Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02512:Phaf1'

296618

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phaf1

Ensembl Gene

ENSMUSG00000031889

Gene Name

phagosome assembly factor 1

Synonyms

D230025D16Rik, Mytho, Lin10

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

IGL02512

Quality Score

Status

Chromosome

Chromosomal Location

105951779-105979685 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 105961110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034361] [ENSMUST00000124113] [ENSMUST00000132964] [ENSMUST00000141957]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034361

SMART Domains

Protein: ENSMUSP00000034361
Gene: ENSMUSG00000031889

Domain	Start	End	E-Value	Type
Pfam:UPF0183	15	407	1.7e-161	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124113

SMART Domains

Protein: ENSMUSP00000119743
Gene: ENSMUSG00000031889

Domain	Start	End	E-Value	Type
Pfam:UPF0183	13	120	1.9e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132964

SMART Domains

Protein: ENSMUSP00000123583
Gene: ENSMUSG00000031889

Domain	Start	End	E-Value	Type
Pfam:UPF0183	1	117	1.4e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141957

SMART Domains

Protein: ENSMUSP00000119148
Gene: ENSMUSG00000031889

Domain	Start	End	E-Value	Type
Pfam:UPF0183	13	161	2.8e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156561

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg10b	C	A	15: 90,111,752 (GRCm39)	H199N	probably benign	Het
Ankrd13a	T	A	5: 114,924,827 (GRCm39)	M104K	probably benign	Het
Ankrd37	A	G	8: 46,452,325 (GRCm39)	L48P	probably damaging	Het
Ankzf1	T	A	1: 75,169,222 (GRCm39)	L43M	probably damaging	Het
Ano10	A	C	9: 122,101,540 (GRCm39)	V77G	possibly damaging	Het
Arg2	G	A	12: 79,194,517 (GRCm39)	V114I	probably benign	Het
Asah1	A	C	8: 41,813,344 (GRCm39)		probably benign	Het
Clpx	A	C	9: 65,217,533 (GRCm39)	I34L	probably benign	Het
Cnga2	G	A	X: 71,052,531 (GRCm39)	V469I	probably damaging	Het
Dock9	A	T	14: 121,856,950 (GRCm39)		probably benign	Het
Eaf1	A	G	14: 31,219,743 (GRCm39)	T61A	possibly damaging	Het
Exoc3l	T	A	8: 106,017,115 (GRCm39)	D624V	probably damaging	Het
Fancd2	A	G	6: 113,547,904 (GRCm39)	D927G	probably damaging	Het
Fbn1	A	T	2: 125,180,380 (GRCm39)	Y1801N	probably damaging	Het
Garnl3	A	G	2: 32,921,150 (GRCm39)	Y292H	probably damaging	Het
Gpr174	A	T	X: 106,336,577 (GRCm39)	K130*	probably null	Het
Greb1	C	T	12: 16,742,713 (GRCm39)	V1379I	possibly damaging	Het
Grik2	A	T	10: 49,232,008 (GRCm39)	D507E	probably benign	Het
Gsn	A	T	2: 35,173,962 (GRCm39)	K24*	probably null	Het
Ift80	A	G	3: 68,835,058 (GRCm39)		probably null	Het
Inpp5j	T	A	11: 3,449,661 (GRCm39)	Y707F	probably damaging	Het
Ints13	A	T	6: 146,477,855 (GRCm39)	D31E	probably damaging	Het
Kcnh1	T	C	1: 192,187,689 (GRCm39)	F717L	possibly damaging	Het
Klhdc8a	T	C	1: 132,230,895 (GRCm39)		probably null	Het
Klkb1	G	A	8: 45,729,277 (GRCm39)		probably benign	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Msh6	T	C	17: 88,292,160 (GRCm39)	V305A	probably benign	Het
Myo6	T	A	9: 80,199,801 (GRCm39)		probably null	Het
Nampt	T	A	12: 32,880,268 (GRCm39)	Y54N	possibly damaging	Het
Neurog2	G	T	3: 127,427,504 (GRCm39)	E43*	probably null	Het
Obscn	C	T	11: 58,919,343 (GRCm39)	R6887H	probably damaging	Het
Or10ag58	A	G	2: 87,265,402 (GRCm39)	I190M	possibly damaging	Het
Or5ac25	T	C	16: 59,182,171 (GRCm39)	N137D	possibly damaging	Het
Or6c203	A	G	10: 129,010,119 (GRCm39)	I257T	possibly damaging	Het
Pdss1	A	G	2: 22,802,658 (GRCm39)	I166V	probably damaging	Het
Ptpn21	T	C	12: 98,645,651 (GRCm39)	T1096A	probably benign	Het
Reln	A	G	5: 22,245,425 (GRCm39)	Y728H	probably benign	Het
Sec31a	T	C	5: 100,555,052 (GRCm39)	D56G	probably damaging	Het
Shroom1	T	A	11: 53,357,386 (GRCm39)	V683E	probably damaging	Het
Slc5a11	A	G	7: 122,864,478 (GRCm39)	D358G	probably damaging	Het
Slfn3	T	A	11: 83,103,851 (GRCm39)	S241T	possibly damaging	Het
Slitrk3	G	A	3: 72,957,735 (GRCm39)	P346S	probably benign	Het
Specc1	T	A	11: 62,009,215 (GRCm39)	S324T	probably damaging	Het
Sptlc3	T	C	2: 139,389,123 (GRCm39)	Y168H	probably damaging	Het
St3gal6	C	T	16: 58,293,822 (GRCm39)	E236K	probably benign	Het
Tet2	A	T	3: 133,175,069 (GRCm39)	M1426K	probably benign	Het
Tinag	A	T	9: 76,939,069 (GRCm39)		probably benign	Het
Tjp1	A	G	7: 64,993,415 (GRCm39)	S53P	probably damaging	Het
Uimc1	T	C	13: 55,188,431 (GRCm39)	T543A	possibly damaging	Het
Wdfy4	A	G	14: 32,764,448 (GRCm39)	W2147R	probably benign	Het
Zmym1	C	T	4: 126,942,465 (GRCm39)	C641Y	probably damaging	Het

Other mutations in Phaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01935:Phaf1	APN	8	105,966,633 (GRCm39)	missense	probably damaging	0.99
IGL02058:Phaf1	APN	8	105,966,341 (GRCm39)	missense	probably damaging	1.00
IGL02162:Phaf1	APN	8	105,966,605 (GRCm39)	splice site	probably benign
IGL02264:Phaf1	APN	8	105,961,178 (GRCm39)	missense	possibly damaging	0.67
FR4340:Phaf1	UTSW	8	105,967,730 (GRCm39)	missense	probably benign
FR4342:Phaf1	UTSW	8	105,967,730 (GRCm39)	missense	probably benign
FR4589:Phaf1	UTSW	8	105,967,730 (GRCm39)	missense	probably benign
R0564:Phaf1	UTSW	8	105,966,603 (GRCm39)	splice site	probably benign
R1458:Phaf1	UTSW	8	105,973,188 (GRCm39)	critical splice donor site	probably null
R1705:Phaf1	UTSW	8	105,965,104 (GRCm39)	splice site	probably benign
R1860:Phaf1	UTSW	8	105,966,703 (GRCm39)	missense	probably null	1.00
R1861:Phaf1	UTSW	8	105,966,703 (GRCm39)	missense	probably null	1.00
R1893:Phaf1	UTSW	8	105,973,133 (GRCm39)	missense	probably damaging	1.00
R1969:Phaf1	UTSW	8	105,973,132 (GRCm39)	missense	possibly damaging	0.81
R2246:Phaf1	UTSW	8	105,973,132 (GRCm39)	missense	possibly damaging	0.81
R3914:Phaf1	UTSW	8	105,966,615 (GRCm39)	missense	probably benign	0.00
R4175:Phaf1	UTSW	8	105,967,763 (GRCm39)	missense	probably benign	0.09
R4176:Phaf1	UTSW	8	105,967,763 (GRCm39)	missense	probably benign	0.09
R4602:Phaf1	UTSW	8	105,973,520 (GRCm39)	missense	possibly damaging	0.72
R5965:Phaf1	UTSW	8	105,961,171 (GRCm39)	missense	probably damaging	1.00
R7717:Phaf1	UTSW	8	105,978,236 (GRCm39)	missense	probably benign	0.12
R7787:Phaf1	UTSW	8	105,957,820 (GRCm39)	missense	probably damaging	1.00
R7881:Phaf1	UTSW	8	105,976,084 (GRCm39)	missense	probably benign	0.21
R8168:Phaf1	UTSW	8	105,975,401 (GRCm39)	missense	probably benign	0.02
R8949:Phaf1	UTSW	8	105,976,075 (GRCm39)	missense	probably benign
R9183:Phaf1	UTSW	8	105,957,840 (GRCm39)	missense	probably benign	0.01
Z1088:Phaf1	UTSW	8	105,957,804 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16