Mutagenetix > Incidental Mutation

Incidental Mutation 'R5122:Phf11d'

393366

Institutional Source

Beutler Lab

Gene Symbol

Phf11d

Ensembl Gene

ENSMUSG00000068245

Gene Name

PHD finger protein 11D

Synonyms

D14Ertd668e

MMRRC Submission

042710-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R5122 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59584856-59602919 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59590793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 188 (M188K)

Ref Sequence

ENSEMBL: ENSMUSP00000125181 (fasta)

Gene Model

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

AlphaFold

A6H5X4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095157
AA Change: M188K

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092779
Gene: ENSMUSG00000068245
AA Change: M188K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160425
AA Change: M188K

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124578
Gene: ENSMUSG00000068245
AA Change: M188K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161031
AA Change: M188K

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125181
Gene: ENSMUSG00000068245
AA Change: M188K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161754

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,750,409 (GRCm39)	S1727P	probably damaging	Het
Actr8	A	T	14: 29,704,672 (GRCm39)	K57N	possibly damaging	Het
Bcan	G	T	3: 87,901,514 (GRCm39)	S396Y	probably damaging	Het
Bltp1	A	G	3: 37,088,906 (GRCm39)		probably null	Het
Bmp2k	A	G	5: 97,234,874 (GRCm39)		probably benign	Het
Cd274	A	G	19: 29,357,965 (GRCm39)	H219R	possibly damaging	Het
Cdc16	A	T	8: 13,814,570 (GRCm39)	Y118F	probably damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Chchd3	T	C	6: 32,945,240 (GRCm39)	R89G	probably benign	Het
Clstn2	C	T	9: 97,343,474 (GRCm39)	V658M	probably damaging	Het
Cpt1b	A	G	15: 89,308,226 (GRCm39)	S160P	probably benign	Het
Crym	T	C	7: 119,794,718 (GRCm39)	N167S	probably benign	Het
Dhx16	T	A	17: 36,194,202 (GRCm39)	Y438N	probably damaging	Het
Dnah12	A	G	14: 26,439,155 (GRCm39)	R536G	probably benign	Het
Dnajc11	A	G	4: 152,061,454 (GRCm39)	D382G	possibly damaging	Het
Dync1h1	G	A	12: 110,596,114 (GRCm39)	G1547D	probably damaging	Het
Eml3	T	A	19: 8,915,060 (GRCm39)		probably null	Het
Ep400	G	A	5: 110,816,036 (GRCm39)	P2799S	probably damaging	Het
Ephb6	T	C	6: 41,590,338 (GRCm39)	V30A	probably benign	Het
Fam53b	T	A	7: 132,380,991 (GRCm39)		probably benign	Het
Fcrl1	A	G	3: 87,293,081 (GRCm39)	K246R	probably benign	Het
Focad	G	A	4: 88,325,602 (GRCm39)		probably null	Het
Glipr1l2	T	C	10: 111,942,961 (GRCm39)	I272T	possibly damaging	Het
Gm8104	A	G	14: 42,966,550 (GRCm39)	I101V	probably benign	Het
Grm5	A	G	7: 87,724,028 (GRCm39)	I773V	probably damaging	Het
Hyal1	A	T	9: 107,455,268 (GRCm39)	T193S	probably benign	Het
Igkv10-94	C	A	6: 68,681,655 (GRCm39)	G62*	probably null	Het
Itsn1	A	G	16: 91,690,732 (GRCm39)		probably benign	Het
Kank4	A	G	4: 98,644,804 (GRCm39)	S983P	probably damaging	Het
Krtap16-1	C	A	11: 99,876,523 (GRCm39)	V294F	probably damaging	Het
Lama3	T	G	18: 12,672,823 (GRCm39)	V866G	possibly damaging	Het
Lrba	C	T	3: 86,256,461 (GRCm39)	R1268*	probably null	Het
Lrriq1	C	T	10: 103,023,314 (GRCm39)	V984I	probably damaging	Het
Macf1	A	C	4: 123,346,085 (GRCm39)	V4136G	probably damaging	Het
Mdn1	A	T	4: 32,670,593 (GRCm39)	E419D	probably damaging	Het
Nedd4l	A	G	18: 65,324,518 (GRCm39)	Y473C	probably damaging	Het
Nod2	G	T	8: 89,390,748 (GRCm39)	D330Y	probably damaging	Het
Nt5c2	C	T	19: 46,878,360 (GRCm39)	C458Y	probably damaging	Het
Numa1	T	C	7: 101,662,976 (GRCm39)	I681T	probably damaging	Het
Or10a5	C	A	7: 106,636,055 (GRCm39)	S231*	probably null	Het
Papolg	C	T	11: 23,817,501 (GRCm39)		probably null	Het
Parn	A	G	16: 13,472,311 (GRCm39)		probably null	Het
Pgap2	T	C	7: 101,880,598 (GRCm39)	F42S	probably damaging	Het
Pofut2	G	C	10: 77,104,399 (GRCm39)	R392P	probably damaging	Het
Prpf18	T	C	2: 4,648,520 (GRCm39)	D102G	probably damaging	Het
Rreb1	T	A	13: 38,114,744 (GRCm39)	I701N	probably benign	Het
Slc26a5	T	C	5: 22,052,194 (GRCm39)	K45R	probably damaging	Het
Slc8a3	A	G	12: 81,361,032 (GRCm39)		probably null	Het
Slf1	T	A	13: 77,198,106 (GRCm39)	M723L	probably benign	Het
Spata31e5	A	G	1: 28,819,141 (GRCm39)	S47P	probably benign	Het
Sra1	T	C	18: 36,800,647 (GRCm39)	T187A	probably benign	Het
Stk17b	A	C	1: 53,815,717 (GRCm39)	N27K	probably damaging	Het
Tbc1d9	T	A	8: 83,963,172 (GRCm39)	Y295N	probably damaging	Het
Tubgcp6	A	G	15: 89,000,306 (GRCm39)	V353A	probably damaging	Het
Unc80	A	T	1: 66,718,749 (GRCm39)	T2991S	possibly damaging	Het
Urb1	G	A	16: 90,548,983 (GRCm39)	R2242*	probably null	Het
Vasp	T	C	7: 18,998,697 (GRCm39)	N20S	probably benign	Het
Zfp263	A	G	16: 3,567,719 (GRCm39)	H390R	probably damaging	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
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
R7887:Phf11d	UTSW	14	59,597,029 (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'- CCAGCTCCAATAATTTTGATACAGC -3'
(R):5'- TGAGAGTGCCATTTGGATCC -3'

Sequencing Primer
(F):5'- ACAGCAGTGTTGTAATGGATTAC -3'
(R):5'- AGTGCCATTTGGATCCAGCAG -3'

Posted On

2016-06-15