Mutagenetix > Incidental Mutation

Incidental Mutation 'R9306:Phf11'

705234

Institutional Source

Beutler Lab

Gene Symbol

Phf11

Ensembl Gene

ENSMUSG00000090881

Gene Name

PHD finger protein 11

Synonyms

Phf11-ps, Gm6904

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R9306 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59482149-59497629 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59482294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 153 (D153V)

Ref Sequence

ENSEMBL: ENSMUSP00000126987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168702]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000168702
AA Change: D153V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126987
Gene: ENSMUSG00000090881
AA Change: D153V

Domain	Start	End	E-Value	Type
PHD	92	143	5.12e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam18	G	A	8: 25,136,420 (GRCm39)	S367L	possibly damaging	Het
Alox12b	A	T	11: 69,060,396 (GRCm39)	I651F	possibly damaging	Het
Arfgef2	A	G	2: 166,723,188 (GRCm39)	K1543E	probably benign	Het
Arhgap24	A	G	5: 102,994,008 (GRCm39)	I30V	possibly damaging	Het
Atad2	A	T	15: 57,959,994 (GRCm39)	Y1343*	probably null	Het
Clca3a1	A	G	3: 144,730,339 (GRCm39)	Y169H	probably damaging	Het
Cspg4b	A	G	13: 113,506,010 (GRCm39)	T2380A	unknown	Het
Eno1b	G	A	18: 48,180,922 (GRCm39)	V367I	probably benign	Het
Fbh1	T	C	2: 11,772,387 (GRCm39)	E98G	probably benign	Het
Fbxw14	A	T	9: 109,100,280 (GRCm39)	M458K	probably benign	Het
Galnt13	A	T	2: 54,823,569 (GRCm39)	I382F	probably benign	Het
Hoxa10	T	C	6: 52,209,635 (GRCm39)	T368A	possibly damaging	Het
Ism2	C	T	12: 87,333,826 (GRCm39)	C73Y	probably benign	Het
Kif15	T	C	9: 122,807,056 (GRCm39)	V264A	probably damaging	Het
Lars1	T	C	18: 42,358,884 (GRCm39)		probably null	Het
Lmtk2	T	A	5: 144,119,599 (GRCm39)	H1353Q	probably benign	Het
Lrp1b	A	T	2: 40,518,762 (GRCm39)	C157S	possibly damaging	Het
Map3k7cl	A	G	16: 87,391,149 (GRCm39)	D91G	possibly damaging	Het
Mapk8ip1	A	T	2: 92,219,428 (GRCm39)	D134E	probably benign	Het
Meaf6	A	T	4: 124,996,766 (GRCm39)	T159S	unknown	Het
Moxd1	A	G	10: 24,128,824 (GRCm39)		probably benign	Het
Mup8	T	A	4: 60,219,682 (GRCm39)	E195V	possibly damaging	Het
Nox4	A	T	7: 86,896,781 (GRCm39)	Q48L	probably benign	Het
Or1j19	T	A	2: 36,677,407 (GRCm39)	I290N	probably damaging	Het
Or52d3	T	A	7: 104,229,128 (GRCm39)	W92R	probably damaging	Het
Or6c219	G	A	10: 129,781,289 (GRCm39)	S99F	probably damaging	Het
Otop3	G	T	11: 115,237,248 (GRCm39)	V571L	probably benign	Het
Oxr1	A	G	15: 41,686,861 (GRCm39)	H581R	possibly damaging	Het
Pappa2	A	T	1: 158,764,492 (GRCm39)	F340I	probably damaging	Het
Pcdh10	G	A	3: 45,335,804 (GRCm39)	G706D	probably benign	Het
Pdia5	A	T	16: 35,250,353 (GRCm39)	V202D	probably damaging	Het
Pdpn	G	A	4: 143,000,601 (GRCm39)	T77M	probably damaging	Het
Pira1	T	A	7: 3,740,360 (GRCm39)	Q287L	probably benign	Het
Ptprq	T	C	10: 107,422,599 (GRCm39)	T1598A	probably benign	Het
Slc27a6	C	T	18: 58,742,953 (GRCm39)	T547I	possibly damaging	Het
Smoc1	G	A	12: 81,214,430 (GRCm39)	V282I	possibly damaging	Het
Sppl3	C	A	5: 115,212,922 (GRCm39)	N50K	probably benign	Het
Taar5	T	C	10: 23,846,781 (GRCm39)	S60P	possibly damaging	Het
Tgtp2	G	T	11: 48,949,865 (GRCm39)	Q236K	probably benign	Het
Timd5	A	C	11: 46,419,519 (GRCm39)	M112L	probably benign	Het
Vmn1r8	T	A	6: 57,013,713 (GRCm39)	W255R	probably benign	Het
Vmn2r11	C	T	5: 109,196,831 (GRCm39)	C547Y	probably damaging	Het
Vmn2r96	A	G	17: 18,803,226 (GRCm39)	T187A	probably benign	Het
Vwa1	G	A	4: 155,855,328 (GRCm39)	P262S	probably benign	Het

Other mutations in Phf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01943:Phf11	APN	14	59,488,611 (GRCm39)	missense	probably damaging	1.00
IGL01973:Phf11	APN	14	59,488,578 (GRCm39)	missense	probably benign
R1297:Phf11	UTSW	14	59,495,996 (GRCm39)	missense	probably benign
R1300:Phf11	UTSW	14	59,488,563 (GRCm39)	missense	probably damaging	1.00
R1459:Phf11	UTSW	14	59,482,227 (GRCm39)	missense	probably damaging	1.00
R1909:Phf11	UTSW	14	59,496,062 (GRCm39)	missense	probably benign	0.30
R4567:Phf11	UTSW	14	59,488,627 (GRCm39)	missense	probably damaging	1.00
R5024:Phf11	UTSW	14	59,495,932 (GRCm39)	splice site	probably null
R5942:Phf11	UTSW	14	59,497,593 (GRCm39)	missense	probably benign	0.03
R7736:Phf11	UTSW	14	59,488,594 (GRCm39)	missense	probably benign	0.04
R8290:Phf11	UTSW	14	59,485,418 (GRCm39)	missense	probably damaging	1.00
R8682:Phf11	UTSW	14	59,496,033 (GRCm39)	missense	probably benign	0.14
R8708:Phf11	UTSW	14	59,482,262 (GRCm39)	missense	probably damaging	1.00
R9667:Phf11	UTSW	14	59,482,240 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TCTTAAAGAATGGGTTACAGAAGGC -3'
(R):5'- GGCTGTCATCTCAAGCATTTC -3'

Sequencing Primer
(F):5'- CAGAAGGCCTGGGAAACATG -3'
(R):5'- TTACAAAACCACATCACTTCATACAG -3'

Posted On

2022-03-25