Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02530:Pot1a'

297262

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pot1a

Ensembl Gene

ENSMUSG00000029676

Gene Name

protection of telomeres 1A

Synonyms

1500031H18Rik, Pot1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02530

Quality Score

Status

Chromosome

Chromosomal Location

25743737-25809246 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25794593 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 31 (F31I)

Ref Sequence

ENSEMBL: ENSMUSP00000131928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115327] [ENSMUST00000115330] [ENSMUST00000166445]

AlphaFold

Q91WC1

Predicted Effect

probably damaging
Transcript: ENSMUST00000115327
AA Change: F31I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110982
Gene: ENSMUSG00000029676
AA Change: F31I

Domain	Start	End	E-Value	Type
Telo_bind	11	141	3.6e-53	SMART
low complexity region	253	260	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115329

SMART Domains

Protein: ENSMUSP00000110984
Gene: ENSMUSG00000029676

Domain	Start	End	E-Value	Type
Telo_bind	11	141	3.6e-53	SMART
low complexity region	253	260	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115330
AA Change: F31I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110986
Gene: ENSMUSG00000029676
AA Change: F31I

Domain	Start	End	E-Value	Type
Telo_bind	11	141	3.6e-53	SMART
Pfam:POT1PC	152	299	6.7e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156985

Predicted Effect

probably damaging
Transcript: ENSMUST00000166445
AA Change: F31I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131928
Gene: ENSMUSG00000029676
AA Change: F31I

Domain	Start	End	E-Value	Type
Telo_bind	11	141	3.6e-53	SMART
low complexity region	253	260	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to complete prenatal lethality. Embryos homozygous for a gene trapped allele fail to form an inner cell mass in culture. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	T	C	7: 66,909,376	F305L	probably damaging	Het
Ankrd12	T	C	17: 65,984,403	H1345R	probably benign	Het
Bloc1s5	A	T	13: 38,603,883	M175K	probably damaging	Het
C9	T	A	15: 6,497,132	M549K	probably benign	Het
Cfap52	A	G	11: 67,954,181		probably benign	Het
Cntnap2	A	T	6: 47,021,736	K907N	possibly damaging	Het
Cox8c	T	A	12: 102,899,493		probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp26b1	A	T	6: 84,574,312	N307K	possibly damaging	Het
Cyp2s1	T	C	7: 25,816,424		probably benign	Het
Dpysl2	G	A	14: 66,824,398	T253I	probably damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Egflam	T	A	15: 7,222,812	I835F	probably damaging	Het
Eif5a	A	T	11: 69,919,163	H51Q	possibly damaging	Het
Fancd2	T	A	6: 113,562,461	I637N	probably damaging	Het
Gpr173	T	A	X: 152,347,096	H127L	probably damaging	Het
Klc3	T	C	7: 19,397,044	I203V	probably benign	Het
Lsg1	T	C	16: 30,571,242	K352E	probably benign	Het
Man2a2	G	A	7: 80,359,640	A822V	probably damaging	Het
Med12l	G	T	3: 59,077,089	D483Y	probably damaging	Het
Mlh1	A	G	9: 111,229,875	Y694H	probably benign	Het
Mmrn1	A	G	6: 60,958,176	R219G	possibly damaging	Het
Nsd1	T	C	13: 55,302,833		probably benign	Het
Olfr1080	C	T	2: 86,553,880	M81I	possibly damaging	Het
Olfr1392	A	T	11: 49,293,728	M136L	possibly damaging	Het
Pax3	A	T	1: 78,121,787	S322T	possibly damaging	Het
Pkhd1	T	A	1: 20,117,720	I3455F	probably damaging	Het
Plekhb2	T	C	1: 34,876,941	V187A	possibly damaging	Het
Rpap1	A	T	2: 119,783,239		probably benign	Het
Scmh1	T	A	4: 120,528,146		probably benign	Het
Scn2a	A	G	2: 65,730,178	T1251A	probably damaging	Het
Siglecf	T	C	7: 43,352,210	V148A	probably benign	Het
Slit3	A	G	11: 35,708,142	*1524W	probably null	Het
Son	C	A	16: 91,658,471	P1369T	possibly damaging	Het
Spp2	T	A	1: 88,411,146	L25*	probably null	Het
Sptbn4	T	C	7: 27,391,551	Q1405R	probably damaging	Het
Traf3ip2	G	T	10: 39,646,906	A463S	possibly damaging	Het
Trappc11	T	C	8: 47,507,582	E27G	probably damaging	Het
Vmn2r12	C	T	5: 109,085,992	V785I	probably damaging	Het
Zc3h8	A	G	2: 128,943,926		probably benign	Het
Zfp57	T	A	17: 37,006,164	S45T	probably damaging	Het

Other mutations in Pot1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Pot1a	APN	6	25744628	missense	probably benign	0.01
IGL01393:Pot1a	APN	6	25744631	nonsense	probably null
IGL01411:Pot1a	APN	6	25750144	splice site	probably benign
IGL01774:Pot1a	APN	6	25753277	missense	probably benign	0.00
IGL01981:Pot1a	APN	6	25750100	missense	probably damaging	1.00
IGL02404:Pot1a	APN	6	25764432	splice site	probably benign
IGL02755:Pot1a	APN	6	25771613	missense	possibly damaging	0.81
IGL03127:Pot1a	APN	6	25794616	missense	probably benign	0.00
IGL03396:Pot1a	APN	6	25745914	missense	possibly damaging	0.93
BB001:Pot1a	UTSW	6	25753310	missense	possibly damaging	0.94
BB011:Pot1a	UTSW	6	25753310	missense	possibly damaging	0.94
R0329:Pot1a	UTSW	6	25778831	splice site	probably benign
R0359:Pot1a	UTSW	6	25771680	splice site	probably benign
R0530:Pot1a	UTSW	6	25771541	missense	possibly damaging	0.86
R0840:Pot1a	UTSW	6	25748284	splice site	probably benign
R0918:Pot1a	UTSW	6	25756268	missense	possibly damaging	0.92
R1650:Pot1a	UTSW	6	25745965	missense	probably damaging	1.00
R1937:Pot1a	UTSW	6	25753324	missense	probably benign	0.15
R2142:Pot1a	UTSW	6	25750044	splice site	probably null
R4072:Pot1a	UTSW	6	25752357	splice site	probably null
R4074:Pot1a	UTSW	6	25752357	splice site	probably null
R4322:Pot1a	UTSW	6	25745930	missense	probably benign	0.02
R4895:Pot1a	UTSW	6	25753206	missense	probably damaging	1.00
R4910:Pot1a	UTSW	6	25746021	intron	probably benign
R4933:Pot1a	UTSW	6	25771541	missense	possibly damaging	0.86
R5530:Pot1a	UTSW	6	25778894	missense	probably damaging	1.00
R5748:Pot1a	UTSW	6	25758856	missense	possibly damaging	0.77
R5775:Pot1a	UTSW	6	25757298	splice site	probably null
R5870:Pot1a	UTSW	6	25778951	missense	possibly damaging	0.90
R6180:Pot1a	UTSW	6	25771621	missense	probably benign	0.00
R6377:Pot1a	UTSW	6	25778870	missense	probably benign	0.06
R7251:Pot1a	UTSW	6	25752498	splice site	probably null
R7457:Pot1a	UTSW	6	25771622	missense	probably benign	0.26
R7679:Pot1a	UTSW	6	25771634	missense	probably benign	0.16
R7717:Pot1a	UTSW	6	25758823	missense	probably benign	0.45
R7924:Pot1a	UTSW	6	25753310	missense	possibly damaging	0.94
R8078:Pot1a	UTSW	6	25750108	missense	probably benign	0.13
R8084:Pot1a	UTSW	6	25771536	missense	possibly damaging	0.81
R8170:Pot1a	UTSW	6	25758803	makesense	probably null
R9070:Pot1a	UTSW	6	25744630	missense
R9525:Pot1a	UTSW	6	25745917	missense	probably benign	0.06
R9574:Pot1a	UTSW	6	25775719	missense	possibly damaging	0.73
R9638:Pot1a	UTSW	6	25750107	nonsense	probably null
R9698:Pot1a	UTSW	6	25744616	missense	probably damaging	0.99

Posted On

2015-04-16