Mutagenetix > Incidental Mutation

Incidental Mutation 'R7289:Pttg1'

566255

Institutional Source

Beutler Lab

Gene Symbol

Pttg1

Ensembl Gene

ENSMUSG00000020415

Gene Name

pituitary tumor-transforming gene 1

Synonyms

PTTG, securin

MMRRC Submission

045396-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7289 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43311077-43317078 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43311916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 180 (N180D)

Ref Sequence

ENSEMBL: ENSMUSP00000112841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020685] [ENSMUST00000020687] [ENSMUST00000101340] [ENSMUST00000117446] [ENSMUST00000118368] [ENSMUST00000121638] [ENSMUST00000140434] [ENSMUST00000152115]

AlphaFold

Q9CQJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000020685
AA Change: N180D

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000020685
Gene: ENSMUSG00000020415
AA Change: N180D

Domain	Start	End	E-Value	Type
Pfam:Securin	1	186	1.4e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000020687

SMART Domains

Protein: ENSMUSP00000020687
Gene: ENSMUSG00000020415

Domain	Start	End	E-Value	Type
Pfam:Securin	1	184	1.9e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101340

SMART Domains

Protein: ENSMUSP00000098894
Gene: ENSMUSG00000020415

Domain	Start	End	E-Value	Type
Pfam:Securin	1	181	3.1e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117446
AA Change: N180D

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112841
Gene: ENSMUSG00000020415
AA Change: N180D

Domain	Start	End	E-Value	Type
Pfam:Securin	1	186	1.4e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118368

SMART Domains

Protein: ENSMUSP00000112834
Gene: ENSMUSG00000020415

Domain	Start	End	E-Value	Type
Pfam:Securin	1	181	3.1e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121638

SMART Domains

Protein: ENSMUSP00000112815
Gene: ENSMUSG00000020415

Domain	Start	End	E-Value	Type
Pfam:Securin	1	181	3.1e-41	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000140434
AA Change: N91D

SMART Domains

Protein: ENSMUSP00000122019
Gene: ENSMUSG00000020415
AA Change: N91D

Domain	Start	End	E-Value	Type
Pfam:Securin	1	97	1.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152115

SMART Domains

Protein: ENSMUSP00000119554
Gene: ENSMUSG00000020415

Domain	Start	End	E-Value	Type
Pfam:Securin	1	122	1.7e-25	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein is a homolog of yeast securin proteins, which prevent separins from promoting sister chromatid separation. It is an anaphase-promoting complex (APC) substrate that associates with a separin until activation of the APC. The gene product has transforming activity in vitro and tumorigenic activity in vivo, and the gene is highly expressed in various tumors. The gene product contains 2 PXXP motifs, which are required for its transforming and tumorigenic activities, as well as for its stimulation of basic fibroblast growth factor expression. It also contains a destruction box (D box) that is required for its degradation by the APC. The acidic C-terminal region of the encoded protein can act as a transactivation domain. The gene product is mainly a cytosolic protein, although it partially localizes in the nucleus. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a knock-out allele show testicular and splenic hypoplasia, thymic hyperplasia, thrombocytopenia, aberrant cell cycle progression, chromosome instability, premature centromere division, reduced female fertility, reduced pancreatic betacell mass and sexually-dimorphic diabetes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,818,550 (GRCm39)	D112N	probably damaging	Het
Abca7	T	A	10: 79,845,778 (GRCm39)	I1580K	probably damaging	Het
Aebp1	A	G	11: 5,815,059 (GRCm39)	D234G	probably damaging	Het
Agap1	T	A	1: 89,383,153 (GRCm39)	M1K	probably null	Het
Agrn	A	T	4: 156,263,389 (GRCm39)	L345H	probably damaging	Het
Amfr	A	G	8: 94,725,754 (GRCm39)	M209T	possibly damaging	Het
Angel2	G	A	1: 190,673,371 (GRCm39)	R338H	possibly damaging	Het
Ankrd27	C	T	7: 35,330,674 (GRCm39)	A866V	probably damaging	Het
Apc	G	A	18: 34,448,324 (GRCm39)	R1740Q	probably damaging	Het
Arhgap32	A	T	9: 32,168,233 (GRCm39)	S739C	possibly damaging	Het
Arhgap32	G	C	9: 32,168,234 (GRCm39)	S739T	probably benign	Het
Arhgef2	C	T	3: 88,543,192 (GRCm39)	S418L	probably benign	Het
Arhgef25	T	C	10: 127,019,641 (GRCm39)	T472A	possibly damaging	Het
Atrnl1	C	T	19: 57,638,846 (GRCm39)	S328F	probably benign	Het
Bahcc1	C	T	11: 120,171,000 (GRCm39)	A1514V	probably benign	Het
Calcoco2	C	T	11: 95,990,823 (GRCm39)	E305K	unknown	Het
Ccn1	C	T	3: 145,354,428 (GRCm39)	W161*	probably null	Het
Cdc42bpa	A	T	1: 179,889,362 (GRCm39)	K203*	probably null	Het
Cmc1	A	T	9: 117,904,250 (GRCm39)	I47N	possibly damaging	Het
Cntln	A	G	4: 84,964,540 (GRCm39)	E656G	possibly damaging	Het
Dcun1d3	T	C	7: 119,458,864 (GRCm39)	K57R	possibly damaging	Het
Ddx23	T	C	15: 98,546,492 (GRCm39)	E559G	probably damaging	Het
Dennd6a	G	A	14: 26,333,193 (GRCm39)	R367Q	probably damaging	Het
Desi2	A	T	1: 178,083,702 (GRCm39)		probably benign	Het
Dido1	T	C	2: 180,301,424 (GRCm39)	D2160G	unknown	Het
Efcab3	T	C	11: 104,929,184 (GRCm39)	M4838T	probably benign	Het
Epb41	A	G	4: 131,718,520 (GRCm39)		probably null	Het
Esrrb	T	A	12: 86,517,331 (GRCm39)		probably null	Het
Fabp1	C	A	6: 71,180,111 (GRCm39)	T94N	probably benign	Het
Fam120a	A	T	13: 49,045,482 (GRCm39)	C785S	probably damaging	Het
Fam243	T	C	16: 92,117,710 (GRCm39)	I193V	probably damaging	Het
Foxc1	A	G	13: 31,991,243 (GRCm39)	Y18C	probably damaging	Het
Fshr	T	C	17: 89,293,272 (GRCm39)	T469A	probably benign	Het
Gm14399	T	A	2: 174,972,204 (GRCm39)	H517L	unknown	Het
Gm39115	G	T	7: 141,689,297 (GRCm39)	Q159K	unknown	Het
Gm7347	T	A	5: 26,262,306 (GRCm39)	I72F	possibly damaging	Het
Hmcn1	A	G	1: 150,559,466 (GRCm39)	V2395A	possibly damaging	Het
Ighv5-17	T	G	12: 113,822,858 (GRCm39)	T88P	probably damaging	Het
Insm2	T	A	12: 55,647,329 (GRCm39)	Y358N	probably damaging	Het
Kazn	A	T	4: 141,844,486 (GRCm39)	L409Q		Het
Kcnj5	A	C	9: 32,234,045 (GRCm39)	L90R	probably damaging	Het
Kcnv2	A	T	19: 27,311,084 (GRCm39)	T484S	probably damaging	Het
Kdm3b	T	C	18: 34,927,557 (GRCm39)	Y140H	probably benign	Het
Kifbp	A	C	10: 62,401,895 (GRCm39)	C261W	probably damaging	Het
Krt25	C	T	11: 99,212,098 (GRCm39)	A180T	probably benign	Het
Mmp1a	A	G	9: 7,467,294 (GRCm39)	E290G	probably damaging	Het
Muc21	G	A	17: 35,929,761 (GRCm39)	A1475V	unknown	Het
Nr3c1	T	C	18: 39,547,654 (GRCm39)	T755A	probably benign	Het
Nr3c1	A	T	18: 39,555,786 (GRCm39)	I517N	probably benign	Het
Nxpe2	A	G	9: 48,234,339 (GRCm39)		probably null	Het
Oaz1	C	A	10: 80,662,673 (GRCm39)	T27K	possibly damaging	Het
Or4p7	A	T	2: 88,222,050 (GRCm39)	H153L	probably damaging	Het
Or51f5	T	C	7: 102,424,634 (GRCm39)	I301T	probably damaging	Het
Or5t5	G	T	2: 86,617,034 (GRCm39)	C320F	probably benign	Het
Or6z3	T	A	7: 6,463,777 (GRCm39)	W90R	probably benign	Het
Or8k21	A	G	2: 86,145,369 (GRCm39)	M87T	probably benign	Het
Or8s5	A	G	15: 98,237,943 (GRCm39)	V309A	probably damaging	Het
Pafah2	A	T	4: 134,147,308 (GRCm39)	K319M	probably damaging	Het
Pask	A	T	1: 93,259,309 (GRCm39)	V236E	probably damaging	Het
Pcdh1	T	C	18: 38,322,966 (GRCm39)	T956A	probably damaging	Het
Pcdhb18	C	A	18: 37,623,700 (GRCm39)	N343K	probably damaging	Het
Pcsk2	A	T	2: 143,532,343 (GRCm39)	I164F	probably damaging	Het
Phf1	T	C	17: 27,154,289 (GRCm39)	Y169H	probably damaging	Het
Pkdrej	T	A	15: 85,705,301 (GRCm39)	I212F	probably benign	Het
Pnkp	T	A	7: 44,508,114 (GRCm39)	W146R	probably damaging	Het
Prkcb	A	T	7: 122,143,910 (GRCm39)	I325F	probably benign	Het
Ptpn21	C	T	12: 98,670,450 (GRCm39)	D239N	probably benign	Het
Ptprb	A	G	10: 116,164,070 (GRCm39)	T626A	probably damaging	Het
Raly	G	A	2: 154,703,774 (GRCm39)	R115Q	probably damaging	Het
Rims2	A	T	15: 39,301,114 (GRCm39)	M474L	probably benign	Het
Sash1	A	T	10: 8,605,960 (GRCm39)	I810N	probably damaging	Het
Scnn1g	T	A	7: 121,337,304 (GRCm39)	L55*	probably null	Het
Sema6b	A	T	17: 56,432,573 (GRCm39)	D543E	possibly damaging	Het
Serpina11	C	T	12: 103,952,761 (GRCm39)	G5E	unknown	Het
Sesn3	A	T	9: 14,187,848 (GRCm39)	M1L	probably benign	Het
Sez6	T	A	11: 77,865,149 (GRCm39)	I632N	possibly damaging	Het
Sgo2b	A	T	8: 64,394,192 (GRCm39)	I49N	probably damaging	Het
Slc30a2	A	T	4: 134,071,524 (GRCm39)	I86F	possibly damaging	Het
Slc38a6	T	A	12: 73,333,786 (GRCm39)	W30R	probably benign	Het
Spata31g1	A	T	4: 42,972,379 (GRCm39)	T571S	probably benign	Het
Spata31g1	A	T	4: 42,973,252 (GRCm39)	I862F	possibly damaging	Het
Stk31	T	G	6: 49,415,393 (GRCm39)	V576G	probably benign	Het
Szt2	G	A	4: 118,233,075 (GRCm39)	T2297I	unknown	Het
Tmem208	T	C	8: 106,061,418 (GRCm39)	F148S	possibly damaging	Het
Tprg1l	A	G	4: 154,245,031 (GRCm39)	L19P	possibly damaging	Het
Tubg2	C	A	11: 101,050,897 (GRCm39)	N207K	probably damaging	Het
Ube2n	G	T	10: 95,377,612 (GRCm39)	K130N	probably benign	Het
Usp36	T	C	11: 118,164,355 (GRCm39)	Y384C	probably damaging	Het
Vcan	A	T	13: 89,840,852 (GRCm39)	L1564*	probably null	Het
Xkr6	A	T	14: 64,035,748 (GRCm39)	D283V	unknown	Het
Zfp654	T	C	16: 64,605,523 (GRCm39)	H352R	probably benign	Het
Zfp819	T	A	7: 43,266,506 (GRCm39)	C330S	probably damaging	Het
Zfp970	G	T	2: 177,167,086 (GRCm39)	C220F	probably damaging	Het

Other mutations in Pttg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1826:Pttg1	UTSW	11	43,311,193 (GRCm39)	missense	probably damaging	0.98
R2433:Pttg1	UTSW	11	43,311,178 (GRCm39)	missense	probably damaging	0.98
R4448:Pttg1	UTSW	11	43,315,517 (GRCm39)	intron	probably benign
R4663:Pttg1	UTSW	11	43,315,677 (GRCm39)	nonsense	probably null
R6483:Pttg1	UTSW	11	43,315,671 (GRCm39)	missense	probably damaging	0.98
R7104:Pttg1	UTSW	11	43,311,976 (GRCm39)	missense	probably benign	0.12
R7914:Pttg1	UTSW	11	43,316,421 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- TCCTAGCCTAAGCAGCTCTG -3'
(R):5'- ACTTTGAGAGTTTTGACCTGCC -3'

Sequencing Primer
(F):5'- GCCTAAGCAGCTCTGTGTTCAAC -3'
(R):5'- TTTGACCTGCCTGAGGAGCAC -3'

Posted On

2019-06-26