Mutagenetix > Incidental Mutation

Incidental Mutation 'R4432:Phf11c'

328669

Institutional Source

Beutler Lab

Gene Symbol

Phf11c

Ensembl Gene

ENSMUSG00000091144

Gene Name

PHD finger protein 11C

Synonyms

Gm6907

MMRRC Submission

041701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59618282-59630961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59628384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 88 (N88K)

Ref Sequence

ENSEMBL: ENSMUSP00000131536 (fasta)

Gene Model

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

AlphaFold

B4XVP9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166912
AA Change: N88K

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131536
Gene: ENSMUSG00000091144
AA Change: N88K

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

Meta Mutation Damage Score

0.1205

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,132,414 (GRCm39)	M294V	probably benign	Het
Abcc5	A	T	16: 20,186,937 (GRCm39)		probably null	Het
Acsm4	A	C	7: 119,310,610 (GRCm39)	E499A	probably damaging	Het
Adamtsl4	T	C	3: 95,589,069 (GRCm39)		probably null	Het
Ank2	A	T	3: 126,741,455 (GRCm39)		probably benign	Het
Anks6	G	A	4: 47,044,905 (GRCm39)	Q334*	probably null	Het
Cadps2	T	A	6: 23,626,737 (GRCm39)	I155L	probably damaging	Het
Casp4	G	A	9: 5,323,653 (GRCm39)	R74H	probably damaging	Het
Cdk14	A	G	5: 5,086,427 (GRCm39)	W298R	probably damaging	Het
Chia1	A	G	3: 106,022,641 (GRCm39)	N12D	probably benign	Het
Cibar2	C	A	8: 120,901,594 (GRCm39)	R37L	probably damaging	Het
Cyp3a59	A	G	5: 146,041,596 (GRCm39)	D380G	probably benign	Het
Dnm2	T	C	9: 21,402,600 (GRCm39)		probably benign	Het
Dnm3	T	C	1: 161,819,566 (GRCm39)		probably benign	Het
Dpp4	A	G	2: 62,175,456 (GRCm39)	Y660H	probably damaging	Het
H6pd	T	G	4: 150,080,215 (GRCm39)	Y202S	probably damaging	Het
Hnrnpa0	T	C	13: 58,275,751 (GRCm39)	K126R	probably benign	Het
Insc	C	T	7: 114,368,290 (GRCm39)		probably benign	Het
Lrrc45	G	A	11: 120,606,047 (GRCm39)		probably null	Het
Mapkap1	T	C	2: 34,509,875 (GRCm39)	L263P	probably damaging	Het
Nmur1	A	G	1: 86,315,287 (GRCm39)	S160P	probably damaging	Het
Or4a81	A	T	2: 89,619,078 (GRCm39)	M206K	possibly damaging	Het
Or4g7	T	A	2: 111,309,757 (GRCm39)	C209*	probably null	Het
Pcdhb15	A	G	18: 37,608,565 (GRCm39)	N599S	probably damaging	Het
Pcid2	T	C	8: 13,135,421 (GRCm39)	D196G	probably damaging	Het
Pcolce2	T	C	9: 95,563,610 (GRCm39)	F199L	probably damaging	Het
Prl8a8	T	A	13: 27,694,463 (GRCm39)	Y109F	probably benign	Het
Rasa2	A	G	9: 96,424,460 (GRCm39)		probably benign	Het
Samhd1	T	C	2: 156,946,813 (GRCm39)	D558G	probably damaging	Het
Slc1a1	T	C	19: 28,880,109 (GRCm39)	F263S	probably benign	Het
Slc27a3	G	A	3: 90,294,647 (GRCm39)	T408M	probably damaging	Het
Slc4a7	T	A	14: 14,757,323 (GRCm38)	N520K	probably damaging	Het
Szt2	A	G	4: 118,241,428 (GRCm39)	S1679P	probably damaging	Het
Trmt9b	A	T	8: 36,965,632 (GRCm39)	I51F	probably damaging	Het
Vmn1r218	T	C	13: 23,321,412 (GRCm39)	F173S	possibly damaging	Het
Vmn2r32	T	A	7: 7,482,918 (GRCm39)	N19Y	probably damaging	Het

Other mutations in Phf11c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01073:Phf11c	APN	14	59,626,797 (GRCm39)	missense	probably benign	0.07
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGCTGATGTGTGCGACAG -3'
(R):5'- TGAGGCATTGTCCACTCTGC -3'

Sequencing Primer
(F):5'- CATGTGTCTGTGAAAGCCAGCAC -3'
(R):5'- TGCACTCCTCTGCAGCC -3'

Posted On

2015-07-21