Incidental Mutation 'R6314:Pitx1'
ID 509957
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 044471-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.830) question?
Stock # R6314 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 55972864-55984005 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55974166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 222 (S222T)
Ref Sequence ENSEMBL: ENSMUSP00000021968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021968] [ENSMUST00000173618]
AlphaFold P70314
Predicted Effect possibly damaging
Transcript: ENSMUST00000021968
AA Change: S222T

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021968
Gene: ENSMUSG00000021506
AA Change: S222T

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 benign
Transcript: ENSMUST00000173618
SMART Domains Protein: ENSMUSP00000134609
Gene: ENSMUSG00000021506

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 0.0587 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik A C 5: 146,441,702 (GRCm39) E283A possibly damaging Het
Aadacl2 A T 3: 59,924,824 (GRCm39) R130S probably damaging Het
Adam22 A T 5: 8,177,365 (GRCm39) C581* probably null Het
Adss2 T A 1: 177,595,334 (GRCm39) Y402F probably damaging Het
Agfg1 A T 1: 82,836,155 (GRCm39) Q13H probably damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Armc8 A G 9: 99,417,937 (GRCm39) S74P probably benign Het
Atn1 A T 6: 124,724,013 (GRCm39) probably benign Het
Ddx5 T C 11: 106,679,347 (GRCm39) probably benign Het
Depdc1a T A 3: 159,204,051 (GRCm39) H33Q probably damaging Het
Dnmt3l A T 10: 77,895,521 (GRCm39) Y58F probably benign Het
Efemp1 C T 11: 28,864,603 (GRCm39) T219I probably benign Het
Enpp2 T C 15: 54,729,366 (GRCm39) N436D probably damaging Het
Epb41l4a A G 18: 34,007,208 (GRCm39) V261A probably damaging Het
Erap1 A T 13: 74,822,894 (GRCm39) K802N probably damaging Het
Fads2b T C 2: 85,332,520 (GRCm39) N168S probably benign Het
Fcrl6 T A 1: 172,426,186 (GRCm39) probably null Het
Fv1 A T 4: 147,954,156 (GRCm39) probably null Het
Gdpd4 T A 7: 97,623,160 (GRCm39) M257K probably damaging Het
Gorab T C 1: 163,224,658 (GRCm39) S48G probably damaging Het
Gxylt2 A T 6: 100,775,164 (GRCm39) H361L probably damaging Het
Hk1 A G 10: 62,128,223 (GRCm39) Y300H possibly damaging Het
Hk3 T C 13: 55,161,393 (GRCm39) R156G probably benign Het
Hook3 T A 8: 26,578,136 (GRCm39) M118L probably benign Het
Lmnb2 G A 10: 80,745,804 (GRCm39) R92C probably damaging Het
Lsr A G 7: 30,658,024 (GRCm39) L380P probably damaging Het
Mettl16 A T 11: 74,686,832 (GRCm39) R204* probably null Het
Or5h18 A T 16: 58,847,820 (GRCm39) I150K probably benign Het
Or7a37 A G 10: 78,806,179 (GRCm39) H232R probably benign Het
Or7e173 C A 9: 19,938,958 (GRCm39) S92I probably damaging Het
Orc3 C A 4: 34,579,797 (GRCm39) G494C possibly damaging Het
Pcare T G 17: 72,059,452 (GRCm39) Q75P probably benign Het
Pip5k1a G T 3: 94,975,432 (GRCm39) T346K probably damaging Het
Pm20d1 T C 1: 131,743,754 (GRCm39) V473A possibly damaging Het
Pnpla6 C T 8: 3,571,572 (GRCm39) L168F probably benign Het
Pramel13 T C 4: 144,121,157 (GRCm39) D289G probably damaging Het
Reln C A 5: 22,357,482 (GRCm39) E195* probably null Het
S100a7l2 A T 3: 90,995,683 (GRCm39) V73E possibly damaging Het
Sec24b A T 3: 129,800,894 (GRCm39) probably null Het
Selenbp1 A G 3: 94,844,576 (GRCm39) N78D probably damaging Het
Serpina1d T A 12: 103,730,959 (GRCm39) T340S probably benign Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Snap29 T C 16: 17,237,183 (GRCm39) M98T probably benign Het
Son G T 16: 91,457,298 (GRCm39) probably benign Het
Spef1l A C 7: 139,556,402 (GRCm39) L195R possibly damaging Het
Tgfbi A T 13: 56,773,976 (GRCm39) T252S probably benign Het
Thsd7a T C 6: 12,554,996 (GRCm39) N296S possibly damaging Het
Tmem225 C G 9: 40,062,016 (GRCm39) T210S probably benign Het
Tmem245 A T 4: 56,888,592 (GRCm39) V778D possibly damaging Het
Tor4a T C 2: 25,084,794 (GRCm39) R370G possibly damaging Het
Tubgcp3 T C 8: 12,698,625 (GRCm39) H442R probably benign Het
Vmn1r20 A T 6: 57,409,042 (GRCm39) M123L probably benign Het
Zfp622 T C 15: 25,987,067 (GRCm39) V273A probably benign Het
Zhx1 C T 15: 57,917,398 (GRCm39) V283I probably benign 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
R6897:Pitx1 UTSW 13 55,976,335 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGCCAAACGACGAGTGCTG -3'
(R):5'- AGCAGTTGGACCTGTGCAAG -3'

Sequencing Primer
(F):5'- CAAACGACGAGTGCTGCTTGG -3'
(R):5'- TATGTGCCGCAGTTCAGC -3'
Posted On 2018-04-02