Mutagenetix > Incidental Mutation

Incidental Mutation 'R6283:Pinx1'

508074

Institutional Source

Beutler Lab

Gene Symbol

Pinx1

Ensembl Gene

ENSMUSG00000021958

Gene Name

PIN2/TERF1 interacting, telomerase inhibitor 1

Synonyms

2610028A01Rik, LPTS, 2210403I16Rik

MMRRC Submission

044453-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64097813-64157308 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 64115621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 152 (N152T)

Ref Sequence

ENSEMBL: ENSMUSP00000022528 (fasta)

Gene Model

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

AlphaFold

Q9CZX5

Predicted Effect

probably benign
Transcript: ENSMUST00000022528
AA Change: N152T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000022528
Gene: ENSMUSG00000021958
AA Change: N152T

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (59/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	C	A	8: 123,512,694 (GRCm39)	R372S	probably damaging	Het
Adamts20	A	G	15: 94,249,602 (GRCm39)	S472P	probably benign	Het
Bhlhe40	T	C	6: 108,641,992 (GRCm39)	L312P	probably damaging	Het
Ccdc180	A	G	4: 45,902,486 (GRCm39)	E305G	possibly damaging	Het
Ccdc83	T	A	7: 89,885,615 (GRCm39)	R257*	probably null	Het
Cd209e	G	A	8: 3,899,212 (GRCm39)	Q167*	probably null	Het
Cd300e	G	A	11: 114,945,380 (GRCm39)	T138I	probably benign	Het
Ces2c	A	T	8: 105,576,331 (GRCm39)	M115L	probably benign	Het
Cfap61	T	A	2: 145,971,022 (GRCm39)		probably null	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Cic	C	T	7: 24,985,459 (GRCm39)	S301L	probably damaging	Het
Cks2	A	G	13: 51,799,495 (GRCm39)	H16R	probably benign	Het
Copa	A	T	1: 171,946,415 (GRCm39)	H953L	possibly damaging	Het
Ctdsp2	T	C	10: 126,831,749 (GRCm39)	V145A	possibly damaging	Het
Cyp2j13	A	G	4: 95,945,074 (GRCm39)	V377A	possibly damaging	Het
Dhx57	A	G	17: 80,582,234 (GRCm39)	V404A	probably benign	Het
Dock2	T	C	11: 34,598,152 (GRCm39)	S340G	probably damaging	Het
Ggps1	A	G	13: 14,232,379 (GRCm39)		probably null	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11444	T	C	11: 85,737,617 (GRCm39)		probably null	Het
Grina	A	G	15: 76,132,751 (GRCm39)	T173A	possibly damaging	Het
Hcrtr1	G	A	4: 130,029,133 (GRCm39)	T223I	probably benign	Het
Igsf10	T	A	3: 59,226,870 (GRCm39)	T2268S	probably damaging	Het
Inhca	G	A	9: 103,159,834 (GRCm39)	R14*	probably null	Het
Ino80d	C	T	1: 63,101,285 (GRCm39)	R447Q	probably damaging	Het
Inpp4b	C	T	8: 82,497,462 (GRCm39)	T94M	probably damaging	Het
Itga2	A	G	13: 115,005,786 (GRCm39)	Y465H	probably damaging	Het
Knl1	A	G	2: 118,900,767 (GRCm39)	T823A	probably damaging	Het
Krtap4-16	A	G	11: 99,741,861 (GRCm39)	S180P	unknown	Het
Ldc1	A	G	4: 130,115,534 (GRCm39)	S5P	probably benign	Het
Lpar6	A	T	14: 73,476,297 (GRCm39)	D86V	probably damaging	Het
Muc5ac	C	A	7: 141,370,601 (GRCm39)	C2500*	probably null	Het
Mzf1	T	C	7: 12,787,296 (GRCm39)		probably benign	Het
Or4f58	A	C	2: 111,851,605 (GRCm39)	M198R	possibly damaging	Het
Or5d46	T	A	2: 88,170,002 (GRCm39)	I31N	probably benign	Het
Or5m3	G	T	2: 85,838,443 (GRCm39)	V108L	possibly damaging	Het
Or7a36	T	C	10: 78,820,113 (GRCm39)	V163A	probably benign	Het
Otogl	T	G	10: 107,626,361 (GRCm39)	E1501A	probably damaging	Het
Pcdh10	T	A	3: 45,335,989 (GRCm39)	S768T	possibly damaging	Het
Pcnx2	G	T	8: 126,604,325 (GRCm39)	Q644K	probably damaging	Het
Pdzd9	T	A	7: 120,259,449 (GRCm39)	I180F	possibly damaging	Het
Prr14l	T	C	5: 32,987,608 (GRCm39)	E629G	probably benign	Het
Qpctl	T	A	7: 18,882,345 (GRCm39)	I104F	probably benign	Het
Rabep1	C	T	11: 70,808,505 (GRCm39)	A444V	probably damaging	Het
Rnf150	A	G	8: 83,717,183 (GRCm39)	Y230C	probably damaging	Het
Slc25a27	A	C	17: 43,968,621 (GRCm39)	V152G	probably damaging	Het
Swt1	A	G	1: 151,260,084 (GRCm39)	S772P	possibly damaging	Het
Tenm4	A	G	7: 96,523,701 (GRCm39)	T1711A	probably benign	Het
Tfap2d	G	C	1: 19,174,702 (GRCm39)	G52R	probably benign	Het
Tmem265	T	G	7: 127,164,044 (GRCm39)	V86G	possibly damaging	Het
Trpm8	C	T	1: 88,276,054 (GRCm39)	H551Y	probably benign	Het
Ttc6	T	G	12: 57,749,048 (GRCm39)	Y1327D	possibly damaging	Het
Uevld	G	T	7: 46,587,729 (GRCm39)	Q324K	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r73	C	T	7: 85,521,049 (GRCm39)	M306I	probably benign	Het
Vmn2r93	T	A	17: 18,524,366 (GRCm39)	M120K	probably benign	Het
Zfp804b	T	A	5: 6,819,908 (GRCm39)	I1016F	probably benign	Het
Zfp90	T	C	8: 107,152,026 (GRCm39)	C580R	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
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
R7800:Pinx1	UTSW	14	64,156,984 (GRCm39)	missense	probably benign	0.02
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'- ACTGAACCTTTCATTGTAGTCCG -3'
(R):5'- CAAGCCATCATGTACAACGGAG -3'

Sequencing Primer
(F):5'- CATAGTTGTAAAGTGAGGTCAGAGTC -3'
(R):5'- CCATCATGTACAACGGAGGATGTATC -3'

Posted On

2018-03-15