Incidental Mutation 'R6897:Pitx1'
ID 538416
Institutional Source Beutler Lab
Gene Symbol Pitx1
Ensembl Gene ENSMUSG00000021506
Gene Name paired-like homeodomain transcription factor 1
Synonyms Ptx1, P-OTX, Potx, Bft
MMRRC Submission 044991-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.830) question?
Stock # R6897 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 55972864-55984005 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55976335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 108 (T108M)
Ref Sequence ENSEMBL: ENSMUSP00000134609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021968] [ENSMUST00000173618]
AlphaFold P70314
Predicted Effect probably damaging
Transcript: ENSMUST00000021968
AA Change: T108M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021968
Gene: ENSMUSG00000021506
AA Change: T108M

DomainStartEndE-ValueType
low complexity region 10 24 N/A INTRINSIC
low complexity region 70 81 N/A INTRINSIC
HOX 90 152 9.19e-26 SMART
low complexity region 205 232 N/A INTRINSIC
Pfam:OAR 277 295 7.3e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173618
AA Change: T108M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134609
Gene: ENSMUSG00000021506
AA Change: T108M

DomainStartEndE-ValueType
low complexity region 10 24 N/A INTRINSIC
low complexity region 70 81 N/A INTRINSIC
HOX 90 124 1.3e-1 SMART
Meta Mutation Damage Score 0.3287 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 97% (72/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants have defects of hindlimbs, pelvis, mandible and submandibular gland, and decreased numbers of anterior pituitary cell types. Some mutants die in utero, but most die at birth, probably as a consequence of cleft palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,889,534 (GRCm39) I28V possibly damaging Het
Adamts2 A T 11: 50,627,991 (GRCm39) probably null Het
Adgrg1 T C 8: 95,729,126 (GRCm39) F17L probably benign Het
Aldob A G 4: 49,539,789 (GRCm39) L183P probably damaging Het
Alg5 T C 3: 54,656,063 (GRCm39) C270R probably benign Het
Anxa4 T A 6: 86,720,160 (GRCm39) probably null Het
Armc2 C A 10: 41,869,225 (GRCm39) probably null Het
Atrnl1 A G 19: 58,030,800 (GRCm39) N1314S probably benign Het
Bbs7 T A 3: 36,652,460 (GRCm39) E331V probably benign Het
Bmper T A 9: 23,285,225 (GRCm39) V258E probably benign Het
Catspere2 A T 1: 177,939,139 (GRCm39) I671F possibly damaging Het
Cd101 A G 3: 100,920,376 (GRCm39) S508P probably damaging Het
Cd177 C T 7: 24,444,499 (GRCm39) R694H probably benign Het
Clptm1 C A 7: 19,369,751 (GRCm39) Q386H possibly damaging Het
Cnrip1 A G 11: 17,004,705 (GRCm39) Y85C probably damaging Het
Dclk2 A T 3: 86,739,070 (GRCm39) F310I probably benign Het
Dmxl1 A G 18: 49,984,562 (GRCm39) K186R probably null Het
Dmxl1 C A 18: 49,996,124 (GRCm39) Q417K possibly damaging Het
Eloa T C 4: 135,740,220 (GRCm39) D67G possibly damaging Het
Elovl4 T C 9: 83,665,278 (GRCm39) I103V probably benign Het
Gabpa C G 16: 84,657,361 (GRCm39) A412G probably benign Het
Gldn T A 9: 54,242,158 (GRCm39) probably null Het
Ino80d A T 1: 63,104,993 (GRCm39) I361N probably damaging Het
Kalrn G A 16: 33,796,073 (GRCm39) T1234M probably damaging Het
Kcnk13 T A 12: 100,028,026 (GRCm39) M367K probably benign Het
Klrd1 G A 6: 129,570,468 (GRCm39) R8Q possibly damaging Het
Kmt2a T C 9: 44,758,942 (GRCm39) N969S probably benign Het
Lgi4 A G 7: 30,768,315 (GRCm39) D438G probably benign Het
Lig1 T C 7: 13,039,840 (GRCm39) L684P probably damaging Het
Lrp2 T C 2: 69,340,846 (GRCm39) M1010V probably benign Het
Magi3 C A 3: 103,996,873 (GRCm39) R224I probably damaging Het
Mier2 T C 10: 79,380,573 (GRCm39) N277S probably damaging Het
Morn1 A G 4: 155,171,112 (GRCm39) H17R probably benign Het
Nf2 A T 11: 4,749,878 (GRCm39) S265T probably damaging Het
Or5m11b A G 2: 85,805,700 (GRCm39) T38A possibly damaging Het
Or8k24 G A 2: 86,216,024 (GRCm39) T246I possibly damaging Het
Palb2 A G 7: 121,726,270 (GRCm39) probably null Het
Pdzd2 C T 15: 12,385,951 (GRCm39) V940M probably damaging Het
Phldb2 T C 16: 45,598,138 (GRCm39) K850E probably damaging Het
Polr2a C T 11: 69,626,787 (GRCm39) A1516T probably benign Het
Pomp T A 5: 147,812,313 (GRCm39) M133K possibly damaging Het
Prex1 T C 2: 166,423,913 (GRCm39) E993G probably damaging Het
Prrc2c C A 1: 162,533,075 (GRCm39) probably benign Het
Pwp2 C A 10: 78,007,917 (GRCm39) Q879H probably damaging Het
Rab26 G A 17: 24,748,766 (GRCm39) T245I probably damaging Het
Rapgef1 A G 2: 29,592,514 (GRCm39) D502G probably damaging Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Sema5a T A 15: 32,550,421 (GRCm39) D153E probably benign Het
Sez6 C G 11: 77,844,385 (GRCm39) H69Q probably damaging Het
Sgsm3 A T 15: 80,893,095 (GRCm39) T391S probably benign Het
Sh3rf2 T C 18: 42,234,670 (GRCm39) V151A possibly damaging Het
Socs1 G T 16: 10,602,266 (GRCm39) A157E probably benign Het
Spmip4 T A 6: 50,566,145 (GRCm39) Q110L possibly damaging Het
Sptbn4 C A 7: 27,071,375 (GRCm39) V346L possibly damaging Het
Srgap1 T A 10: 121,621,523 (GRCm39) H990L probably damaging Het
Tbc1d9 G T 8: 83,892,809 (GRCm39) G36W probably damaging Het
Tbk1 T C 10: 121,395,782 (GRCm39) E437G probably benign Het
Tns3 A G 11: 8,481,743 (GRCm39) L203P probably damaging Het
Tspoap1 A T 11: 87,656,638 (GRCm39) K283M probably damaging Het
Ttyh1 C T 7: 4,127,649 (GRCm39) probably benign Het
Ufd1 T A 16: 18,645,850 (GRCm39) I254N probably benign Het
Ugdh T G 5: 65,584,776 (GRCm39) T49P probably benign Het
Vav3 T C 3: 109,434,810 (GRCm39) L447P probably damaging Het
Vmn1r216 A T 13: 23,283,445 (GRCm39) K43* probably null Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r13 A G 5: 109,306,015 (GRCm39) I521T possibly damaging Het
Wdfy3 T C 5: 101,991,932 (GRCm39) T3470A probably benign Het
Wdhd1 T A 14: 47,485,587 (GRCm39) K791N probably damaging Het
Xirp2 A G 2: 67,338,911 (GRCm39) D384G probably damaging Het
Zfp512b C T 2: 181,232,273 (GRCm39) R86Q probably damaging Het
Zfp735 A C 11: 73,601,880 (GRCm39) I275L probably benign Het
Zfp957 A T 14: 79,451,344 (GRCm39) S152T probably damaging Het
Other mutations in Pitx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01750:Pitx1 APN 13 55,974,304 (GRCm39) missense probably damaging 1.00
R4492:Pitx1 UTSW 13 55,976,465 (GRCm39) missense probably benign 0.35
R5360:Pitx1 UTSW 13 55,976,291 (GRCm39) missense probably damaging 0.97
R5381:Pitx1 UTSW 13 55,973,892 (GRCm39) missense probably damaging 1.00
R5484:Pitx1 UTSW 13 55,974,166 (GRCm39) missense probably benign 0.01
R6314:Pitx1 UTSW 13 55,974,166 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- ATTCTGACAGAGTTCAGGGCAG -3'
(R):5'- ATTCCTACCTGCTGCAGACAAG -3'

Sequencing Primer
(F):5'- GCCTAAAGTGGGGTCTCCTAC -3'
(R):5'- CTGCAGACAAGGAGCGC -3'
Posted On 2018-11-06