Mutagenetix > Incidental Mutation

Incidental Mutation 'R0183:Phf19'

23852

Institutional Source

Beutler Lab

Gene Symbol

Phf19

Ensembl Gene

ENSMUSG00000026873

Gene Name

PHD finger protein 19

Synonyms

3321402G02Rik, 3110009G19Rik

MMRRC Submission

038448-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0183 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

34783769-34804038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34801214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 75 (N75S)

Ref Sequence

ENSEMBL: ENSMUSP00000143954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028232] [ENSMUST00000202907]

AlphaFold

Q9CXG9

Predicted Effect

probably benign
Transcript: ENSMUST00000028232
AA Change: N75S

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028232
Gene: ENSMUSG00000026873
AA Change: N75S

Domain	Start	End	E-Value	Type
TUDOR	36	93	2.33e-8	SMART
PHD	96	147	2.87e-5	SMART
low complexity region	154	165	N/A	INTRINSIC
PHD	195	245	2.11e-3	SMART
low complexity region	382	395	N/A	INTRINSIC
low complexity region	442	464	N/A	INTRINSIC
Pfam:Mtf2_C	529	576	5.2e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143469

Predicted Effect

probably damaging
Transcript: ENSMUST00000202907
AA Change: N75S

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

SMART Domains

Protein: ENSMUSP00000143954
Gene: ENSMUSG00000026873
AA Change: N75S

Domain	Start	End	E-Value	Type
TUDOR	36	88	2.8e-7	SMART

Meta Mutation Damage Score

0.0992

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

84% (42/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	T	5: 77,034,082 (GRCm39)	D490N	probably benign	Het
Aatf	A	T	11: 84,401,251 (GRCm39)		probably null	Het
Amer3	T	A	1: 34,626,838 (GRCm39)	I359K	probably damaging	Het
Appl1	A	T	14: 26,684,811 (GRCm39)	D79E	probably damaging	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Baz1a	T	A	12: 54,958,172 (GRCm39)	E1026D	probably damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Card14	C	T	11: 119,217,524 (GRCm39)	R386C	probably damaging	Het
Cenpb	T	C	2: 131,020,373 (GRCm39)		probably benign	Het
Clcn4	G	A	7: 7,298,090 (GRCm39)	Q40*	probably null	Het
Clec16a	T	C	16: 10,377,886 (GRCm39)	Y28H	probably damaging	Het
Cul4a	T	C	8: 13,183,790 (GRCm39)	S393P	probably damaging	Het
Dcbld2	A	G	16: 58,265,722 (GRCm39)	D194G	possibly damaging	Het
Dnah6	C	T	6: 73,059,906 (GRCm39)	V2841I	probably damaging	Het
Eaf1	T	A	14: 31,217,272 (GRCm39)	L16Q	probably damaging	Het
Eef1e1	C	T	13: 38,840,162 (GRCm39)	A48T	probably damaging	Het
Exoc3l	C	A	8: 106,021,932 (GRCm39)	R57L	probably damaging	Het
Faf1	A	G	4: 109,792,807 (GRCm39)	N593S	probably benign	Het
Fosb	A	G	7: 19,041,310 (GRCm39)	I61T	probably damaging	Het
Fstl5	A	C	3: 76,229,579 (GRCm39)	I127L	possibly damaging	Het
Gas2l2	T	A	11: 83,319,882 (GRCm39)	M125L	probably benign	Het
Gcnt1	C	T	19: 17,306,481 (GRCm39)	D415N	probably benign	Het
Gtpbp4	A	G	13: 9,024,997 (GRCm39)	M531T	probably benign	Het
Gucy1b2	T	A	14: 62,656,589 (GRCm39)	K256M	probably damaging	Het
Igf2bp2	A	T	16: 21,897,480 (GRCm39)	Y244*	probably null	Het
Jkamp	T	C	12: 72,140,809 (GRCm39)	I118T	possibly damaging	Het
Kalrn	A	T	16: 33,991,749 (GRCm39)		probably null	Het
Kcnma1	A	T	14: 23,558,120 (GRCm39)	D317E	probably damaging	Het
Lipo2	A	T	19: 33,726,951 (GRCm39)		probably null	Het
Lrig3	T	A	10: 125,846,061 (GRCm39)	I830K	probably damaging	Het
Map3k4	A	G	17: 12,454,015 (GRCm39)	I1429T	probably damaging	Het
Mkks	G	A	2: 136,722,606 (GRCm39)	L184F	probably benign	Het
Mmp19	C	T	10: 128,634,872 (GRCm39)	T424I	possibly damaging	Het
Mrps23	A	G	11: 88,100,980 (GRCm39)	E57G	probably damaging	Het
Myh7	T	C	14: 55,216,333 (GRCm39)	T1282A	probably benign	Het
Or2y10	A	G	11: 49,455,675 (GRCm39)	D309G	probably benign	Het
Or8k1	T	A	2: 86,047,173 (GRCm39)	S294C	probably damaging	Het
Pink1	T	G	4: 138,041,490 (GRCm39)	H477P	probably damaging	Het
Ppp6r2	G	A	15: 89,169,990 (GRCm39)	C835Y	probably damaging	Het
Prkcq	T	C	2: 11,257,973 (GRCm39)	I295T	probably damaging	Het
Ptpn13	T	C	5: 103,664,274 (GRCm39)	S421P	probably benign	Het
Ptpn6	A	G	6: 124,705,914 (GRCm39)	S77P	probably damaging	Het
Ptpre	G	T	7: 135,271,574 (GRCm39)	M389I	probably benign	Het
Ranbp9	T	C	13: 43,578,599 (GRCm39)	D158G	probably damaging	Het
Sec14l3	C	T	11: 4,025,547 (GRCm39)	S357L	probably benign	Het
Slc1a6	A	G	10: 78,627,067 (GRCm39)	T135A	probably damaging	Het
Spef2	A	T	15: 9,716,445 (GRCm39)	D323E	possibly damaging	Het
Taf2	T	A	15: 54,919,186 (GRCm39)	K396N	possibly damaging	Het
Tcf12	A	T	9: 71,824,309 (GRCm39)	V94E	probably damaging	Het
Trim24	T	A	6: 37,920,415 (GRCm39)	I404N	possibly damaging	Het

Other mutations in Phf19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01528:Phf19	APN	2	34,787,119 (GRCm39)	missense	probably damaging	0.99
IGL01862:Phf19	APN	2	34,787,067 (GRCm39)	critical splice donor site	probably null
R0079:Phf19	UTSW	2	34,785,966 (GRCm39)	missense	probably benign
R1289:Phf19	UTSW	2	34,786,042 (GRCm39)	missense	probably benign
R1632:Phf19	UTSW	2	34,801,631 (GRCm39)	missense	probably damaging	1.00
R1829:Phf19	UTSW	2	34,801,781 (GRCm39)	missense	probably benign	0.00
R2057:Phf19	UTSW	2	34,789,620 (GRCm39)	missense	probably benign	0.06
R2475:Phf19	UTSW	2	34,785,807 (GRCm39)	missense	probably benign
R3039:Phf19	UTSW	2	34,795,534 (GRCm39)	missense	probably benign	0.26
R3803:Phf19	UTSW	2	34,789,670 (GRCm39)	missense	probably damaging	0.99
R3804:Phf19	UTSW	2	34,789,670 (GRCm39)	missense	probably damaging	0.99
R4885:Phf19	UTSW	2	34,789,718 (GRCm39)	missense	probably damaging	0.99
R5759:Phf19	UTSW	2	34,787,135 (GRCm39)	missense	probably damaging	1.00
R6061:Phf19	UTSW	2	34,787,129 (GRCm39)	missense	probably damaging	1.00
R6949:Phf19	UTSW	2	34,794,143 (GRCm39)	missense	probably damaging	1.00
R7080:Phf19	UTSW	2	34,788,724 (GRCm39)	splice site	probably null
R7730:Phf19	UTSW	2	34,785,816 (GRCm39)	missense	probably damaging	1.00
R7956:Phf19	UTSW	2	34,796,567 (GRCm39)	missense	possibly damaging	0.84
R8900:Phf19	UTSW	2	34,795,484 (GRCm39)	missense	probably damaging	0.99
R9500:Phf19	UTSW	2	34,801,708 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CGCCTGAAGTGTGAGCATTCAGAAC -3'
(R):5'- GCTCTTCTGTCCTTAAAAGCAGCCC -3'

Sequencing Primer
(F):5'- TGTGAGCATTCAGAACAGAGATCC -3'
(R):5'- AGCCCCATTAAGTGGTGC -3'

Posted On

2013-04-16