Mutagenetix > Incidental Mutation

Incidental Mutation 'R5491:Phf20l1'

432095

Institutional Source

Beutler Lab

Gene Symbol

Phf20l1

Ensembl Gene

ENSMUSG00000072501

Gene Name

PHD finger protein 20-like 1

Synonyms

E130113K22Rik, CGI-72

MMRRC Submission

043052-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R5491 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66449409-66519825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66487634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 480 (P480L)

Ref Sequence

ENSEMBL: ENSMUSP00000155465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048188] [ENSMUST00000229160] [ENSMUST00000229576] [ENSMUST00000230882] [ENSMUST00000230948]

AlphaFold

Q8CCJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000048188
AA Change: P507L

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: P507L

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

probably benign
Transcript: ENSMUST00000229160
AA Change: P506L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229486

Predicted Effect

probably benign
Transcript: ENSMUST00000229576
AA Change: P507L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230250

Predicted Effect

probably benign
Transcript: ENSMUST00000230882

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230948
AA Change: P480L

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230915

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 95.0%
20x: 89.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	T	19: 31,895,462 (GRCm39)	A182S	possibly damaging	Het
Aldh1l2	A	T	10: 83,358,649 (GRCm39)	D2E	probably benign	Het
Bach2	G	T	4: 32,562,681 (GRCm39)	D383Y	probably damaging	Het
Cd248	T	C	19: 5,120,237 (GRCm39)	L695P	probably damaging	Het
Cela1	T	A	15: 100,580,861 (GRCm39)	N132Y	probably damaging	Het
Cisd2	A	T	3: 135,114,601 (GRCm39)	D123E	probably damaging	Het
Col6a6	T	A	9: 105,615,435 (GRCm39)	D1571V	probably damaging	Het
Eif4a3l1	C	G	6: 136,306,555 (GRCm39)	R339G	probably damaging	Het
Fbxo48	C	T	11: 16,904,280 (GRCm39)	T144M	probably damaging	Het
Fbxo7	C	A	10: 85,883,890 (GRCm39)	P497Q	probably damaging	Het
Garin5b	T	C	7: 4,760,925 (GRCm39)	I596V	probably benign	Het
Gm12695	T	A	4: 96,657,905 (GRCm39)	H88L	possibly damaging	Het
Gpat4	A	G	8: 23,670,680 (GRCm39)	I133T	probably benign	Het
Hmcn1	C	T	1: 150,485,576 (GRCm39)		probably null	Het
Ncaph	T	C	2: 126,965,595 (GRCm39)	T252A	probably benign	Het
Nebl	G	T	2: 17,439,783 (GRCm39)	Y163*	probably null	Het
Neurod4	C	T	10: 130,106,936 (GRCm39)	V113I	possibly damaging	Het
Or13j1	A	G	4: 43,705,990 (GRCm39)	S193P	probably damaging	Het
Or3a1d	A	T	11: 74,237,740 (GRCm39)	H103Q	probably benign	Het
Or4f56	T	A	2: 111,703,907 (GRCm39)	I98F	probably benign	Het
Pbxip1	T	A	3: 89,350,466 (GRCm39)	M37K	probably benign	Het
Phactr2	T	C	10: 13,137,590 (GRCm39)	N184S	possibly damaging	Het
Psme4	T	C	11: 30,765,246 (GRCm39)	S538P	possibly damaging	Het
Rassf1	T	A	9: 107,438,614 (GRCm39)	M228K	possibly damaging	Het
Rpn2	A	G	2: 157,139,303 (GRCm39)	D231G	probably damaging	Het
She	A	T	3: 89,739,097 (GRCm39)	D96V	probably damaging	Het
Shisal1	C	A	15: 84,290,711 (GRCm39)	V199L	probably benign	Het
Tmem260	T	A	14: 48,749,627 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,562,702 (GRCm39)	I28751F	probably damaging	Het
Zfp60	T	G	7: 27,447,940 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTGCACTGATATGAACTGATCGAG -3'
(R):5'- TGTTCAGAGAATACTGACAATGGTC -3'

Sequencing Primer
(F):5'- CGAGTTCCTTTGTGTTAATATGATGG -3'
(R):5'- GAGAAATTCCATCTGAACACAGTAAC -3'

Posted On

2016-10-05