Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01796:Pot1b'

155369

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pot1b

Ensembl Gene

ENSMUSG00000024174

Gene Name

protection of telomeres 1B

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01796

Quality Score

Status

Chromosome

Chromosomal Location

55652025-55712628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55669750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 391 (C391S)

Ref Sequence

ENSEMBL: ENSMUSP00000084089 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086876]

AlphaFold

H7BX60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086876
AA Change: C391S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000084089
Gene: ENSMUSG00000024174
AA Change: C391S

Domain	Start	End	E-Value	Type
Telo_bind	11	141	1.74e-51	SMART
Pfam:POT1PC	152	299	7.9e-40	PFAM
low complexity region	313	333	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for one null mutation display male infertility with age, male germ cell apoptosis, hyperpigmentation, increased apoptosis in intestinal crypts, and decreased body size. Mice homozygous for a transgenic gene disruption exhibit neonatal lethality with possible stem cell defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,513,209	Y511H	probably damaging	Het
Abca7	T	G	10: 80,013,909	Y1948D	probably damaging	Het
Adgrl2	C	A	3: 148,858,975	G319V	probably damaging	Het
Adgrv1	T	A	13: 81,567,342	D909V	probably benign	Het
Anapc16	T	C	10: 59,988,757	E119G	possibly damaging	Het
C1qtnf12	T	C	4: 155,966,429	V285A	possibly damaging	Het
Cbr1	A	C	16: 93,608,231	N89T	probably damaging	Het
Cdh23	T	A	10: 60,311,137	Q2778L	probably benign	Het
Clca4c-ps	A	G	3: 144,889,579		noncoding transcript	Het
Cst9	T	C	2: 148,835,349	F47L	probably damaging	Het
Dqx1	T	C	6: 83,066,427		probably benign	Het
Dus4l	T	C	12: 31,642,795	S150G	probably benign	Het
E2f2	A	T	4: 136,180,417	K142*	probably null	Het
Eif2ak4	T	A	2: 118,446,304	H169Q	probably benign	Het
Fmo9	C	T	1: 166,663,335	A525T	probably benign	Het
Gm42878	T	C	5: 121,545,184	D6G	probably benign	Het
Igfals	A	G	17: 24,880,082	Y49C	probably damaging	Het
Iltifb	T	C	10: 118,290,164	N176S	possibly damaging	Het
Ipo7	T	C	7: 110,029,848		probably benign	Het
Itga1	T	C	13: 114,985,121	E784G	probably damaging	Het
Jcad	G	T	18: 4,672,855	E206*	probably null	Het
Kif24	A	T	4: 41,392,978		probably benign	Het
Lrrc2	T	A	9: 110,980,818		probably null	Het
Ltbp1	A	G	17: 75,227,245		probably benign	Het
Man2c1	C	T	9: 57,137,960	T451I	possibly damaging	Het
Manba	T	A	3: 135,542,389	N346K	probably damaging	Het
Nell1	T	C	7: 50,176,216		probably benign	Het
Nfat5	T	C	8: 107,367,641	V744A	probably damaging	Het
Nms	T	C	1: 38,946,111	M98T	possibly damaging	Het
Nos1	A	T	5: 117,938,274	K1120*	probably null	Het
Olfr741	C	A	14: 50,485,541	Q28K	probably benign	Het
Plekho1	C	T	3: 95,990,835	R172H	probably damaging	Het
Scn1a	G	A	2: 66,332,301		probably benign	Het
Sgce	T	G	6: 4,711,326	N149H	probably damaging	Het
Slc45a1	A	G	4: 150,643,969	W126R	probably damaging	Het
Slc9a1	G	A	4: 133,420,093		probably benign	Het
Tmem131l	T	A	3: 83,938,055	K423*	probably null	Het
Tnrc18	C	T	5: 142,764,887	E1444K	possibly damaging	Het
Tpp1	T	C	7: 105,747,650		probably benign	Het
Trip12	A	C	1: 84,728,278	S610R	probably benign	Het
Ushbp1	G	T	8: 71,387,432	A525E	probably benign	Het
Vmn2r106	A	T	17: 20,268,052	M695K	possibly damaging	Het
Vmn2r118	A	G	17: 55,608,585	I455T	probably benign	Het
Zbtb41	T	C	1: 139,442,883	F686S	probably damaging	Het

Other mutations in Pot1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Pot1b	APN	17	55695160	missense	possibly damaging	0.94
IGL01810:Pot1b	APN	17	55662521	missense	possibly damaging	0.68
IGL02371:Pot1b	APN	17	55695092	missense	possibly damaging	0.91
IGL02553:Pot1b	APN	17	55695024	splice site	probably benign
IGL02957:Pot1b	APN	17	55700009	missense	probably damaging	0.99
IGL02975:Pot1b	APN	17	55662454	splice site	probably benign
IGL03172:Pot1b	APN	17	55695206	missense	possibly damaging	0.60
boulder	UTSW	17	55672865	nonsense	probably null
erosion	UTSW	17	55687834	missense	probably damaging	0.99
G1Funyon:Pot1b	UTSW	17	55687895	missense	probably benign
R0020:Pot1b	UTSW	17	55653429	missense	probably benign	0.03
R0540:Pot1b	UTSW	17	55665765	missense	probably damaging	0.98
R0607:Pot1b	UTSW	17	55665765	missense	probably damaging	0.98
R0882:Pot1b	UTSW	17	55666400	splice site	probably benign
R1164:Pot1b	UTSW	17	55674085	missense	probably benign	0.18
R1476:Pot1b	UTSW	17	55653451	missense	possibly damaging	0.73
R1874:Pot1b	UTSW	17	55654805	missense	probably benign
R1955:Pot1b	UTSW	17	55674067	missense	possibly damaging	0.73
R1960:Pot1b	UTSW	17	55662531	missense	probably damaging	0.99
R1961:Pot1b	UTSW	17	55662531	missense	probably damaging	0.99
R2109:Pot1b	UTSW	17	55653413	missense	probably benign	0.00
R2895:Pot1b	UTSW	17	55687939	missense	probably damaging	0.98
R2943:Pot1b	UTSW	17	55674058	missense	probably benign
R4681:Pot1b	UTSW	17	55654831	missense	probably benign	0.28
R4763:Pot1b	UTSW	17	55695160	missense	possibly damaging	0.94
R4821:Pot1b	UTSW	17	55672885	missense	possibly damaging	0.73
R5079:Pot1b	UTSW	17	55669801	missense	probably benign	0.18
R5146:Pot1b	UTSW	17	55672865	nonsense	probably null
R5176:Pot1b	UTSW	17	55699995	missense	probably benign	0.05
R5394:Pot1b	UTSW	17	55700063	missense	probably benign	0.19
R5752:Pot1b	UTSW	17	55687834	missense	probably damaging	0.99
R6866:Pot1b	UTSW	17	55653474	missense	possibly damaging	0.83
R8301:Pot1b	UTSW	17	55687895	missense	probably benign
R8390:Pot1b	UTSW	17	55692739	missense	probably benign	0.00
R8750:Pot1b	UTSW	17	55666537	missense	probably benign
R9042:Pot1b	UTSW	17	55699991	critical splice donor site	probably null
R9564:Pot1b	UTSW	17	55662465	missense	possibly damaging	0.92
R9565:Pot1b	UTSW	17	55662465	missense	possibly damaging	0.92
R9611:Pot1b	UTSW	17	55699995	missense	probably benign	0.05
R9727:Pot1b	UTSW	17	55692795	missense	possibly damaging	0.92
RF014:Pot1b	UTSW	17	55674106	missense	probably benign	0.12
X0062:Pot1b	UTSW	17	55695154	missense	probably damaging	0.98

Posted On

2014-02-04