Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01862:Phf19'

178406

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phf19

Ensembl Gene

ENSMUSG00000026873

Gene Name

PHD finger protein 19

Synonyms

3321402G02Rik, 3110009G19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01862

Quality Score

Status

Chromosome

Chromosomal Location

34783769-34804038 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 34787067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028228] [ENSMUST00000028232] [ENSMUST00000047447] [ENSMUST00000113068] [ENSMUST00000184164]

AlphaFold

Q9CXG9

Predicted Effect

probably benign
Transcript: ENSMUST00000028228

SMART Domains

Protein: ENSMUSP00000028228
Gene: ENSMUSG00000026870

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:CutA1	53	109	2.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000028228

SMART Domains

Protein: ENSMUSP00000144258
Gene: ENSMUSG00000026870

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:CutA1	54	110	9e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000028232

SMART Domains

Protein: ENSMUSP00000028232
Gene: ENSMUSG00000026873

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

probably benign
Transcript: ENSMUST00000047447

SMART Domains

Protein: ENSMUSP00000038452
Gene: ENSMUSG00000026870

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:CutA1	54	152	6e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113068

SMART Domains

Protein: ENSMUSP00000108691
Gene: ENSMUSG00000026870

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:CutA1	53	154	1.9e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128394

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129911

Predicted Effect

probably benign
Transcript: ENSMUST00000184164

SMART Domains

Protein: ENSMUSP00000144477
Gene: ENSMUSG00000026870

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:CutA1	54	152	6e-33	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,837,997 (GRCm39)	S1085*	probably null	Het
Akap9	T	G	5: 4,001,705 (GRCm39)	S94A	probably damaging	Het
Akap9	T	A	5: 4,115,856 (GRCm39)	N3425K	probably damaging	Het
Anapc7	T	A	5: 122,578,182 (GRCm39)	I389N	probably benign	Het
Aqp7	G	A	4: 41,045,321 (GRCm39)	R20*	probably null	Het
Cacna1h	C	T	17: 25,602,457 (GRCm39)	G1524R	probably damaging	Het
Cacng4	T	C	11: 107,685,196 (GRCm39)	Y32C	probably damaging	Het
Cep120	A	C	18: 53,847,839 (GRCm39)	S673R	probably benign	Het
Cep162	T	C	9: 87,135,986 (GRCm39)	E19G	possibly damaging	Het
Cpxm2	C	T	7: 131,661,540 (GRCm39)	V416I	probably benign	Het
Dapk1	A	G	13: 60,874,424 (GRCm39)	T427A	probably benign	Het
Ecm1	A	T	3: 95,641,586 (GRCm39)	D549E	probably benign	Het
Efemp1	T	A	11: 28,871,428 (GRCm39)	N342K	probably damaging	Het
Erc2	T	C	14: 27,993,526 (GRCm39)		probably benign	Het
Fhip2b	C	T	14: 70,825,130 (GRCm39)	R402H	probably benign	Het
Galnt13	T	C	2: 54,747,926 (GRCm39)	V269A	probably damaging	Het
Gm6465	T	G	5: 11,899,020 (GRCm39)	L171R	probably damaging	Het
Gpatch1	A	G	7: 34,994,703 (GRCm39)	V521A	probably benign	Het
Heatr5b	A	T	17: 79,103,914 (GRCm39)	V1087E	possibly damaging	Het
Ikzf2	A	T	1: 69,578,057 (GRCm39)	V484D	probably damaging	Het
Ints4	T	A	7: 97,190,360 (GRCm39)	V953E	probably damaging	Het
Iqce	T	C	5: 140,685,480 (GRCm39)	D15G	possibly damaging	Het
Kif3a	T	A	11: 53,461,368 (GRCm39)	N4K	possibly damaging	Het
Lrch4	A	T	5: 137,635,271 (GRCm39)	I254F	probably damaging	Het
Ly75	A	T	2: 60,129,516 (GRCm39)	V1623D	probably damaging	Het
Mapt	T	A	11: 104,180,828 (GRCm39)		probably benign	Het
Mast1	A	T	8: 85,639,875 (GRCm39)		probably null	Het
Mcc	G	T	18: 44,892,363 (GRCm39)	Q84K	probably benign	Het
Mgat4f	G	A	1: 134,318,349 (GRCm39)	V374I	probably benign	Het
Mtfr2	G	A	10: 20,224,149 (GRCm39)	V28M	probably benign	Het
Myh8	T	A	11: 67,180,520 (GRCm39)	Y585*	probably null	Het
Napsa	T	C	7: 44,231,917 (GRCm39)	V202A	probably damaging	Het
Nsd2	A	G	5: 34,001,080 (GRCm39)	K199R	probably null	Het
Ntpcr	C	T	8: 126,462,837 (GRCm39)	A18V	probably benign	Het
Or2aj4	A	T	16: 19,385,426 (GRCm39)	M69K	probably damaging	Het
Or2g25	G	T	17: 37,970,368 (GRCm39)	N285K	probably damaging	Het
Or56b35	T	A	7: 104,963,439 (GRCm39)	I76N	probably damaging	Het
Or5g9	G	T	2: 85,552,472 (GRCm39)	C241F	probably damaging	Het
Or8b9	A	G	9: 37,766,477 (GRCm39)	D121G	probably damaging	Het
Os9	A	G	10: 126,935,573 (GRCm39)	V299A	probably benign	Het
Pcdhb7	T	C	18: 37,476,915 (GRCm39)	S684P	possibly damaging	Het
Pkd1l3	G	A	8: 110,357,908 (GRCm39)		probably null	Het
Pkhd1	A	G	1: 20,429,134 (GRCm39)	I2422T	probably damaging	Het
Plxna2	T	A	1: 194,326,258 (GRCm39)	V64E	possibly damaging	Het
Psme4	T	A	11: 30,762,038 (GRCm39)	C459*	probably null	Het
Ptk6	T	C	2: 180,841,433 (GRCm39)	S159G	probably benign	Het
Rhd	T	C	4: 134,617,650 (GRCm39)	I329T	possibly damaging	Het
Scfd1	A	G	12: 51,492,494 (GRCm39)	Y601C	probably damaging	Het
Shroom3	T	C	5: 93,110,148 (GRCm39)	S1753P	probably damaging	Het
Slc8a1	A	C	17: 81,749,630 (GRCm39)		probably null	Het
Spg7	T	A	8: 123,803,669 (GRCm39)	L233Q	probably damaging	Het
Strip1	C	A	3: 107,529,198 (GRCm39)	R353L	probably damaging	Het
Ubr1	T	C	2: 120,764,823 (GRCm39)	N544D	possibly damaging	Het
Ubr4	A	G	4: 139,204,469 (GRCm39)	T4794A	possibly damaging	Het
Usp24	A	G	4: 106,266,095 (GRCm39)		probably benign	Het
Vmn1r193	A	T	13: 22,403,984 (GRCm39)	C3S	probably benign	Het
Yju2b	G	T	8: 84,987,163 (GRCm39)		probably benign	Het
Zdhhc5	C	T	2: 84,520,836 (GRCm39)	R447H	probably benign	Het
Zfp202	A	G	9: 40,123,124 (GRCm39)	I629V	probably benign	Het
Zfp462	T	A	4: 55,023,441 (GRCm39)	C990S	probably 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
R0079:Phf19	UTSW	2	34,785,966 (GRCm39)	missense	probably benign
R0183:Phf19	UTSW	2	34,801,214 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-05-07