Mutagenetix > Incidental Mutation

Incidental Mutation 'R6875:Phf21b'

536397

Institutional Source

Beutler Lab

Gene Symbol

Phf21b

Ensembl Gene

ENSMUSG00000016624

Gene Name

PHD finger protein 21B

Synonyms

A730032D07Rik

MMRRC Submission

044971-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6875 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84669582-84740250 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84671647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 416 (C416S)

Ref Sequence

ENSEMBL: ENSMUSP00000125355 (fasta)

Gene Model

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

AlphaFold

Q8C966

Predicted Effect

probably damaging
Transcript: ENSMUST00000016768
AA Change: C404S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000016768
Gene: ENSMUSG00000016624
AA Change: C404S

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: C416S

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

SMART Domains

Protein: ENSMUSP00000125355
Gene: ENSMUSG00000016624
AA Change: C416S

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

probably benign
Transcript: ENSMUST00000162044

SMART Domains

Protein: ENSMUSP00000124941
Gene: ENSMUSG00000016624

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	T	C	15: 12,812,154 (GRCm39)	H270R	probably damaging	Het
Abcb1a	T	C	5: 8,751,628 (GRCm39)	I336T	probably benign	Het
Adam19	T	A	11: 46,003,702 (GRCm39)	F177I	probably benign	Het
Ankrd53	T	C	6: 83,745,155 (GRCm39)	V455A	probably damaging	Het
Arrdc1	A	G	2: 24,815,677 (GRCm39)	S415P	probably benign	Het
Atp10a	T	C	7: 58,447,100 (GRCm39)	L614P	probably benign	Het
Catsper1	G	T	19: 5,393,991 (GRCm39)	V668F	probably damaging	Het
Cluh	T	A	11: 74,552,744 (GRCm39)	D596E	probably damaging	Het
Cnot10	A	G	9: 114,444,175 (GRCm39)	S407P	probably benign	Het
Commd6	T	C	14: 101,871,786 (GRCm39)	T86A	probably damaging	Het
D5Ertd579e	A	T	5: 36,762,001 (GRCm39)		probably null	Het
Eif3l	A	G	15: 78,969,760 (GRCm39)	D252G	probably damaging	Het
Epha2	A	T	4: 141,055,779 (GRCm39)	S962C	probably damaging	Het
Fcho1	C	A	8: 72,167,069 (GRCm39)		probably null	Het
Fgf23	G	T	6: 127,050,179 (GRCm39)	G63C	probably damaging	Het
Flnc	A	T	6: 29,445,748 (GRCm39)	Y834F	probably damaging	Het
Gcn1	T	C	5: 115,726,169 (GRCm39)	L608P	probably damaging	Het
Hdac5	T	A	11: 102,093,102 (GRCm39)	E545V	probably damaging	Het
Hecw2	A	T	1: 53,976,291 (GRCm39)	M166K	probably benign	Het
Ikbkb	T	C	8: 23,155,909 (GRCm39)	D586G	probably damaging	Het
Il36g	G	C	2: 24,078,633 (GRCm39)		probably null	Het
Ipo13	A	T	4: 117,762,108 (GRCm39)	I422N	possibly damaging	Het
Iqgap3	GGAGAG	GGAG	3: 88,020,078 (GRCm39)		probably null	Het
Kat6a	G	A	8: 23,422,377 (GRCm39)	A896T	probably benign	Het
Kif28	A	G	1: 179,563,559 (GRCm39)	I139T	probably damaging	Het
Klhl25	A	G	7: 75,516,090 (GRCm39)	E332G	probably damaging	Het
Krt8	C	T	15: 101,906,343 (GRCm39)	A389T	probably benign	Het
Msrb3	T	C	10: 120,620,011 (GRCm39)	S175G	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myo10	T	C	15: 25,805,745 (GRCm39)	Y1709H	probably benign	Het
Nckap5	A	G	1: 125,950,931 (GRCm39)	S1519P	probably benign	Het
Npnt	T	A	3: 132,615,671 (GRCm39)	D124V	probably damaging	Het
Nr1d1	A	T	11: 98,661,662 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,290,477 (GRCm39)	Y365C	probably benign	Het
Or4f56	A	T	2: 111,703,306 (GRCm39)	I298N	possibly damaging	Het
Prpsap1	A	G	11: 116,362,264 (GRCm39)	S373P	probably damaging	Het
Qrfprl	A	T	6: 65,433,320 (GRCm39)	N380I	probably benign	Het
Rab28	T	C	5: 41,860,877 (GRCm39)	T26A	probably damaging	Het
Rbbp8nl	A	G	2: 179,921,019 (GRCm39)	I455T	probably benign	Het
Rnft2	G	A	5: 118,366,883 (GRCm39)	A285V	possibly damaging	Het
Rrp36	G	T	17: 46,983,297 (GRCm39)	Q106K	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn5a	A	G	9: 119,315,710 (GRCm39)	L1666P	probably damaging	Het
Siglecf	A	C	7: 43,004,624 (GRCm39)	T318P	probably benign	Het
Slc22a1	C	T	17: 12,886,192 (GRCm39)	W147*	probably null	Het
Smchd1	T	C	17: 71,660,501 (GRCm39)	I1868V	probably damaging	Het
Snx21	A	G	2: 164,633,822 (GRCm39)	S203G	probably damaging	Het
Srl	T	C	16: 4,300,695 (GRCm39)	K792R	probably benign	Het
Srrt	A	G	5: 137,296,935 (GRCm39)	F100S	probably benign	Het
Stard9	G	T	2: 120,527,917 (GRCm39)	M1391I	probably benign	Het
Syne2	A	G	12: 76,082,404 (GRCm39)	E119G	probably damaging	Het
Syt11	G	T	3: 88,669,462 (GRCm39)	S143R	possibly damaging	Het
Tiparp	T	A	3: 65,439,063 (GRCm39)	H126Q	probably benign	Het
Tulp2	C	A	7: 45,168,038 (GRCm39)	T150K	probably benign	Het
Ugt2b37	T	A	5: 87,390,288 (GRCm39)	Y386F	probably benign	Het
Usp31	C	T	7: 121,248,863 (GRCm39)	W860*	probably null	Het
Zfp317	A	G	9: 19,554,961 (GRCm39)	R30G	probably damaging	Het
Zfp709	C	A	8: 72,642,851 (GRCm39)	N93K	possibly 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
R3683:Phf21b	UTSW	15	84,682,891 (GRCm39)	missense	probably damaging	1.00
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
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'- CCATGAGTGTTAGACAGGTCC -3'
(R):5'- AAGCTCTACGGGGACAGTCATC -3'

Sequencing Primer
(F):5'- CAGGTCCCTGGGGTCAGTTG -3'
(R):5'- GGACAGTCATCCCTGCCACTC -3'

Posted On

2018-10-18