Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00095:Phf20l1'

919

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phf20l1

Ensembl Gene

ENSMUSG00000072501

Gene Name

PHD finger protein 20-like 1

Synonyms

E130113K22Rik, CGI-72

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

IGL00095

Quality Score

Status

Chromosome

Chromosomal Location

66449409-66519825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66500884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 619 (T619A)

Ref Sequence

ENSEMBL: ENSMUSP00000155487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048188] [ENSMUST00000229160] [ENSMUST00000229576] [ENSMUST00000230948]

AlphaFold

Q8CCJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000048188
AA Change: T620A

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: T620A

Domain	Start	End	E-Value	Type
TUDOR	11	71	7.67e0	SMART
Agenet	11	73	3.53e0	SMART
Agenet	85	141	4.54e-1	SMART
TUDOR	85	141	5.75e-8	SMART
Pfam:DUF3776	210	319	1.3e-31	PFAM
Pfam:PHD20L1_u1	318	413	4.7e-47	PFAM
low complexity region	443	453	N/A	INTRINSIC
low complexity region	530	543	N/A	INTRINSIC
low complexity region	547	585	N/A	INTRINSIC
low complexity region	598	608	N/A	INTRINSIC
low complexity region	642	658	N/A	INTRINSIC
PHD	683	727	8.45e-3	SMART
low complexity region	879	887	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229033

Predicted Effect

probably benign
Transcript: ENSMUST00000229160
AA Change: T619A

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000229576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230915

Predicted Effect

probably benign
Transcript: ENSMUST00000230948
AA Change: T593A

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231177

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadm2	A	T	16: 66,679,639 (GRCm39)	Y65N	probably damaging	Het
Catsperg2	C	A	7: 29,397,483 (GRCm39)	C1042F	possibly damaging	Het
Cluh	T	C	11: 74,554,890 (GRCm39)	V776A	probably benign	Het
Crxos	T	A	7: 15,632,543 (GRCm39)	C116*	probably null	Het
Csmd1	A	G	8: 16,059,297 (GRCm39)		probably benign	Het
Cubn	C	A	2: 13,496,631 (GRCm39)		probably benign	Het
Exoc2	A	G	13: 31,004,609 (GRCm39)	I858T	probably benign	Het
Frmpd1	C	A	4: 45,279,456 (GRCm39)	T727K	possibly damaging	Het
Hapln3	T	C	7: 78,771,731 (GRCm39)	T53A	probably damaging	Het
Hnrnpul1	T	A	7: 25,425,579 (GRCm39)	Q584L	possibly damaging	Het
Ikbkb	A	T	8: 23,196,127 (GRCm39)	F26I	probably damaging	Het
Il31ra	A	T	13: 112,684,012 (GRCm39)	I120N	possibly damaging	Het
Itih1	C	T	14: 30,651,778 (GRCm39)	V855M	probably benign	Het
Krtap4-16	A	G	11: 99,742,032 (GRCm39)	S123P	possibly damaging	Het
Large1	C	T	8: 73,564,125 (GRCm39)	R547Q	probably damaging	Het
Madd	A	G	2: 91,006,111 (GRCm39)		probably benign	Het
Mark1	A	G	1: 184,630,800 (GRCm39)	V770A	probably damaging	Het
Mpeg1	T	C	19: 12,440,074 (GRCm39)	F511L	probably benign	Het
Mrgpra9	A	G	7: 46,884,839 (GRCm39)	V276A	possibly damaging	Het
Nav3	T	C	10: 109,677,594 (GRCm39)	T666A	probably damaging	Het
Ndufa8	T	C	2: 35,934,467 (GRCm39)	D37G	probably damaging	Het
Nlrx1	A	G	9: 44,164,576 (GRCm39)	L956P	probably damaging	Het
Nr5a1	T	C	2: 38,598,353 (GRCm39)	E148G	probably benign	Het
Or10ab5	A	T	7: 108,245,043 (GRCm39)	F247I	possibly damaging	Het
Or14c46	T	C	7: 85,918,877 (GRCm39)	N40S	probably damaging	Het
Otulinl	A	G	15: 27,658,202 (GRCm39)	S273P	possibly damaging	Het
Patj	A	C	4: 98,423,799 (GRCm39)	Q1184P	possibly damaging	Het
Pla2g6	T	C	15: 79,173,441 (GRCm39)	T643A	probably damaging	Het
Pramel42	T	C	5: 94,685,663 (GRCm39)	L441P	probably damaging	Het
Radil	A	G	5: 142,483,677 (GRCm39)	S510P	probably damaging	Het
Spock1	A	G	13: 57,735,552 (GRCm39)		probably benign	Het
Stag3	C	T	5: 138,297,400 (GRCm39)	T577M	probably damaging	Het
Tap2	C	T	17: 34,434,352 (GRCm39)	R613C	probably benign	Het
Tnn	A	G	1: 159,953,021 (GRCm39)	V673A	possibly damaging	Het
Trrap	T	C	5: 144,716,784 (GRCm39)		probably benign	Het
Vmn2r28	T	C	7: 5,491,068 (GRCm39)	D393G	probably benign	Het
Zbtb48	T	C	4: 152,105,851 (GRCm39)	H418R	probably damaging	Het
Zc3h12d	T	C	10: 7,738,231 (GRCm39)	V179A	probably damaging	Het

Other mutations in Phf20l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Phf20l1	APN	15	66,487,482 (GRCm39)	splice site	probably benign
IGL00668:Phf20l1	APN	15	66,504,698 (GRCm39)	missense	probably damaging	0.99
IGL00849:Phf20l1	APN	15	66,508,681 (GRCm39)	missense	probably benign	0.00
IGL00954:Phf20l1	APN	15	66,513,757 (GRCm39)	missense	probably damaging	1.00
IGL01025:Phf20l1	APN	15	66,484,981 (GRCm39)	missense	probably damaging	1.00
IGL01504:Phf20l1	APN	15	66,469,540 (GRCm39)	missense	possibly damaging	0.73
IGL02087:Phf20l1	APN	15	66,500,840 (GRCm39)	missense	probably damaging	1.00
IGL02273:Phf20l1	APN	15	66,511,874 (GRCm39)	missense	probably damaging	1.00
IGL02276:Phf20l1	APN	15	66,487,259 (GRCm39)	critical splice donor site	probably null
IGL02372:Phf20l1	APN	15	66,513,650 (GRCm39)	missense	probably damaging	1.00
IGL02589:Phf20l1	APN	15	66,487,481 (GRCm39)	splice site	probably benign
IGL02656:Phf20l1	APN	15	66,501,676 (GRCm39)	missense	probably damaging	1.00
IGL02691:Phf20l1	APN	15	66,476,713 (GRCm39)	missense	probably damaging	1.00
IGL02881:Phf20l1	APN	15	66,466,829 (GRCm39)	critical splice donor site	probably null
IGL02940:Phf20l1	APN	15	66,467,000 (GRCm39)	missense	probably damaging	1.00
IGL02943:Phf20l1	APN	15	66,466,733 (GRCm39)	missense	probably damaging	1.00
IGL03030:Phf20l1	APN	15	66,513,796 (GRCm39)	utr 3 prime	probably benign
IGL03034:Phf20l1	APN	15	66,469,252 (GRCm39)	missense	probably damaging	1.00
Abbreviated	UTSW	15	66,504,752 (GRCm39)	critical splice donor site	probably null
acadia	UTSW	15	66,508,669 (GRCm39)	missense	possibly damaging	0.85
curt	UTSW	15	66,511,797 (GRCm39)	missense	possibly damaging	0.90
Cut	UTSW	15	66,484,888 (GRCm39)	nonsense	probably null
shorthand	UTSW	15	66,481,396 (GRCm39)	missense	probably damaging	1.00
slang	UTSW	15	66,513,781 (GRCm39)	missense	probably benign	0.03
PIT4305001:Phf20l1	UTSW	15	66,484,901 (GRCm39)	missense	possibly damaging	0.94
R0070:Phf20l1	UTSW	15	66,511,840 (GRCm39)	missense	probably damaging	1.00
R0070:Phf20l1	UTSW	15	66,511,840 (GRCm39)	missense	probably damaging	1.00
R0562:Phf20l1	UTSW	15	66,481,453 (GRCm39)	missense	probably damaging	1.00
R0605:Phf20l1	UTSW	15	66,466,971 (GRCm39)	missense	probably damaging	1.00
R0787:Phf20l1	UTSW	15	66,487,479 (GRCm39)	splice site	probably benign
R1458:Phf20l1	UTSW	15	66,476,662 (GRCm39)	missense	probably damaging	1.00
R1619:Phf20l1	UTSW	15	66,487,108 (GRCm39)	missense	possibly damaging	0.88
R1781:Phf20l1	UTSW	15	66,504,674 (GRCm39)	missense	probably damaging	1.00
R2360:Phf20l1	UTSW	15	66,466,769 (GRCm39)	missense	probably damaging	1.00
R3973:Phf20l1	UTSW	15	66,513,665 (GRCm39)	missense	probably damaging	1.00
R4374:Phf20l1	UTSW	15	66,476,686 (GRCm39)	missense	possibly damaging	0.72
R4375:Phf20l1	UTSW	15	66,487,071 (GRCm39)	missense	probably benign	0.00
R4554:Phf20l1	UTSW	15	66,469,216 (GRCm39)	missense	probably damaging	1.00
R4913:Phf20l1	UTSW	15	66,476,704 (GRCm39)	missense	probably benign	0.03
R5092:Phf20l1	UTSW	15	66,508,762 (GRCm39)	missense	possibly damaging	0.46
R5491:Phf20l1	UTSW	15	66,487,634 (GRCm39)	missense	possibly damaging	0.67
R5713:Phf20l1	UTSW	15	66,508,669 (GRCm39)	missense	possibly damaging	0.85
R6126:Phf20l1	UTSW	15	66,508,673 (GRCm39)	missense	probably benign	0.02
R6213:Phf20l1	UTSW	15	66,504,752 (GRCm39)	critical splice donor site	probably null
R6569:Phf20l1	UTSW	15	66,501,673 (GRCm39)	missense	probably damaging	1.00
R6572:Phf20l1	UTSW	15	66,481,396 (GRCm39)	missense	probably damaging	1.00
R6808:Phf20l1	UTSW	15	66,502,762 (GRCm39)	missense	probably damaging	0.99
R7100:Phf20l1	UTSW	15	66,476,689 (GRCm39)	missense	probably benign	0.01
R7208:Phf20l1	UTSW	15	66,476,638 (GRCm39)	missense	probably benign	0.05
R7436:Phf20l1	UTSW	15	66,469,599 (GRCm39)	missense	possibly damaging	0.92
R7466:Phf20l1	UTSW	15	66,508,733 (GRCm39)	missense	probably damaging	1.00
R7604:Phf20l1	UTSW	15	66,475,933 (GRCm39)	missense	probably benign	0.02
R7863:Phf20l1	UTSW	15	66,487,084 (GRCm39)	missense	possibly damaging	0.94
R7991:Phf20l1	UTSW	15	66,502,768 (GRCm39)	missense	possibly damaging	0.64
R8015:Phf20l1	UTSW	15	66,511,797 (GRCm39)	missense	possibly damaging	0.90
R8161:Phf20l1	UTSW	15	66,475,922 (GRCm39)	missense	probably damaging	1.00
R8228:Phf20l1	UTSW	15	66,511,789 (GRCm39)	missense	possibly damaging	0.81
R8857:Phf20l1	UTSW	15	66,513,781 (GRCm39)	missense	probably benign	0.03
R9295:Phf20l1	UTSW	15	66,513,752 (GRCm39)	missense	probably damaging	1.00
R9393:Phf20l1	UTSW	15	66,475,955 (GRCm39)	missense	probably damaging	1.00
R9442:Phf20l1	UTSW	15	66,484,888 (GRCm39)	nonsense	probably null
R9522:Phf20l1	UTSW	15	66,504,669 (GRCm39)	missense	possibly damaging	0.89
R9727:Phf20l1	UTSW	15	66,487,231 (GRCm39)	missense	probably benign	0.01
X0065:Phf20l1	UTSW	15	66,501,655 (GRCm39)	nonsense	probably null
X0065:Phf20l1	UTSW	15	66,469,527 (GRCm39)	missense	probably damaging	0.99

Posted On

2011-07-12