Incidental Mutation 'IGL02159:Pax8'
ID 282362
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pax8
Ensembl Gene ENSMUSG00000026976
Gene Name paired box 8
Synonyms Pax-8
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02159
Quality Score
Status
Chromosome 2
Chromosomal Location 24310572-24365611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24330800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 211 (I211T)
Ref Sequence ENSEMBL: ENSMUSP00000134343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028355] [ENSMUST00000136228] [ENSMUST00000149294] [ENSMUST00000153601] [ENSMUST00000153535]
AlphaFold Q00288
Predicted Effect probably benign
Transcript: ENSMUST00000028355
AA Change: I211T

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000028355
Gene: ENSMUSG00000026976
AA Change: I211T

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 benign
Transcript: ENSMUST00000136228
AA Change: I212T

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000133316
Gene: ENSMUSG00000026976
AA Change: I212T

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 benign
Transcript: ENSMUST00000149294
AA Change: I211T

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000115194
Gene: ENSMUSG00000026976
AA Change: I211T

DomainStartEndE-ValueType
PAX 9 133 3.1e-93 SMART
SCOP:d1ftt__ 221 247 3e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000153601
AA Change: I211T

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134343
Gene: ENSMUSG00000026976
AA Change: I211T

DomainStartEndE-ValueType
SCOP:d1ftt__ 23 49 1e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187034
Predicted Effect probably benign
Transcript: ENSMUST00000153535
SMART Domains Protein: ENSMUSP00000120319
Gene: ENSMUSG00000026976

DomainStartEndE-ValueType
PAX 9 134 9.13e-91 SMART
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,446,527 (GRCm39) L257S probably damaging Het
Abca13 A G 11: 9,264,545 (GRCm39) S2976G probably benign Het
Afmid T C 11: 117,727,252 (GRCm39) W267R probably damaging Het
Ahi1 A G 10: 20,934,076 (GRCm39) K969R probably benign Het
Aldh1l1 A G 6: 90,571,638 (GRCm39) probably benign Het
Ank3 A G 10: 69,644,722 (GRCm39) H62R probably damaging Het
Arid2 T C 15: 96,256,793 (GRCm39) probably benign Het
Caps2 G A 10: 112,039,928 (GRCm39) V457M probably benign Het
Capza1 T C 3: 104,771,687 (GRCm39) D3G possibly damaging Het
Cav1 T A 6: 17,307,971 (GRCm39) V41E possibly damaging Het
Celf2 G T 2: 6,608,988 (GRCm39) C264* probably null Het
Clec4a2 C T 6: 123,116,285 (GRCm39) S150L probably benign Het
D7Ertd443e A T 7: 133,951,129 (GRCm39) D181E possibly damaging Het
Epyc A G 10: 97,506,493 (GRCm39) E100G probably benign Het
Hdac11 A G 6: 91,150,084 (GRCm39) I294M probably damaging Het
Hrob G A 11: 102,150,991 (GRCm39) probably null Het
Hsdl1 A G 8: 120,293,153 (GRCm39) V73A probably benign Het
Kmt2c A T 5: 25,516,341 (GRCm39) S2501T probably benign Het
Lrrc41 T A 4: 115,945,683 (GRCm39) F133I probably benign Het
Map3k19 C A 1: 127,750,907 (GRCm39) G815C probably benign Het
Muc13 C A 16: 33,619,849 (GRCm39) T199K unknown Het
Nif3l1 G T 1: 58,487,105 (GRCm39) probably null Het
Nlrp12 A T 7: 3,298,175 (GRCm39) probably benign Het
Nup205 T C 6: 35,166,113 (GRCm39) S244P probably damaging Het
Or7a37 A T 10: 78,805,735 (GRCm39) N84I probably damaging Het
Parl G A 16: 20,098,838 (GRCm39) probably benign Het
Pglyrp4 A G 3: 90,638,160 (GRCm39) E158G possibly damaging Het
Plekhm1 A G 11: 103,271,057 (GRCm39) L478P probably benign Het
Prss3b T C 6: 41,009,891 (GRCm39) T148A probably benign Het
Serpina1a C T 12: 103,820,965 (GRCm39) G338R probably damaging Het
Serpina5 T C 12: 104,071,557 (GRCm39) L388P possibly damaging Het
Sorbs1 A G 19: 40,316,040 (GRCm39) V367A probably damaging Het
Srgap2 A G 1: 131,247,404 (GRCm39) probably benign Het
Surf1 A G 2: 26,805,663 (GRCm39) L26P probably damaging Het
Taf4 A G 2: 179,580,263 (GRCm39) S486P probably benign Het
Tdrd6 A T 17: 43,939,281 (GRCm39) V589E probably damaging Het
Tuba3b T G 6: 145,565,392 (GRCm39) S287A probably benign Het
Txnrd3 G A 6: 89,646,306 (GRCm39) R295H probably damaging Het
Ubr5 G T 15: 37,991,623 (GRCm39) probably benign Het
Unc45b C T 11: 82,831,007 (GRCm39) probably benign Het
Usp32 A G 11: 84,896,628 (GRCm39) probably null Het
Utp23 G A 15: 51,745,761 (GRCm39) R87K probably benign Het
Vps8 T C 16: 21,285,234 (GRCm39) I405T possibly damaging Het
Other mutations in Pax8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Pax8 APN 2 24,333,144 (GRCm39) missense probably damaging 1.00
IGL01118:Pax8 APN 2 24,332,944 (GRCm39) splice site probably benign
IGL01141:Pax8 APN 2 24,331,162 (GRCm39) missense probably damaging 1.00
IGL01338:Pax8 APN 2 24,325,931 (GRCm39) missense possibly damaging 0.93
IGL01801:Pax8 APN 2 24,334,576 (GRCm39) critical splice donor site probably null
IGL02727:Pax8 APN 2 24,331,642 (GRCm39) missense probably damaging 0.98
IGL02887:Pax8 APN 2 24,334,627 (GRCm39) missense probably damaging 1.00
IGL03134:Pax8 UTSW 2 24,311,403 (GRCm39) unclassified probably benign
R1499:Pax8 UTSW 2 24,319,608 (GRCm39) missense possibly damaging 0.92
R1756:Pax8 UTSW 2 24,325,833 (GRCm39) missense probably damaging 0.98
R2051:Pax8 UTSW 2 24,326,520 (GRCm39) missense probably benign
R2234:Pax8 UTSW 2 24,333,114 (GRCm39) missense probably damaging 1.00
R2289:Pax8 UTSW 2 24,330,752 (GRCm39) missense probably benign 0.00
R2306:Pax8 UTSW 2 24,333,057 (GRCm39) missense probably damaging 1.00
R4328:Pax8 UTSW 2 24,331,663 (GRCm39) missense possibly damaging 0.92
R4434:Pax8 UTSW 2 24,319,621 (GRCm39) missense possibly damaging 0.93
R4592:Pax8 UTSW 2 24,333,201 (GRCm39) intron probably benign
R4610:Pax8 UTSW 2 24,311,595 (GRCm39) missense probably damaging 0.99
R4873:Pax8 UTSW 2 24,331,652 (GRCm39) missense probably benign 0.04
R4875:Pax8 UTSW 2 24,331,652 (GRCm39) missense probably benign 0.04
R5394:Pax8 UTSW 2 24,332,922 (GRCm39) intron probably benign
R5924:Pax8 UTSW 2 24,311,634 (GRCm39) missense probably damaging 0.97
R6796:Pax8 UTSW 2 24,331,098 (GRCm39) missense probably benign 0.04
R7658:Pax8 UTSW 2 24,326,523 (GRCm39) missense probably benign 0.00
R7660:Pax8 UTSW 2 24,326,573 (GRCm39) missense probably benign
R7690:Pax8 UTSW 2 24,331,682 (GRCm39) missense probably benign 0.37
R7775:Pax8 UTSW 2 24,325,913 (GRCm39) missense possibly damaging 0.93
R7793:Pax8 UTSW 2 24,319,609 (GRCm39) missense possibly damaging 0.85
R7824:Pax8 UTSW 2 24,325,913 (GRCm39) missense possibly damaging 0.93
R7859:Pax8 UTSW 2 24,311,567 (GRCm39) missense possibly damaging 0.93
R8225:Pax8 UTSW 2 24,312,983 (GRCm39) missense probably damaging 0.99
R8520:Pax8 UTSW 2 24,333,034 (GRCm39) missense probably damaging 1.00
R9651:Pax8 UTSW 2 24,331,173 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16