Mutagenetix > Incidental Mutation

Incidental Mutation 'R2899:Potefam1'

261401

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

040487-MU

Accession Numbers

Essential gene?

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

Stock #

R2899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110880755-111059948 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 111051015 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,443 (GRCm39)	K211E	probably benign	Het
Amigo3	T	C	9: 107,931,353 (GRCm39)	S259P	probably benign	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Cd200r4	T	C	16: 44,653,728 (GRCm39)	I175T	probably damaging	Het
Cep131	T	C	11: 119,962,854 (GRCm39)	D425G	probably benign	Het
Clmp	T	C	9: 40,693,688 (GRCm39)	S302P	probably damaging	Het
Dusp6	T	C	10: 99,099,707 (GRCm39)	S52P	probably damaging	Het
Epha5	T	A	5: 84,381,667 (GRCm39)	I395F	probably damaging	Het
F5	A	G	1: 164,014,469 (GRCm39)	E580G	possibly damaging	Het
Fbxo3	T	A	2: 103,881,480 (GRCm39)	Y271N	probably damaging	Het
Fuca1	G	A	4: 135,650,323 (GRCm39)	W131*	probably null	Het
Gdf7	C	T	12: 8,348,470 (GRCm39)	A276T	unknown	Het
Limk1	A	T	5: 134,717,154 (GRCm39)		probably null	Het
Lrrc37a	G	A	11: 103,388,690 (GRCm39)	T2245I	unknown	Het
Neb	A	G	2: 52,075,335 (GRCm39)	I210T	probably benign	Het
Nf1	T	G	11: 79,303,584 (GRCm39)	N420K	possibly damaging	Het
Or5b101	T	A	19: 13,005,058 (GRCm39)	I212F	probably damaging	Het
Pask	G	T	1: 93,262,269 (GRCm39)	T197K	probably damaging	Het
Pou4f3	T	C	18: 42,528,588 (GRCm39)	L177P	probably benign	Het
Rassf1	G	A	9: 107,431,393 (GRCm39)	G107R	probably null	Het
Rdx	T	C	9: 51,980,211 (GRCm39)		probably benign	Het
Saraf	T	C	8: 34,628,385 (GRCm39)	L77P	probably damaging	Het
Syngap1	A	G	17: 27,178,959 (GRCm39)	E483G	probably damaging	Het
Tsku	T	C	7: 98,002,124 (GRCm39)	N69S	probably damaging	Het
Usp36	G	A	11: 118,167,582 (GRCm39)		probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Zc3h6	T	C	2: 128,844,152 (GRCm39)	V232A	probably benign	Het
Zfp143	T	A	7: 109,671,336 (GRCm39)	S99R	probably damaging	Het
Zkscan3	A	T	13: 21,578,143 (GRCm39)	L219Q	probably 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
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
R2075:Potefam1	UTSW	2	111,030,763 (GRCm39)	missense	probably damaging	0.96
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'- GGTACTTGGTTCAATCTTCAGC -3'
(R):5'- ACAGAAGGCTTCCTACCCATTC -3'

Sequencing Primer
(F):5'- GGTTCAATCTTCAGCATTTCCAAATC -3'
(R):5'- AATGAACTCTTGCTTACCATAGTG -3'

Posted On

2015-01-23