Mutagenetix > Incidental Mutation

Incidental Mutation 'R5484:Pitx1'

430331

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

043045-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.793) question?

Stock #

R5484 (G1)

Quality Score

119

Status

Validated

Chromosome

Chromosomal Location

55972864-55984005 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55974166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 222 (S222P)

Ref Sequence

ENSEMBL: ENSMUSP00000021968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021968] [ENSMUST00000173618]

AlphaFold

P70314

Predicted Effect

probably benign
Transcript: ENSMUST00000021968
AA Change: S222P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000021968
Gene: ENSMUSG00000021506
AA Change: S222P

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

0.0595

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.4%

Validation Efficiency

97% (76/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,313,851 (GRCm39)	H609R	probably benign	Het
Abca6	A	T	11: 110,074,899 (GRCm39)	V1388E	probably damaging	Het
Alx1	T	A	10: 102,861,177 (GRCm39)	D117V	probably damaging	Het
Ascl4	T	C	10: 85,764,401 (GRCm39)	L16P	probably damaging	Het
Atp4a	G	A	7: 30,420,097 (GRCm39)		probably benign	Het
Btnl10	G	A	11: 58,814,651 (GRCm39)	V444M	probably damaging	Het
Camkv	A	T	9: 107,823,345 (GRCm39)	N124Y	probably damaging	Het
Catsperb	T	C	12: 101,542,175 (GRCm39)	L625P	probably benign	Het
Ccdc171	A	G	4: 83,612,199 (GRCm39)	I973V	probably benign	Het
Celsr1	T	C	15: 85,815,483 (GRCm39)	D1844G	probably benign	Het
Chd7	G	C	4: 8,828,258 (GRCm39)	K1066N	probably damaging	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Corin	T	C	5: 72,515,827 (GRCm39)	D409G	probably benign	Het
Cry1	T	C	10: 84,982,588 (GRCm39)		probably null	Het
Cttnbp2	T	A	6: 18,427,689 (GRCm39)		probably benign	Het
Cyrib	T	A	15: 63,815,056 (GRCm39)	T139S	probably damaging	Het
Dmxl1	T	A	18: 50,022,531 (GRCm39)	V1623E	probably damaging	Het
Dnah6	G	T	6: 73,069,099 (GRCm39)	D2477E	possibly damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dop1a	C	G	9: 86,427,341 (GRCm39)	R2164G	probably damaging	Het
Dsp	A	G	13: 38,368,014 (GRCm39)	T678A	possibly damaging	Het
Farsb	A	C	1: 78,452,833 (GRCm39)	I51S	probably damaging	Het
Gm10220	T	A	5: 26,322,930 (GRCm39)	I161L	possibly damaging	Het
Gm10782	G	T	13: 56,510,987 (GRCm39)		noncoding transcript	Het
Gm12830	A	T	4: 114,702,248 (GRCm39)	T137S	unknown	Het
Gopc	A	G	10: 52,234,942 (GRCm39)	L67P	probably damaging	Het
Hmcn1	T	C	1: 150,551,291 (GRCm39)	I2655V	probably benign	Het
Hmcn2	C	T	2: 31,283,066 (GRCm39)	Q1981*	probably null	Het
Ifi209	T	A	1: 173,468,640 (GRCm39)	S157T	probably benign	Het
Ift56	T	G	6: 38,366,057 (GRCm39)	C124W	probably benign	Het
Iqcf1	A	T	9: 106,379,107 (GRCm39)	I74F	probably damaging	Het
Irf3	A	T	7: 44,649,382 (GRCm39)	R78W	probably damaging	Het
Kank4	T	C	4: 98,663,022 (GRCm39)	D722G	probably benign	Het
Loxl1	A	G	9: 58,198,065 (GRCm39)	V597A	possibly damaging	Het
Marveld1	T	C	19: 42,136,272 (GRCm39)	L62P	probably damaging	Het
Mga	T	G	2: 119,747,107 (GRCm39)	D419E	possibly damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mroh2b	A	G	15: 4,938,463 (GRCm39)	K251E	possibly damaging	Het
Myh4	A	G	11: 67,142,644 (GRCm39)	E935G	probably damaging	Het
Nat8f2	C	A	6: 85,844,994 (GRCm39)	A123S	possibly damaging	Het
Niban1	A	G	1: 151,593,837 (GRCm39)	T841A	probably benign	Het
Or4d11	G	A	19: 12,013,192 (GRCm39)	L305F	probably benign	Het
Pcdha9	T	A	18: 37,131,156 (GRCm39)	V75E	probably damaging	Het
Pebp4	A	T	14: 70,200,991 (GRCm39)		probably null	Het
Plekhg3	G	A	12: 76,625,174 (GRCm39)	V1339M	possibly damaging	Het
Plekhs1	C	T	19: 56,468,260 (GRCm39)	S276L	possibly damaging	Het
Plin4	T	C	17: 56,411,932 (GRCm39)	T700A	possibly damaging	Het
Plxnb2	T	C	15: 89,048,412 (GRCm39)		probably null	Het
Pms2	T	C	5: 143,864,943 (GRCm39)	I675T	probably damaging	Het
Polrmt	A	G	10: 79,577,888 (GRCm39)	L268P	probably damaging	Het
Rtp1	A	G	16: 23,248,025 (GRCm39)	T33A	probably benign	Het
Safb2	T	C	17: 56,882,346 (GRCm39)		probably benign	Het
Sdk1	C	A	5: 142,085,941 (GRCm39)	P1383Q	probably damaging	Het
Setdb1	A	T	3: 95,244,569 (GRCm39)	C758S	probably damaging	Het
Sh3gl2	T	C	4: 85,317,160 (GRCm39)		probably benign	Het
Slc13a2	G	A	11: 78,295,648 (GRCm39)		probably benign	Het
Slc35b1	T	C	11: 95,278,631 (GRCm39)	Y126H	probably damaging	Het
Strip2	C	A	6: 29,917,154 (GRCm39)		probably benign	Het
Tbx4	A	G	11: 85,805,230 (GRCm39)	T440A	probably damaging	Het
Tcf7l2	C	A	19: 55,907,940 (GRCm39)		probably null	Het
Tgfb1	A	C	7: 25,387,574 (GRCm39)	D94A	probably benign	Het
Tmem132b	T	C	5: 125,864,797 (GRCm39)	C968R	probably damaging	Het
Tmem176b	T	A	6: 48,811,467 (GRCm39)	M61L	probably benign	Het
Tmem258	A	G	19: 10,184,689 (GRCm39)		probably null	Het
Tpr	T	C	1: 150,302,639 (GRCm39)	L1379S	probably benign	Het
Vmn2r44	T	C	7: 8,383,123 (GRCm39)	D157G	possibly damaging	Het
Wfdc8	T	C	2: 164,439,649 (GRCm39)	I244M	probably benign	Het
Zfp341	T	C	2: 154,466,921 (GRCm39)	S97P	probably benign	Het
Zfp655	T	C	5: 145,180,445 (GRCm39)	V101A	probably benign	Het
Zfp788	T	C	7: 41,299,277 (GRCm39)	S586P	probably damaging	Het
Zfp874b	C	T	13: 67,629,373 (GRCm39)	V52I	possibly damaging	Het

Other mutations in Pitx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R6314:Pitx1	UTSW	13	55,974,166 (GRCm39)	missense	possibly damaging	0.78
R6897:Pitx1	UTSW	13	55,976,335 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTGTTGTACTGGCAAGCG -3'
(R):5'- AGCAGTTGGACCTGTGCAAG -3'

Sequencing Primer
(F):5'- CAAACGACGAGTGCTGCTTG -3'
(R):5'- TATGTGCCGCAGTTCAGC -3'

Posted On

2016-10-05