Mutagenetix > Incidental Mutation

Incidental Mutation 'R1300:Pinx1'

158328

Institutional Source

Beutler Lab

Gene Symbol

Pinx1

Ensembl Gene

ENSMUSG00000021958

Gene Name

PIN2/TERF1 interacting, telomerase inhibitor 1

Synonyms

2610028A01Rik, LPTS, 2210403I16Rik

MMRRC Submission

039366-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1300 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64097813-64157308 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64156859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 262 (E262G)

Ref Sequence

ENSEMBL: ENSMUSP00000022528 (fasta)

Gene Model

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

AlphaFold

Q9CZX5

Predicted Effect

probably benign
Transcript: ENSMUST00000022528
AA Change: E262G

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022528
Gene: ENSMUSG00000021958
AA Change: E262G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225564

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225644

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,283,967 (GRCm39)	I2535T	probably damaging	Het
Adam34l	A	T	8: 44,079,881 (GRCm39)	Y114*	probably null	Het
Ank3	A	G	10: 69,840,495 (GRCm39)	I952V	probably benign	Het
Ankar	A	C	1: 72,682,323 (GRCm39)	V1414G	probably benign	Het
Arl2	A	G	19: 6,191,103 (GRCm39)	M10T	probably benign	Het
Arpp21	A	G	9: 111,972,442 (GRCm39)	I352T	probably damaging	Het
Cacna1e	T	A	1: 154,274,419 (GRCm39)	H2162L	probably benign	Het
Cep170b	A	C	12: 112,703,691 (GRCm39)	M622L	probably benign	Het
Cped1	T	C	6: 22,119,552 (GRCm39)	V337A	probably benign	Het
Cpn2	T	A	16: 30,078,481 (GRCm39)	T407S	probably benign	Het
Cpne4	T	C	9: 104,870,333 (GRCm39)	W263R	probably damaging	Het
Crtc1	A	G	8: 70,840,189 (GRCm39)		probably null	Het
Cspg4b	T	C	13: 113,502,694 (GRCm39)	F133S	probably damaging	Het
Dennd5a	A	T	7: 109,518,614 (GRCm39)	I485N	probably benign	Het
Dnah6	T	C	6: 73,101,692 (GRCm39)	Q1892R	probably benign	Het
Dse	G	A	10: 34,028,411 (GRCm39)	A893V	probably benign	Het
Dsg1a	T	G	18: 20,465,206 (GRCm39)	S466A	probably benign	Het
Dstyk	T	C	1: 132,377,651 (GRCm39)	V419A	probably benign	Het
Eif2ak4	T	C	2: 118,294,464 (GRCm39)	V1125A	possibly damaging	Het
Ep400	C	A	5: 110,821,426 (GRCm39)	G2576C	probably damaging	Het
Eps15l1	A	T	8: 73,145,746 (GRCm39)	D162E	probably damaging	Het
Fstl4	C	A	11: 52,959,454 (GRCm39)	T165N	probably benign	Het
Gm8674	T	C	13: 50,055,758 (GRCm39)		noncoding transcript	Het
Gtsf2	T	A	15: 103,352,780 (GRCm39)	L39F	possibly damaging	Het
Hck	A	C	2: 152,976,067 (GRCm39)	D202A	possibly damaging	Het
Il12b	T	A	11: 44,298,903 (GRCm39)		probably null	Het
Irf4	T	C	13: 30,941,568 (GRCm39)	L307P	probably damaging	Het
Keg1	G	A	19: 12,696,368 (GRCm39)	R184Q	probably damaging	Het
Kmt2c	T	C	5: 25,610,452 (GRCm39)	D218G	probably damaging	Het
Map1b	T	C	13: 99,569,029 (GRCm39)	K1231E	unknown	Het
Mapkbp1	T	C	2: 119,844,136 (GRCm39)	Y293H	probably benign	Het
Mfsd8	A	T	3: 40,778,333 (GRCm39)	D310E	probably benign	Het
Mmp9	A	T	2: 164,790,876 (GRCm39)	D88V	probably damaging	Het
Muc5ac	G	T	7: 141,370,666 (GRCm39)	C2522F	possibly damaging	Het
Myo1e	A	T	9: 70,209,065 (GRCm39)	I110F	probably damaging	Het
Neu1	A	T	17: 35,153,314 (GRCm39)	Y279F	possibly damaging	Het
Nhsl1	A	G	10: 18,284,209 (GRCm39)	H50R	probably benign	Het
Nlrp3	C	T	11: 59,446,594 (GRCm39)	S780F	possibly damaging	Het
Npc1l1	T	G	11: 6,177,859 (GRCm39)	D517A	probably damaging	Het
Or14c43	T	C	7: 86,114,951 (GRCm39)	F111L	probably benign	Het
Or1e32	T	C	11: 73,705,072 (GRCm39)	T279A	probably benign	Het
Or2z2	T	C	11: 58,346,667 (GRCm39)	Y36C	probably damaging	Het
Or52e3	G	A	7: 102,869,324 (GRCm39)	R133Q	probably benign	Het
P3h2	C	A	16: 25,815,986 (GRCm39)	E176*	probably null	Het
Parp10	C	A	15: 76,126,190 (GRCm39)	D333Y	possibly damaging	Het
Pcdhb12	C	T	18: 37,570,450 (GRCm39)	A532V	possibly damaging	Het
Pde2a	A	T	7: 101,159,611 (GRCm39)	T818S	possibly damaging	Het
Phf11	A	T	14: 59,488,563 (GRCm39)	V78D	probably damaging	Het
Phip	A	T	9: 82,758,800 (GRCm39)	L1450Q	probably benign	Het
Ppargc1a	T	C	5: 51,706,014 (GRCm39)	E19G	probably damaging	Het
Pum1	T	C	4: 130,493,272 (GRCm39)	I921T	probably damaging	Het
Rgs22	T	A	15: 36,101,908 (GRCm39)	H106L	probably benign	Het
Slc10a6	T	C	5: 103,754,550 (GRCm39)	D327G	probably benign	Het
Syt1	A	T	10: 108,467,682 (GRCm39)	V205D	possibly damaging	Het
Tep1	C	T	14: 51,064,512 (GRCm39)		probably null	Het
Thnsl2	T	A	6: 71,111,175 (GRCm39)	Q231L	probably damaging	Het
Ttc4	T	A	4: 106,524,763 (GRCm39)	H304L	probably damaging	Het
Unc5c	G	A	3: 141,534,304 (GRCm39)	V923M	possibly damaging	Het
Zfp777	T	C	6: 48,002,704 (GRCm39)	E506G	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
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
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'- TCTGACCTTTCAGAGACCCCTGTTG -3'
(R):5'- GCATGTTAAAAGATGCTGAGCCACC -3'

Sequencing Primer
(F):5'- TTTCAGAGACCCCTGTTGAAAGG -3'
(R):5'- TGGAGGCCACAAGTTATCTG -3'

Posted On

2014-02-18