Mutagenetix > Incidental Mutation

Incidental Mutation 'R6866:Pot1b'

535950

Institutional Source

Beutler Lab

Gene Symbol

Pot1b

Ensembl Gene

ENSMUSG00000024174

Gene Name

protection of telomeres 1B

Synonyms

2810458H16Rik

MMRRC Submission

044965-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55958951-56019628 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55960474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 619 (T619S)

Ref Sequence

ENSEMBL: ENSMUSP00000084089 (fasta)

Gene Model

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

AlphaFold

H7BX60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086876
AA Change: T619S

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000084089
Gene: ENSMUSG00000024174
AA Change: T619S

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,598,080 (GRCm39)	T1438A	possibly damaging	Het
Als2	T	A	1: 59,250,292 (GRCm39)	Q484L	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Bcl2l13	T	A	6: 120,839,850 (GRCm39)	N49K	probably benign	Het
Bptf	T	C	11: 106,964,406 (GRCm39)	D1596G	probably damaging	Het
Brsk1	T	C	7: 4,709,406 (GRCm39)	M325T	probably damaging	Het
Caly	T	C	7: 139,650,532 (GRCm39)	M137V	probably benign	Het
Cdca2	T	C	14: 67,931,115 (GRCm39)	E526G	possibly damaging	Het
Cnga4	A	G	7: 105,056,952 (GRCm39)	S352G	possibly damaging	Het
Cntnap5c	A	C	17: 58,399,289 (GRCm39)	T381P	probably benign	Het
Cr2	T	A	1: 194,833,999 (GRCm39)	Y633F	probably damaging	Het
Cryba1	T	C	11: 77,610,355 (GRCm39)	N120S	probably benign	Het
Cyfip2	G	A	11: 46,133,286 (GRCm39)	R805*	probably null	Het
Dnah7c	C	A	1: 46,696,403 (GRCm39)	P2095Q	probably damaging	Het
Eif3k	T	C	7: 28,676,651 (GRCm39)	E110G	possibly damaging	Het
Extl2	T	A	3: 115,821,002 (GRCm39)	M283K	probably damaging	Het
Extl2	A	G	3: 115,821,001 (GRCm39)	M283V	probably damaging	Het
Focad	T	C	4: 88,321,623 (GRCm39)	I1658T	probably benign	Het
Fstl5	A	T	3: 76,229,532 (GRCm39)	H111L	probably damaging	Het
Garnl3	A	G	2: 32,892,785 (GRCm39)		probably null	Het
Gm3633	T	A	14: 42,462,579 (GRCm39)		probably benign	Het
Il4i1	T	A	7: 44,485,963 (GRCm39)		probably null	Het
Kcnj6	A	T	16: 94,563,536 (GRCm39)	C321S	probably damaging	Het
Kif20a	A	T	18: 34,761,546 (GRCm39)	Y313F	probably benign	Het
Kmt2d	T	G	15: 98,755,274 (GRCm39)		probably benign	Het
Kynu	T	A	2: 43,453,122 (GRCm39)	Y48*	probably null	Het
Ly9	T	C	1: 171,432,847 (GRCm39)	I55M	probably damaging	Het
Mgme1	T	C	2: 144,118,439 (GRCm39)	V237A	probably damaging	Het
Mmp16	T	A	4: 17,853,800 (GRCm39)	L27H	probably benign	Het
Mtres1	ACTGCACCACCT	ACT	10: 43,408,721 (GRCm39)		probably benign	Het
Myh1	A	C	11: 67,115,219 (GRCm39)	D1918A	probably damaging	Het
Myo5a	G	A	9: 75,047,970 (GRCm39)	C266Y	probably damaging	Het
Nckap5l	A	G	15: 99,324,349 (GRCm39)	I718T	probably benign	Het
Nptx1	A	G	11: 119,437,476 (GRCm39)		probably null	Het
Or56a42-ps1	T	A	7: 104,775,825 (GRCm39)	M228L	probably benign	Het
Or5k16	A	G	16: 58,736,351 (GRCm39)	Y218H	probably damaging	Het
Or5p76	A	G	7: 108,122,377 (GRCm39)	F260S	probably damaging	Het
Phc3	T	A	3: 30,968,680 (GRCm39)	K783*	probably null	Het
Pkdrej	A	T	15: 85,705,082 (GRCm39)	C285S	probably damaging	Het
Pramel32	T	A	4: 88,545,977 (GRCm39)	D455V	probably damaging	Het
Psg21	A	T	7: 18,386,209 (GRCm39)	V259E	probably damaging	Het
Pvr	A	C	7: 19,652,555 (GRCm39)	I120S	probably benign	Het
Rbm17	T	G	2: 11,602,901 (GRCm39)	I68L	probably benign	Het
Rnf138	C	T	18: 21,135,199 (GRCm39)	P28L	probably damaging	Het
Rnf207	C	T	4: 152,396,989 (GRCm39)	C385Y	possibly damaging	Het
Serping1	A	C	2: 84,600,577 (GRCm39)	V255G	probably benign	Het
Slc25a3	A	T	10: 90,955,567 (GRCm39)	V91E	probably damaging	Het
Slc26a8	T	C	17: 28,857,455 (GRCm39)	D896G	probably benign	Het
Slc27a5	T	A	7: 12,731,443 (GRCm39)	T183S	probably benign	Het
Slc33a1	A	T	3: 63,850,744 (GRCm39)	F527I	probably benign	Het
Sting1	T	C	18: 35,872,482 (GRCm39)	H50R	probably damaging	Het
Strn4	A	T	7: 16,562,710 (GRCm39)	D283V	probably damaging	Het
Sult1e1	G	A	5: 87,734,625 (GRCm39)	T107I	probably damaging	Het
Tango6	G	A	8: 107,469,104 (GRCm39)		probably null	Het
Tecrl	G	T	5: 83,461,161 (GRCm39)	P99T	probably damaging	Het
Ticrr	T	C	7: 79,343,705 (GRCm39)	L1190P	possibly damaging	Het
Timm50	C	T	7: 28,005,370 (GRCm39)	R349H	probably damaging	Het
Tjp2	A	G	19: 24,079,355 (GRCm39)	I840T	probably damaging	Het
Tmem45a2	T	A	16: 56,867,386 (GRCm39)	N105I	probably damaging	Het
Tsbp1	T	A	17: 34,678,935 (GRCm39)	C216S	possibly damaging	Het
Zfp148	T	A	16: 33,288,496 (GRCm39)	C162S	probably damaging	Het
Zfp534	T	C	4: 147,758,938 (GRCm39)	K577R	probably benign	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
R1961: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
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'- ATTGTCACCCTGGGCATGTTG -3'
(R):5'- GCTGGCAGGTGTTTTATAAACCC -3'

Sequencing Primer
(F):5'- CACATTTCAACATATTCACAAGAAGG -3'
(R):5'- AAACCCTTAATCTCTTTCATCTGAGG -3'

Posted On

2018-10-18