Mutagenetix > Incidental Mutation

Incidental Mutation 'R6809:Phf11d'

533725

Institutional Source

Beutler Lab

Gene Symbol

Phf11d

Ensembl Gene

ENSMUSG00000068245

Gene Name

PHD finger protein 11D

Synonyms

D14Ertd668e

MMRRC Submission

044922-MU

Accession Numbers

Essential gene?

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

Stock #

R6809 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59584856-59602919 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59593844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 110 (C110F)

Ref Sequence

ENSEMBL: ENSMUSP00000124578 (fasta)

Gene Model

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

AlphaFold

A6H5X4

Predicted Effect

probably damaging
Transcript: ENSMUST00000095157
AA Change: C110F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092779
Gene: ENSMUSG00000068245
AA Change: C110F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000160425
AA Change: C110F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124578
Gene: ENSMUSG00000068245
AA Change: C110F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161031
AA Change: C110F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125181
Gene: ENSMUSG00000068245
AA Change: C110F

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

96% (51/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	T	A	1: 192,857,089 (GRCm39)	V147E	possibly damaging	Het
Abtb3	A	G	10: 85,467,240 (GRCm39)	T732A	probably benign	Het
Adgrv1	A	T	13: 81,621,072 (GRCm39)	M3893K	probably benign	Het
Aox3	T	C	1: 58,157,840 (GRCm39)	S66P	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Bloc1s5	A	G	13: 38,787,961 (GRCm39)	V141A	probably benign	Het
Bltp1	A	G	3: 36,928,431 (GRCm39)	N61S	probably damaging	Het
Col28a1	T	C	6: 7,999,468 (GRCm39)	Y1083C	probably damaging	Het
Crb1	A	G	1: 139,170,864 (GRCm39)	V842A	probably benign	Het
Dapk1	A	G	13: 60,899,103 (GRCm39)	S858G	probably benign	Het
Dlgap2	G	T	8: 14,229,619 (GRCm39)		probably benign	Het
Dpysl4	A	G	7: 138,673,576 (GRCm39)	D199G	probably benign	Het
Eml6	C	T	11: 29,753,161 (GRCm39)	V917I	probably benign	Het
Fut9	T	A	4: 25,620,647 (GRCm39)	T56S	probably benign	Het
Gtdc1	G	C	2: 44,465,563 (GRCm39)	S214*	probably null	Het
Gtdc1	A	G	2: 44,715,396 (GRCm39)	F49S	probably damaging	Het
Hoxd9	A	G	2: 74,529,590 (GRCm39)	Y282C	probably damaging	Het
Hrc	A	G	7: 44,985,803 (GRCm39)	E318G	probably benign	Het
Ikzf2	T	C	1: 69,609,661 (GRCm39)	T195A	probably damaging	Het
Krt36	A	T	11: 99,996,335 (GRCm39)	S30T	probably benign	Het
Lrp1	A	G	10: 127,390,925 (GRCm39)	F2991L	probably benign	Het
Lrrc34	T	A	3: 30,688,749 (GRCm39)	Q184L	possibly damaging	Het
Mapk1	A	T	16: 16,853,326 (GRCm39)	M49L	probably benign	Het
Mroh2a	G	T	1: 88,162,938 (GRCm39)	Q360H	probably benign	Het
Mrpl48	A	G	7: 100,195,574 (GRCm39)		probably benign	Het
Ncln	A	G	10: 81,323,512 (GRCm39)		probably null	Het
Nol4	T	A	18: 23,053,882 (GRCm39)	Q96L	probably damaging	Het
Or2y1e	G	T	11: 49,218,687 (GRCm39)	V150L	probably benign	Het
Or5g25	G	A	2: 85,478,317 (GRCm39)	A116V	probably damaging	Het
Padi2	A	G	4: 140,674,077 (GRCm39)		probably null	Het
Pak5	T	G	2: 135,939,501 (GRCm39)	I545L	possibly damaging	Het
Paqr5	T	A	9: 61,876,064 (GRCm39)	R157W	probably null	Het
Pard3b	G	A	1: 62,200,340 (GRCm39)	R293H	probably damaging	Het
Pkn2	G	A	3: 142,504,765 (GRCm39)	P804S	probably damaging	Het
Pnpla6	G	A	8: 3,584,611 (GRCm39)	C743Y	possibly damaging	Het
Pramel14	A	G	4: 143,719,651 (GRCm39)	V238A	probably benign	Het
Pramel58	C	A	5: 94,831,277 (GRCm39)	Q95K	probably benign	Het
Psip1	A	G	4: 83,386,879 (GRCm39)	M164T	probably benign	Het
Rgs22	C	G	15: 36,048,910 (GRCm39)	S914T	probably damaging	Het
Rufy4	G	A	1: 74,172,206 (GRCm39)	V310I	probably benign	Het
Ryr2	G	A	13: 11,741,816 (GRCm39)	L2122F	probably damaging	Het
Sgcb	T	G	5: 73,798,036 (GRCm39)	N142T	probably benign	Het
Slc27a6	A	G	18: 58,738,126 (GRCm39)	E394G	probably benign	Het
Slc29a2	T	C	19: 5,079,271 (GRCm39)	V298A	probably damaging	Het
Slf2	C	A	19: 44,931,907 (GRCm39)	T654N	probably damaging	Het
Spata4	A	C	8: 55,055,368 (GRCm39)	K123Q	possibly damaging	Het
Taar7b	T	C	10: 23,876,756 (GRCm39)	V307A	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Ttn	T	C	2: 76,693,983 (GRCm39)	E295G	possibly damaging	Het
Ubqln4	A	T	3: 88,462,679 (GRCm39)	Q48L	possibly damaging	Het
Ugt1a10	T	A	1: 87,983,647 (GRCm39)	D148E	probably damaging	Het
Vmn2r85	T	A	10: 130,261,795 (GRCm39)	N181Y	probably benign	Het
Wdfy3	C	T	5: 102,071,813 (GRCm39)	V1026I	possibly 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
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'- TGAAGCCGAGAAGTTCACTG -3'
(R):5'- AATATGCCAGTGATGTCCGGG -3'

Sequencing Primer
(F):5'- AGCCGAGAAGTTCACTGGTATCC -3'
(R):5'- TGTCCGGGACAAAAACTCATG -3'

Posted On

2018-09-12