Incidental Mutation 'IGL03134:Pax8'
ID 453145
Institutional Source Beutler Lab
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 # IGL03134 (G1)
Quality Score 119
Status Validated
Chromosome 2
Chromosomal Location 24310572-24365611 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 24311403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028355] [ENSMUST00000149294] [ENSMUST00000153601]
AlphaFold Q00288
Predicted Effect probably benign
Transcript: ENSMUST00000028355
SMART Domains Protein: ENSMUSP00000028355
Gene: ENSMUSG00000026976

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 probably benign
Transcript: ENSMUST00000149294
SMART Domains Protein: ENSMUSP00000115194
Gene: ENSMUSG00000026976

DomainStartEndE-ValueType
PAX 9 133 3.1e-93 SMART
SCOP:d1ftt__ 221 247 3e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149860
Predicted Effect probably benign
Transcript: ENSMUST00000153601
SMART Domains Protein: ENSMUSP00000134343
Gene: ENSMUSG00000026976

DomainStartEndE-ValueType
SCOP:d1ftt__ 23 49 1e-4 SMART
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (66/66)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414J04Rik A T 11: 21,457,249 (GRCm39) noncoding transcript Het
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Afdn C T 17: 14,066,548 (GRCm39) T580I probably benign Het
Ankfy1 G T 11: 72,603,011 (GRCm39) L13F probably damaging Het
Arhgap12 T C 18: 6,111,936 (GRCm39) T143A probably benign Het
Arsi T G 18: 61,050,424 (GRCm39) W436G probably damaging Het
Bcl2l10 C T 9: 75,255,480 (GRCm39) T99M probably damaging Het
Cacna1a A G 8: 85,285,716 (GRCm39) Q740R probably damaging Het
Cacna1g A G 11: 94,350,651 (GRCm39) F398S probably damaging Het
Ccrl2 A C 9: 110,884,725 (GRCm39) Y258D probably damaging Het
Cemip T A 7: 83,648,445 (GRCm39) D38V probably damaging Het
Chd6 C G 2: 160,807,403 (GRCm39) C1937S possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Col1a2 T G 6: 4,521,387 (GRCm39) probably benign Het
Col4a1 T C 8: 11,290,069 (GRCm39) probably null Het
Cops7b T A 1: 86,520,056 (GRCm39) L69Q probably damaging Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Ddx3y T A Y: 1,278,949 (GRCm39) D163V possibly damaging Het
Dnajc19 A G 3: 34,132,884 (GRCm39) probably benign Het
Fhip2b T C 14: 70,826,149 (GRCm39) T288A possibly damaging Het
G2e3 T A 12: 51,410,813 (GRCm39) probably benign Het
Gimap7 A G 6: 48,700,435 (GRCm39) N7S probably benign Het
Gkap1 G A 13: 58,411,746 (GRCm39) probably benign Het
Gm3404 G A 5: 146,463,706 (GRCm39) R117Q probably benign Het
Herc1 T TN 9: 66,341,345 (GRCm39) probably benign Homo
Homer3 T C 8: 70,738,985 (GRCm39) Y115H probably benign Het
Ighv10-1 T A 12: 114,442,689 (GRCm39) M99L probably benign Het
Kdm2b A C 5: 123,070,737 (GRCm39) S398R probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mettl25 G A 10: 105,661,888 (GRCm39) Q361* probably null Het
Mkrn2 T A 6: 115,590,496 (GRCm39) I284N probably damaging Het
Mmp14 T A 14: 54,676,563 (GRCm39) N369K probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Myo6 C G 9: 80,199,749 (GRCm39) N1019K probably damaging Het
Myo7a C T 7: 97,705,974 (GRCm39) V1857I probably damaging Het
Nhsl3 A G 4: 129,116,280 (GRCm39) S783P possibly damaging Het
Nktr T C 9: 121,575,532 (GRCm39) S347P probably damaging Het
Nup210 T G 6: 91,007,172 (GRCm39) D548A probably damaging Het
Nup210l A G 3: 90,098,194 (GRCm39) Y1382C possibly damaging Het
Or14c41 G A 7: 86,235,220 (GRCm39) V246M probably damaging Het
Or1e23 T A 11: 73,407,941 (GRCm39) Y28F probably benign Het
Pcdhgb7 A G 18: 37,884,935 (GRCm39) Y35C probably damaging Het
Pld1 A T 3: 28,083,316 (GRCm39) R145S probably benign Het
Pom121 G A 5: 135,410,935 (GRCm39) P741S unknown Het
Rarb T C 14: 16,436,910 (GRCm38) N204D probably damaging Het
Sdc3 A G 4: 130,548,815 (GRCm39) E337G probably benign Het
Serpina9 T C 12: 103,967,696 (GRCm39) K233R probably null Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Sspo T A 6: 48,427,999 (GRCm39) M159K probably benign Het
Stxbp4 C A 11: 90,498,010 (GRCm39) R96S probably damaging Het
Tg A C 15: 66,612,567 (GRCm39) E375A probably damaging Het
Tmem176b A G 6: 48,815,287 (GRCm39) V2A probably benign Het
Toporsl G A 4: 52,610,281 (GRCm39) C58Y probably damaging Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Vav3 T C 3: 109,470,410 (GRCm39) probably benign Het
Zfp180 T A 7: 23,804,170 (GRCm39) D196E possibly damaging Het
Zfp407 C T 18: 84,228,080 (GRCm39) S1843N probably 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
IGL02159:Pax8 APN 2 24,330,800 (GRCm39) missense possibly damaging 0.56
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
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
Predicted Primers PCR Primer
(F):5'- GTTGTCTAGATGAAGACCAAACAGG -3'
(R):5'- TGCCACAGCCTTTGACCATC -3'

Sequencing Primer
(F):5'- TGGCCCTGTACACCCTCAG -3'
(R):5'- ACAGCCTTTGACCATCTGTAG -3'
Posted On 2017-01-30