Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02273:Phf20l1'

287258

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 #

IGL02273

Quality Score

Status

Chromosome

Chromosomal Location

66449409-66519825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66511874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 951 (V951E)

Ref Sequence

ENSEMBL: ENSMUSP00000035682 (fasta)

Gene Model

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

AlphaFold

Q8CCJ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000048188
AA Change: V951E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: V951E

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: V950E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230250

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230948
AA Change: V924E

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231177

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	T	C	7: 126,429,931 (GRCm39)	T89A	probably benign	Het
Amhr2	T	C	15: 102,360,924 (GRCm39)	V353A	probably benign	Het
Bbox1	A	T	2: 110,105,961 (GRCm39)	Y194*	probably null	Het
Bltp1	T	A	3: 36,975,586 (GRCm39)		probably benign	Het
Bnipl	C	A	3: 95,153,086 (GRCm39)	R131L	possibly damaging	Het
Casp8ap2	T	C	4: 32,643,974 (GRCm39)	S1016P	probably damaging	Het
Cblb	A	G	16: 51,867,657 (GRCm39)	I88M	possibly damaging	Het
Cyp24a1	A	T	2: 170,338,278 (GRCm39)	Y89N	probably damaging	Het
Ddx25	G	T	9: 35,458,122 (GRCm39)	N332K	possibly damaging	Het
Dnaaf5	C	T	5: 139,163,671 (GRCm39)	Q348*	probably null	Het
Dnah3	A	T	7: 119,550,494 (GRCm39)	I3264N	probably damaging	Het
Eml4	T	A	17: 83,763,808 (GRCm39)		probably null	Het
Farsa	C	T	8: 85,594,455 (GRCm39)	A368V	probably damaging	Het
Fat1	T	C	8: 45,403,368 (GRCm39)	Y40H	probably damaging	Het
Glt1d1	T	A	5: 127,734,208 (GRCm39)		probably benign	Het
Gm5422	A	G	10: 31,126,003 (GRCm39)		noncoding transcript	Het
Gpr135	A	G	12: 72,116,732 (GRCm39)	I345T	probably damaging	Het
Hmcn2	G	A	2: 31,314,389 (GRCm39)	V3616I	probably benign	Het
Kif9	A	T	9: 110,339,538 (GRCm39)	K460M	probably damaging	Het
Ldhd	T	C	8: 112,353,922 (GRCm39)	E426G	probably benign	Het
Mdh1	A	T	11: 21,509,786 (GRCm39)	N196K	probably benign	Het
Nfkb1	A	T	3: 135,310,968 (GRCm39)	C444S	probably benign	Het
Pfkfb2	G	A	1: 130,635,319 (GRCm39)	R81C	probably damaging	Het
Pfpl	T	C	19: 12,407,327 (GRCm39)	V526A	possibly damaging	Het
Pik3cg	A	T	12: 32,226,809 (GRCm39)	L1026Q	probably damaging	Het
Pms1	T	C	1: 53,247,156 (GRCm39)	N263S	probably damaging	Het
Prkcb	T	A	7: 122,226,990 (GRCm39)	F659I	probably damaging	Het
Prr14	A	G	7: 127,075,108 (GRCm39)	I69M	probably damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Senp5	T	C	16: 31,808,690 (GRCm39)	H161R	probably benign	Het
Spc25	A	G	2: 69,035,273 (GRCm39)		probably benign	Het
Spty2d1	A	G	7: 46,647,321 (GRCm39)	V536A	probably damaging	Het
Susd2	A	G	10: 75,476,772 (GRCm39)	S84P	possibly damaging	Het
Tacc1	A	C	8: 25,649,797 (GRCm39)	L768V	probably damaging	Het
Tbpl2	A	T	2: 23,986,531 (GRCm39)	I5N	probably benign	Het
Tmc2	A	G	2: 130,071,126 (GRCm39)	D285G	probably damaging	Het
Tns3	A	T	11: 8,384,531 (GRCm39)	V1429E	probably damaging	Het
Trmt44	T	C	5: 35,731,457 (GRCm39)	Y190C	probably damaging	Het
Ubr4	G	A	4: 139,199,889 (GRCm39)	R4591H	possibly damaging	Het
Zfc3h1	T	A	10: 115,263,004 (GRCm39)	D1739E	probably benign	Het
Zfp26	A	G	9: 20,352,744 (GRCm39)	V107A	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
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
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

2015-04-16