Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01601:Potefam1'

91767

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Potefam1

Ensembl Gene

ENSMUSG00000027157

Gene Name

POTE ankyrin domain family member 1

Synonyms

Potea, Pote1, 4930430A15Rik, A26c3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL01601

Quality Score

Status

Chromosome

Chromosomal Location

110880755-111059948 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111023823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 104 (C104S)

Ref Sequence

ENSEMBL: ENSMUSP00000117759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028577] [ENSMUST00000142636]

AlphaFold

Q05AC5

Predicted Effect

unknown
Transcript: ENSMUST00000028577
AA Change: C476S

SMART Domains

Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: C476S

Domain	Start	End	E-Value	Type
ANK	78	107	1.61e-4	SMART
ANK	111	140	3.6e-2	SMART
ANK	144	173	4.89e-4	SMART
ANK	177	206	4.03e-5	SMART
ANK	210	239	8.72e-1	SMART
Blast:ANK	243	272	4e-12	BLAST
low complexity region	460	472	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000142636
AA Change: C104S

SMART Domains

Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157
AA Change: C104S

Domain	Start	End	E-Value	Type
internal_repeat_1	1	69	7.48e-6	PROSPERO
internal_repeat_1	81	153	7.48e-6	PROSPERO
low complexity region	168	183	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	T	C	17: 43,020,940 (GRCm39)	D628G	probably benign	Het
Aldh1l1	T	A	6: 90,568,823 (GRCm39)	I708N	probably damaging	Het
Ank3	T	A	10: 69,840,555 (GRCm39)	F985I	possibly damaging	Het
Arap2	A	G	5: 62,798,685 (GRCm39)	W1315R	probably damaging	Het
Arhgef33	C	A	17: 80,655,112 (GRCm39)	Q106K	probably damaging	Het
Atad5	G	A	11: 79,986,343 (GRCm39)	G477S	probably benign	Het
Chgb	T	A	2: 132,635,411 (GRCm39)	I451K	probably benign	Het
Cln6	T	A	9: 62,754,252 (GRCm39)	I98N	probably damaging	Het
Commd1	T	C	11: 22,849,981 (GRCm39)	E234G	probably damaging	Het
Dock2	C	A	11: 34,189,528 (GRCm39)		probably null	Het
Flrt2	T	C	12: 95,746,369 (GRCm39)	S236P	probably damaging	Het
Garnl3	G	A	2: 32,887,701 (GRCm39)	Q770*	probably null	Het
Gpr22	C	T	12: 31,760,044 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,503,164 (GRCm39)	D3880E	probably benign	Het
Lgals8	T	C	13: 12,471,219 (GRCm39)		probably benign	Het
Mccc1	A	G	3: 36,044,101 (GRCm39)	V214A	probably benign	Het
Nat8l	T	C	5: 34,155,809 (GRCm39)	L155P	probably damaging	Het
Nckipsd	A	G	9: 108,691,154 (GRCm39)	S359G	probably benign	Het
Pex6	A	C	17: 47,034,650 (GRCm39)	N785T	probably damaging	Het
Ptprz1	T	A	6: 23,000,437 (GRCm39)	H842Q	probably damaging	Het
Rhno1	A	T	6: 128,335,021 (GRCm39)	S101T	probably damaging	Het
Rnf103	T	G	6: 71,486,167 (GRCm39)	V266G	probably damaging	Het
Slc25a39	T	C	11: 102,296,544 (GRCm39)	D100G	probably damaging	Het
Sspo	T	C	6: 48,463,313 (GRCm39)	L3746P	probably benign	Het
Svep1	C	T	4: 58,084,872 (GRCm39)	G1822E	probably damaging	Het
Tbl3	T	A	17: 24,921,291 (GRCm39)	D500V	probably damaging	Het
Tmc5	T	C	7: 118,223,047 (GRCm39)		probably benign	Het
Usp20	C	T	2: 30,901,806 (GRCm39)	R524W	probably benign	Het
Wnk2	G	T	13: 49,230,038 (GRCm39)	P829T	probably damaging	Het
Zmiz1	A	G	14: 25,582,068 (GRCm39)	N84S	possibly damaging	Het

Other mutations in Potefam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Potefam1	APN	2	111,051,107 (GRCm39)	missense	probably damaging	0.98
IGL01403:Potefam1	APN	2	111,059,515 (GRCm39)	unclassified	probably benign
IGL01431:Potefam1	APN	2	111,055,740 (GRCm39)	unclassified	probably benign
IGL01649:Potefam1	APN	2	111,044,921 (GRCm39)	splice site	probably benign
IGL02355:Potefam1	APN	2	111,041,996 (GRCm39)	splice site	probably benign
IGL02362:Potefam1	APN	2	111,041,996 (GRCm39)	splice site	probably benign
IGL02485:Potefam1	APN	2	111,058,670 (GRCm39)	missense	probably damaging	0.97
IGL02620:Potefam1	APN	2	111,041,970 (GRCm39)	missense	probably benign	0.00
IGL03156:Potefam1	APN	2	111,030,757 (GRCm39)	missense	possibly damaging	0.90
IGL02980:Potefam1	UTSW	2	110,994,818 (GRCm39)	missense	unknown
R0577:Potefam1	UTSW	2	111,024,694 (GRCm39)	missense	probably benign	0.27
R0638:Potefam1	UTSW	2	111,030,763 (GRCm39)	missense	probably damaging	0.96
R0645:Potefam1	UTSW	2	111,044,928 (GRCm39)	critical splice donor site	probably null
R0671:Potefam1	UTSW	2	111,034,482 (GRCm39)	missense	possibly damaging	0.93
R0829:Potefam1	UTSW	2	111,028,450 (GRCm39)	missense	possibly damaging	0.92
R1464:Potefam1	UTSW	2	111,055,748 (GRCm39)	critical splice donor site	probably null
R1464:Potefam1	UTSW	2	111,055,748 (GRCm39)	critical splice donor site	probably null
R1486:Potefam1	UTSW	2	111,030,703 (GRCm39)	missense	possibly damaging	0.84
R1509:Potefam1	UTSW	2	111,048,972 (GRCm39)	missense	probably benign
R1672:Potefam1	UTSW	2	111,051,119 (GRCm39)	missense	probably benign	0.00
R2073:Potefam1	UTSW	2	111,030,763 (GRCm39)	missense	probably damaging	0.96
R2074:Potefam1	UTSW	2	111,030,763 (GRCm39)	missense	probably damaging	0.96
R2075:Potefam1	UTSW	2	111,030,763 (GRCm39)	missense	probably damaging	0.96
R2899:Potefam1	UTSW	2	111,051,015 (GRCm39)	splice site	probably benign
R2965:Potefam1	UTSW	2	111,034,364 (GRCm39)	missense	possibly damaging	0.61
R3110:Potefam1	UTSW	2	111,058,399 (GRCm39)	missense	probably damaging	1.00
R3112:Potefam1	UTSW	2	111,058,399 (GRCm39)	missense	probably damaging	1.00
R4489:Potefam1	UTSW	2	111,051,047 (GRCm39)	missense	probably benign	0.31
R4821:Potefam1	UTSW	2	111,034,490 (GRCm39)	critical splice acceptor site	probably null
R4925:Potefam1	UTSW	2	111,048,961 (GRCm39)	missense	probably benign	0.41
R5045:Potefam1	UTSW	2	111,023,804 (GRCm39)	missense	unknown
R5057:Potefam1	UTSW	2	111,055,766 (GRCm39)	missense	probably benign	0.12
R5128:Potefam1	UTSW	2	110,994,674 (GRCm39)	nonsense	probably null
R5250:Potefam1	UTSW	2	111,058,422 (GRCm39)	missense	possibly damaging	0.87
R5333:Potefam1	UTSW	2	111,024,682 (GRCm39)	missense	possibly damaging	0.92
R5376:Potefam1	UTSW	2	111,045,944 (GRCm39)	missense	probably benign	0.44
R5677:Potefam1	UTSW	2	111,041,910 (GRCm39)	missense	probably benign
R5722:Potefam1	UTSW	2	111,034,468 (GRCm39)	missense	probably benign
R5735:Potefam1	UTSW	2	111,055,837 (GRCm39)	nonsense	probably null
R6170:Potefam1	UTSW	2	111,058,293 (GRCm39)	missense	probably benign	0.03
R6366:Potefam1	UTSW	2	110,999,937 (GRCm39)	critical splice donor site	probably null
R6496:Potefam1	UTSW	2	110,994,817 (GRCm39)	missense	unknown
R6654:Potefam1	UTSW	2	111,002,229 (GRCm39)	missense	unknown
R6983:Potefam1	UTSW	2	111,058,595 (GRCm39)	critical splice donor site	probably null
R7371:Potefam1	UTSW	2	111,023,826 (GRCm39)	missense	unknown
R7958:Potefam1	UTSW	2	111,000,670 (GRCm39)	missense	unknown
R8421:Potefam1	UTSW	2	111,048,955 (GRCm39)	nonsense	probably null
R8495:Potefam1	UTSW	2	111,059,755 (GRCm39)	start codon destroyed	probably null	0.33
R8534:Potefam1	UTSW	2	111,058,380 (GRCm39)	missense	possibly damaging	0.92
R8671:Potefam1	UTSW	2	111,059,877 (GRCm39)	unclassified	probably benign
R8679:Potefam1	UTSW	2	111,059,567 (GRCm39)	missense	possibly damaging	0.73
R8743:Potefam1	UTSW	2	111,000,017 (GRCm39)	missense	unknown
R8983:Potefam1	UTSW	2	111,030,701 (GRCm39)	missense	probably benign	0.00
R9213:Potefam1	UTSW	2	111,020,699 (GRCm39)	missense	unknown
R9457:Potefam1	UTSW	2	111,000,631 (GRCm39)	missense	unknown
R9723:Potefam1	UTSW	2	111,058,700 (GRCm39)	missense	probably damaging	0.97
R9745:Potefam1	UTSW	2	111,000,008 (GRCm39)	missense	unknown

Posted On

2013-12-09