Mutagenetix > Incidental Mutation

Incidental Mutation 'R8411:Phf11d'

652699

Institutional Source

Beutler Lab

Gene Symbol

Phf11d

Ensembl Gene

ENSMUSG00000068245

Gene Name

PHD finger protein 11D

Synonyms

D14Ertd668e

MMRRC Submission

067881-MU

Accession Numbers

Essential gene?

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

Stock #

R8411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59584856-59602919 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59593883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 97 (N97S)

Ref Sequence

ENSEMBL: ENSMUSP00000092779 (fasta)

Gene Model

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

AlphaFold

A6H5X4

Predicted Effect

probably benign
Transcript: ENSMUST00000095157
AA Change: N97S

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000092779
Gene: ENSMUSG00000068245
AA Change: N97S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160425
AA Change: N97S

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124578
Gene: ENSMUSG00000068245
AA Change: N97S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161031
AA Change: N97S

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000125181
Gene: ENSMUSG00000068245
AA Change: N97S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,285,588 (GRCm39)	S89P	probably benign	Het
Aatf	A	T	11: 84,361,502 (GRCm39)	M367K	probably benign	Het
Adam18	A	T	8: 25,142,143 (GRCm39)	I211N	probably damaging	Het
Angpt1	T	C	15: 42,290,430 (GRCm39)	Y478C	probably damaging	Het
Apba2	A	T	7: 64,386,674 (GRCm39)	I434F	probably damaging	Het
Arfgef1	T	A	1: 10,286,759 (GRCm39)	K50N	probably benign	Het
Arfgef2	A	T	2: 166,715,903 (GRCm39)	Q1397H	probably benign	Het
Ascc2	G	A	11: 4,597,208 (GRCm39)	R129Q	probably damaging	Het
Atxn1	A	G	13: 45,720,032 (GRCm39)	V621A	probably benign	Het
Catsperz	A	T	19: 6,899,930 (GRCm39)	L192M	probably benign	Het
Cd5	G	A	19: 10,697,585 (GRCm39)	P465S	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cfap61	A	G	2: 145,789,103 (GRCm39)	E94G	probably benign	Het
Chd1	A	G	17: 15,982,711 (GRCm39)	H1392R	probably damaging	Het
Csnk1a1	A	G	18: 61,688,888 (GRCm39)	I23V	probably benign	Het
Ctnnd2	C	T	15: 30,647,179 (GRCm39)	R292C	probably benign	Het
Dcaf6	T	A	1: 165,216,244 (GRCm39)	H453L	probably benign	Het
Dnah3	C	A	7: 119,610,253 (GRCm39)	D1728Y	probably damaging	Het
Dtx3	T	C	10: 127,028,693 (GRCm39)	K179E	possibly damaging	Het
Fam3b	T	A	16: 97,283,053 (GRCm39)	Y74F	probably benign	Het
Gm5464	T	C	14: 67,106,555 (GRCm39)	L64P	unknown	Het
Gm5624	T	G	14: 44,799,347 (GRCm39)	N70T		Het
Kcnh7	T	A	2: 62,594,952 (GRCm39)	H706L	probably damaging	Het
Kdm2b	C	T	5: 123,018,239 (GRCm39)	R1067H	probably damaging	Het
Klhl28	A	T	12: 64,996,864 (GRCm39)	H492Q	probably damaging	Het
Loxl3	T	A	6: 83,027,605 (GRCm39)	C716S	probably damaging	Het
Ltbp2	A	G	12: 84,833,187 (GRCm39)	Y1474H	probably damaging	Het
Mcm3	C	T	1: 20,886,980 (GRCm39)	V142I	probably benign	Het
Mmp24	G	T	2: 155,655,935 (GRCm39)	V458L	probably benign	Het
Mpl	C	A	4: 118,303,306 (GRCm39)	S502I		Het
Nfatc1	A	T	18: 80,710,257 (GRCm39)	V503D	probably damaging	Het
Nim1k	A	G	13: 120,175,807 (GRCm39)	I133T	possibly damaging	Het
Nr1d2	T	C	14: 18,215,031 (GRCm38)	Y327C	probably damaging	Het
Oma1	C	T	4: 103,186,113 (GRCm39)	R360*	probably null	Het
Oog2	T	A	4: 143,920,743 (GRCm39)	W59R	probably damaging	Het
Or4c109	T	C	2: 88,818,409 (GRCm39)	T46A	probably benign	Het
Pcdh10	A	G	3: 45,333,974 (GRCm39)	E96G	probably damaging	Het
Pcna	T	A	2: 132,093,850 (GRCm39)	T98S	probably benign	Het
Pcnx3	C	T	19: 5,729,618 (GRCm39)	C899Y	possibly damaging	Het
Plekhg4	G	A	8: 106,103,961 (GRCm39)	W431*	probably null	Het
Plk4	A	G	3: 40,767,901 (GRCm39)	T815A	probably benign	Het
Pnma2	C	T	14: 67,153,762 (GRCm39)	T62I	possibly damaging	Het
Ppp1r9a	C	T	6: 5,057,568 (GRCm39)	R548W	probably damaging	Het
Ptx3	A	G	3: 66,132,201 (GRCm39)	S241G	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rplp0	A	T	5: 115,698,823 (GRCm39)	K26N	probably damaging	Het
Sec62	A	C	3: 30,872,931 (GRCm39)	E338A	unknown	Het
Sema6a	T	C	18: 47,382,022 (GRCm39)	M842V	probably benign	Het
Serpina3j	T	C	12: 104,281,043 (GRCm39)	V72A	probably benign	Het
Siglecf	T	C	7: 43,001,368 (GRCm39)	F112S	probably damaging	Het
Slc29a4	A	G	5: 142,705,880 (GRCm39)	N455D	probably damaging	Het
Slc6a11	T	A	6: 114,108,398 (GRCm39)	F54Y	probably benign	Het
Spag6	G	A	2: 18,715,394 (GRCm39)	V80M	probably damaging	Het
Spic	T	C	10: 88,514,498 (GRCm39)	E34G	possibly damaging	Het
Tecpr2	A	G	12: 110,898,154 (GRCm39)	K469E	possibly damaging	Het
Them7	T	A	2: 105,128,190 (GRCm39)	L57Q	probably benign	Het
Tlr3	G	A	8: 45,849,978 (GRCm39)	A897V	probably damaging	Het
Tnp2	A	G	16: 10,606,372 (GRCm39)	C32R	possibly damaging	Het
Trpm6	A	T	19: 18,831,332 (GRCm39)	Q1399L	probably benign	Het
Ttn	C	A	2: 76,677,015 (GRCm39)	E11074*	probably null	Het
Ubash3b	G	A	9: 40,954,781 (GRCm39)	A243V	probably benign	Het
Vash1	G	A	12: 86,726,952 (GRCm39)	R64Q	possibly damaging	Het
Vmn1r167	T	A	7: 23,204,981 (GRCm39)	M12L	possibly damaging	Het
Vmn2r111	T	A	17: 22,767,562 (GRCm39)	H645L	probably benign	Het
Vmn2r75	A	T	7: 85,797,722 (GRCm39)	I697K	probably damaging	Het
Vmn2r87	A	G	10: 130,308,126 (GRCm39)	I704T	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
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
R7887:Phf11d	UTSW	14	59,597,029 (GRCm39)	missense	probably damaging	1.00
R9138:Phf11d	UTSW	14	59,602,833 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- AAGTCACAGGCTAGCCATTC -3'
(R):5'- CCAGTCGACTACAGTTTTGTGG -3'

Sequencing Primer
(F):5'- GTCACAGGCTAGCCATTCCTTAAC -3'
(R):5'- CTCATGGGCTGCCAAATCTAAGTG -3'

Posted On

2020-10-20