Mutagenetix > Incidental Mutation

Incidental Mutation 'R7887:Phf11d'

609137

Institutional Source

Beutler Lab

Gene Symbol

Phf11d

Ensembl Gene

ENSMUSG00000068245

Gene Name

PHD finger protein 11D

Synonyms

D14Ertd668e

MMRRC Submission

045939-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R7887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59584856-59602919 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59597029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 57 (Y57H)

Ref Sequence

ENSEMBL: ENSMUSP00000092779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095157] [ENSMUST00000160425] [ENSMUST00000161031]

AlphaFold

A6H5X4

Predicted Effect

probably damaging
Transcript: ENSMUST00000095157
AA Change: Y57H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092779
Gene: ENSMUSG00000068245
AA Change: Y57H

Domain	Start	End	E-Value	Type
PHD	92	143	3.03e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000160425
AA Change: Y57H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124578
Gene: ENSMUSG00000068245
AA Change: Y57H

Domain	Start	End	E-Value	Type
PHD	92	143	3.03e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000161031
AA Change: Y57H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125181
Gene: ENSMUSG00000068245
AA Change: Y57H

Domain	Start	End	E-Value	Type
PHD	92	143	3.03e-4	SMART

Meta Mutation Damage Score

0.8528

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (48/49)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU mutated allele exhibit a change in the expression levels of immune response gene after LPS exposure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh8	T	A	9: 3,385,343 (GRCm39)	I580N	probably damaging	Het
Ankrd35	C	T	3: 96,592,216 (GRCm39)	T834M	probably damaging	Het
Astn2	C	T	4: 65,563,103 (GRCm39)	V893I	possibly damaging	Het
B4galt1	A	G	4: 40,823,501 (GRCm39)	Y197H	probably benign	Het
Brdt	T	C	5: 107,507,799 (GRCm39)	S676P	possibly damaging	Het
Chrdl2	T	C	7: 99,678,457 (GRCm39)	V343A	possibly damaging	Het
Clcn3	A	T	8: 61,394,433 (GRCm39)	M59K	probably benign	Het
Cpne4	A	T	9: 104,909,990 (GRCm39)	N529I	probably damaging	Het
Crcp	G	T	5: 130,066,711 (GRCm39)	K32N	possibly damaging	Het
Ddx54	C	T	5: 120,765,268 (GRCm39)	R846C	probably damaging	Het
Dennd6a	T	C	14: 26,320,812 (GRCm39)	S118P	possibly damaging	Het
Egr3	A	G	14: 70,316,651 (GRCm39)	Y116C	probably damaging	Het
Fbxw25	A	G	9: 109,478,662 (GRCm39)		probably null	Het
Focad	T	G	4: 88,100,853 (GRCm39)	I313M	probably damaging	Het
Gm10272	C	T	10: 77,542,779 (GRCm39)	P107L	probably benign	Het
Gpr26	A	C	7: 131,568,702 (GRCm39)	I16L	probably benign	Het
Gpr39	C	A	1: 125,605,279 (GRCm39)	T69K	probably damaging	Het
Hacl1	C	T	14: 31,356,184 (GRCm39)	G97S	probably damaging	Het
Idh3b	A	C	2: 130,123,678 (GRCm39)	D136E	probably damaging	Het
Irf6	G	A	1: 192,850,040 (GRCm39)	V321M	probably damaging	Het
Klrg2	T	A	6: 38,613,506 (GRCm39)	T166S	probably damaging	Het
Lnx2	T	C	5: 146,955,853 (GRCm39)	I648V	probably damaging	Het
Mecr	A	G	4: 131,588,177 (GRCm39)		probably null	Het
Mnat1	T	A	12: 73,234,965 (GRCm39)	S205T	probably benign	Het
Mpnd	G	A	17: 56,318,097 (GRCm39)	G204D	probably benign	Het
Myh7	C	T	14: 55,221,119 (GRCm39)	E935K	possibly damaging	Het
Nid1	G	T	13: 13,674,318 (GRCm39)	R899L	possibly damaging	Het
Nisch	C	T	14: 30,898,652 (GRCm39)	W664*	probably null	Het
Nudt6	C	T	3: 37,466,529 (GRCm39)	V157I	possibly damaging	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or51h7	A	C	7: 102,591,358 (GRCm39)	L142R	possibly damaging	Het
Or5l13	T	C	2: 87,780,224 (GRCm39)	M118V	probably damaging	Het
Or8g31-ps1	A	T	9: 39,276,175 (GRCm39)	M107L	unknown	Het
Parg	T	A	14: 31,939,619 (GRCm39)	D548E	possibly damaging	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,764,204 (GRCm39)		probably null	Het
Prkaca	T	C	8: 84,713,524 (GRCm39)	V99A	probably benign	Het
Rnf144b	T	A	13: 47,393,287 (GRCm39)	C209S	probably damaging	Het
Scly	G	A	1: 91,228,363 (GRCm39)		probably null	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sphkap	T	C	1: 83,255,133 (GRCm39)	Y872C	probably benign	Het
Ssh1	C	T	5: 114,099,410 (GRCm39)		probably null	Het
Strap	T	G	6: 137,716,807 (GRCm39)	L129V	possibly damaging	Het
Sympk	T	C	7: 18,768,364 (GRCm39)	I111T	possibly damaging	Het
Tprn	C	A	2: 25,154,024 (GRCm39)	A442E	probably damaging	Het
Tsen34	T	C	7: 3,697,707 (GRCm39)	L36P	probably damaging	Het
Ubr4	T	C	4: 139,135,121 (GRCm39)	F818L	probably damaging	Het
Uggt1	T	C	1: 36,247,115 (GRCm39)	Y294C	probably damaging	Het
Usp20	A	G	2: 30,910,906 (GRCm39)	K862E	probably benign	Het
Vmn1r201	A	T	13: 22,658,956 (GRCm39)	I57F	probably damaging	Het
Wdr64	C	T	1: 175,613,111 (GRCm39)	A662V	not run	Het

Other mutations in Phf11d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02808:Phf11d	APN	14	59,586,739 (GRCm39)	missense	probably damaging	1.00
IGL03213:Phf11d	APN	14	59,586,797 (GRCm39)	missense	probably benign	0.40
IGL03386:Phf11d	APN	14	59,599,309 (GRCm39)	splice site	probably benign
R0194:Phf11d	UTSW	14	59,590,180 (GRCm39)	missense	probably damaging	1.00
R0373:Phf11d	UTSW	14	59,590,793 (GRCm39)	missense	possibly damaging	0.67
R0845:Phf11d	UTSW	14	59,590,793 (GRCm39)	missense	possibly damaging	0.67
R1822:Phf11d	UTSW	14	59,593,778 (GRCm39)	missense	probably benign	0.00
R4716:Phf11d	UTSW	14	59,590,791 (GRCm39)	missense	probably benign	0.13
R5122:Phf11d	UTSW	14	59,590,793 (GRCm39)	missense	possibly damaging	0.67
R5257:Phf11d	UTSW	14	59,590,160 (GRCm39)	missense	possibly damaging	0.92
R5375:Phf11d	UTSW	14	59,590,120 (GRCm39)	missense	probably null	0.14
R5919:Phf11d	UTSW	14	59,593,712 (GRCm39)	intron	probably benign
R6008:Phf11d	UTSW	14	59,602,898 (GRCm39)	unclassified	probably benign
R6809:Phf11d	UTSW	14	59,593,844 (GRCm39)	missense	probably damaging	1.00
R7006:Phf11d	UTSW	14	59,590,823 (GRCm39)	missense	probably benign	0.09
R7404:Phf11d	UTSW	14	59,596,942 (GRCm39)	missense	probably benign	0.00
R7860:Phf11d	UTSW	14	59,599,280 (GRCm39)	missense	probably damaging	1.00
R8411:Phf11d	UTSW	14	59,593,883 (GRCm39)	missense	probably benign	0.07
R9138:Phf11d	UTSW	14	59,602,833 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- AGCTAGCTGAATCCTCTCTCCAG -3'
(R):5'- ACCCAGTACAACTGTGTCTGC -3'

Sequencing Primer
(F):5'- GGCCCACAATAGACTATCCTTTG -3'
(R):5'- TACAACTGTGTCTGCAGACCGAG -3'

Posted On

2019-12-20