Mutagenetix > Incidental Mutations

Incidental Mutation 'R5649:Phf11c'

441335

Institutional Source

Beutler Lab

Gene Symbol

Phf11c

Ensembl Gene

ENSMUSG00000091144

Gene Name

PHD finger protein 11C

Synonyms

Gm6907

MMRRC Submission

043170-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59380833-59395381 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 59385532 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131536 (fasta)

Gene Model

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

AlphaFold

B4XVP9

Predicted Effect

probably null
Transcript: ENSMUST00000166912

SMART Domains

Protein: ENSMUSP00000131536
Gene: ENSMUSG00000091144

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,972	E33G	probably benign	Het
Abca12	T	C	1: 71,291,342	T1385A	probably damaging	Het
Apc2	T	A	10: 80,314,138	D1646E	probably damaging	Het
Aspm	G	A	1: 139,479,669	R2098H	probably benign	Het
Atl3	C	A	19: 7,532,227	T435N	possibly damaging	Het
Cdh22	G	T	2: 165,116,280	T589K	probably damaging	Het
Cnot3	T	C	7: 3,658,083	L561S	probably benign	Het
Col5a1	A	G	2: 27,951,456	D363G	unknown	Het
Cyp24a1	T	C	2: 170,496,309	D105G	possibly damaging	Het
Dennd4a	C	A	9: 64,851,209		probably null	Het
Dnah8	A	G	17: 30,800,587	K3878R	probably benign	Het
Dock4	T	C	12: 40,844,540	S1900P	probably benign	Het
Fancg	A	G	4: 43,008,736	L167P	probably damaging	Het
Ighd2-8	A	G	12: 113,450,867	S1P	possibly damaging	Het
Kif28	A	G	1: 179,697,771		probably null	Het
Mrpl55	T	A	11: 59,204,571	C20*	probably null	Het
Myo5a	A	G	9: 75,171,719	K920E	possibly damaging	Het
Naa35	G	A	13: 59,622,866		probably benign	Het
Olfm3	A	G	3: 115,096,924	R76G	probably damaging	Het
Olfr304	T	C	7: 86,386,313	M116V	probably damaging	Het
Olfr705	T	C	7: 106,714,166	R172G	possibly damaging	Het
Pcdha12	A	T	18: 37,022,415	D729V	probably benign	Het
Phf20	T	A	2: 156,251,768		probably null	Het
Plbd1	T	A	6: 136,616,989	Y376F	probably benign	Het
Poglut1	A	G	16: 38,531,811	V257A	probably damaging	Het
Reln	A	G	5: 21,901,625	I3249T	probably benign	Het
Rgsl1	G	A	1: 153,825,893	P272S	possibly damaging	Het
Slc15a2	A	T	16: 36,772,110	Y197*	probably null	Het
Slc45a2	C	T	15: 11,012,607	T232I	probably benign	Het
Ssc5d	T	A	7: 4,926,518		probably null	Het
Thbs2	T	C	17: 14,689,953	Y128C	probably damaging	Het
Them4	A	T	3: 94,331,544	L219F	possibly damaging	Het
Tmem30b	G	T	12: 73,546,166	N58K	probably benign	Het
Ttc29	G	A	8: 78,246,313	E131K	possibly damaging	Het
Vmn1r29	C	G	6: 58,307,691	S132C	probably benign	Het
Vmn1r53	G	A	6: 90,223,760	A194V	probably benign	Het
Wdr86	A	T	5: 24,718,087	H202Q	probably benign	Het
Xirp2	A	G	2: 67,516,895	D3160G	probably benign	Het
Xkr5	T	C	8: 18,933,966	D520G	probably benign	Het
Zfp607b	T	G	7: 27,703,981	C621G	probably damaging	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
IGL01819:Phf11c	APN	14	59393137	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
R8981:Phf11c	UTSW	14	59390963	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GAAATGGTCCACTCCAGCTC -3'
(R):5'- ATGCCATTTGGATCCAGGAG -3'

Sequencing Primer
(F):5'- GGTCCACTCCAGCTCAAATAACTATG -3'
(R):5'- GCCATTTGGATCCAGGAGTTCATC -3'

Posted On

2016-11-08