Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00907:Phf24'

27217

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phf24

Ensembl Gene

ENSMUSG00000036062

Gene Name

PHD finger protein 24

Synonyms

N28178, GINIP

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00907

Quality Score

Status

Chromosome

Chromosomal Location

42916660-42944752 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42938667 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 264 (T264I)

Ref Sequence

ENSEMBL: ENSMUSP00000103610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069184] [ENSMUST00000107975] [ENSMUST00000107976] [ENSMUST00000124380] [ENSMUST00000132173] [ENSMUST00000139100]

Predicted Effect

probably benign
Transcript: ENSMUST00000069184
AA Change: T264I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000071011
Gene: ENSMUSG00000036062
AA Change: T264I

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
PDB:1WIL\|A	86	161	9e-49	PDB
SCOP:d1el4a_	158	282	3e-4	SMART
low complexity region	308	319	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107975
AA Change: T301I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103609
Gene: ENSMUSG00000036062
AA Change: T301I

Domain	Start	End	E-Value	Type
low complexity region	51	64	N/A	INTRINSIC
Pfam:Zf_RING	126	198	2e-41	PFAM
low complexity region	243	254	N/A	INTRINSIC
low complexity region	273	290	N/A	INTRINSIC
low complexity region	345	356	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107976
AA Change: T264I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000103610
Gene: ENSMUSG00000036062
AA Change: T264I

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
PDB:1WIL\|A	86	161	9e-49	PDB
SCOP:d1el4a_	158	282	3e-4	SMART
low complexity region	308	319	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124380

Predicted Effect

unknown
Transcript: ENSMUST00000131234
AA Change: T59I

Predicted Effect

probably benign
Transcript: ENSMUST00000132173

SMART Domains

Protein: ENSMUSP00000138443
Gene: ENSMUSG00000036062

Domain	Start	End	E-Value	Type
low complexity region	51	64	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000138425
AA Change: T185I

SMART Domains

Protein: ENSMUSP00000115816
Gene: ENSMUSG00000036062
AA Change: T185I

Domain	Start	End	E-Value	Type
Pfam:Zf_RING	27	74	1.4e-24	PFAM
SCOP:d1el4a_	80	204	2e-4	SMART
low complexity region	230	241	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151824

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele develop a selective and prolonged mechanical hypersensitivity in models of inflammation and neuropathy and show impaired baclofen-mediated analgesia following nerve injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armt1	A	G	10: 4,454,051	F379V	possibly damaging	Het
Atp8b1	T	C	18: 64,561,705	D502G	possibly damaging	Het
Brwd3	A	G	X: 108,784,246		probably benign	Het
Ccdc171	T	A	4: 83,864,249	H1259Q	probably damaging	Het
Chd7	T	C	4: 8,840,435	I1401T	probably damaging	Het
Csf1	T	C	3: 107,750,346	N76S	probably damaging	Het
Dld	A	G	12: 31,332,330		probably benign	Het
Eif5	T	A	12: 111,540,555	I141N	probably damaging	Het
Etl4	G	A	2: 20,766,478	G674D	possibly damaging	Het
Fam234a	G	A	17: 26,213,526	R550W	probably damaging	Het
Hipk2	A	G	6: 38,818,273	S347P	probably damaging	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Hsd17b2	A	T	8: 117,734,694	I157L	probably benign	Het
Ibtk	A	G	9: 85,690,331	S1269P	possibly damaging	Het
Igsf3	T	C	3: 101,427,448		probably benign	Het
Kin	G	A	2: 10,080,704	R25H	probably damaging	Het
Kin	T	C	2: 10,080,706	W26R	probably damaging	Het
Kir3dl1	G	A	X: 136,525,162	C95Y	probably damaging	Het
Lamc2	A	G	1: 153,144,651	V383A	probably benign	Het
Mael	A	G	1: 166,204,849	Y314H	probably damaging	Het
Npat	T	C	9: 53,563,290	V794A	possibly damaging	Het
Nr4a2	T	A	2: 57,109,217	I340F	probably damaging	Het
Olfr1195	A	G	2: 88,683,294	V146A	probably benign	Het
Olfr477	A	T	7: 107,990,890	D175V	probably damaging	Het
Olfr836	T	A	9: 19,121,232	D89E	possibly damaging	Het
Pdcd11	T	C	19: 47,107,564	V641A	probably benign	Het
Sars2	G	T	7: 28,753,423		probably benign	Het
Scn1a	A	C	2: 66,327,797	S411A	probably damaging	Het
Srsf5	T	C	12: 80,947,834	V112A	probably damaging	Het
Susd2	T	C	10: 75,640,931	N206S	probably benign	Het
Thrap3	C	T	4: 126,165,578	G892S	probably benign	Het
Ttc32	T	A	12: 9,034,953	Y58N	probably damaging	Het

Other mutations in Phf24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Phf24	APN	4	42933905	missense	possibly damaging	0.76
BB004:Phf24	UTSW	4	42934774	missense	probably damaging	0.99
BB014:Phf24	UTSW	4	42934774	missense	probably damaging	0.99
R0110:Phf24	UTSW	4	42933761	missense	possibly damaging	0.81
R0355:Phf24	UTSW	4	42933891	missense	probably damaging	1.00
R0450:Phf24	UTSW	4	42933761	missense	possibly damaging	0.81
R0469:Phf24	UTSW	4	42933761	missense	possibly damaging	0.81
R1335:Phf24	UTSW	4	42934657	missense	probably benign	0.00
R1447:Phf24	UTSW	4	42938232	nonsense	probably null
R1824:Phf24	UTSW	4	42934661	missense	probably damaging	1.00
R1918:Phf24	UTSW	4	42938165	unclassified	probably benign
R2075:Phf24	UTSW	4	42939507	missense	possibly damaging	0.95
R3111:Phf24	UTSW	4	42938316	missense	probably benign	0.00
R3548:Phf24	UTSW	4	42937879	nonsense	probably null
R4422:Phf24	UTSW	4	42934817	missense	probably damaging	1.00
R4803:Phf24	UTSW	4	42933731	missense	probably damaging	1.00
R5287:Phf24	UTSW	4	42933831	splice site	probably null
R5403:Phf24	UTSW	4	42933831	splice site	probably null
R6025:Phf24	UTSW	4	42938780	splice site	probably null
R6309:Phf24	UTSW	4	42933960	missense	probably damaging	1.00
R7165:Phf24	UTSW	4	42938325	missense	probably benign
R7927:Phf24	UTSW	4	42934774	missense	probably damaging	0.99
R8355:Phf24	UTSW	4	42933735	missense	probably benign	0.00
R8413:Phf24	UTSW	4	42937906	nonsense	probably null
R8426:Phf24	UTSW	4	42933785	nonsense	probably null
X0026:Phf24	UTSW	4	42939084	critical splice acceptor site	probably null

Posted On

2013-04-17