Mutagenetix > Incidental Mutation

Incidental Mutation 'R9727:Pot1b'

731125

Institutional Source

Beutler Lab

Gene Symbol

Pot1b

Ensembl Gene

ENSMUSG00000024174

Gene Name

protection of telomeres 1B

Synonyms

2810458H16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9727 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55958951-56019628 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 55999795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 210 (I210S)

Ref Sequence

ENSEMBL: ENSMUSP00000084089 (fasta)

Gene Model

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

AlphaFold

H7BX60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086876
AA Change: I210S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084089
Gene: ENSMUSG00000024174
AA Change: I210S

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: 99.7%
20x: 99.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akirin2	A	G	4: 34,565,248 (GRCm39)	Y165C	probably damaging	Het
Aox4	A	G	1: 58,286,473 (GRCm39)	I702V	probably benign	Het
Arhgef33	A	G	17: 80,678,720 (GRCm39)	Y472C	probably damaging	Het
Atp13a4	T	G	16: 29,228,589 (GRCm39)	S964R		Het
Atp1a2	T	A	1: 172,118,936 (GRCm39)	I69F	probably benign	Het
Bub1	T	C	2: 127,652,609 (GRCm39)	D586G	possibly damaging	Het
Ccdc177	C	A	12: 80,806,044 (GRCm39)	A77S	probably benign	Het
Ccdc187	A	G	2: 26,171,204 (GRCm39)	W425R	probably damaging	Het
Ccn2	A	G	10: 24,471,820 (GRCm39)	E37G	probably benign	Het
Ccsap	T	C	8: 124,572,169 (GRCm39)	D111G	possibly damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Ceacam3	C	A	7: 16,892,262 (GRCm39)	T335K		Het
Col22a1	A	T	15: 71,849,123 (GRCm39)	W322R	probably damaging	Het
Col5a2	A	G	1: 45,415,818 (GRCm39)	V1443A	possibly damaging	Het
Dnah12	C	T	14: 26,523,510 (GRCm39)	Q2000*	probably null	Het
Dock7	G	T	4: 98,875,568 (GRCm39)	T1154K	unknown	Het
Dot1l	T	C	10: 80,628,382 (GRCm39)	L1140P	unknown	Het
Dst	G	A	1: 34,314,877 (GRCm39)	V4489M	probably damaging	Het
Duox2	G	A	2: 122,116,998 (GRCm39)	R960*	probably null	Het
Elavl2	T	C	4: 91,169,495 (GRCm39)	I97V	probably benign	Het
Emp1	G	T	6: 135,358,016 (GRCm39)	A121S	probably benign	Het
Exph5	A	T	9: 53,287,702 (GRCm39)	R1594S	probably damaging	Het
Fam186b	C	T	15: 99,171,669 (GRCm39)	M859I	probably benign	Het
Fat2	A	G	11: 55,159,137 (GRCm39)	V3345A	probably damaging	Het
Gtf2f1	A	T	17: 57,318,005 (GRCm39)	N10K	possibly damaging	Het
Hid1	T	G	11: 115,245,939 (GRCm39)	K384N	probably damaging	Het
Hmcn1	T	C	1: 150,674,566 (GRCm39)	R579G	probably benign	Het
Igf1r	T	A	7: 67,857,554 (GRCm39)	V1078D	probably damaging	Het
Il20rb	A	T	9: 100,357,001 (GRCm39)	M43K	probably damaging	Het
Kdm3a	A	T	6: 71,569,094 (GRCm39)	Y1134*	probably null	Het
Kif12	T	A	4: 63,085,978 (GRCm39)	N429I	probably damaging	Het
Kif18a	C	T	2: 109,118,464 (GRCm39)	T93I	probably damaging	Het
Krtap9-5	T	A	11: 99,839,340 (GRCm39)	C14S	possibly damaging	Het
Lgals8	A	T	13: 12,462,038 (GRCm39)	M264K	possibly damaging	Het
Mlxipl	T	A	5: 135,150,388 (GRCm39)	C143*	probably null	Het
Mtcl2	T	A	2: 156,862,168 (GRCm39)	Q1587L	possibly damaging	Het
Mvp	A	T	7: 126,595,040 (GRCm39)	H268Q	probably damaging	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nos2	A	G	11: 78,843,825 (GRCm39)	Y924C	possibly damaging	Het
Or4f52	A	T	2: 111,061,961 (GRCm39)	M59K	probably damaging	Het
Phf20l1	A	G	15: 66,487,231 (GRCm39)	N449S	probably benign	Het
Ptrh1	T	A	2: 32,665,854 (GRCm39)	W5R	probably benign	Het
Rasgrp3	A	G	17: 75,810,239 (GRCm39)	H313R	probably damaging	Het
Ric1	A	T	19: 29,575,258 (GRCm39)	I984F	probably damaging	Het
Rin2	G	A	2: 145,702,506 (GRCm39)	A401T	possibly damaging	Het
Rmdn3	C	A	2: 118,968,827 (GRCm39)		probably null	Het
Senp7	A	T	16: 55,990,169 (GRCm39)	H639L	probably benign	Het
Sipa1l1	T	C	12: 82,471,829 (GRCm39)	S1270P	probably damaging	Het
Slc22a28	T	A	19: 8,108,818 (GRCm39)	E108V	probably benign	Het
Slc7a5	A	G	8: 122,613,085 (GRCm39)	I331T	probably benign	Het
Smarca4	T	C	9: 21,611,160 (GRCm39)	Y1467H	probably damaging	Het
Srebf2	T	A	15: 82,076,506 (GRCm39)	F759I	possibly damaging	Het
Thumpd2	A	T	17: 81,345,585 (GRCm39)	D304E	probably damaging	Het
Tmem59	A	G	4: 107,050,547 (GRCm39)	E226G	probably benign	Het
Trpv1	A	C	11: 73,130,347 (GRCm39)	D151A	probably damaging	Het
Txnrd3	A	G	6: 89,651,751 (GRCm39)	D607G	probably benign	Het
Ubr4	T	A	4: 139,140,735 (GRCm39)	V1218E	probably damaging	Het
Ugt2b5	T	A	5: 87,288,165 (GRCm39)	M1L	probably damaging	Het
Vwa5b2	C	T	16: 20,423,477 (GRCm39)	A1130V	probably damaging	Het
Wdr4	T	C	17: 31,718,045 (GRCm39)	E343G	probably benign	Het
Zbtb34	C	A	2: 33,301,533 (GRCm39)	R336L	probably benign	Het
Zfp607b	T	C	7: 27,403,125 (GRCm39)	V527A	probably benign	Het
Zfp949	T	A	9: 88,451,913 (GRCm39)	C494*	probably null	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
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
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'- TATGAAGGTTCTATGCCCCAGTG -3'
(R):5'- TCAAAGAATGATGGGACTTCAACG -3'

Sequencing Primer
(F):5'- CCAGTGTGGGGGAATACCAG -3'
(R):5'- TGATGGGACTTCAACGTTTAAAG -3'

Posted On

2022-10-06