Mutagenetix > Incidental Mutation

Incidental Mutation 'R1860:Phaf1'

203809

Institutional Source

Beutler Lab

Gene Symbol

Phaf1

Ensembl Gene

ENSMUSG00000031889

Gene Name

phagosome assembly factor 1

Synonyms

D230025D16Rik, Mytho, Lin10

MMRRC Submission

039883-MU

Accession Numbers

Essential gene?

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

Stock #

R1860 (G1)

Quality Score

192

Status

Not validated

Chromosome

Chromosomal Location

105951779-105979685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105966703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 150 (E150G)

Ref Sequence

ENSEMBL: ENSMUSP00000034361 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000034361
AA Change: E150G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034361
Gene: ENSMUSG00000031889
AA Change: E150G

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

possibly damaging
Transcript: ENSMUST00000141957
AA Change: E150G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119148
Gene: ENSMUSG00000031889
AA Change: E150G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156561

Meta Mutation Damage Score

0.2698

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,884,098 (GRCm39)	C587R	probably damaging	Het
Abca16	T	A	7: 120,133,986 (GRCm39)	S1320T	probably benign	Het
Abra	C	A	15: 41,732,430 (GRCm39)	R212L	probably damaging	Het
Acadsb	T	A	7: 131,045,958 (GRCm39)		probably null	Het
Adam26a	A	G	8: 44,022,578 (GRCm39)	V304A	possibly damaging	Het
Adgre1	T	C	17: 57,748,363 (GRCm39)	V521A	probably benign	Het
Adh5	G	A	3: 138,159,539 (GRCm39)	V288I	probably benign	Het
Astn1	A	C	1: 158,429,515 (GRCm39)	N753T	probably damaging	Het
Atad2	A	T	15: 57,960,114 (GRCm39)		probably null	Het
Best3	A	G	10: 116,829,178 (GRCm39)	T153A	probably damaging	Het
Ccdc122	G	A	14: 77,348,847 (GRCm39)	V226I	probably damaging	Het
Ccdc175	T	C	12: 72,152,700 (GRCm39)	Q735R	probably benign	Het
Cd19	T	A	7: 126,008,813 (GRCm39)	I499F	probably damaging	Het
Cftr	T	A	6: 18,268,288 (GRCm39)	L749H	probably benign	Het
Clec2h	G	T	6: 128,652,790 (GRCm39)	G186W	probably damaging	Het
Cpsf3	T	A	12: 21,346,733 (GRCm39)	I202N	probably damaging	Het
Crebbp	G	T	16: 3,905,600 (GRCm39)	T1669N	possibly damaging	Het
Csmd3	A	T	15: 47,522,588 (GRCm39)	C2694S	probably damaging	Het
Cul4a	G	A	8: 13,173,565 (GRCm39)	R204Q	probably damaging	Het
Derl2	A	G	11: 70,909,169 (GRCm39)	F43S	probably damaging	Het
Dnah14	T	A	1: 181,591,525 (GRCm39)	N3348K	probably damaging	Het
Dnhd1	T	C	7: 105,353,412 (GRCm39)	V2855A	probably benign	Het
Dpysl4	G	T	7: 138,670,215 (GRCm39)	C27F	probably benign	Het
Fam228b	G	A	12: 4,798,314 (GRCm39)	A163V	probably damaging	Het
Fscn1	T	C	5: 142,955,818 (GRCm39)		probably null	Het
Fzd5	C	A	1: 64,774,153 (GRCm39)	R536L	probably damaging	Het
Gm8180	T	A	14: 44,021,196 (GRCm39)	H4L	probably benign	Het
Gpr176	T	A	2: 118,203,659 (GRCm39)	N4Y	probably damaging	Het
Grin3a	T	C	4: 49,665,309 (GRCm39)	I1109V	possibly damaging	Het
Hcar1	T	A	5: 124,017,092 (GRCm39)	I200F	probably damaging	Het
Heatr4	G	A	12: 84,026,502 (GRCm39)	Q252*	probably null	Het
Hps1	G	A	19: 42,750,888 (GRCm39)	H371Y	probably damaging	Het
Ikzf2	T	C	1: 69,609,661 (GRCm39)	T195A	probably damaging	Het
Kdm1b	G	A	13: 47,202,666 (GRCm39)	A34T	probably benign	Het
Lef1	A	G	3: 130,905,290 (GRCm39)	N57S	probably damaging	Het
Ltn1	A	T	16: 87,213,231 (GRCm39)	D443E	probably benign	Het
Macroh2a1	A	G	13: 56,231,017 (GRCm39)	L287P	probably damaging	Het
Mamdc2	T	C	19: 23,336,517 (GRCm39)	T331A	probably damaging	Het
Marchf10	A	T	11: 105,287,904 (GRCm39)	S133T	probably damaging	Het
Mb	A	G	15: 76,901,784 (GRCm39)	Y104H	probably damaging	Het
Mrc1	C	A	2: 14,333,390 (GRCm39)	P1357Q	probably benign	Het
Nfib	C	T	4: 82,241,917 (GRCm39)	V425M	probably damaging	Het
Or12j2	G	A	7: 139,916,132 (GRCm39)	R119H	possibly damaging	Het
Or4a27	T	G	2: 88,559,674 (GRCm39)	I90L	probably damaging	Het
Or4b1b	C	A	2: 90,112,502 (GRCm39)	C139F	probably damaging	Het
Or4c127	G	A	2: 89,833,490 (GRCm39)	V247I	probably benign	Het
Or4n4	A	T	14: 50,518,848 (GRCm39)	Y287*	probably null	Het
Or52u1	T	C	7: 104,237,112 (GRCm39)	S34P	probably damaging	Het
Or5b113	T	A	19: 13,342,705 (GRCm39)	S238T	possibly damaging	Het
Or5p53	A	G	7: 107,533,597 (GRCm39)	Y290C	probably damaging	Het
Or6c208	T	C	10: 129,223,955 (GRCm39)	F151S	probably damaging	Het
Or8b51	A	T	9: 38,569,661 (GRCm39)	V9E	probably damaging	Het
Piezo1	T	C	8: 123,222,489 (GRCm39)	N919S	possibly damaging	Het
Prkaca	T	C	8: 84,707,852 (GRCm39)	S46P	probably benign	Het
Prkcb	T	G	7: 122,167,424 (GRCm39)	V378G	probably damaging	Het
Ptprf	A	T	4: 118,081,129 (GRCm39)	L576Q	probably damaging	Het
Rapgef4	T	C	2: 72,065,064 (GRCm39)	V687A	probably benign	Het
Rsad2	C	T	12: 26,500,616 (GRCm39)	V224I	probably damaging	Het
Ryr1	A	T	7: 28,708,977 (GRCm39)	D4796E	unknown	Het
Scn1a	C	T	2: 66,148,326 (GRCm39)	S1073N	probably damaging	Het
Slc26a3	A	G	12: 31,515,845 (GRCm39)	M582V	probably benign	Het
Tbc1d32	A	T	10: 55,999,633 (GRCm39)	Y846*	probably null	Het
Tbk1	A	T	10: 121,383,076 (GRCm39)	M719K	probably benign	Het
Timeless	A	G	10: 128,081,983 (GRCm39)	K536R	probably benign	Het
Tle6	G	T	10: 81,430,163 (GRCm39)	Q330K	probably damaging	Het
Tmem208	A	G	8: 106,061,438 (GRCm39)	K155E	possibly damaging	Het
Toe1	T	C	4: 116,662,426 (GRCm39)	Y273C	probably damaging	Het
Tppp2	A	C	14: 52,158,062 (GRCm39)	N169T	probably benign	Het
Ttll6	T	A	11: 96,029,700 (GRCm39)	Y204*	probably null	Het
Ubxn11	G	A	4: 133,852,149 (GRCm39)	S32N	probably damaging	Het
Usp8	G	A	2: 126,597,960 (GRCm39)	C961Y	probably damaging	Het
Vdac3	A	T	8: 23,070,515 (GRCm39)	I132K	possibly damaging	Het
Vmn2r124	G	T	17: 18,269,759 (GRCm39)	W5L	probably benign	Het
Vmn2r71	A	T	7: 85,264,782 (GRCm39)	D38V	probably damaging	Het
Vmn2r87	C	T	10: 130,315,755 (GRCm39)	V104I	probably benign	Het
Vmn2r97	C	T	17: 19,167,648 (GRCm39)	T634I	probably benign	Het
Vps50	T	C	6: 3,520,279 (GRCm39)		probably null	Het
Wwc2	T	C	8: 48,443,137 (GRCm39)	N32S	possibly damaging	Het
Ythdc2	T	A	18: 45,006,023 (GRCm39)	I1172K	possibly damaging	Het
Zfp14	C	T	7: 29,738,116 (GRCm39)	V290M	probably damaging	Het
Zfp317	G	A	9: 19,553,280 (GRCm39)	A18T	possibly damaging	Het
Zfp354b	A	T	11: 50,814,369 (GRCm39)	N185K	probably benign	Het
Zscan21	T	A	5: 138,124,892 (GRCm39)	D269E	probably benign	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
IGL02512:Phaf1	APN	8	105,961,110 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GTGTGTAGCACCTCAGACCTTG -3'
(R):5'- CTGACAATGTGAGGGCCTTAATG -3'

Sequencing Primer
(F):5'- CATCCTAGTGGGTCAGTTCAGAAAC -3'
(R):5'- TGGCCTCTACAGTGCAAAG -3'

Posted On

2014-06-23