Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01810:Pot1b'

155789

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 #

IGL01810

Quality Score

Status

Chromosome

Chromosomal Location

55652025-55712628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55662521 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 549 (V549A)

Ref Sequence

ENSEMBL: ENSMUSP00000084089 (fasta)

Gene Model

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

AlphaFold

H7BX60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086876
AA Change: V549A

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000084089
Gene: ENSMUSG00000024174
AA Change: V549A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157874

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	G	T	11: 101,417,359	Y10*	probably null	Het
Aass	C	A	6: 23,107,634	Q383H	probably damaging	Het
Bag1	T	C	4: 40,936,657	D333G	probably damaging	Het
Cap2	A	G	13: 46,639,949		probably benign	Het
Col27a1	G	T	4: 63,225,631	A519S	probably benign	Het
Cr2	A	G	1: 195,159,595	V726A	possibly damaging	Het
Csmd2	A	G	4: 128,480,845		probably benign	Het
Dennd4c	A	G	4: 86,799,551	D595G	possibly damaging	Het
Ercc2	G	T	7: 19,393,449	R340L	probably damaging	Het
Espl1	A	G	15: 102,298,205	T35A	probably benign	Het
Fndc3a	A	G	14: 72,566,141	Y525H	probably benign	Het
Gm4922	T	C	10: 18,784,047	Q309R	probably benign	Het
Gm5263	T	C	1: 146,420,554		noncoding transcript	Het
Gm6563	A	C	19: 23,676,387	R180S	probably damaging	Het
Gpr182	C	A	10: 127,750,864	V73F	probably damaging	Het
Gramd1b	C	T	9: 40,315,773	R179H	probably damaging	Het
Hk1	C	T	10: 62,353,105	A10T	probably benign	Het
Hmgn3	C	A	9: 83,110,384		probably benign	Het
Il1b	C	T	2: 129,369,729	E24K	probably damaging	Het
Itgb6	G	T	2: 60,627,985	Q475K	probably benign	Het
Lrrc74b	A	G	16: 17,545,558	S368P	probably benign	Het
Mfsd2b	T	C	12: 4,866,469	T234A	possibly damaging	Het
Muc6	A	T	7: 141,651,062	Y270N	probably damaging	Het
Naip6	A	G	13: 100,288,095		probably benign	Het
Olfr142	A	T	2: 90,252,132	Y285*	probably null	Het
Pear1	G	A	3: 87,752,301	T742I	probably damaging	Het
Peli2	G	A	14: 48,256,034	V238I	probably benign	Het
Pira2	A	G	7: 3,844,612	L26P	probably damaging	Het
Prdm16	T	C	4: 154,347,927	Y295C	probably benign	Het
Ptprd	A	T	4: 76,140,507		probably benign	Het
Rap1gap	A	T	4: 137,716,155	M145L	probably benign	Het
Setd7	A	T	3: 51,532,967		probably benign	Het
Ssx2ip	T	C	3: 146,428,010	I258T	probably benign	Het
Stard9	T	C	2: 120,699,084	Y1941H	possibly damaging	Het
Stxbp3	T	C	3: 108,800,152	E420G	probably benign	Het
Tpra1	T	C	6: 88,909,342	V101A	probably damaging	Het
Tpx2	G	T	2: 152,884,235	Q373H	probably damaging	Het
Ttn	C	T	2: 76,727,008	R29914Q	probably damaging	Het
Ubr3	T	C	2: 70,003,465		probably null	Het
Usp18	G	A	6: 121,253,771	G53D	probably damaging	Het
Vps13c	A	T	9: 67,955,780	H3026L	probably benign	Het
Zan	T	C	5: 137,463,626	E1097G	unknown	Het

Other mutations in Pot1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Pot1b	APN	17	55695160	missense	possibly damaging	0.94
IGL01796:Pot1b	APN	17	55669750	missense	possibly damaging	0.53
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