Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01073:Phf11c'

52657

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phf11c

Ensembl Gene

ENSMUSG00000091144

Gene Name

PHD finger protein 11C

Synonyms

Gm6907

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01073

Quality Score

Status

Chromosome

Chromosomal Location

59618282-59630961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59626797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 129 (S129T)

Ref Sequence

ENSEMBL: ENSMUSP00000131536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166912]

AlphaFold

B4XVP9

Predicted Effect

probably benign
Transcript: ENSMUST00000166912
AA Change: S129T

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000131536
Gene: ENSMUSG00000091144
AA Change: S129T

Domain	Start	End	E-Value	Type
PHD	112	162	3.25e-4	SMART
low complexity region	178	186	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	A	G	10: 81,475,156 (GRCm39)	D110G	possibly damaging	Het
Ccnd3	A	G	17: 47,905,770 (GRCm39)	T104A	probably benign	Het
Cntnap5b	A	T	1: 100,003,755 (GRCm39)	D245V	probably benign	Het
Cryab	A	G	9: 50,665,855 (GRCm39)	K82R	probably damaging	Het
Dnmt3b	G	A	2: 153,512,762 (GRCm39)		probably benign	Het
Eif2b5	A	T	16: 20,319,046 (GRCm39)	K99*	probably null	Het
Fam222b	A	G	11: 78,045,314 (GRCm39)	I292V	probably damaging	Het
Itpr1	A	C	6: 108,390,781 (GRCm39)	N1560T	probably benign	Het
Lca5	T	A	9: 83,277,528 (GRCm39)	K605N	probably damaging	Het
Letm1	T	C	5: 33,906,144 (GRCm39)	D424G	possibly damaging	Het
Mtif3	C	A	5: 146,895,790 (GRCm39)	R99L	probably damaging	Het
Nrxn3	A	G	12: 89,221,510 (GRCm39)	M430V	probably benign	Het
Or4c121	A	T	2: 89,023,481 (GRCm39)	L299Q	possibly damaging	Het
Pgap2	T	A	7: 101,875,661 (GRCm39)		probably benign	Het
Ptpro	A	G	6: 137,354,086 (GRCm39)	N154S	probably damaging	Het
Rfng	C	T	11: 120,674,747 (GRCm39)	R81H	probably benign	Het
Rnf38	A	G	4: 44,137,645 (GRCm39)	M280T	probably benign	Het
Rrp7a	G	A	15: 83,002,282 (GRCm39)	A185V	probably benign	Het
Slc22a2	C	A	17: 12,803,236 (GRCm39)	F23L	probably benign	Het
Slc35f1	A	G	10: 52,898,056 (GRCm39)	T156A	probably benign	Het
Slfn1	A	T	11: 83,012,163 (GRCm39)	Y93F	probably benign	Het
Snrnp200	A	T	2: 127,056,832 (GRCm39)		probably benign	Het
Sos1	A	G	17: 80,730,176 (GRCm39)	F701S	probably damaging	Het
Tmem203	A	C	2: 25,145,736 (GRCm39)	I19L	probably benign	Het
Usp8	A	T	2: 126,560,034 (GRCm39)	K18N	probably damaging	Het
Vmn2r115	G	A	17: 23,564,971 (GRCm39)	R286K	probably benign	Het
Vmn2r23	A	C	6: 123,689,759 (GRCm39)	T212P	possibly damaging	Het

Other mutations in Phf11c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Phf11c	APN	14	59,630,648 (GRCm39)	missense	probably benign	0.00
IGL01819:Phf11c	APN	14	59,630,586 (GRCm39)	missense	probably benign	0.00
IGL02691:Phf11c	APN	14	59,622,236 (GRCm39)	missense	probably damaging	1.00
R0029:Phf11c	UTSW	14	59,622,364 (GRCm39)	missense	probably benign	0.02
R0965:Phf11c	UTSW	14	59,618,931 (GRCm39)	missense	probably damaging	1.00
R3001:Phf11c	UTSW	14	59,622,289 (GRCm39)	missense	probably damaging	1.00
R3002:Phf11c	UTSW	14	59,622,289 (GRCm39)	missense	probably damaging	1.00
R3081:Phf11c	UTSW	14	59,618,933 (GRCm39)	missense	probably benign
R4230:Phf11c	UTSW	14	59,630,516 (GRCm39)	missense	probably benign	0.00
R4432:Phf11c	UTSW	14	59,628,384 (GRCm39)	missense	possibly damaging	0.67
R5649:Phf11c	UTSW	14	59,622,981 (GRCm39)	critical splice acceptor site	probably null
R8981:Phf11c	UTSW	14	59,628,412 (GRCm39)	missense	possibly damaging	0.90

Posted On

2013-06-21