Mutagenetix > Incidental Mutation

Incidental Mutation 'R2075:Potefam1'

227497

Institutional Source

Beutler Lab

Gene Symbol

Potefam1

Ensembl Gene

ENSMUSG00000027157

Gene Name

POTE ankyrin domain family member 1

Synonyms

Potea, Pote1, 4930430A15Rik, A26c3

MMRRC Submission

040080-MU

Accession Numbers

Essential gene?

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

Stock #

R2075 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110880755-111059948 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111030763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 382 (E382G)

Ref Sequence

ENSEMBL: ENSMUSP00000028577 (fasta)

Gene Model

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

AlphaFold

Q05AC5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028577
AA Change: E382G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: E382G

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

possibly damaging
Transcript: ENSMUST00000142636
AA Change: E10G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157
AA Change: E10G

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,472,382 (GRCm39)	F4263L	probably damaging	Het
Aebp2	G	A	6: 140,579,420 (GRCm39)	S219N	probably benign	Het
Anln	C	A	9: 22,244,464 (GRCm39)	W1083L	probably benign	Het
Atic	T	A	1: 71,615,286 (GRCm39)	D438E	probably benign	Het
Bahcc1	G	A	11: 120,162,515 (GRCm39)	C271Y	probably damaging	Het
Btbd17	A	T	11: 114,682,778 (GRCm39)		probably null	Het
Ccdc122	T	C	14: 77,306,391 (GRCm39)		probably null	Het
Ccdc149	A	G	5: 52,596,510 (GRCm39)	L34P	probably damaging	Het
Cd22	C	G	7: 30,569,123 (GRCm39)	C637S	probably damaging	Het
Ces1a	T	A	8: 93,774,703 (GRCm39)	N12Y	probably benign	Het
Chmp1a	A	T	8: 123,934,761 (GRCm39)	M65K	probably damaging	Het
Clec16a	G	A	16: 10,559,480 (GRCm39)	A918T	probably benign	Het
Clec2m	C	T	6: 129,303,666 (GRCm39)	E100K	probably benign	Het
Cnot1	G	T	8: 96,466,461 (GRCm39)	T1592K	possibly damaging	Het
Ddx10	A	T	9: 53,151,805 (GRCm39)	D73E	probably benign	Het
Dhx32	T	C	7: 133,323,021 (GRCm39)	N731S	probably benign	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dna2	A	G	10: 62,805,601 (GRCm39)	Q946R	probably benign	Het
Dnai4	G	A	4: 102,907,390 (GRCm39)	T632M	probably damaging	Het
Duox2	T	A	2: 122,125,639 (GRCm39)	S323C	probably damaging	Het
Esr2	A	G	12: 76,212,221 (GRCm39)		probably null	Het
Fbxo9	G	T	9: 77,991,798 (GRCm39)	H397N	possibly damaging	Het
Fsip2	T	A	2: 82,818,923 (GRCm39)	N4885K	possibly damaging	Het
Gm12695	T	C	4: 96,612,182 (GRCm39)	Y527C	possibly damaging	Het
Hivep1	A	G	13: 42,309,794 (GRCm39)	D678G	probably damaging	Het
Hmcn1	T	A	1: 150,453,074 (GRCm39)	I5414F	possibly damaging	Het
Hspb2	T	C	9: 50,662,646 (GRCm39)	Y67C	probably benign	Het
Kbtbd8	T	A	6: 95,103,664 (GRCm39)	C438S	possibly damaging	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
Ky	A	G	9: 102,419,945 (GRCm39)	S651G	probably damaging	Het
Lgals12	T	C	19: 7,576,210 (GRCm39)	D238G	possibly damaging	Het
Lpcat3	T	A	6: 124,680,066 (GRCm39)	Y380N	probably damaging	Het
Mdn1	A	G	4: 32,716,058 (GRCm39)	H2080R	probably benign	Het
Mex3c	C	T	18: 73,722,840 (GRCm39)	S311L	probably benign	Het
Mlh3	A	T	12: 85,315,915 (GRCm39)	Y90*	probably null	Het
Mpped2	T	A	2: 106,575,147 (GRCm39)	Y77*	probably null	Het
Myo5a	A	T	9: 75,097,200 (GRCm39)	T49S	probably benign	Het
Nsd1	T	C	13: 55,458,313 (GRCm39)	V2142A	possibly damaging	Het
Or4a74	A	G	2: 89,439,822 (GRCm39)	V208A	probably benign	Het
Or51b17	T	A	7: 103,542,127 (GRCm39)	I272F	probably damaging	Het
Or51i2	T	A	7: 103,689,180 (GRCm39)	M59K	probably damaging	Het
Or5ac19	T	C	16: 59,089,274 (GRCm39)	Y252C	possibly damaging	Het
Pdgfra	T	C	5: 75,348,609 (GRCm39)	I883T	probably damaging	Het
Pdzd2	A	G	15: 12,385,905 (GRCm39)	L955P	probably damaging	Het
Phf24	A	G	4: 42,939,507 (GRCm39)	Y333C	possibly damaging	Het
Phlpp2	T	C	8: 110,655,124 (GRCm39)	S605P	possibly damaging	Het
Piezo2	C	T	18: 63,214,805 (GRCm39)	E1263K	probably damaging	Het
Pitrm1	A	G	13: 6,605,419 (GRCm39)	T149A	probably damaging	Het
Pkhd1l1	G	T	15: 44,422,035 (GRCm39)	A3102S	probably damaging	Het
Plch2	A	T	4: 155,074,366 (GRCm39)	L754Q	probably damaging	Het
Polr2c	A	G	8: 95,590,195 (GRCm39)	I267V	probably benign	Het
Prss8	C	A	7: 127,526,266 (GRCm39)	R148L	possibly damaging	Het
Ptpn2	T	A	18: 67,814,545 (GRCm39)	T155S	probably damaging	Het
Ptprn2	G	A	12: 117,211,337 (GRCm39)	V839I	probably benign	Het
Sbp	A	G	17: 24,164,132 (GRCm39)		probably null	Het
Sec16a	A	G	2: 26,330,251 (GRCm39)	I588T	probably damaging	Het
Six2	A	G	17: 85,994,933 (GRCm39)	S150P	probably damaging	Het
Slc5a5	C	T	8: 71,345,083 (GRCm39)	G75R	possibly damaging	Het
Slc6a20b	T	A	9: 123,424,099 (GRCm39)	T623S	probably benign	Het
Sqle	T	A	15: 59,195,750 (GRCm39)	V342E	probably damaging	Het
Stk3	T	C	15: 34,959,195 (GRCm39)	M256V	possibly damaging	Het
Tek	A	G	4: 94,715,966 (GRCm39)	I463V	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tnc	G	A	4: 63,913,903 (GRCm39)	T1303M	possibly damaging	Het
Traf6	A	C	2: 101,527,398 (GRCm39)	I383L	probably benign	Het
Tubb3	C	T	8: 124,148,009 (GRCm39)	A314V	probably damaging	Het
Vmn1r199	A	T	13: 22,567,435 (GRCm39)	Y243F	probably damaging	Het
Vmn2r111	A	C	17: 22,778,043 (GRCm39)	N545K	probably damaging	Het
Vmn2r27	T	A	6: 124,177,510 (GRCm39)	Q498L	possibly damaging	Het
Vstm4	A	T	14: 32,639,811 (GRCm39)	S229C	probably damaging	Het
Wdr12	C	T	1: 60,130,222 (GRCm39)	R63Q	possibly damaging	Het
Wrn	T	A	8: 33,812,357 (GRCm39)	I187L	probably benign	Het
Xirp2	A	T	2: 67,340,545 (GRCm39)	I929L	probably benign	Het
Ywhae	T	A	11: 75,655,486 (GRCm39)	D252E	probably benign	Het
Zfp944	A	T	17: 22,558,178 (GRCm39)	C356*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTTCCCTTGTTAACAATTGCAGC -3'
(R):5'- CCTTGAACATGTTGCCATCTACTG -3'

Sequencing Primer
(F):5'- CCTTGTTAACAATTGCAGCCATTTAG -3'
(R):5'- TCTTTAAGAGTATAAACAACCAGCTC -3'

Posted On

2014-09-17