Mutagenetix > Incidental Mutations

Incidental Mutation 'R8136:Phf11a'

632273

Institutional Source

Beutler Lab

Gene Symbol

Phf11a

Ensembl Gene

ENSMUSG00000044703

Gene Name

PHD finger protein 11A

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R8136 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59276913-59297522 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59277569 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 221 (V221A)

Ref Sequence

ENSEMBL: ENSMUSP00000053146 (fasta)

Gene Model

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

AlphaFold

Q8BVM9

Predicted Effect

probably benign
Transcript: ENSMUST00000062307
AA Change: V221A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000053146
Gene: ENSMUSG00000044703
AA Change: V221A

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

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 96.7%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,248,397	M2462L	probably benign	Het
Aptx	A	G	4: 40,688,107		probably null	Het
Bmpr1b	A	G	3: 141,856,382	I348T	probably damaging	Het
Btnl1	T	A	17: 34,380,040		probably null	Het
Col27a1	T	A	4: 63,283,953	D960E	probably benign	Het
Crygn	G	T	5: 24,751,092	R172S	probably benign	Het
Cyp26a1	T	C	19: 37,701,206	I450T	probably benign	Het
Emc2	A	G	15: 43,511,806	Y233C	probably benign	Het
Esyt2	C	A	12: 116,363,459	T549K	probably benign	Het
Fam71e1	T	C	7: 44,500,280	F142L	probably damaging	Het
Gatm	T	C	2: 122,595,537	D411G	probably damaging	Het
Gpr65	T	C	12: 98,275,156	Y23H	probably damaging	Het
Itpr1	A	G	6: 108,438,360	R1752G	probably benign	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Mcm9	A	G	10: 53,611,343	*543Q	probably null	Het
Mfsd2a	A	T	4: 122,951,867	C164S	probably benign	Het
Mta1	C	A	12: 113,131,678	R484S	probably damaging	Het
Nlrp9a	T	G	7: 26,557,253	F99V	probably benign	Het
Notch2	G	A	3: 98,124,221	C1137Y	probably damaging	Het
Olfr575	A	T	7: 102,955,241	M120K	probably damaging	Het
Pcnx	A	G	12: 81,918,006	T316A	probably benign	Het
Pigb	A	G	9: 73,022,320	L327P	possibly damaging	Het
Rab3c	A	T	13: 110,181,020	Y110*	probably null	Het
Sdk2	G	A	11: 113,851,713	T790M	probably damaging	Het
Slc22a2	C	T	17: 12,606,030	P260S	probably damaging	Het
Sppl2a	T	C	2: 126,913,281		probably null	Het
Tmem189	A	C	2: 167,644,959	Y167D	probably benign	Het
Tnn	T	A	1: 160,107,060	Q1261L	probably damaging	Het
Treml4	C	A	17: 48,264,717	Y49*	probably null	Het
Ttc37	A	G	13: 76,113,103	K131R	probably benign	Het
Ubr3	T	C	2: 70,021,179	I1827T	probably damaging	Het
Vrtn	C	T	12: 84,650,035	R520C	probably damaging	Het
Wipf1	G	A	2: 73,437,535	P173L	possibly damaging	Het
Wls	C	A	3: 159,873,124	Q108K	probably damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp39	A	T	11: 58,891,402	V178D	probably damaging	Het
Zfp777	C	A	6: 48,044,625	R21L	probably benign	Het

Other mutations in Phf11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01607:Phf11a	APN	14	59287501	missense	probably damaging	0.99
IGL01988:Phf11a	APN	14	59277358	missense	probably damaging	0.96
IGL02614:Phf11a	APN	14	59279368	missense	possibly damaging	0.80
R1118:Phf11a	UTSW	14	59284329	missense	probably benign	0.00
R1623:Phf11a	UTSW	14	59287551	missense	possibly damaging	0.91
R1661:Phf11a	UTSW	14	59280788	missense	probably damaging	1.00
R1928:Phf11a	UTSW	14	59281867	splice site	probably benign
R2022:Phf11a	UTSW	14	59294914	missense	possibly damaging	0.77
R4836:Phf11a	UTSW	14	59287579	missense	probably damaging	0.99
R4983:Phf11a	UTSW	14	59284438	missense	probably benign	0.05
R5074:Phf11a	UTSW	14	59284400	missense	possibly damaging	0.94
R5411:Phf11a	UTSW	14	59294938	missense	probably benign
R5510:Phf11a	UTSW	14	59279385	missense	probably damaging	1.00
R5512:Phf11a	UTSW	14	59287550	missense	probably benign	0.12
R6209:Phf11a	UTSW	14	59287579	missense	probably damaging	1.00
R6337:Phf11a	UTSW	14	59284368	missense	probably damaging	0.99
R6505:Phf11a	UTSW	14	59277537	missense	probably damaging	0.98
R7368:Phf11a	UTSW	14	59280725	missense	probably benign	0.01
R8133:Phf11a	UTSW	14	59284324	missense	probably damaging	1.00
Z1177:Phf11a	UTSW	14	59284342	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- CTGCTTGCACTTCAGGAGAC -3'
(R):5'- TCCCTAGAACAAGAGATGTGC -3'

Sequencing Primer
(F):5'- AGACTCCTGGCATCTGACCTG -3'
(R):5'- CTCTTGAAAGAGTTGTCACTGGGAG -3'

Posted On

2020-06-30