Mutagenetix > Incidental Mutation

Incidental Mutation 'R1164:Pot1b'

100877

Institutional Source

Beutler Lab

Gene Symbol

Pot1b

Ensembl Gene

ENSMUSG00000024174

Gene Name

protection of telomeres 1B

Synonyms

MMRRC Submission

039237-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55652025-55712628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 55674085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 310 (S310A)

Ref Sequence

ENSEMBL: ENSMUSP00000084089 (fasta)

Gene Model

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

AlphaFold

H7BX60

Predicted Effect

probably benign
Transcript: ENSMUST00000086876
AA Change: S310A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000084089
Gene: ENSMUSG00000024174
AA Change: S310A

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

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,402,331	M1055K	probably damaging	Het
Adprh	A	T	16: 38,450,340	D34E	probably benign	Het
Aldh1a1	A	T	19: 20,617,946	M80L	probably benign	Het
Arap2	T	A	5: 62,683,477	D682V	probably damaging	Het
Atp4a	T	A	7: 30,717,692	L500Q	probably benign	Het
Atp6v1c2	T	C	12: 17,308,316	E10G	probably damaging	Het
B4galt2	G	A	4: 117,876,944	R299W	possibly damaging	Het
Brinp1	A	C	4: 68,798,691	S307A	probably benign	Het
Cacna2d1	G	A	5: 16,361,876		probably null	Het
Ccdc3	T	C	2: 5,141,266	V137A	possibly damaging	Het
Ccnb1ip1	T	C	14: 50,792,137	K156R	possibly damaging	Het
Cfap77	A	T	2: 28,962,688	W191R	probably damaging	Het
Chga	A	G	12: 102,563,045	E427G	probably damaging	Het
Chrnd	A	T	1: 87,192,545	Y32F	probably benign	Het
Cks1b	C	A	3: 89,415,942		probably benign	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Dip2a	C	A	10: 76,276,397	R1098L	possibly damaging	Het
Dmbx1	T	A	4: 115,918,258	H275L	probably damaging	Het
Dmrt2	A	G	19: 25,677,993	M319V	possibly damaging	Het
Dock8	A	G	19: 25,090,027	Y345C	probably benign	Het
Dpp6	A	G	5: 27,721,105	T668A	probably benign	Het
Eef1d	A	G	15: 75,902,677		probably null	Het
Epb41l3	A	G	17: 69,274,767	T568A	possibly damaging	Het
Erc2	A	G	14: 28,302,972	R603G	probably damaging	Het
Fam83d	T	C	2: 158,783,250	S254P	probably damaging	Het
Fcgr4	A	T	1: 171,029,170	H202L	possibly damaging	Het
Gm38394	G	A	1: 133,659,203	T132I	probably damaging	Het
Gm4922	C	T	10: 18,783,721	A418T	possibly damaging	Het
Kmo	A	G	1: 175,658,559	H416R	probably benign	Het
Lao1	A	G	4: 118,965,405	N174S	probably benign	Het
Lrwd1	A	T	5: 136,130,990	H406Q	probably benign	Het
Magoh	A	G	4: 107,887,262	I143V	probably benign	Het
Mpz	A	G	1: 171,158,439	H49R	possibly damaging	Het
Nav1	T	C	1: 135,472,410	N474S	probably benign	Het
Ndufb10	T	G	17: 24,722,783	E68D	probably benign	Het
Obscn	T	C	11: 59,036,087	D5534G	possibly damaging	Het
Olfr1076	C	A	2: 86,508,684	T75K	probably damaging	Het
Olfr126	T	A	17: 37,850,684	F31I	probably damaging	Het
Olfr1425	A	T	19: 12,074,241	Y130*	probably null	Het
Olfr159	T	C	4: 43,770,991	T7A	probably benign	Het
Olfr345	A	T	2: 36,640,120	Y27F	probably benign	Het
Olfr685	A	T	7: 105,180,833	F160Y	probably benign	Het
Padi1	A	T	4: 140,832,329	V79E	possibly damaging	Het
Pdha2	A	G	3: 141,211,499	Y83H	probably damaging	Het
Phpt1	A	G	2: 25,574,715	I42T	probably damaging	Het
Ptpn13	G	A	5: 103,489,773	V176I	probably damaging	Het
Ptprf	A	G	4: 118,257,492	S189P	probably damaging	Het
Rere	A	T	4: 150,534,884	Q381L	unknown	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Scn8a	G	A	15: 101,040,162	C1804Y	probably benign	Het
Sema3c	G	A	5: 17,678,314	D307N	probably benign	Het
Siah2	T	C	3: 58,676,316	E183G	probably benign	Het
Smarca5	G	A	8: 80,710,631	L699F	probably damaging	Het
Smo	T	A	6: 29,754,719	S263T	probably benign	Het
Sox2	A	G	3: 34,650,699	E95G	probably damaging	Het
T	T	C	17: 8,439,939	S171P	probably benign	Het
Tmc7	G	T	7: 118,542,024	A628D	probably benign	Het
Tmem45a2	A	G	16: 57,049,426	S52P	probably damaging	Het
Tubb3	C	T	8: 123,421,447	A373V	probably damaging	Het
Uhrf1bp1	T	C	17: 27,895,380		probably null	Het
Upp2	A	G	2: 58,763,704	Y69C	probably damaging	Het
Utp4	A	G	8: 106,900,844		probably null	Het
Vmn1r59	T	A	7: 5,454,411	M117L	probably benign	Het
Xkr8	T	C	4: 132,732,411	S19G	probably benign	Het
Zbtb24	T	C	10: 41,464,527	Y518H	probably damaging	Het
Zfp324	T	C	7: 12,971,624	I580T	probably benign	Het
Zfp995	G	A	17: 21,879,979	H425Y	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
IGL01796:Pot1b	APN	17	55669750	missense	possibly damaging	0.53
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
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

Predicted Primers

Posted On

2014-01-15