Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03062:Phf11b'

409482

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phf11b

Ensembl Gene

ENSMUSG00000091649

Gene Name

PHD finger protein 11B

Synonyms

Gm4902

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL03062

Quality Score

Status

Chromosome

Chromosomal Location

59558413-59578800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59562373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 177 (I177M)

Ref Sequence

ENSEMBL: ENSMUSP00000127857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166121]

AlphaFold

B4XVQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000166121
AA Change: I177M

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

SMART Domains

Protein: ENSMUSP00000127857
Gene: ENSMUSG00000091649
AA Change: I177M

Domain	Start	End	E-Value	Type
PHD	92	143	1.55e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,681,054 (GRCm39)	R714Q	possibly damaging	Het
Abcb5	T	A	12: 118,899,822 (GRCm39)	I282L	probably benign	Het
Aox1	A	T	1: 58,117,624 (GRCm39)	E835D	probably benign	Het
Arhgap17	C	T	7: 122,921,097 (GRCm39)		probably null	Het
Bltp1	T	C	3: 37,092,666 (GRCm39)		probably benign	Het
Calcr	C	T	6: 3,693,718 (GRCm39)	V359I	probably benign	Het
Chd9	T	A	8: 91,741,895 (GRCm39)		probably benign	Het
Col28a1	T	C	6: 8,017,029 (GRCm39)		probably benign	Het
Dnajc11	A	G	4: 152,055,318 (GRCm39)	E171G	possibly damaging	Het
Efhd1	T	C	1: 87,192,406 (GRCm39)	F79L	possibly damaging	Het
Fam83a	A	T	15: 57,856,473 (GRCm39)		probably null	Het
Fam98a	A	G	17: 75,847,100 (GRCm39)		probably benign	Het
Ficd	A	G	5: 113,876,314 (GRCm39)	Y163C	probably damaging	Het
Filip1l	T	C	16: 57,327,167 (GRCm39)	S66P	probably damaging	Het
Fmo5	A	G	3: 97,542,909 (GRCm39)	Y73C	probably damaging	Het
Galnt12	C	A	4: 47,122,566 (GRCm39)	R574S	possibly damaging	Het
Klc3	C	A	7: 19,128,987 (GRCm39)	G461W	probably damaging	Het
Lmo7	A	T	14: 102,149,515 (GRCm39)	T973S	possibly damaging	Het
Loxl1	C	A	9: 58,219,193 (GRCm39)	G326V	possibly damaging	Het
Lrrc24	A	G	15: 76,602,504 (GRCm39)	V127A	probably benign	Het
Lyrm1	T	C	7: 119,515,354 (GRCm39)		probably benign	Het
Med28	G	A	5: 45,679,811 (GRCm39)	V65I	probably damaging	Het
Mgat4c	T	C	10: 102,224,322 (GRCm39)	Y179H	probably damaging	Het
Micall1	A	C	15: 78,998,881 (GRCm39)	N58T	probably damaging	Het
Mtcl3	T	A	10: 29,074,945 (GRCm39)	F911Y	probably damaging	Het
Ncoa4	T	A	14: 31,895,377 (GRCm39)	M72K	possibly damaging	Het
Nutm1	T	C	2: 112,079,278 (GRCm39)	Q879R	probably benign	Het
Or4d6	C	T	19: 12,086,512 (GRCm39)	V133I	probably benign	Het
Or8b12i	T	A	9: 20,082,463 (GRCm39)	I135F	probably damaging	Het
Or8g52	T	A	9: 39,631,331 (GRCm39)	D269E	probably benign	Het
Pin1rt1	T	G	2: 104,545,052 (GRCm39)	I27L	probably benign	Het
Plxna2	T	C	1: 194,444,858 (GRCm39)	V750A	possibly damaging	Het
Pou5f1	A	T	17: 35,820,936 (GRCm39)	N126I	possibly damaging	Het
Ptprn	A	T	1: 75,224,517 (GRCm39)	H946Q	possibly damaging	Het
Rnf43	G	T	11: 87,623,130 (GRCm39)	G744*	probably null	Het
Rsbn1	C	A	3: 103,860,945 (GRCm39)		probably benign	Het
Sars2	T	A	7: 28,446,206 (GRCm39)	I145N	possibly damaging	Het
Sh3tc2	A	T	18: 62,144,951 (GRCm39)	E1135V	probably damaging	Het
Shroom1	A	G	11: 53,354,206 (GRCm39)	D42G	probably benign	Het
Sidt2	A	G	9: 45,853,981 (GRCm39)		probably null	Het
Slc39a8	T	C	3: 135,592,558 (GRCm39)		probably benign	Het
Slc9c1	T	C	16: 45,420,121 (GRCm39)	S1059P	probably benign	Het
Socs6	A	T	18: 88,887,970 (GRCm39)	M315K	probably benign	Het
Speer2	T	C	16: 69,654,865 (GRCm39)	E200G	probably damaging	Het
Sult2a5	T	A	7: 13,358,107 (GRCm39)		probably null	Het
Tmbim1	A	T	1: 74,330,858 (GRCm39)	I168N	possibly damaging	Het
Trim38	T	C	13: 23,966,946 (GRCm39)	V131A	probably damaging	Het
Ube2o	A	G	11: 116,432,468 (GRCm39)	S833P	probably damaging	Het
Uggt2	T	C	14: 119,312,758 (GRCm39)	I350M	probably damaging	Het
Unc80	A	G	1: 66,548,648 (GRCm39)	D640G	probably damaging	Het
Vmn2r13	A	G	5: 109,304,148 (GRCm39)	F761S	probably damaging	Het
Vmn2r54	C	T	7: 12,366,355 (GRCm39)	C193Y	probably damaging	Het

Other mutations in Phf11b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00560:Phf11b	APN	14	59,562,324 (GRCm39)	missense	probably damaging	1.00
IGL01116:Phf11b	APN	14	59,560,631 (GRCm39)	missense	probably benign	0.02
IGL01446:Phf11b	APN	14	59,578,740 (GRCm39)	missense	probably benign	0.02
IGL02224:Phf11b	APN	14	59,563,515 (GRCm39)	splice site	probably benign
PIT4131001:Phf11b	UTSW	14	59,560,611 (GRCm39)	splice site	probably benign
R1795:Phf11b	UTSW	14	59,565,554 (GRCm39)	missense	probably benign	0.00
R3774:Phf11b	UTSW	14	59,563,506 (GRCm39)	missense	probably benign	0.45
R4553:Phf11b	UTSW	14	59,578,734 (GRCm39)	missense	probably benign	0.10
R5460:Phf11b	UTSW	14	59,568,713 (GRCm39)	missense	probably benign	0.01
R5620:Phf11b	UTSW	14	59,558,953 (GRCm39)	missense	probably benign	0.01
R5985:Phf11b	UTSW	14	59,559,027 (GRCm39)	missense	possibly damaging	0.52
R5990:Phf11b	UTSW	14	59,562,375 (GRCm39)	missense	possibly damaging	0.57
R6775:Phf11b	UTSW	14	59,576,094 (GRCm39)	missense	probably benign	0.14
R6836:Phf11b	UTSW	14	59,565,572 (GRCm39)	missense	possibly damaging	0.81
R7197:Phf11b	UTSW	14	59,563,507 (GRCm39)	missense	probably benign	0.06
R7953:Phf11b	UTSW	14	59,568,722 (GRCm39)	missense	probably benign	0.35
R8043:Phf11b	UTSW	14	59,568,722 (GRCm39)	missense	probably benign	0.35
R8229:Phf11b	UTSW	14	59,568,730 (GRCm39)	missense	probably damaging	1.00
R8319:Phf11b	UTSW	14	59,576,146 (GRCm39)	missense	probably damaging	1.00
R9585:Phf11b	UTSW	14	59,568,704 (GRCm39)	missense	probably benign	0.02

Posted On

2016-08-02