Mutagenetix > Incidental Mutation

Incidental Mutation 'R7800:Pinx1'

600497

Institutional Source

Beutler Lab

Gene Symbol

Pinx1

Ensembl Gene

ENSMUSG00000021958

Gene Name

PIN2/TERF1 interacting, telomerase inhibitor 1

Synonyms

2610028A01Rik, LPTS, 2210403I16Rik

MMRRC Submission

045855-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7800 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64097813-64157308 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64156984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 304 (K304E)

Ref Sequence

ENSEMBL: ENSMUSP00000022528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022528]

AlphaFold

Q9CZX5

Predicted Effect

probably benign
Transcript: ENSMUST00000022528
AA Change: K304E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000022528
Gene: ENSMUSG00000021958
AA Change: K304E

Domain	Start	End	E-Value	Type
G_patch	24	70	4.01e-17	SMART
low complexity region	102	121	N/A	INTRINSIC
low complexity region	216	223	N/A	INTRINSIC
low complexity region	236	246	N/A	INTRINSIC
low complexity region	295	305	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

96% (47/49)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased embryonic size, pallor, anemia, and die during organogenesis. Mice heterozygous for a knock-out allele exhibit increased tumor incidence associated with chromosomal instability and elongated telomeres. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,078,698 (GRCm39)	D1264G	probably benign	Het
Ace	T	C	11: 105,876,884 (GRCm39)	F1122S	probably damaging	Het
Actr10	T	G	12: 70,990,283 (GRCm39)	Y112D	probably benign	Het
Cacnb1	T	G	11: 97,900,121 (GRCm39)	I346L	possibly damaging	Het
Camsap2	T	C	1: 136,209,639 (GRCm39)	T607A	probably damaging	Het
Cby3	T	C	11: 50,250,175 (GRCm39)	F32S	probably damaging	Het
Cers5	G	T	15: 99,634,122 (GRCm39)	H409N	probably benign	Het
Ces1h	A	T	8: 94,106,322 (GRCm39)	L11H		Het
Clcnkb	T	C	4: 141,141,833 (GRCm39)	Y51C	probably benign	Het
Cnnm2	A	G	19: 46,866,420 (GRCm39)	E856G	probably benign	Het
Cnot1	A	G	8: 96,491,690 (GRCm39)	V378A	probably benign	Het
Crisp4	A	C	1: 18,198,973 (GRCm39)	S154A	probably benign	Het
Disp1	C	T	1: 182,880,550 (GRCm39)	R241Q	probably benign	Het
Ermard	G	A	17: 15,277,065 (GRCm39)	R429H	probably benign	Het
Extl1	C	T	4: 134,098,929 (GRCm39)	G34D	probably benign	Het
Gen1	T	C	12: 11,291,863 (GRCm39)	D707G	probably benign	Het
H1f3	C	A	13: 23,739,541 (GRCm39)	T93N	possibly damaging	Het
Igkv5-37	A	C	6: 69,940,499 (GRCm39)	S48R	possibly damaging	Het
Ilvbl	C	T	10: 78,419,809 (GRCm39)	A571V	possibly damaging	Het
Itgb1	A	G	8: 129,439,718 (GRCm39)	K136E	possibly damaging	Het
Lhx8	A	G	3: 154,027,284 (GRCm39)	F253L	probably damaging	Het
Naa25	A	G	5: 121,562,594 (GRCm39)	T459A	possibly damaging	Het
Nr3c2	A	G	8: 77,636,621 (GRCm39)	Y574C	probably damaging	Het
Nrxn1	C	T	17: 91,396,635 (GRCm39)		probably benign	Het
Ntrk3	T	A	7: 77,952,488 (GRCm39)	R576S	probably benign	Het
Nup210l	A	G	3: 90,041,904 (GRCm39)	Y403C	probably damaging	Het
Or2ag12	A	G	7: 106,276,781 (GRCm39)	V304A	probably benign	Het
Or8b53	T	G	9: 38,667,914 (GRCm39)	L310W	probably damaging	Het
Otogl	T	A	10: 107,722,376 (GRCm39)	Y326F	probably damaging	Het
Pcdha1	T	A	18: 37,064,426 (GRCm39)	D363E	probably damaging	Het
Pcdhb3	T	A	18: 37,434,974 (GRCm39)	N313K	probably benign	Het
Pcdhb9	A	C	18: 37,534,602 (GRCm39)	S199R	probably benign	Het
Pde4dip	C	T	3: 97,622,599 (GRCm39)	D1537N	probably damaging	Het
Pnlip	T	C	19: 58,670,134 (GRCm39)	V458A	probably benign	Het
Polr3a	C	A	14: 24,534,455 (GRCm39)	M60I	probably null	Het
Qrich2	G	T	11: 116,347,686 (GRCm39)	S1046*	probably null	Het
Rigi	T	C	4: 40,211,618 (GRCm39)	E650G	probably benign	Het
Rps6ka5	G	A	12: 100,524,824 (GRCm39)	P638S	probably damaging	Het
Slc6a13	T	A	6: 121,298,658 (GRCm39)	N158K	probably damaging	Het
Sord	T	C	2: 122,089,561 (GRCm39)	V187A	probably damaging	Het
Sult2a2	A	G	7: 13,468,710 (GRCm39)	T59A	probably benign	Het
Thbs2	T	C	17: 14,896,558 (GRCm39)	D777G	probably damaging	Het
Tmed9	A	G	13: 55,743,345 (GRCm39)	D159G	probably benign	Het
Trbc1	A	G	6: 41,516,195 (GRCm39)	I142V		Het
Usp17ld	A	G	7: 102,900,041 (GRCm39)	V297A	probably damaging	Het
Vmn1r167	A	T	7: 23,204,069 (GRCm39)	*316R	probably null	Het
Wdr59	C	A	8: 112,248,570 (GRCm39)	R15L		Het
Zfp189	C	T	4: 49,529,367 (GRCm39)	P157S	possibly damaging	Het
Zfp407	C	T	18: 84,578,800 (GRCm39)	G771D	probably damaging	Het

Other mutations in Pinx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01353:Pinx1	APN	14	64,103,564 (GRCm39)	missense	probably benign	0.45
IGL02618:Pinx1	APN	14	64,105,969 (GRCm39)	missense	probably damaging	0.98
IGL02850:Pinx1	APN	14	64,156,609 (GRCm39)	missense	probably damaging	0.96
IGL03342:Pinx1	APN	14	64,157,018 (GRCm39)	missense	probably benign	0.03
R1300:Pinx1	UTSW	14	64,156,859 (GRCm39)	missense	probably benign	0.19
R1636:Pinx1	UTSW	14	64,103,586 (GRCm39)	missense	probably damaging	1.00
R1728:Pinx1	UTSW	14	64,115,559 (GRCm39)	critical splice acceptor site	probably null
R1758:Pinx1	UTSW	14	64,157,024 (GRCm39)	missense	probably benign	0.12
R1784:Pinx1	UTSW	14	64,115,559 (GRCm39)	critical splice acceptor site	probably null
R4770:Pinx1	UTSW	14	64,109,820 (GRCm39)	missense	probably damaging	1.00
R6283:Pinx1	UTSW	14	64,115,621 (GRCm39)	missense	probably benign	0.00
R7140:Pinx1	UTSW	14	64,097,834 (GRCm39)	splice site	probably null
R7539:Pinx1	UTSW	14	64,156,655 (GRCm39)	missense	probably benign	0.00
R7690:Pinx1	UTSW	14	64,101,660 (GRCm39)	splice site	probably null
R7808:Pinx1	UTSW	14	64,156,741 (GRCm39)	nonsense	probably null
R8404:Pinx1	UTSW	14	64,157,063 (GRCm39)	missense	unknown
R8552:Pinx1	UTSW	14	64,156,972 (GRCm39)	missense	probably benign	0.15
R9330:Pinx1	UTSW	14	64,109,777 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GATGTAGAGAACTCTCCCCAAC -3'
(R):5'- AAAGATGCTGAGCCACCTGG -3'

Sequencing Primer
(F):5'- TGTAGAGAACTCTCCCCAACACAAG -3'
(R):5'- GGCTTCGCCGTGCTCTC -3'

Posted On

2019-11-26