Mutagenetix > Incidental Mutation

Incidental Mutation 'R1297:Phf11'

158191

Institutional Source

Beutler Lab

Gene Symbol

Phf11

Ensembl Gene

ENSMUSG00000090881

Gene Name

PHD finger protein 11

Synonyms

Phf11-ps, Gm6904

MMRRC Submission

039363-MU

Accession Numbers

Essential gene?

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

Stock #

R1297 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59482149-59497629 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59495996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 39 (H39Q)

Ref Sequence

ENSEMBL: ENSMUSP00000126987 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000168702
AA Change: H39Q

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

SMART Domains

Protein: ENSMUSP00000126987
Gene: ENSMUSG00000090881
AA Change: H39Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224042

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,820,834 (GRCm39)	N542D	possibly damaging	Het
Ap2b1	T	A	11: 83,223,935 (GRCm39)	W217R	probably damaging	Het
Cep290	T	A	10: 100,374,962 (GRCm39)		probably benign	Het
Col27a1	G	A	4: 63,183,868 (GRCm39)		probably benign	Het
Cyp2d12	A	T	15: 82,441,887 (GRCm39)	H109L	probably benign	Het
Dnah17	T	C	11: 118,012,192 (GRCm39)		probably benign	Het
Golga3	G	A	5: 110,352,709 (GRCm39)	A867T	probably benign	Het
Gstt4	T	A	10: 75,653,133 (GRCm39)	N143I	possibly damaging	Het
Hdac2	G	A	10: 36,862,370 (GRCm39)	R78Q	possibly damaging	Het
Itsn2	T	C	12: 4,750,378 (GRCm39)	I1241T	probably damaging	Het
Kalrn	T	C	16: 33,836,868 (GRCm39)	K2249R	probably damaging	Het
Klrg1	T	A	6: 122,250,538 (GRCm39)	I138F	probably benign	Het
Mast1	A	G	8: 85,639,345 (GRCm39)	V1328A	probably benign	Het
Mettl25	T	C	10: 105,659,126 (GRCm39)	S386G	probably benign	Het
Nme2	A	T	11: 93,842,782 (GRCm39)	N210K	possibly damaging	Het
Pgap1	T	C	1: 54,567,682 (GRCm39)	S388G	possibly damaging	Het
Pgk2	C	A	17: 40,519,255 (GRCm39)	V58L	probably benign	Het
Pou6f1	T	A	15: 100,476,186 (GRCm39)	T292S	probably damaging	Het
Rbm5	G	A	9: 107,621,441 (GRCm39)	R15C	probably damaging	Het
Rnf215	T	C	11: 4,089,806 (GRCm39)	V273A	possibly damaging	Het
Rras	A	G	7: 44,670,003 (GRCm39)	D145G	probably damaging	Het
Safb2	T	C	17: 56,891,265 (GRCm39)		probably benign	Het
Setdb1	A	T	3: 95,257,187 (GRCm39)		probably benign	Het
Sp5	A	G	2: 70,306,873 (GRCm39)	D186G	probably benign	Het
Thada	A	G	17: 84,559,863 (GRCm39)		probably benign	Het
Tle1	A	G	4: 72,043,075 (GRCm39)	V598A	probably damaging	Het
Tnrc6c	A	G	11: 117,624,529 (GRCm39)	N947S	possibly damaging	Het
Tnxb	T	C	17: 34,929,140 (GRCm39)	S2728P	probably damaging	Het
Vmn1r13	A	G	6: 57,187,392 (GRCm39)	R184G	probably damaging	Het
Wdr24	C	T	17: 26,046,322 (GRCm39)	T522I	possibly damaging	Het
Zfyve16	A	G	13: 92,658,840 (GRCm39)	V357A	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
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
R9306:Phf11	UTSW	14	59,482,294 (GRCm39)	missense	probably damaging	0.98
R9667:Phf11	UTSW	14	59,482,240 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- CTCAGGAGACTGGGGCAAATAAACC -3'
(R):5'- ACAAGAGGTGCGGCTTTTCACTG -3'

Sequencing Primer
(F):5'- TGAGCATTGCCAACTCAAAGG -3'
(R):5'- GTCCAGGAGTTAAGACTGTCC -3'

Posted On

2014-02-18