Mutagenetix > Incidental Mutation

Incidental Mutation 'R8136:Phf11a'

632273

Institutional Source

Beutler Lab

Gene Symbol

Phf11a

Ensembl Gene

ENSMUSG00000044703

Gene Name

PHD finger protein 11A

Synonyms

4933417L10Rik, Phf11

MMRRC Submission

067564-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R8136 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59514362-59534971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59515018 bp (GRCm39)

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: 71,287,556 (GRCm39)	M2462L	probably benign	Het
Aptx	A	G	4: 40,688,107 (GRCm39)		probably null	Het
Bmpr1b	A	G	3: 141,562,143 (GRCm39)	I348T	probably damaging	Het
Btnl1	T	A	17: 34,599,014 (GRCm39)		probably null	Het
Col27a1	T	A	4: 63,202,190 (GRCm39)	D960E	probably benign	Het
Crygn	G	T	5: 24,956,090 (GRCm39)	R172S	probably benign	Het
Cyp26a1	T	C	19: 37,689,654 (GRCm39)	I450T	probably benign	Het
Emc2	A	G	15: 43,375,202 (GRCm39)	Y233C	probably benign	Het
Esyt2	C	A	12: 116,327,079 (GRCm39)	T549K	probably benign	Het
Garin5a	T	C	7: 44,149,704 (GRCm39)	F142L	probably damaging	Het
Gatm	T	C	2: 122,426,018 (GRCm39)	D411G	probably damaging	Het
Gpr65	T	C	12: 98,241,415 (GRCm39)	Y23H	probably damaging	Het
Itpr1	A	G	6: 108,415,321 (GRCm39)	R1752G	probably benign	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,518,660 (GRCm39)		probably benign	Het
Map3k19	A	C	1: 127,751,492 (GRCm39)	S620A	probably damaging	Het
Mcm9	A	G	10: 53,487,439 (GRCm39)	*543Q	probably null	Het
Mfsd2a	A	T	4: 122,845,660 (GRCm39)	C164S	probably benign	Het
Mta1	C	A	12: 113,095,298 (GRCm39)	R484S	probably damaging	Het
Nlrp9a	T	G	7: 26,256,678 (GRCm39)	F99V	probably benign	Het
Notch2	G	A	3: 98,031,537 (GRCm39)	C1137Y	probably damaging	Het
Or51a6	A	T	7: 102,604,448 (GRCm39)	M120K	probably damaging	Het
Pcnx1	A	G	12: 81,964,780 (GRCm39)	T316A	probably benign	Het
Peds1	A	C	2: 167,486,879 (GRCm39)	Y167D	probably benign	Het
Pigb	A	G	9: 72,929,602 (GRCm39)	L327P	possibly damaging	Het
Rab3c	A	T	13: 110,317,554 (GRCm39)	Y110*	probably null	Het
Sdk2	G	A	11: 113,742,539 (GRCm39)	T790M	probably damaging	Het
Skic3	A	G	13: 76,261,222 (GRCm39)	K131R	probably benign	Het
Slc22a2	C	T	17: 12,824,917 (GRCm39)	P260S	probably damaging	Het
Sppl2a	T	C	2: 126,755,201 (GRCm39)		probably null	Het
Tnn	T	A	1: 159,934,630 (GRCm39)	Q1261L	probably damaging	Het
Treml4	C	A	17: 48,571,745 (GRCm39)	Y49*	probably null	Het
Ubr3	T	C	2: 69,851,523 (GRCm39)	I1827T	probably damaging	Het
Vrtn	C	T	12: 84,696,809 (GRCm39)	R520C	probably damaging	Het
Wipf1	G	A	2: 73,267,879 (GRCm39)	P173L	possibly damaging	Het
Wls	C	A	3: 159,578,761 (GRCm39)	Q108K	probably damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp39	A	T	11: 58,782,228 (GRCm39)	V178D	probably damaging	Het
Zfp777	C	A	6: 48,021,559 (GRCm39)	R21L	probably benign	Het

Other mutations in Phf11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01607:Phf11a	APN	14	59,524,950 (GRCm39)	missense	probably damaging	0.99
IGL01988:Phf11a	APN	14	59,514,807 (GRCm39)	missense	probably damaging	0.96
IGL02614:Phf11a	APN	14	59,516,817 (GRCm39)	missense	possibly damaging	0.80
R1118:Phf11a	UTSW	14	59,521,778 (GRCm39)	missense	probably benign	0.00
R1623:Phf11a	UTSW	14	59,525,000 (GRCm39)	missense	possibly damaging	0.91
R1661:Phf11a	UTSW	14	59,518,237 (GRCm39)	missense	probably damaging	1.00
R1928:Phf11a	UTSW	14	59,519,316 (GRCm39)	splice site	probably benign
R2022:Phf11a	UTSW	14	59,532,363 (GRCm39)	missense	possibly damaging	0.77
R4836:Phf11a	UTSW	14	59,525,028 (GRCm39)	missense	probably damaging	0.99
R4983:Phf11a	UTSW	14	59,521,887 (GRCm39)	missense	probably benign	0.05
R5074:Phf11a	UTSW	14	59,521,849 (GRCm39)	missense	possibly damaging	0.94
R5411:Phf11a	UTSW	14	59,532,387 (GRCm39)	missense	probably benign
R5510:Phf11a	UTSW	14	59,516,834 (GRCm39)	missense	probably damaging	1.00
R5512:Phf11a	UTSW	14	59,524,999 (GRCm39)	missense	probably benign	0.12
R6209:Phf11a	UTSW	14	59,525,028 (GRCm39)	missense	probably damaging	1.00
R6337:Phf11a	UTSW	14	59,521,817 (GRCm39)	missense	probably damaging	0.99
R6505:Phf11a	UTSW	14	59,514,986 (GRCm39)	missense	probably damaging	0.98
R7368:Phf11a	UTSW	14	59,518,174 (GRCm39)	missense	probably benign	0.01
R8133:Phf11a	UTSW	14	59,521,773 (GRCm39)	missense	probably damaging	1.00
R9797:Phf11a	UTSW	14	59,514,862 (GRCm39)	missense	possibly damaging	0.67
Z1177:Phf11a	UTSW	14	59,521,791 (GRCm39)	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