Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01819:Phf11c'

154463

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phf11c

Ensembl Gene

ENSMUSG00000091144

Gene Name

PHD finger protein 11C

Synonyms

Gm6907

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01819

Quality Score

Status

Chromosome

Chromosomal Location

59380833-59395381 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59393137 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 40 (T40A)

Ref Sequence

ENSEMBL: ENSMUSP00000131536 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166912
AA Change: T40A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000131536
Gene: ENSMUSG00000091144
AA Change: T40A

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,584,561	S105P	probably benign	Het
Adora2b	A	G	11: 62,265,184	N153S	possibly damaging	Het
Afm	C	T	5: 90,524,906	T200I	probably benign	Het
Cyp2c67	T	C	19: 39,615,721	D397G	probably damaging	Het
Dnah9	A	G	11: 66,108,126	V1032A	probably benign	Het
Elovl7	T	G	13: 108,274,320	V143G	probably damaging	Het
Fhl4	T	C	10: 85,098,870	K16E	probably damaging	Het
Golga1	C	T	2: 39,034,149	C383Y	probably benign	Het
Gucy1a2	C	T	9: 3,865,409	R628*	probably null	Het
Hectd4	A	G	5: 121,328,418	D2432G	possibly damaging	Het
Iqcf5	T	A	9: 106,515,990	*149R	probably null	Het
Kcnab1	T	A	3: 65,319,454	Y185N	probably damaging	Het
Lars	G	T	18: 42,202,550	T1167K	probably benign	Het
Mib2	A	T	4: 155,655,258		probably null	Het
Mrps2	T	C	2: 28,468,336	V46A	probably benign	Het
Myo18b	T	C	5: 112,878,050	T45A	unknown	Het
Myo1e	C	T	9: 70,343,040		probably benign	Het
Olfr1129	A	G	2: 87,575,479	I132V	probably damaging	Het
Olfr1285	T	A	2: 111,408,733	V106E	probably damaging	Het
Osbp2	A	T	11: 3,717,127	I8N	probably damaging	Het
Pcdhb22	A	T	18: 37,519,921	N481Y	probably damaging	Het
Pde3a	T	C	6: 141,487,537	W765R	probably damaging	Het
Pih1d2	T	A	9: 50,621,877	S268R	probably benign	Het
Pkd1l2	T	C	8: 116,998,174	N2333D	probably damaging	Het
Prex1	A	G	2: 166,621,245	I62T	probably damaging	Het
Ptcd2	T	C	13: 99,326,711	N245S	possibly damaging	Het
Ripor3	C	A	2: 167,980,843	V933F	probably damaging	Het
Sphk2	A	G	7: 45,711,056		probably null	Het
Tfcp2	T	G	15: 100,504,439	E492D	probably benign	Het
Ttn	C	T	2: 76,798,762	V14411I	possibly damaging	Het
Utp20	T	C	10: 88,792,687	Q915R	probably damaging	Het
Vmn2r45	C	A	7: 8,485,557	S158I	probably benign	Het

Other mutations in Phf11c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01073:Phf11c	APN	14	59389348	missense	probably benign	0.07
IGL01080:Phf11c	APN	14	59393199	missense	probably benign	0.00
IGL02691:Phf11c	APN	14	59384787	missense	probably damaging	1.00
R0029:Phf11c	UTSW	14	59384915	missense	probably benign	0.02
R0965:Phf11c	UTSW	14	59381482	missense	probably damaging	1.00
R3001:Phf11c	UTSW	14	59384840	missense	probably damaging	1.00
R3002:Phf11c	UTSW	14	59384840	missense	probably damaging	1.00
R3081:Phf11c	UTSW	14	59381484	missense	probably benign
R4230:Phf11c	UTSW	14	59393067	missense	probably benign	0.00
R4432:Phf11c	UTSW	14	59390935	missense	possibly damaging	0.67
R5649:Phf11c	UTSW	14	59385532	critical splice acceptor site	probably null

Posted On

2014-02-04