Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01935:Phaf1'

180600

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: 0.289) question?

Stock #

IGL01935

Quality Score

Status

Chromosome

Chromosomal Location

105951779-105979685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105966633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 127 (F127L)

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 damaging
Transcript: ENSMUST00000034361
AA Change: F127L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034361
Gene: ENSMUSG00000031889
AA Change: F127L

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 damaging
Transcript: ENSMUST00000132964
AA Change: F105L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123583
Gene: ENSMUSG00000031889
AA Change: F105L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000141957
AA Change: F127L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119148
Gene: ENSMUSG00000031889
AA Change: F127L

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	C	T	6: 140,583,383 (GRCm39)		probably benign	Het
Akr1c12	A	T	13: 4,322,244 (GRCm39)	V266E	probably damaging	Het
Arhgef1	A	G	7: 24,621,307 (GRCm39)	T186A	probably damaging	Het
Atp8b5	A	G	4: 43,366,638 (GRCm39)	T801A	probably benign	Het
Card11	T	A	5: 140,869,301 (GRCm39)	I832F	possibly damaging	Het
Catsperg1	T	C	7: 28,895,296 (GRCm39)		probably null	Het
Ccdc180	A	G	4: 45,906,889 (GRCm39)	T455A	possibly damaging	Het
Cfhr1	T	A	1: 139,478,740 (GRCm39)	Y210F	probably benign	Het
Chrna5	T	C	9: 54,912,127 (GRCm39)	V309A	probably benign	Het
Clstn2	A	G	9: 97,345,521 (GRCm39)	V609A	probably damaging	Het
Dnah6	T	C	6: 73,037,126 (GRCm39)	D3372G	probably benign	Het
Dtymk	T	C	1: 93,722,465 (GRCm39)	K113E	probably benign	Het
Eef2k	T	C	7: 120,485,054 (GRCm39)	F307S	probably damaging	Het
Flnc	T	A	6: 29,454,279 (GRCm39)	V1864E	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Herc2	A	G	7: 55,803,541 (GRCm39)	Y2192C	probably benign	Het
Hkdc1	A	T	10: 62,236,165 (GRCm39)	V459E	probably damaging	Het
Iqsec3	T	C	6: 121,360,951 (GRCm39)	D969G	probably damaging	Het
Irf3	A	G	7: 44,650,194 (GRCm39)	T237A	probably benign	Het
Jade2	G	A	11: 51,719,211 (GRCm39)	T245I	possibly damaging	Het
Kctd8	A	G	5: 69,497,707 (GRCm39)	I313T	possibly damaging	Het
Kdm5a	T	A	6: 120,385,284 (GRCm39)	S835R	probably benign	Het
Lama2	A	C	10: 27,298,600 (GRCm39)	H165Q	probably damaging	Het
Lrp1b	T	A	2: 41,158,367 (GRCm39)	N1617Y	probably damaging	Het
Mcc	C	T	18: 44,652,583 (GRCm39)		probably null	Het
Mfsd14b	T	A	13: 65,215,739 (GRCm39)	M405L	probably benign	Het
Myom3	T	A	4: 135,515,692 (GRCm39)	F794I	probably damaging	Het
Napsa	G	T	7: 44,236,046 (GRCm39)	A362S	probably benign	Het
Ncf4	A	T	15: 78,140,186 (GRCm39)	D195V	probably damaging	Het
Or11g1	T	C	14: 50,651,012 (GRCm39)	F4L	probably benign	Het
Pank4	T	G	4: 155,063,987 (GRCm39)	D659E	probably damaging	Het
Pcnx1	T	A	12: 81,964,590 (GRCm39)	D252E	probably benign	Het
Pglyrp2	G	A	17: 32,637,551 (GRCm39)	A159V	probably benign	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Ppfia4	A	G	1: 134,245,674 (GRCm39)	S627P	probably benign	Het
Ppp1r15b	T	C	1: 133,059,761 (GRCm39)	F93L	probably benign	Het
Pramel13	C	T	4: 144,119,172 (GRCm39)		probably benign	Het
Qrfpr	A	T	3: 36,235,200 (GRCm39)		probably null	Het
Rapgef4	C	A	2: 72,064,467 (GRCm39)	T623K	probably benign	Het
Rapgef6	A	G	11: 54,501,668 (GRCm39)	T184A	possibly damaging	Het
Ssrp1	T	C	2: 84,877,056 (GRCm39)	*709Q	probably null	Het
St7	T	G	6: 17,930,822 (GRCm39)	I442S	probably damaging	Het
Syne2	T	A	12: 75,972,087 (GRCm39)	H992Q	probably damaging	Het
Syt14	T	C	1: 192,615,679 (GRCm39)	R436G	probably damaging	Het
Tbc1d5	A	G	17: 51,270,793 (GRCm39)		probably benign	Het
Thsd7a	T	A	6: 12,317,418 (GRCm39)	N1630I	probably damaging	Het
Tinagl1	T	C	4: 130,061,794 (GRCm39)	K180R	probably damaging	Het
Tmed7	T	C	18: 46,730,190 (GRCm39)	T54A	probably benign	Het
Tmprss2	A	T	16: 97,379,795 (GRCm39)	Y48*	probably null	Het
Tns2	C	T	15: 102,020,069 (GRCm39)		probably null	Het
Unc13d	T	C	11: 115,960,577 (GRCm39)	M496V	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zbtb39	A	G	10: 127,578,235 (GRCm39)	T270A	probably benign	Het
Zfr	T	C	15: 12,180,798 (GRCm39)	S976P	probably benign	Het
Zscan29	A	G	2: 121,000,538 (GRCm39)	F23S	probably damaging	Het

Other mutations in Phaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2014-05-07