Mutagenetix > Incidental Mutation

Incidental Mutation 'R1874:Pot1b'

211100

Institutional Source

Beutler Lab

Gene Symbol

Pot1b

Ensembl Gene

ENSMUSG00000024174

Gene Name

protection of telomeres 1B

Synonyms

MMRRC Submission

039896-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1874 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55652025-55712628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55654805 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 591 (Q591L)

Ref Sequence

ENSEMBL: ENSMUSP00000084089 (fasta)

Gene Model

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

AlphaFold

H7BX60

Predicted Effect

probably benign
Transcript: ENSMUST00000086876
AA Change: Q591L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000084089
Gene: ENSMUSG00000024174
AA Change: Q591L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.8%
20x: 94.1%

Validation Efficiency

96% (105/109)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,742,691 (GRCm38)	S217G	probably benign	Het
Adrb3	C	A	8: 27,227,563 (GRCm38)	R286L	probably damaging	Het
Akap11	T	A	14: 78,511,866 (GRCm38)	D1027V	probably benign	Het
Ank3	A	T	10: 69,898,083 (GRCm38)	I726F	probably damaging	Het
Ankmy2	T	A	12: 36,165,931 (GRCm38)	D43E	possibly damaging	Het
Ankrd34b	A	G	13: 92,439,556 (GRCm38)	D432G	probably damaging	Het
Ano3	A	C	2: 110,884,872 (GRCm38)	S74A	probably benign	Het
B4galnt4	T	A	7: 141,070,526 (GRCm38)	S769T	probably damaging	Het
Bicral	T	A	17: 46,825,178 (GRCm38)	T369S	probably benign	Het
Blm	A	G	7: 80,497,418 (GRCm38)	L738P	probably damaging	Het
Bpifb3	A	G	2: 153,925,840 (GRCm38)	T278A	probably benign	Het
Bpifb5	A	G	2: 154,227,202 (GRCm38)		probably benign	Het
Brd8	G	C	18: 34,610,474 (GRCm38)	P266R	probably damaging	Het
Btaf1	A	T	19: 36,980,583 (GRCm38)	M587L	probably benign	Het
Casz1	C	G	4: 148,943,211 (GRCm38)	T1015S	probably damaging	Het
Cdh23	A	G	10: 60,436,818 (GRCm38)	I524T	possibly damaging	Het
Celsr3	T	C	9: 108,835,838 (GRCm38)	V1825A	probably benign	Het
Cenpf	A	G	1: 189,683,816 (GRCm38)	L104P	probably damaging	Het
Clasp1	G	T	1: 118,600,585 (GRCm38)		probably null	Het
Coprs	A	G	8: 13,885,112 (GRCm38)	W148R	probably damaging	Het
Cpne1	A	G	2: 156,078,382 (GRCm38)	S168P	probably damaging	Het
Cpxm2	T	C	7: 132,059,834 (GRCm38)	Y408C	probably damaging	Het
Ctnna3	A	G	10: 63,504,107 (GRCm38)	E24G	possibly damaging	Het
Cubn	T	A	2: 13,323,002 (GRCm38)	S2671C	probably damaging	Het
Cyp4f39	T	A	17: 32,483,324 (GRCm38)	F265Y	probably damaging	Het
Dgkq	C	A	5: 108,660,595 (GRCm38)	R34L	probably benign	Het
Dnajc7	C	T	11: 100,599,313 (GRCm38)		probably benign	Het
Eml6	T	G	11: 29,831,136 (GRCm38)	D632A	probably damaging	Het
Fbxl18	G	A	5: 142,886,223 (GRCm38)	A419V	probably damaging	Het
Fbxw22	A	T	9: 109,385,111 (GRCm38)	C212*	probably null	Het
Ffar2	A	G	7: 30,819,414 (GRCm38)		probably null	Het
Fga	A	T	3: 83,032,721 (GRCm38)	T561S	probably damaging	Het
Fry	A	G	5: 150,345,921 (GRCm38)	Y159C	probably damaging	Het
Gal3st1	A	G	11: 3,998,231 (GRCm38)	Y146C	probably damaging	Het
Gapvd1	A	T	2: 34,706,021 (GRCm38)	H788Q	probably damaging	Het
Gimap7	G	A	6: 48,723,515 (GRCm38)	V12I	possibly damaging	Het
Gli2	C	A	1: 119,002,049 (GRCm38)	A43S	possibly damaging	Het
Gm15446	T	C	5: 109,942,553 (GRCm38)	F224L	probably damaging	Het
Gm21738	C	T	14: 19,418,824 (GRCm38)	V35I	possibly damaging	Het
Grhl1	T	C	12: 24,586,156 (GRCm38)		probably benign	Het
Grk6	T	C	13: 55,450,273 (GRCm38)	Y53H	probably damaging	Het
Hcar1	C	T	5: 123,879,265 (GRCm38)	R121K	probably damaging	Het
Hmcn1	A	C	1: 150,720,695 (GRCm38)	S1797A	probably damaging	Het
Hsd17b7	A	T	1: 169,955,993 (GRCm38)	L282Q	possibly damaging	Het
Irs1	TTCTCTGAGTGGCCACAGCGTCT	TTCT	1: 82,289,853 (GRCm38)		probably null	Het
Kif1b	C	T	4: 149,187,632 (GRCm38)	V1571I	probably benign	Het
Lpl	T	A	8: 68,896,619 (GRCm38)	C266S	probably damaging	Het
Mag	G	A	7: 30,909,051 (GRCm38)	H213Y	probably benign	Het
Mansc4	T	G	6: 147,075,190 (GRCm38)	R309S	probably benign	Het
Mlh3	A	G	12: 85,237,513 (GRCm38)		probably null	Het
Mndal	G	A	1: 173,860,367 (GRCm38)		probably benign	Het
Mrgpra2b	T	A	7: 47,463,994 (GRCm38)	E330V	probably damaging	Het
Myh3	A	G	11: 67,093,179 (GRCm38)	I990V	probably benign	Het
Myoz2	A	T	3: 123,026,116 (GRCm38)	S65T	probably damaging	Het
Naa16	T	C	14: 79,355,743 (GRCm38)	E463G	possibly damaging	Het
Nadsyn1	A	G	7: 143,797,844 (GRCm38)	F684S	probably damaging	Het
Notch1	T	C	2: 26,481,579 (GRCm38)	E286G	possibly damaging	Het
Nynrin	A	T	14: 55,863,493 (GRCm38)	I247L	probably benign	Het
Olfr136	C	T	17: 38,335,969 (GRCm38)	P271S	probably damaging	Het
Olfr644	T	C	7: 104,068,129 (GRCm38)	I301V	probably null	Het
Olfr981	T	A	9: 40,022,855 (GRCm38)	I154N	possibly damaging	Het
Oprm1	A	G	10: 6,789,035 (GRCm38)	H54R	probably benign	Het
P4hb	C	T	11: 120,562,166 (GRCm38)	D483N	probably benign	Het
Pak1	T	C	7: 97,871,580 (GRCm38)	S149P	probably benign	Het
Pars2	T	C	4: 106,653,716 (GRCm38)	F232L	possibly damaging	Het
Pih1d2	A	G	9: 50,620,945 (GRCm38)	M88V	possibly damaging	Het
Pms1	A	T	1: 53,207,233 (GRCm38)	N382K	probably benign	Het
Pnliprp2	G	T	19: 58,763,389 (GRCm38)	V189L	probably benign	Het
Pole	G	A	5: 110,323,664 (GRCm38)	V1425M	possibly damaging	Het
Ppp1r9a	C	T	6: 4,906,348 (GRCm38)	T301M	possibly damaging	Het
Psg21	T	C	7: 18,650,816 (GRCm38)	E335G	probably benign	Het
Ptpru	T	A	4: 131,769,755 (GRCm38)	M1416L	probably benign	Het
Pxn	T	C	5: 115,544,990 (GRCm38)	V117A	probably damaging	Het
Qsox1	C	T	1: 155,812,639 (GRCm38)	R54H	possibly damaging	Het
Rad1	A	G	15: 10,488,006 (GRCm38)	E42G	probably damaging	Het
Rpp14	A	G	14: 8,090,145 (GRCm38)	Y23C	probably benign	Het
Sdk2	C	T	11: 113,834,956 (GRCm38)	V1156I	probably benign	Het
Serpina3j	G	T	12: 104,319,699 (GRCm38)	R371L	probably benign	Het
Serpinb9d	T	A	13: 33,197,963 (GRCm38)		probably null	Het
Sirt5	C	T	13: 43,370,791 (GRCm38)	S13F	possibly damaging	Het
Slc6a7	T	A	18: 61,001,398 (GRCm38)		probably benign	Het
Slx4	A	G	16: 3,986,848 (GRCm38)	S701P	probably benign	Het
Snx29	A	G	16: 11,367,681 (GRCm38)	T43A	probably benign	Het
Speg	T	C	1: 75,423,906 (GRCm38)	V2570A	probably benign	Het
Srrm4	T	A	5: 116,453,506 (GRCm38)		probably benign	Het
Stk32a	A	G	18: 43,261,316 (GRCm38)	Y110C	probably damaging	Het
Tbc1d31	G	A	15: 57,916,110 (GRCm38)	G73E	probably benign	Het
Thsd7a	A	T	6: 12,555,435 (GRCm38)	I150N	possibly damaging	Het
Tjp1	A	T	7: 65,319,253 (GRCm38)	D699E	probably damaging	Het
Tmem143	A	G	7: 45,916,564 (GRCm38)	D437G	possibly damaging	Het
Tmem45a2	A	G	16: 57,047,084 (GRCm38)	Y85H	possibly damaging	Het
Tmem45b	T	A	9: 31,429,087 (GRCm38)	T7S	probably damaging	Het
Ube4b	A	G	4: 149,347,971 (GRCm38)	L832P	probably damaging	Het
Ugp2	G	T	11: 21,329,048 (GRCm38)	F379L	probably damaging	Het
Ugt3a2	A	T	15: 9,365,351 (GRCm38)	D350V	probably damaging	Het
Vmn2r8	T	A	5: 108,802,418 (GRCm38)	T188S	possibly damaging	Het
Vwa7	C	G	17: 35,017,112 (GRCm38)	P14R	probably benign	Het
Vwc2	C	A	11: 11,261,495 (GRCm38)	T317K	probably damaging	Het
Vwf	A	T	6: 125,628,372 (GRCm38)	Q906L	probably benign	Het
Wdr49	A	G	3: 75,429,347 (GRCm38)	V351A	probably damaging	Het
Wdr7	A	G	18: 63,728,504 (GRCm38)	S196G	probably benign	Het
Xkr6	C	A	14: 63,798,296 (GRCm38)	A26E	unknown	Het
Zcchc11	T	A	4: 108,550,725 (GRCm38)	V1397D	probably damaging	Het
Zfp955b	T	C	17: 33,305,453 (GRCm38)	I47V	probably benign	Het

Other mutations in Pot1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Pot1b	APN	17	55,695,160 (GRCm38)	missense	possibly damaging	0.94
IGL01796:Pot1b	APN	17	55,669,750 (GRCm38)	missense	possibly damaging	0.53
IGL01810:Pot1b	APN	17	55,662,521 (GRCm38)	missense	possibly damaging	0.68
IGL02371:Pot1b	APN	17	55,695,092 (GRCm38)	missense	possibly damaging	0.91
IGL02553:Pot1b	APN	17	55,695,024 (GRCm38)	splice site	probably benign
IGL02957:Pot1b	APN	17	55,700,009 (GRCm38)	missense	probably damaging	0.99
IGL02975:Pot1b	APN	17	55,662,454 (GRCm38)	splice site	probably benign
IGL03172:Pot1b	APN	17	55,695,206 (GRCm38)	missense	possibly damaging	0.60
boulder	UTSW	17	55,672,865 (GRCm38)	nonsense	probably null
erosion	UTSW	17	55,687,834 (GRCm38)	missense	probably damaging	0.99
G1Funyon:Pot1b	UTSW	17	55,687,895 (GRCm38)	missense	probably benign
R0020:Pot1b	UTSW	17	55,653,429 (GRCm38)	missense	probably benign	0.03
R0540:Pot1b	UTSW	17	55,665,765 (GRCm38)	missense	probably damaging	0.98
R0607:Pot1b	UTSW	17	55,665,765 (GRCm38)	missense	probably damaging	0.98
R0882:Pot1b	UTSW	17	55,666,400 (GRCm38)	splice site	probably benign
R1164:Pot1b	UTSW	17	55,674,085 (GRCm38)	missense	probably benign	0.18
R1476:Pot1b	UTSW	17	55,653,451 (GRCm38)	missense	possibly damaging	0.73
R1955:Pot1b	UTSW	17	55,674,067 (GRCm38)	missense	possibly damaging	0.73
R1960:Pot1b	UTSW	17	55,662,531 (GRCm38)	missense	probably damaging	0.99
R1961:Pot1b	UTSW	17	55,662,531 (GRCm38)	missense	probably damaging	0.99
R2109:Pot1b	UTSW	17	55,653,413 (GRCm38)	missense	probably benign	0.00
R2895:Pot1b	UTSW	17	55,687,939 (GRCm38)	missense	probably damaging	0.98
R2943:Pot1b	UTSW	17	55,674,058 (GRCm38)	missense	probably benign
R4681:Pot1b	UTSW	17	55,654,831 (GRCm38)	missense	probably benign	0.28
R4763:Pot1b	UTSW	17	55,695,160 (GRCm38)	missense	possibly damaging	0.94
R4821:Pot1b	UTSW	17	55,672,885 (GRCm38)	missense	possibly damaging	0.73
R5079:Pot1b	UTSW	17	55,669,801 (GRCm38)	missense	probably benign	0.18
R5146:Pot1b	UTSW	17	55,672,865 (GRCm38)	nonsense	probably null
R5176:Pot1b	UTSW	17	55,699,995 (GRCm38)	missense	probably benign	0.05
R5394:Pot1b	UTSW	17	55,700,063 (GRCm38)	missense	probably benign	0.19
R5752:Pot1b	UTSW	17	55,687,834 (GRCm38)	missense	probably damaging	0.99
R6866:Pot1b	UTSW	17	55,653,474 (GRCm38)	missense	possibly damaging	0.83
R8301:Pot1b	UTSW	17	55,687,895 (GRCm38)	missense	probably benign
R8390:Pot1b	UTSW	17	55,692,739 (GRCm38)	missense	probably benign	0.00
R8750:Pot1b	UTSW	17	55,666,537 (GRCm38)	missense	probably benign
R9042:Pot1b	UTSW	17	55,699,991 (GRCm38)	critical splice donor site	probably null
R9564:Pot1b	UTSW	17	55,662,465 (GRCm38)	missense	possibly damaging	0.92
R9565:Pot1b	UTSW	17	55,662,465 (GRCm38)	missense	possibly damaging	0.92
R9611:Pot1b	UTSW	17	55,699,995 (GRCm38)	missense	probably benign	0.05
R9727:Pot1b	UTSW	17	55,692,795 (GRCm38)	missense	possibly damaging	0.92
RF014:Pot1b	UTSW	17	55,674,106 (GRCm38)	missense	probably benign	0.12
X0062:Pot1b	UTSW	17	55,695,154 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTTCTGCTATCTCATTAAGACACTG -3'
(R):5'- GGGCTTTAGCTTAGACCAGTTTATG -3'

Sequencing Primer
(F):5'- AAGACACTGATAGATATTGTTCACAC -3'
(R):5'- GGCTGTCCTTGAACTCAGAAATTCG -3'

Posted On

2014-06-30