Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01649:Potefam1'

102784

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 #

IGL01649

Quality Score

Status

Chromosome

Chromosomal Location

110880755-111059948 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 111044921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028577 (fasta)

Gene Model

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

AlphaFold

Q05AC5

Predicted Effect

probably benign
Transcript: ENSMUST00000028577

SMART Domains

Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,217,116 (GRCm39)	S220P	probably benign	Het
Adam18	T	C	8: 25,104,912 (GRCm39)	N634S	possibly damaging	Het
Arhgef18	T	A	8: 3,491,211 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,911,541 (GRCm39)	S1518G	probably benign	Het
Cltc	A	G	11: 86,617,226 (GRCm39)	V341A	probably benign	Het
Dlg5	A	G	14: 24,188,759 (GRCm39)	V1721A	probably damaging	Het
Dnah10	A	T	5: 124,809,553 (GRCm39)	I274F	probably damaging	Het
Dock1	T	A	7: 134,379,139 (GRCm39)	L622Q	probably damaging	Het
Dysf	A	G	6: 84,176,821 (GRCm39)	D1960G	probably damaging	Het
Fat3	T	C	9: 16,288,015 (GRCm39)	T503A	possibly damaging	Het
Glb1	A	G	9: 114,253,016 (GRCm39)	Y73C	probably damaging	Het
Gm9396	G	T	3: 129,862,268 (GRCm39)		noncoding transcript	Het
Gml2	G	T	15: 74,696,070 (GRCm39)	E155*	probably null	Het
Ikzf4	G	A	10: 128,471,689 (GRCm39)	R323C	probably damaging	Het
Kiz	A	G	2: 146,731,229 (GRCm39)	T240A	probably benign	Het
Lzts3	T	C	2: 130,477,351 (GRCm39)	K480E	probably damaging	Het
Mcm7	T	C	5: 138,167,698 (GRCm39)	H105R	probably damaging	Het
Mpdz	A	G	4: 81,221,870 (GRCm39)	L1464P	probably damaging	Het
Mrgpra9	A	C	7: 46,884,900 (GRCm39)	L256V	probably benign	Het
Mrpl40	T	C	16: 18,691,329 (GRCm39)	Q127R	probably benign	Het
Myom2	G	T	8: 15,163,755 (GRCm39)	R1003L	probably benign	Het
Nav2	A	G	7: 49,225,477 (GRCm39)	T1806A	probably damaging	Het
Or10x4	T	C	1: 174,218,974 (GRCm39)	L113P	probably damaging	Het
Pibf1	A	T	14: 99,425,199 (GRCm39)	Y562F	possibly damaging	Het
Ppm1n	A	T	7: 19,012,122 (GRCm39)		probably benign	Het
Psg17	A	G	7: 18,550,727 (GRCm39)	V376A	possibly damaging	Het
Septin8	T	A	11: 53,425,855 (GRCm39)	F143I	possibly damaging	Het
Sestd1	A	G	2: 77,029,389 (GRCm39)	Y330H	probably damaging	Het
Sntg1	C	T	1: 8,752,193 (GRCm39)		probably benign	Het
Stpg2	C	A	3: 139,125,623 (GRCm39)	P472Q	probably damaging	Het
Thbs1	A	G	2: 117,945,463 (GRCm39)	K314R	probably benign	Het
Vav3	T	C	3: 109,470,078 (GRCm39)	Y508H	probably benign	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
IGL01601:Potefam1	APN	2	111,023,823 (GRCm39)	missense	unknown
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

2014-01-21