Mutagenetix > Incidental Mutation

Incidental Mutation 'R7140:Pinx1'

568554

Institutional Source

Beutler Lab

Gene Symbol

Pinx1

Ensembl Gene

ENSMUSG00000021958

Gene Name

PIN2/TERF1 interacting, telomerase inhibitor 1

Synonyms

2610028A01Rik, LPTS, 2210403I16Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64097813-64157308 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 64097834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022528 (fasta)

Gene Model

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

AlphaFold

Q9CZX5

Predicted Effect

probably null
Transcript: ENSMUST00000022528

SMART Domains

Protein: ENSMUSP00000022528
Gene: ENSMUSG00000021958

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

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	T	C	8: 27,610,929 (GRCm39)		probably null	Het
Ap2a2	G	A	7: 141,178,777 (GRCm39)	A148T	probably benign	Het
Arhgef3	A	T	14: 27,123,664 (GRCm39)	N442Y	probably damaging	Het
B3gat3	A	G	19: 8,903,216 (GRCm39)	Y191C	probably damaging	Het
B430306N03Rik	A	T	17: 48,629,483 (GRCm39)	K203*	probably null	Het
C1qtnf6	T	A	15: 78,409,283 (GRCm39)	Y188F	probably benign	Het
Capn10	T	C	1: 92,872,993 (GRCm39)	V573A	possibly damaging	Het
Cbx4	T	C	11: 118,972,754 (GRCm39)	Y207C	probably damaging	Het
Ccdc43	G	T	11: 102,579,695 (GRCm39)		probably null	Het
Ccng2	C	A	5: 93,416,614 (GRCm39)	P45Q	probably benign	Het
Cd86	T	C	16: 36,441,263 (GRCm39)	H68R	probably benign	Het
Cmtm4	A	G	8: 105,081,827 (GRCm39)	Y187H	probably damaging	Het
Cst11	T	C	2: 148,610,649 (GRCm39)	N134S	probably benign	Het
Cyp3a25	A	T	5: 145,939,855 (GRCm39)	F51I	probably benign	Het
Dnhd1	A	G	7: 105,342,973 (GRCm39)	E1439G	probably benign	Het
Dock4	T	C	12: 40,686,158 (GRCm39)	V131A	probably benign	Het
Dpysl2	A	G	14: 67,099,982 (GRCm39)	S85P	probably benign	Het
Dync1i2	A	G	2: 71,078,283 (GRCm39)	H324R	probably benign	Het
Elf1	A	G	14: 79,804,710 (GRCm39)	D162G	probably benign	Het
Eri3	G	A	4: 117,506,604 (GRCm39)		probably null	Het
Fbxl21	T	C	13: 56,680,145 (GRCm39)	S203P	probably damaging	Het
Foxi1	G	A	11: 34,155,758 (GRCm39)	R291C	probably damaging	Het
Gprin3	C	T	6: 59,332,128 (GRCm39)	A60T	possibly damaging	Het
Hecw1	A	G	13: 14,491,118 (GRCm39)	C212R	probably benign	Het
Hivep3	T	C	4: 119,954,318 (GRCm39)	L878P	probably damaging	Het
Hs6st3	A	T	14: 119,376,514 (GRCm39)	N230Y	probably damaging	Het
Htr3b	A	G	9: 48,848,441 (GRCm39)	V268A	possibly damaging	Het
Ip6k3	T	C	17: 27,363,969 (GRCm39)	T360A	probably damaging	Het
Izumo1	A	G	7: 45,275,536 (GRCm39)	T282A	probably benign	Het
Kidins220	T	A	12: 25,086,623 (GRCm39)	I1019N	probably damaging	Het
Med13l	T	C	5: 118,880,037 (GRCm39)	V1043A	probably benign	Het
Mon2	C	T	10: 122,871,358 (GRCm39)	V420I	probably benign	Het
Naip6	T	A	13: 100,436,708 (GRCm39)	Y605F	possibly damaging	Het
Nek7	A	G	1: 138,414,793 (GRCm39)	I285T	probably benign	Het
Notch3	A	G	17: 32,375,351 (GRCm39)	V357A	possibly damaging	Het
Nrxn1	G	A	17: 91,396,192 (GRCm39)		probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or2w4	C	T	13: 21,795,297 (GRCm39)	V281M	possibly damaging	Het
Or4a67	G	A	2: 88,598,308 (GRCm39)	A117V	probably damaging	Het
Or5g9	T	A	2: 85,551,818 (GRCm39)	L23Q	probably damaging	Het
Or6c74	T	G	10: 129,870,083 (GRCm39)	M196R	possibly damaging	Het
Ostm1	C	T	10: 42,559,268 (GRCm39)	A176V	probably null	Het
Pabpc6	C	A	17: 9,887,357 (GRCm39)	S398I	possibly damaging	Het
Pcdhac2	C	A	18: 37,277,239 (GRCm39)	P73H	possibly damaging	Het
Pcdhga9	A	G	18: 37,872,184 (GRCm39)	D671G	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pigu	A	C	2: 155,143,160 (GRCm39)	L248R	possibly damaging	Het
Pon3	T	C	6: 5,221,664 (GRCm39)	N322S	possibly damaging	Het
Pramel23	T	G	4: 143,425,002 (GRCm39)	H147P	probably benign	Het
Rnft1	A	G	11: 86,382,586 (GRCm39)	I270V	probably benign	Het
Scgb2b11	A	G	7: 31,910,006 (GRCm39)	F27L	probably damaging	Het
Slc5a4b	C	T	10: 75,910,943 (GRCm39)	V298I	probably damaging	Het
Slco1a6	T	A	6: 142,048,745 (GRCm39)	H345L	probably benign	Het
Sox1	C	T	8: 12,447,405 (GRCm39)	P349S	possibly damaging	Het
Spata31	A	G	13: 65,068,913 (GRCm39)	N354D	probably benign	Het
Speg	T	C	1: 75,383,414 (GRCm39)		probably null	Het
Stpg1	T	C	4: 135,261,033 (GRCm39)	I281T	probably benign	Het
Sult3a1	T	C	10: 33,753,283 (GRCm39)	L193P	probably damaging	Het
Tenm3	A	T	8: 48,745,271 (GRCm39)	C1097S	probably damaging	Het
Tfap2a	A	G	13: 40,883,523 (GRCm39)	S7P	probably benign	Het
Tlr1	T	C	5: 65,083,021 (GRCm39)	I519V	probably benign	Het
Tmem238	A	G	7: 4,792,072 (GRCm39)	V157A	possibly damaging	Het
Tmem45b	A	T	9: 31,345,780 (GRCm39)		probably null	Het
Togaram2	A	T	17: 72,021,761 (GRCm39)	H742L	probably benign	Het
Trpc7	A	T	13: 56,937,487 (GRCm39)	Y656*	probably null	Het
Wdr35	T	A	12: 9,072,785 (GRCm39)	Y920N	probably damaging	Het
Xab2	G	A	8: 3,668,117 (GRCm39)	R154C	possibly damaging	Het
Zfp759	A	T	13: 67,288,177 (GRCm39)	H576L	possibly damaging	Het
Zfp958	G	T	8: 4,678,481 (GRCm39)	A169S	probably benign	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
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'- AAGAATCTGTGCCTCAGTCC -3'
(R):5'- TGAATGTCGGAATGCACGCG -3'

Sequencing Primer
(F):5'- TGTGCCTCAGTCCCCCAAG -3'
(R):5'- GACCCGAGCCTTTAGTACCAG -3'

Posted On

2019-08-23