12: 83,951,794 Q368R probably damaging Het
Rspry1 T C 8: 94,649,855 V335A probably benign Het
Scn3a T C 2: 65,495,113 N1020S possibly damaging Het
Scyl2 A G 10: 89,640,635 V876A probably benign Het
Sdhaf3 T A 6: 6,956,141 F39I probably damaging Het
Sfxn4 T C 19: 60,851,014 E202G possibly damaging Het
Slc1a4 A T 11: 20,308,644 probably benign Het
Sln A G 9: 53,853,500 I10V probably benign Het
Ssh2 A G 11: 77,449,726 E568G probably damaging Het
Supt7l G A 5: 31,518,435 P270S probably benign Het
Tanc2 A G 11: 105,886,474 probably benign Het
Tatdn1 A T 15: 58,909,567 probably benign Het
Tfip11 C T 5: 112,329,503 P117L possibly damaging Het
Vpreb1 T C 16: 16,869,087 M9V probably benign Het
Other mutations in Pax8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Pax8 APN 2 24443132 missense probably damaging 1.00
IGL01118:Pax8 APN 2 24442932 splice site probably benign
IGL01338:Pax8 APN 2 24435919 missense possibly damaging 0.93
IGL01801:Pax8 APN 2 24444564 critical splice donor site probably null
IGL02159:Pax8 APN 2 24440788 missense possibly damaging 0.56
IGL02727:Pax8 APN 2 24441630 missense probably damaging 0.98
IGL02887:Pax8 APN 2 24444615 missense probably damaging 1.00
IGL03134:Pax8 UTSW 2 24421391 unclassified probably benign
R1499:Pax8 UTSW 2 24429596 missense possibly damaging 0.92
R1756:Pax8 UTSW 2 24435821 missense probably damaging 0.98
R2051:Pax8 UTSW 2 24436508 missense probably benign
R2234:Pax8 UTSW 2 24443102 missense probably damaging 1.00
R2289:Pax8 UTSW 2 24440740 missense probably benign 0.00
R2306:Pax8 UTSW 2 24443045 missense probably damaging 1.00
R4328:Pax8 UTSW 2 24441651 missense possibly damaging 0.92
R4434:Pax8 UTSW 2 24429609 missense possibly damaging 0.93
R4592:Pax8 UTSW 2 24443189 intron probably benign
R4610:Pax8 UTSW 2 24421583 missense probably damaging 0.99
R4873:Pax8 UTSW 2 24441640 missense probably benign 0.04
R4875:Pax8 UTSW 2 24441640 missense probably benign 0.04
R5394:Pax8 UTSW 2 24442910 intron probably benign
R5924:Pax8 UTSW 2 24421622 missense probably damaging 0.97
R6796:Pax8 UTSW 2 24441086 missense probably benign 0.04
R7658:Pax8 UTSW 2 24436511 missense probably benign 0.00
R7660:Pax8 UTSW 2 24436561 missense probably benign
R7690:Pax8 UTSW 2 24441670 missense probably benign 0.37
R7775:Pax8 UTSW 2 24435901 missense possibly damaging 0.93
R7793:Pax8 UTSW 2 24429597 missense possibly damaging 0.85
R7824:Pax8 UTSW 2 24435901 missense possibly damaging 0.93
R7859:Pax8 UTSW 2 24421555 missense possibly damaging 0.93
R7942:Pax8 UTSW 2 24421555 missense possibly damaging 0.93
R8225:Pax8 UTSW 2 24422971 missense probably damaging 0.99
Posted On2013-06-21