Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00954:Phf20l1'

29083

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: 0.211) question?

Stock #

IGL00954

Quality Score

Status

Chromosome

Chromosomal Location

66449409-66519825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66513757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 978 (V978I)

Ref Sequence

ENSEMBL: ENSMUSP00000155465 (fasta)

Gene Model

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

AlphaFold

Q8CCJ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000048188
AA Change: V1005I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: V1005I

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 damaging
Transcript: ENSMUST00000229160
AA Change: V1004I

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000229576

Predicted Effect

probably damaging
Transcript: ENSMUST00000230948
AA Change: V978I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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
Ablim3	C	T	18: 61,972,756 (GRCm39)		probably benign	Het
Alox5	A	T	6: 116,431,260 (GRCm39)	V56D	probably damaging	Het
Atp1a2	A	G	1: 172,118,201 (GRCm39)	S158P	probably damaging	Het
B3glct	T	A	5: 149,619,902 (GRCm39)	M19K	probably benign	Het
BC049715	A	T	6: 136,817,093 (GRCm39)	E111V	possibly damaging	Het
Casp8ap2	C	A	4: 32,645,403 (GRCm39)	T1492K	probably damaging	Het
Cfap221	T	C	1: 119,861,939 (GRCm39)	E612G	probably damaging	Het
Cttnbp2	C	A	6: 18,381,061 (GRCm39)	K868N	possibly damaging	Het
Dpy19l2	T	A	9: 24,494,114 (GRCm39)	N672I	probably damaging	Het
Ei24	A	T	9: 36,701,166 (GRCm39)	I51N	probably damaging	Het
Gdi2	T	C	13: 3,606,467 (GRCm39)	V181A	probably benign	Het
Ggt1	G	A	10: 75,420,697 (GRCm39)	R354Q	probably benign	Het
Hao1	A	G	2: 134,340,181 (GRCm39)	I370T	possibly damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Jag2	G	T	12: 112,884,026 (GRCm39)	S184R	possibly damaging	Het
Kctd16	A	G	18: 40,391,853 (GRCm39)	D147G	probably benign	Het
Kiss1r	T	C	10: 79,757,834 (GRCm39)	L396P	probably damaging	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Lrrc66	G	T	5: 73,765,741 (GRCm39)	T434K	possibly damaging	Het
Macroh2a1	A	G	13: 56,222,132 (GRCm39)	S340P	possibly damaging	Het
Mcm5	A	T	8: 75,836,740 (GRCm39)	N64Y	possibly damaging	Het
Mroh2b	A	T	15: 4,932,536 (GRCm39)	Y54F	probably damaging	Het
Or10al6	T	A	17: 38,083,505 (GRCm39)	N329K	probably benign	Het
Or7g18	T	A	9: 18,787,369 (GRCm39)	S249T	probably benign	Het
Osgep	T	A	14: 51,153,619 (GRCm39)	I320F	probably benign	Het
Pcdh18	T	A	3: 49,710,838 (GRCm39)	D159V	probably damaging	Het
Phospho1	T	A	11: 95,721,909 (GRCm39)	V193E	probably damaging	Het
Pip4k2b	T	C	11: 97,635,331 (GRCm39)	K34E	probably damaging	Het
Plb1	T	C	5: 32,455,858 (GRCm39)		probably benign	Het
Safb2	A	G	17: 56,885,639 (GRCm39)		probably null	Het
Sgsh	T	A	11: 119,237,311 (GRCm39)	E434D	probably benign	Het
Tkt	C	T	14: 30,291,052 (GRCm39)	H355Y	probably damaging	Het
Tmem128	A	G	5: 38,419,389 (GRCm39)	N47S	probably damaging	Het
Tmem232	A	G	17: 65,807,148 (GRCm39)	I15T	probably damaging	Het
Tns1	A	C	1: 73,964,128 (GRCm39)	V1501G	probably damaging	Het
Vmn2r24	G	A	6: 123,792,596 (GRCm39)	C641Y	probably damaging	Het
Vmn2r77	A	G	7: 86,449,975 (GRCm39)	T74A	probably benign	Het
Zfp820	T	C	17: 22,038,860 (GRCm39)	Y156C	probably damaging	Het

Other mutations in Phf20l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Phf20l1	APN	15	66,500,884 (GRCm39)	missense	probably benign	0.28
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
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

2013-04-17