Incidental Mutation 'IGL02887:Pax8'
ID363814
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 #IGL02887
Quality Score
Status
Chromosome2
Chromosomal Location24420560-24475599 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24444615 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 48 (S48P)
Ref Sequence ENSEMBL: ENSMUSP00000134343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028355] [ENSMUST00000136228] [ENSMUST00000149294] [ENSMUST00000153535] [ENSMUST00000153601]
Predicted Effect probably damaging
Transcript: ENSMUST00000028355
AA Change: S48P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028355
Gene: ENSMUSG00000026976
AA Change: S48P

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: S48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133316
Gene: ENSMUSG00000026976
AA Change: S48P

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: S48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115194
Gene: ENSMUSG00000026976
AA Change: S48P

DomainStartEndE-ValueType
PAX 9 133 3.1e-93 SMART
SCOP:d1ftt__ 221 247 3e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000153535
AA Change: S48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120319
Gene: ENSMUSG00000026976
AA Change: S48P

DomainStartEndE-ValueType
PAX 9 134 9.13e-91 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000153601
AA Change: S48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134343
Gene: ENSMUSG00000026976
AA Change: S48P

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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,258,885 Y69H probably damaging Het
Afap1l2 A T 19: 56,920,563 S310R probably damaging Het
Aldh7a1 A G 18: 56,542,216 probably benign Het
Anxa8 T A 14: 34,096,524 probably null Het
Ap1ar T C 3: 127,808,543 E282G probably damaging Het
Arl6ip6 T G 2: 53,202,927 S155A probably benign Het
Armc9 T C 1: 86,164,835 F107S probably damaging Het
Ash1l C A 3: 88,984,181 D1122E probably benign Het
Atp2b4 T A 1: 133,728,774 I713F probably damaging Het
BC005624 A C 2: 30,973,305 probably benign Het
Calcrl T C 2: 84,339,242 D365G probably benign Het
Ccdc110 A G 8: 45,943,184 N704S probably benign Het
Ccr10 G T 11: 101,174,666 L13I probably benign Het
Cfap52 A G 11: 67,953,515 Y125H probably damaging Het
Cnr2 C A 4: 135,917,625 T338K possibly damaging Het
Cntn2 T A 1: 132,516,570 D935V probably damaging Het
Cog7 T C 7: 121,943,844 K448R possibly damaging Het
Csnk1g2 G A 10: 80,638,535 D197N probably damaging Het
Cyp2e1 T A 7: 140,763,911 S21T probably damaging Het
Dcaf11 T C 14: 55,564,135 F187L probably damaging Het
Dmd T A X: 83,878,504 F1460Y probably benign Het
Dnah11 G A 12: 117,911,040 A4030V probably damaging Het
Dnah7a A G 1: 53,522,360 V2046A possibly damaging Het
Dnajc6 T C 4: 101,639,300 I820T probably damaging Het
Dsel T C 1: 111,860,732 D691G possibly damaging Het
Fbp1 T A 13: 62,869,080 M203L probably benign Het
Fndc1 T C 17: 7,773,638 T409A unknown Het
Golgb1 T G 16: 36,925,849 L2930R probably damaging Het
Htr2a A G 14: 74,645,143 T190A probably benign Het
Klra4 C T 6: 130,044,070 C254Y probably damaging Het
Large1 A T 8: 73,132,039 V67E probably benign Het
Lins1 T C 7: 66,714,183 S609P probably damaging Het
Magi3 T C 3: 104,095,157 E156G probably damaging Het
Mdh1b A G 1: 63,715,364 probably benign Het
Mfsd6 T C 1: 52,708,878 D276G probably benign Het
Myh9 T A 15: 77,796,020 K185* probably null Het
Myof T C 19: 37,920,779 probably null Het
Naip2 T G 13: 100,161,512 Y672S possibly damaging Het
Nbeal1 A G 1: 60,287,444 probably benign Het
Nbeal2 T A 9: 110,628,276 H2273L probably damaging Het
Neb T C 2: 52,200,721 K1346E possibly damaging Het
Nfatc2 T C 2: 168,504,450 D908G probably damaging Het
Nlgn2 T C 11: 69,827,254 N375S probably benign Het
Nova1 G T 12: 46,720,722 Q139K unknown Het
Olfr328 A G 11: 58,552,161 L26P probably damaging Het
Olfr775 T A 10: 129,250,925 Y130* probably null Het
Olfr978 T A 9: 39,993,813 M1K probably null Het
Opa3 A T 7: 19,228,582 Q47L probably damaging Het
Pacs1 A T 19: 5,135,110 probably benign Het
Pappa2 T A 1: 158,782,259 H1544L probably damaging Het
Pdilt T C 7: 119,498,049 N70S possibly damaging Het
Poldip3 T C 15: 83,129,268 probably benign Het
Ppp6r1 T A 7: 4,642,212 I80F probably damaging Het
Pycr2 T A 1: 180,904,739 probably null Het
Rapgef2 C T 3: 79,068,880 probably benign Het
Rbm44 T A 1: 91,153,180 D363E probably damaging Het
Rnf213 A T 11: 119,427,510 I1046F probably damaging Het
Ryr2 A G 13: 11,591,269 S4476P probably damaging Het
Scara5 G A 14: 65,762,829 D483N unknown Het
Scmh1 T A 4: 120,468,389 F101Y probably damaging Het
Sgo2a T A 1: 58,016,352 V565E probably damaging Het
Simc1 T C 13: 54,525,258 M473T probably benign Het
Skint6 T A 4: 113,238,184 R93* probably null Het
Skint7 T C 4: 111,982,178 V223A possibly damaging Het
Slc25a2 T C 18: 37,637,886 I197V probably benign Het
Slit2 A G 5: 48,217,474 T361A probably benign Het
Sugp1 G A 8: 70,070,126 G492D probably damaging Het
Svep1 C T 4: 58,145,301 G388D probably damaging Het
Tbpl2 G T 2: 24,093,876 A183E probably damaging Het
Tcerg1l G T 7: 138,229,890 P453T probably damaging Het
Tdpoz2 T C 3: 93,651,739 T309A probably benign Het
Thbs4 T A 13: 92,790,798 Y61F probably benign Het
Tmem117 C A 15: 95,094,775 P439T probably damaging Het
Tmem151a A G 19: 5,082,965 V71A probably benign Het
Tmem268 G T 4: 63,568,454 probably benign Het
Tmem43 T A 6: 91,477,374 Y48N possibly damaging Het
Tmigd1 T C 11: 76,913,986 V217A probably benign Het
Tmprss11g A T 5: 86,497,329 probably benign Het
Tsn T C 1: 118,309,821 I38V probably benign Het
Ttc41 A T 10: 86,733,654 Y632F probably damaging Het
Vmn2r117 C T 17: 23,475,578 probably benign Het
Vmn2r12 A T 5: 109,090,485 I463N probably benign Het
Wdsub1 T A 2: 59,852,832 N466I probably damaging Het
Zdhhc21 A T 4: 82,844,190 I56N probably benign Het
Zfand4 A G 6: 116,273,656 T16A possibly damaging Het
Zmym4 T C 4: 126,948,475 E15G probably damaging 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
IGL01141:Pax8 APN 2 24441150 missense probably damaging 1.00
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
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
Posted On2015-12-18