Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02614:Phf11a'

300578

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phf11a

Ensembl Gene

ENSMUSG00000044703

Gene Name

PHD finger protein 11A

Synonyms

4933417L10Rik, Phf11

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL02614

Quality Score

Status

Chromosome

Chromosomal Location

59514362-59534971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59516817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 214 (T214S)

Ref Sequence

ENSEMBL: ENSMUSP00000053146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062307]

AlphaFold

Q8BVM9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062307
AA Change: T214S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053146
Gene: ENSMUSG00000044703
AA Change: T214S

Domain	Start	End	E-Value	Type
Pfam:zf-HC5HC2H_2	26	142	7.3e-9	PFAM
Pfam:zf-HC5HC2H	51	143	5.8e-21	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,044,215 (GRCm39)		probably benign	Het
Acadsb	A	G	7: 131,026,357 (GRCm39)	T67A	probably benign	Het
Aff2	A	G	X: 68,907,693 (GRCm39)	D1225G	possibly damaging	Het
Atp2a2	T	C	5: 122,627,366 (GRCm39)	D133G	probably benign	Het
Cacul1	A	T	19: 60,551,661 (GRCm39)	M187K	possibly damaging	Het
Celf4	A	G	18: 25,637,207 (GRCm39)	Y263H	probably damaging	Het
Cmbl	G	T	15: 31,589,830 (GRCm39)	V187F	probably damaging	Het
Epha1	T	C	6: 42,337,491 (GRCm39)	N896S	probably benign	Het
Fbxo27	G	A	7: 28,396,201 (GRCm39)		probably null	Het
Galnt16	T	C	12: 80,623,337 (GRCm39)	S166P	probably damaging	Het
Gm1110	A	G	9: 26,832,010 (GRCm39)	V47A	probably benign	Het
Gmnn	A	G	13: 24,944,137 (GRCm39)		probably benign	Het
Gpbp1	T	C	13: 111,573,007 (GRCm39)	I382V	probably benign	Het
Gpr87	C	A	3: 59,086,738 (GRCm39)	V256L	probably damaging	Het
Il4ra	C	A	7: 125,174,962 (GRCm39)	S390*	probably null	Het
Itprid1	A	T	6: 55,945,262 (GRCm39)	D661V	probably damaging	Het
Lrrc47	T	C	4: 154,103,392 (GRCm39)		probably null	Het
Lrriq4	A	T	3: 30,709,788 (GRCm39)	L362F	probably damaging	Het
Lrrtm4	A	T	6: 79,998,827 (GRCm39)	N79Y	probably benign	Het
Nr1i2	T	A	16: 38,074,118 (GRCm39)	H165L	probably damaging	Het
Or10g1b	T	C	14: 52,627,627 (GRCm39)	E201G	probably damaging	Het
Prr14l	A	T	5: 32,987,887 (GRCm39)	I536K	possibly damaging	Het
Rpn1	T	A	6: 88,079,087 (GRCm39)	I510N	probably benign	Het
Sall4	A	T	2: 168,597,805 (GRCm39)	L20Q	probably null	Het
Sema3f	T	C	9: 107,559,710 (GRCm39)	E759G	probably benign	Het
Slc5a1	T	C	5: 33,311,945 (GRCm39)	S446P	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tcn2	C	A	11: 3,876,158 (GRCm39)	S90I	possibly damaging	Het
Ttn	T	C	2: 76,542,331 (GRCm39)	T31806A	possibly damaging	Het
Ubr1	T	C	2: 120,701,460 (GRCm39)		probably benign	Het
Vac14	T	G	8: 111,361,750 (GRCm39)	L214R	probably damaging	Het
Vmn2r58	T	C	7: 41,486,553 (GRCm39)	K781E	probably damaging	Het
Vmn2r92	T	C	17: 18,387,503 (GRCm39)		probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp609	G	A	9: 65,610,072 (GRCm39)	P964S	probably damaging	Het

Other mutations in Phf11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01607:Phf11a	APN	14	59,524,950 (GRCm39)	missense	probably damaging	0.99
IGL01988:Phf11a	APN	14	59,514,807 (GRCm39)	missense	probably damaging	0.96
R1118:Phf11a	UTSW	14	59,521,778 (GRCm39)	missense	probably benign	0.00
R1623:Phf11a	UTSW	14	59,525,000 (GRCm39)	missense	possibly damaging	0.91
R1661:Phf11a	UTSW	14	59,518,237 (GRCm39)	missense	probably damaging	1.00
R1928:Phf11a	UTSW	14	59,519,316 (GRCm39)	splice site	probably benign
R2022:Phf11a	UTSW	14	59,532,363 (GRCm39)	missense	possibly damaging	0.77
R4836:Phf11a	UTSW	14	59,525,028 (GRCm39)	missense	probably damaging	0.99
R4983:Phf11a	UTSW	14	59,521,887 (GRCm39)	missense	probably benign	0.05
R5074:Phf11a	UTSW	14	59,521,849 (GRCm39)	missense	possibly damaging	0.94
R5411:Phf11a	UTSW	14	59,532,387 (GRCm39)	missense	probably benign
R5510:Phf11a	UTSW	14	59,516,834 (GRCm39)	missense	probably damaging	1.00
R5512:Phf11a	UTSW	14	59,524,999 (GRCm39)	missense	probably benign	0.12
R6209:Phf11a	UTSW	14	59,525,028 (GRCm39)	missense	probably damaging	1.00
R6337:Phf11a	UTSW	14	59,521,817 (GRCm39)	missense	probably damaging	0.99
R6505:Phf11a	UTSW	14	59,514,986 (GRCm39)	missense	probably damaging	0.98
R7368:Phf11a	UTSW	14	59,518,174 (GRCm39)	missense	probably benign	0.01
R8133:Phf11a	UTSW	14	59,521,773 (GRCm39)	missense	probably damaging	1.00
R8136:Phf11a	UTSW	14	59,515,018 (GRCm39)	missense	probably benign
R9797:Phf11a	UTSW	14	59,514,862 (GRCm39)	missense	possibly damaging	0.67
Z1177:Phf11a	UTSW	14	59,521,791 (GRCm39)	missense	probably benign	0.30

Posted On

2015-04-16