Mutagenetix > Incidental Mutation

Incidental Mutation 'R9564:Pot1b'

721420

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 #

R9564 (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 G at 55969465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 568 (S568P)

Ref Sequence

ENSEMBL: ENSMUSP00000084089 (fasta)

Gene Model

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

AlphaFold

H7BX60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086876
AA Change: S568P

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

SMART Domains

Protein: ENSMUSP00000084089
Gene: ENSMUSG00000024174
AA Change: S568P

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: 99.6%
20x: 98.8%

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: 135 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,104,090 (GRCm39)	N176K	possibly damaging	Het
3110009E18Rik	T	A	1: 120,097,006 (GRCm39)	V134E		Het
Abca8a	T	A	11: 109,965,010 (GRCm39)	H429L	probably benign	Het
Acsf2	T	A	11: 94,463,891 (GRCm39)	I98F	possibly damaging	Het
Actr5	A	G	2: 158,470,135 (GRCm39)	D255G	probably damaging	Het
Adam21	C	T	12: 81,605,833 (GRCm39)	C643Y	probably damaging	Het
Adcy7	TGG	TG	8: 89,053,053 (GRCm39)		probably null	Het
AI429214	A	G	8: 37,461,067 (GRCm39)	S72G	possibly damaging	Het
Akap13	T	C	7: 75,259,161 (GRCm39)	V595A	probably benign	Het
Akt3	T	C	1: 176,907,769 (GRCm39)	T209A	possibly damaging	Het
Alpk2	C	T	18: 65,439,014 (GRCm39)	G793D	probably damaging	Het
Amotl1	T	C	9: 14,473,513 (GRCm39)	K562R	possibly damaging	Het
Ankib1	T	A	5: 3,805,733 (GRCm39)	N178I	possibly damaging	Het
Arfgef1	A	T	1: 10,217,758 (GRCm39)	D1560E	probably benign	Het
Arhgap20	AAGAGAG	AAGAG	9: 51,761,413 (GRCm39)		probably null	Het
Arpc5l	A	G	2: 38,905,124 (GRCm39)	T152A	probably benign	Het
Asic3	C	G	5: 24,620,875 (GRCm39)	D252E	possibly damaging	Het
Atf7	T	A	15: 102,442,712 (GRCm39)	M466L	probably benign	Het
Bcl9l	A	G	9: 44,420,554 (GRCm39)	D1320G	probably damaging	Het
Bdkrb1	G	A	12: 105,571,078 (GRCm39)	V215I	probably benign	Het
Brpf3	T	G	17: 29,026,152 (GRCm39)	D408E	probably benign	Het
Btn2a2	C	A	13: 23,662,848 (GRCm39)	K367N	possibly damaging	Het
Btnl10	T	A	11: 58,813,189 (GRCm39)	F273I	probably benign	Het
C1qtnf12	C	T	4: 156,049,473 (GRCm39)	T145I	probably benign	Het
Cacna1s	T	C	1: 136,046,516 (GRCm39)	C1763R	probably benign	Het
Ccdc154	C	A	17: 25,387,381 (GRCm39)	Q372K	possibly damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Celsr2	T	C	3: 108,321,834 (GRCm39)	Y326C	probably damaging	Het
Cfap46	A	T	7: 139,231,471 (GRCm39)	V914E		Het
Coil	T	A	11: 88,872,626 (GRCm39)	V329E	possibly damaging	Het
Copb1	A	G	7: 113,836,034 (GRCm39)	I449T	possibly damaging	Het
Copg1	T	G	6: 87,869,683 (GRCm39)	S187R	probably damaging	Het
Cps1	T	A	1: 67,198,048 (GRCm39)	F371Y	probably benign	Het
Cpt1b	A	T	15: 89,303,472 (GRCm39)	F554L	probably damaging	Het
Ctdsp2	A	G	10: 126,832,040 (GRCm39)	D216G	probably damaging	Het
Ctla2b	A	T	13: 61,043,856 (GRCm39)	Y104*	probably null	Het
Cyp2j6	A	G	4: 96,414,245 (GRCm39)	I340T	probably damaging	Het
Ddi1	T	A	9: 6,265,730 (GRCm39)	D213V	probably damaging	Het
Degs1l	G	T	1: 180,882,810 (GRCm39)	V191F	possibly damaging	Het
Dennd2b	G	T	7: 109,125,536 (GRCm39)	D980E	probably damaging	Het
Dlgap1	T	G	17: 70,964,458 (GRCm39)	N400K	probably benign	Het
Dnah5	G	A	15: 28,290,422 (GRCm39)	V1271M	probably benign	Het
Dnah8	T	A	17: 30,932,021 (GRCm39)	V1463E	probably benign	Het
Dstyk	G	A	1: 132,362,023 (GRCm39)	R151H	probably damaging	Het
Ehd3	T	G	17: 74,137,361 (GRCm39)	V510G	probably benign	Het
Enthd1	G	T	15: 80,444,235 (GRCm39)	Q107K	probably damaging	Het
Entpd7	A	G	19: 43,705,889 (GRCm39)	E237G	probably benign	Het
Fadd	A	T	7: 144,136,048 (GRCm39)	C27S	probably damaging	Het
Fan1	A	G	7: 63,999,240 (GRCm39)	L874P	possibly damaging	Het
Fbxw17	T	C	13: 50,579,605 (GRCm39)	W141R	probably damaging	Het
Fig4	A	G	10: 41,161,387 (GRCm39)	V63A	probably benign	Het
Fmo3	T	C	1: 162,786,021 (GRCm39)	D323G	probably damaging	Het
Gas8	T	A	8: 124,263,179 (GRCm39)	V452E	possibly damaging	Het
Gdf9	T	A	11: 53,327,511 (GRCm39)	S156T	probably damaging	Het
Hlcs	T	C	16: 93,935,580 (GRCm39)	S571G	probably benign	Het
Hmox2	A	G	16: 4,582,870 (GRCm39)	Y201C	probably damaging	Het
Ikzf3	T	A	11: 98,358,032 (GRCm39)	D435V	probably damaging	Het
Kank2	T	C	9: 21,705,852 (GRCm39)	T389A	possibly damaging	Het
Kank2	A	G	9: 21,706,631 (GRCm39)	L129P	probably damaging	Het
Kdr	T	A	5: 76,125,565 (GRCm39)	K339N	probably benign	Het
Lmntd2	A	G	7: 140,790,701 (GRCm39)	S516P		Het
Lrrc37	T	C	11: 103,503,822 (GRCm39)	I2715M	unknown	Het
Lrrc40	T	A	3: 157,746,078 (GRCm39)	V51D	probably benign	Het
Lrrtm1	A	G	6: 77,221,536 (GRCm39)	N331S	probably benign	Het
Lvrn	T	G	18: 47,017,506 (GRCm39)	I612S	probably damaging	Het
Map3k3	T	A	11: 106,041,860 (GRCm39)	I413N	probably damaging	Het
Mcm9	C	T	10: 53,506,104 (GRCm39)	A57T	possibly damaging	Het
Met	T	A	6: 17,531,425 (GRCm39)	F568I	probably benign	Het
Mkx	A	G	18: 7,002,457 (GRCm39)	F30L	probably benign	Het
Mrc1	A	G	2: 14,266,117 (GRCm39)	N345S	probably benign	Het
Mstn	T	A	1: 53,103,367 (GRCm39)	N234K	probably benign	Het
Mtmr3	A	T	11: 4,440,992 (GRCm39)	S554T	possibly damaging	Het
Mug1	G	A	6: 121,861,587 (GRCm39)	V1350I	probably benign	Het
Myh8	T	C	11: 67,177,215 (GRCm39)	V427A	probably benign	Het
Nr4a2	A	T	2: 57,000,190 (GRCm39)	I365N	probably damaging	Het
Nrxn2	A	G	19: 6,559,887 (GRCm39)	D1215G	probably damaging	Het
Or2d3c	A	G	7: 106,525,847 (GRCm39)	M273T	probably benign	Het
Or6c33	T	C	10: 129,853,287 (GRCm39)	I19T	probably benign	Het
Or7g18	G	A	9: 18,786,640 (GRCm39)	V3I	probably benign	Het
Osbpl6	T	A	2: 76,426,321 (GRCm39)	W967R	probably damaging	Het
Pcdhb21	T	C	18: 37,646,972 (GRCm39)	S34P	possibly damaging	Het
Pibf1	G	T	14: 99,374,610 (GRCm39)	D350Y	possibly damaging	Het
Pira1	C	T	7: 3,742,646 (GRCm39)	V21M	possibly damaging	Het
Plekhs1	A	T	19: 56,461,628 (GRCm39)	I123F	probably damaging	Het
Pold2	C	T	11: 5,824,163 (GRCm39)	G214D	probably benign	Het
Pomc	A	G	12: 4,009,971 (GRCm39)	T71A	probably benign	Het
Prkd2	C	A	7: 16,591,744 (GRCm39)	Q592K	possibly damaging	Het
Prss28	C	T	17: 25,528,911 (GRCm39)	A84V	probably damaging	Het
Prtg	T	A	9: 72,766,153 (GRCm39)	Y649N	probably damaging	Het
Psip1	T	C	4: 83,386,888 (GRCm39)	E161G	possibly damaging	Het
Rab3gap2	A	G	1: 185,014,691 (GRCm39)	D1280G	probably damaging	Het
Rab3ip	A	T	10: 116,751,780 (GRCm39)	I329N	probably damaging	Het
Rarres2	C	T	6: 48,549,164 (GRCm39)	G13D	possibly damaging	Het
Rbp3	A	G	14: 33,677,477 (GRCm39)	D475G	probably damaging	Het
Ric3	A	G	7: 108,638,018 (GRCm39)	V246A	probably damaging	Het
Robo3	A	G	9: 37,340,900 (GRCm39)	F124S	probably damaging	Het
Rpl27a	C	A	7: 109,118,837 (GRCm39)	H17N	probably benign	Het
Rptn	A	G	3: 93,304,536 (GRCm39)	D623G	probably benign	Het
Rtl1	G	T	12: 109,556,713 (GRCm39)	Q1709K	probably benign	Het
Sacs	T	A	14: 61,449,046 (GRCm39)	D3697E	probably damaging	Het
Sec61b	A	G	4: 47,483,049 (GRCm39)	Y93C	probably damaging	Het
Serpina3a	A	T	12: 104,084,886 (GRCm39)	I94L	probably benign	Het
Skic2	C	T	17: 35,063,758 (GRCm39)	A562T	probably benign	Het
Skor2	C	T	18: 76,946,376 (GRCm39)	H33Y	unknown	Het
Slc12a3	G	A	8: 95,082,983 (GRCm39)	V874I	probably benign	Het
Slit1	T	A	19: 41,591,861 (GRCm39)	M1254L	probably benign	Het
Smg1	A	G	7: 117,812,208 (GRCm39)	S52P	unknown	Het
Sorl1	A	G	9: 41,957,893 (GRCm39)	Y584H	probably damaging	Het
Spata32	T	A	11: 103,099,779 (GRCm39)	Q242L	possibly damaging	Het
Sptbn4	T	G	7: 27,117,504 (GRCm39)	E415A	probably damaging	Het
St6galnac5	T	C	3: 152,545,782 (GRCm39)	R259G	probably damaging	Het
Stat3	T	C	11: 100,784,614 (GRCm39)	I589V	probably benign	Het
Tecta	T	A	9: 42,249,123 (GRCm39)	K1913M	probably damaging	Het
Tek	C	A	4: 94,762,172 (GRCm39)	N1103K	probably damaging	Het
Telo2	A	G	17: 25,334,199 (GRCm39)	I16T	probably benign	Het
Tmem207	G	T	16: 26,335,499 (GRCm39)	C79*	probably null	Het
Topaz1	C	T	9: 122,579,219 (GRCm39)	H710Y	probably benign	Het
Trim33	T	A	3: 103,238,965 (GRCm39)	S648T	probably benign	Het
Trpm6	A	G	19: 18,851,240 (GRCm39)	T1734A	possibly damaging	Het
Trpm8	A	G	1: 88,254,158 (GRCm39)	E127G	possibly damaging	Het
Ttc3	T	A	16: 94,248,918 (GRCm39)	C1139S	probably benign	Het
Ttn	T	C	2: 76,580,330 (GRCm39)	E23521G	probably damaging	Het
Ush2a	T	C	1: 188,268,551 (GRCm39)	I1669T	possibly damaging	Het
Vcpip1	C	A	1: 9,817,456 (GRCm39)	S309I	possibly damaging	Het
Vmn1r208	A	G	13: 22,956,789 (GRCm39)	V236A	probably damaging	Het
Vmn1r74	T	C	7: 11,581,534 (GRCm39)	F278S	probably damaging	Het
Vmn2r33	T	C	7: 7,557,081 (GRCm39)	S540G	probably benign	Het
Vmn2r52	T	C	7: 9,905,182 (GRCm39)	D219G	probably benign	Het
Wiz	G	T	17: 32,575,939 (GRCm39)	D812E	probably benign	Het
Ylpm1	C	T	12: 85,091,176 (GRCm39)	P1787S	probably benign	Het
Zan	T	C	5: 137,404,688 (GRCm39)	E3858G	unknown	Het
Zfp760	T	G	17: 21,942,272 (GRCm39)	H482Q	possibly damaging	Het
Zfp78	A	G	7: 6,381,390 (GRCm39)	T147A	probably benign	Het
Zfp808	T	A	13: 62,320,661 (GRCm39)	I630K	possibly damaging	Het
Zpld1	T	A	16: 55,061,701 (GRCm39)	R227*	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
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'- AACGGCTCTTCAGATTTCGTC -3'
(R):5'- TGATCCTGGAGAAGAAAGCTTTC -3'

Sequencing Primer
(F):5'- GGCTCTTCAGATTTCGTCTCTCAAC -3'
(R):5'- TCCTCACTAGTTCTGGGC -3'

Posted On

2022-08-09