Mutagenetix > Incidental Mutation

Incidental Mutation 'R3683:Phf21b'

269446

Institutional Source

Beutler Lab

Gene Symbol

Phf21b

Ensembl Gene

ENSMUSG00000016624

Gene Name

PHD finger protein 21B

Synonyms

A730032D07Rik

MMRRC Submission

040681-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3683 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84669582-84740250 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84682891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 222 (I222T)

Ref Sequence

ENSEMBL: ENSMUSP00000016768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016768] [ENSMUST00000159939] [ENSMUST00000162044]

AlphaFold

Q8C966

Predicted Effect

probably damaging
Transcript: ENSMUST00000016768
AA Change: I222T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000016768
Gene: ENSMUSG00000016624
AA Change: I222T

Domain	Start	End	E-Value	Type
low complexity region	188	202	N/A	INTRINSIC
PHD	297	340	6.64e-10	SMART
coiled coil region	368	403	N/A	INTRINSIC
low complexity region	456	467	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000159939
AA Change: I234T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125355
Gene: ENSMUSG00000016624
AA Change: I234T

Domain	Start	End	E-Value	Type
low complexity region	200	214	N/A	INTRINSIC
PHD	309	352	6.64e-10	SMART
coiled coil region	380	415	N/A	INTRINSIC
low complexity region	468	479	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160389

Predicted Effect

probably damaging
Transcript: ENSMUST00000162044
AA Change: I234T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124941
Gene: ENSMUSG00000016624
AA Change: I234T

Domain	Start	End	E-Value	Type
low complexity region	200	214	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	T	C	X: 80,463,841 (GRCm39)	D622G	possibly damaging	Het
Acad11	T	C	9: 103,992,543 (GRCm39)	I495T	probably damaging	Het
Acat1	C	T	9: 53,498,765 (GRCm39)	A307T	probably damaging	Het
Ahdc1	T	C	4: 132,793,013 (GRCm39)	L1418P	possibly damaging	Het
Bmp2	T	A	2: 133,396,392 (GRCm39)	V16D	probably benign	Het
Cables2	G	A	2: 179,906,263 (GRCm39)	R121*	probably null	Het
Calb2	A	G	8: 110,883,620 (GRCm39)	Y35H	probably benign	Het
Cdon	A	G	9: 35,400,328 (GRCm39)	E1014G	possibly damaging	Het
Clcn7	T	C	17: 25,369,567 (GRCm39)	L301P	possibly damaging	Het
Corin	T	C	5: 72,488,198 (GRCm39)	D610G	probably damaging	Het
Csrnp2	A	T	15: 100,379,879 (GRCm39)	S471T	probably benign	Het
Dnah7a	C	A	1: 53,483,675 (GRCm39)	M3367I	probably benign	Het
Elp4	A	T	2: 105,533,106 (GRCm39)	M413K	possibly damaging	Het
Fat1	A	G	8: 45,470,975 (GRCm39)	D1593G	probably benign	Het
Fbxw24	G	A	9: 109,437,110 (GRCm39)	P259L	possibly damaging	Het
Ggta1	T	A	2: 35,298,000 (GRCm39)	T162S	probably benign	Het
Gldn	G	A	9: 54,245,624 (GRCm39)	E392K	possibly damaging	Het
Klra9	T	C	6: 130,168,260 (GRCm39)	N2S	probably benign	Het
Lama1	A	G	17: 68,075,328 (GRCm39)	D1015G	probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Nrxn1	T	C	17: 90,930,880 (GRCm39)	D779G	probably damaging	Het
Or2d3c	G	A	7: 106,526,301 (GRCm39)	R122*	probably null	Het
Or4a73	C	A	2: 89,421,099 (GRCm39)	R120L	probably damaging	Het
Or4c118	A	T	2: 88,975,364 (GRCm39)	M1K	probably null	Het
Or5d37	T	A	2: 87,923,603 (GRCm39)	I226F	probably damaging	Het
Osmr	A	C	15: 6,866,534 (GRCm39)	V380G	possibly damaging	Het
Ptprq	G	T	10: 107,544,489 (GRCm39)	T347K	probably benign	Het
Sema6d	G	T	2: 124,496,146 (GRCm39)	L63F	possibly damaging	Het
Serpinb9b	C	T	13: 33,213,581 (GRCm39)	A46V	probably damaging	Het
Sf3b3	A	G	8: 111,540,253 (GRCm39)		probably null	Het
Smpd1	T	A	7: 105,204,609 (GRCm39)	C163S	probably damaging	Het
Stat4	C	T	1: 52,052,981 (GRCm39)	T54I	possibly damaging	Het
Tacc2	A	G	7: 130,226,800 (GRCm39)	S1162G	probably benign	Het
Tbc1d20	C	T	2: 152,153,737 (GRCm39)	T354I	probably benign	Het
Tbc1d31	T	C	15: 57,815,210 (GRCm39)		probably null	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Unc79	T	A	12: 103,041,062 (GRCm39)	N698K	probably benign	Het
Utrn	A	G	10: 12,542,579 (GRCm39)	M1802T	probably benign	Het
Vmn1r8	A	C	6: 57,013,260 (GRCm39)	T104P	probably damaging	Het
Vmn2r13	C	A	5: 109,304,721 (GRCm39)	R570I	probably damaging	Het
Zfand6	G	A	7: 84,283,570 (GRCm39)	P11S	probably damaging	Het
Zfp1005	A	G	2: 150,109,976 (GRCm39)	K222R	probably benign	Het
Zmpste24	A	G	4: 120,918,288 (GRCm39)	F445L	probably damaging	Het

Other mutations in Phf21b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01785:Phf21b	APN	15	84,692,262 (GRCm39)	splice site	probably benign
IGL02311:Phf21b	APN	15	84,678,095 (GRCm39)	critical splice donor site	probably null
IGL02700:Phf21b	APN	15	84,687,662 (GRCm39)	missense	probably benign	0.00
IGL03201:Phf21b	APN	15	84,671,448 (GRCm39)	missense	probably benign	0.32
R0113:Phf21b	UTSW	15	84,688,968 (GRCm39)	missense	probably damaging	1.00
R1464:Phf21b	UTSW	15	84,689,160 (GRCm39)	missense	probably damaging	0.99
R1464:Phf21b	UTSW	15	84,689,160 (GRCm39)	missense	probably damaging	0.99
R1529:Phf21b	UTSW	15	84,681,597 (GRCm39)	missense	probably damaging	1.00
R1834:Phf21b	UTSW	15	84,681,547 (GRCm39)	missense	probably damaging	1.00
R1854:Phf21b	UTSW	15	84,738,963 (GRCm39)	missense	probably benign	0.41
R4729:Phf21b	UTSW	15	84,738,942 (GRCm39)	nonsense	probably null
R5476:Phf21b	UTSW	15	84,671,466 (GRCm39)	missense	probably benign
R5526:Phf21b	UTSW	15	84,676,006 (GRCm39)	missense	probably benign	0.00
R5659:Phf21b	UTSW	15	84,678,101 (GRCm39)	nonsense	probably null
R6208:Phf21b	UTSW	15	84,679,317 (GRCm39)	missense	probably damaging	0.97
R6281:Phf21b	UTSW	15	84,738,946 (GRCm39)	missense	probably benign	0.02
R6288:Phf21b	UTSW	15	84,739,272 (GRCm39)	intron	probably benign
R6322:Phf21b	UTSW	15	84,671,580 (GRCm39)	missense	possibly damaging	0.94
R6875:Phf21b	UTSW	15	84,671,647 (GRCm39)	missense	probably damaging	1.00
R7087:Phf21b	UTSW	15	84,676,033 (GRCm39)	missense	probably damaging	1.00
R7296:Phf21b	UTSW	15	84,739,918 (GRCm39)	start codon destroyed	probably null	0.77
R7331:Phf21b	UTSW	15	84,675,295 (GRCm39)	missense	probably benign	0.00
R7439:Phf21b	UTSW	15	84,689,104 (GRCm39)	missense	probably damaging	1.00
R7744:Phf21b	UTSW	15	84,689,070 (GRCm39)	missense	probably damaging	0.99
R7949:Phf21b	UTSW	15	84,676,036 (GRCm39)	missense	probably damaging	1.00
R9008:Phf21b	UTSW	15	84,671,563 (GRCm39)	missense	probably damaging	1.00
R9458:Phf21b	UTSW	15	84,738,995 (GRCm39)	missense	possibly damaging	0.89
R9468:Phf21b	UTSW	15	84,689,299 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAATGTACAGTCGTGGGATC -3'
(R):5'- TGACCTTGGACAGTCTCTGG -3'

Sequencing Primer
(F):5'- GAATGACTGTGCCCCTATTACCTGG -3'
(R):5'- GGTATTGGAGTTCTCCAGGATTCCC -3'

Posted On

2015-02-19