Mutagenetix > Incidental Mutation

Incidental Mutation 'R1961:Pot1b'

317983

Institutional Source

Beutler Lab

Gene Symbol

Pot1b

Ensembl Gene

ENSMUSG00000024174

Gene Name

protection of telomeres 1B

Synonyms

2810458H16Rik

MMRRC Submission

039975-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55958951-56019628 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55969531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 546 (Y546N)

Ref Sequence

ENSEMBL: ENSMUSP00000084089 (fasta)

Gene Model

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

AlphaFold

H7BX60

Predicted Effect

probably damaging
Transcript: ENSMUST00000086876
AA Change: Y546N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084089
Gene: ENSMUSG00000024174
AA Change: Y546N

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

Meta Mutation Damage Score

0.1788

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

99% (93/94)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,214,257 (GRCm39)	Y191H	probably damaging	Het
Abcc4	C	A	14: 118,848,871 (GRCm39)	V494L	possibly damaging	Het
Abcc4	C	A	14: 118,848,868 (GRCm39)	G495C	probably damaging	Het
Acsm4	T	C	7: 119,307,963 (GRCm39)	Y367H	probably benign	Het
Adam21	A	T	12: 81,606,282 (GRCm39)	Y493*	probably null	Het
Add2	T	C	6: 86,073,738 (GRCm39)	F209S	probably damaging	Het
Adgre4	T	C	17: 56,098,497 (GRCm39)	S136P	probably benign	Het
Aff4	T	G	11: 53,263,826 (GRCm39)	L282R	probably damaging	Het
Akt3	A	G	1: 176,924,561 (GRCm39)	I178T	probably damaging	Het
Ap3m1	T	C	14: 21,091,083 (GRCm39)	Y174C	probably damaging	Het
Arb2a	C	A	13: 78,050,839 (GRCm39)	H50N	probably benign	Het
Atl1	A	G	12: 70,000,274 (GRCm39)	E308G	probably benign	Het
Atp8b5	T	G	4: 43,369,688 (GRCm39)	V942G	probably damaging	Het
B3gntl1	A	G	11: 121,535,351 (GRCm39)		probably null	Het
Btrc	T	G	19: 45,515,782 (GRCm39)	I480S	probably damaging	Het
Cacna1c	A	T	6: 118,607,283 (GRCm39)	I1366N	probably benign	Het
Ccdc113	T	A	8: 96,267,459 (GRCm39)	N141K	probably benign	Het
Ccdc167	T	C	17: 29,923,405 (GRCm39)	N77D	possibly damaging	Het
Ccser1	T	C	6: 61,290,630 (GRCm39)		probably benign	Het
Cenpe	A	G	3: 134,948,254 (GRCm39)	E1230G	probably damaging	Het
Clec12a	A	C	6: 129,327,444 (GRCm39)	T21P	possibly damaging	Het
Cyp26c1	T	A	19: 37,675,825 (GRCm39)	F230I	probably damaging	Het
Exog	A	G	9: 119,281,332 (GRCm39)	E190G	possibly damaging	Het
Fam162b	A	G	10: 51,466,430 (GRCm39)	W30R	probably benign	Het
Fndc3b	G	A	3: 27,510,600 (GRCm39)	Q841*	probably null	Het
Frzb	T	A	2: 80,254,945 (GRCm39)	Y197F	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gabrb1	G	A	5: 71,857,679 (GRCm39)	R43Q	probably benign	Het
Gm21060	A	T	19: 61,285,445 (GRCm39)	H21Q	possibly damaging	Het
Gm4825	A	G	15: 85,395,245 (GRCm39)		noncoding transcript	Het
Gm5581	A	C	6: 131,145,125 (GRCm39)		noncoding transcript	Het
Gm9894	T	C	13: 67,912,034 (GRCm39)		noncoding transcript	Het
Gpr15	T	A	16: 58,538,370 (GRCm39)	I240L	probably benign	Het
Gria4	A	T	9: 4,519,546 (GRCm39)		probably benign	Het
Grid2	T	C	6: 63,885,877 (GRCm39)	L91S	probably damaging	Het
Igsf5	A	C	16: 96,179,551 (GRCm39)	T215P	probably damaging	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kif27	T	G	13: 58,440,937 (GRCm39)	R1159S	probably benign	Het
Kifc2	T	A	15: 76,547,025 (GRCm39)	L226H	probably damaging	Het
Klf10	T	C	15: 38,296,240 (GRCm39)	H435R	probably damaging	Het
Masp1	T	C	16: 23,271,682 (GRCm39)	Y623C	probably damaging	Het
Megf10	T	A	18: 57,345,426 (GRCm39)	C118S	probably damaging	Het
Mical3	A	G	6: 120,959,568 (GRCm39)	V909A	possibly damaging	Het
Mmrn2	A	G	14: 34,120,432 (GRCm39)		probably null	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Nmi	A	T	2: 51,838,632 (GRCm39)	S301T	probably benign	Het
Nr2f2	G	T	7: 70,007,903 (GRCm39)	T193K	possibly damaging	Het
Ntng2	T	C	2: 29,087,110 (GRCm39)	N404S	probably damaging	Het
Nup50l	A	G	6: 96,142,250 (GRCm39)	S265P	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or1x2	T	G	11: 50,918,302 (GRCm39)	S158A	probably benign	Het
Or52e3	T	C	7: 102,869,204 (GRCm39)	V93A	probably benign	Het
Otoa	T	A	7: 120,717,792 (GRCm39)	D336E	probably benign	Het
Pde4b	A	G	4: 102,454,657 (GRCm39)	E108G	probably damaging	Het
Pdgfrb	G	A	18: 61,194,577 (GRCm39)	R118H	possibly damaging	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pla2g3	C	T	11: 3,440,983 (GRCm39)	T316I	probably benign	Het
Plekhg4	A	G	8: 106,108,096 (GRCm39)	E982G	probably damaging	Het
Pmfbp1	T	G	8: 110,256,776 (GRCm39)		probably benign	Het
Pphln1-ps1	T	A	16: 13,495,592 (GRCm39)	H230Q	probably benign	Het
Rab11fip5	C	A	6: 85,325,973 (GRCm39)	Q144H	possibly damaging	Het
Reep3	A	T	10: 66,875,278 (GRCm39)		probably null	Het
Rgl2	T	C	17: 34,152,589 (GRCm39)	L400P	probably damaging	Het
Rnf122	A	G	8: 31,614,874 (GRCm39)		probably benign	Het
Scgb1b21	G	T	7: 33,226,803 (GRCm39)		noncoding transcript	Het
Sec63	A	T	10: 42,699,882 (GRCm39)	K647N	probably damaging	Het
Sema4a	C	T	3: 88,345,483 (GRCm39)		probably benign	Het
Serpinf1	C	T	11: 75,307,245 (GRCm39)	V31I	probably benign	Het
Sez6l	C	T	5: 112,572,481 (GRCm39)		probably benign	Het
Shank3	T	C	15: 89,442,167 (GRCm39)	S1612P	possibly damaging	Het
Slc19a3	G	A	1: 83,000,519 (GRCm39)	T166M	probably benign	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Slc38a11	A	T	2: 65,160,683 (GRCm39)	F304I	possibly damaging	Het
Slitrk1	T	A	14: 109,149,622 (GRCm39)	N363I	probably damaging	Het
Slx4ip	A	G	2: 136,909,601 (GRCm39)	T129A	probably benign	Het
Spop	T	C	11: 95,382,537 (GRCm39)	V332A	possibly damaging	Het
Sptlc1	A	C	13: 53,512,916 (GRCm39)	D147E	probably benign	Het
Tnpo1	T	C	13: 98,989,440 (GRCm39)	Y754C	probably damaging	Het
Tox	C	A	4: 6,688,886 (GRCm39)	V493L	probably damaging	Het
Ttbk1	A	C	17: 46,791,150 (GRCm39)	F45V	probably damaging	Het
Ttc27	T	A	17: 75,087,851 (GRCm39)	M472K	probably damaging	Het
Ttll7	A	G	3: 146,621,550 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,552,104 (GRCm39)	C22851S	probably benign	Het
Ttn	T	A	2: 76,628,556 (GRCm39)	M14535L	possibly damaging	Het
Txlna	T	C	4: 129,534,055 (GRCm39)	T54A	probably benign	Het
Usp33	T	C	3: 152,086,265 (GRCm39)	V668A	probably damaging	Het
Vmn2r28	C	A	7: 5,484,070 (GRCm39)	C710F	possibly damaging	Het
Vmn2r8	T	A	5: 108,945,961 (GRCm39)	M549L	probably benign	Het
Vwa5b2	T	C	16: 20,420,941 (GRCm39)		probably null	Het
Wnk1	T	C	6: 119,946,208 (GRCm39)	I648M	probably damaging	Het

Other mutations in Pot1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Pot1b	APN	17	56,002,160 (GRCm39)	missense	possibly damaging	0.94
IGL01796:Pot1b	APN	17	55,976,750 (GRCm39)	missense	possibly damaging	0.53
IGL01810:Pot1b	APN	17	55,969,521 (GRCm39)	missense	possibly damaging	0.68
IGL02371:Pot1b	APN	17	56,002,092 (GRCm39)	missense	possibly damaging	0.91
IGL02553:Pot1b	APN	17	56,002,024 (GRCm39)	splice site	probably benign
IGL02957:Pot1b	APN	17	56,007,009 (GRCm39)	missense	probably damaging	0.99
IGL02975:Pot1b	APN	17	55,969,454 (GRCm39)	splice site	probably benign
IGL03172:Pot1b	APN	17	56,002,206 (GRCm39)	missense	possibly damaging	0.60
boulder	UTSW	17	55,979,865 (GRCm39)	nonsense	probably null
erosion	UTSW	17	55,994,834 (GRCm39)	missense	probably damaging	0.99
G1Funyon:Pot1b	UTSW	17	55,994,895 (GRCm39)	missense	probably benign
R0020:Pot1b	UTSW	17	55,960,429 (GRCm39)	missense	probably benign	0.03
R0540:Pot1b	UTSW	17	55,972,765 (GRCm39)	missense	probably damaging	0.98
R0607:Pot1b	UTSW	17	55,972,765 (GRCm39)	missense	probably damaging	0.98
R0882:Pot1b	UTSW	17	55,973,400 (GRCm39)	splice site	probably benign
R1164:Pot1b	UTSW	17	55,981,085 (GRCm39)	missense	probably benign	0.18
R1476:Pot1b	UTSW	17	55,960,451 (GRCm39)	missense	possibly damaging	0.73
R1874:Pot1b	UTSW	17	55,961,805 (GRCm39)	missense	probably benign
R1955:Pot1b	UTSW	17	55,981,067 (GRCm39)	missense	possibly damaging	0.73
R1960:Pot1b	UTSW	17	55,969,531 (GRCm39)	missense	probably damaging	0.99
R2109:Pot1b	UTSW	17	55,960,413 (GRCm39)	missense	probably benign	0.00
R2895:Pot1b	UTSW	17	55,994,939 (GRCm39)	missense	probably damaging	0.98
R2943:Pot1b	UTSW	17	55,981,058 (GRCm39)	missense	probably benign
R4681:Pot1b	UTSW	17	55,961,831 (GRCm39)	missense	probably benign	0.28
R4763:Pot1b	UTSW	17	56,002,160 (GRCm39)	missense	possibly damaging	0.94
R4821:Pot1b	UTSW	17	55,979,885 (GRCm39)	missense	possibly damaging	0.73
R5079:Pot1b	UTSW	17	55,976,801 (GRCm39)	missense	probably benign	0.18
R5146:Pot1b	UTSW	17	55,979,865 (GRCm39)	nonsense	probably null
R5176:Pot1b	UTSW	17	56,006,995 (GRCm39)	missense	probably benign	0.05
R5394:Pot1b	UTSW	17	56,007,063 (GRCm39)	missense	probably benign	0.19
R5752:Pot1b	UTSW	17	55,994,834 (GRCm39)	missense	probably damaging	0.99
R6866:Pot1b	UTSW	17	55,960,474 (GRCm39)	missense	possibly damaging	0.83
R8301:Pot1b	UTSW	17	55,994,895 (GRCm39)	missense	probably benign
R8390:Pot1b	UTSW	17	55,999,739 (GRCm39)	missense	probably benign	0.00
R8750:Pot1b	UTSW	17	55,973,537 (GRCm39)	missense	probably benign
R9042:Pot1b	UTSW	17	56,006,991 (GRCm39)	critical splice donor site	probably null
R9564:Pot1b	UTSW	17	55,969,465 (GRCm39)	missense	possibly damaging	0.92
R9565:Pot1b	UTSW	17	55,969,465 (GRCm39)	missense	possibly damaging	0.92
R9611:Pot1b	UTSW	17	56,006,995 (GRCm39)	missense	probably benign	0.05
R9727:Pot1b	UTSW	17	55,999,795 (GRCm39)	missense	possibly damaging	0.92
RF014:Pot1b	UTSW	17	55,981,106 (GRCm39)	missense	probably benign	0.12
X0062:Pot1b	UTSW	17	56,002,154 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGCTTAAAAGGTCTGGATAAGTCACC -3'
(R):5'- TGGCAGCTTTCATAAATTGATCCTG -3'

Sequencing Primer
(F):5'- GGTCTGGATAAGTCACCATGAAG -3'
(R):5'- TGATCCTGGAGAAGAAAGCTTTC -3'

Posted On

2015-05-19