Mutagenetix > Incidental Mutation

Incidental Mutation 'R4256:Zfp551'

321819

Institutional Source

Beutler Lab

Gene Symbol

Zfp551

Ensembl Gene

ENSMUSG00000034071

Gene Name

zinc finger protein 551

Synonyms

9630004E07Rik

MMRRC Submission

041069-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R4256 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12149080-12156678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12150318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 364 (H364Y)

Ref Sequence

ENSEMBL: ENSMUSP00000079222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080348] [ENSMUST00000120220]

AlphaFold

B2RUI1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080348
AA Change: H364Y

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079222
Gene: ENSMUSG00000034071
AA Change: H364Y

Domain	Start	End	E-Value	Type
KRAB	48	109	2.3e-14	SMART
ZnF_C2H2	337	359	2.57e-3	SMART
ZnF_C2H2	365	387	1.47e-3	SMART
ZnF_C2H2	393	415	3.69e-4	SMART
ZnF_C2H2	421	443	1.22e-4	SMART
ZnF_C2H2	449	471	3.11e-2	SMART
ZnF_C2H2	477	499	3.44e-4	SMART
ZnF_C2H2	505	527	9.73e-4	SMART
ZnF_C2H2	533	555	1.6e-4	SMART
ZnF_C2H2	561	583	1.38e-3	SMART
ZnF_C2H2	589	611	8.47e-4	SMART
ZnF_C2H2	617	639	6.99e-5	SMART
ZnF_C2H2	645	667	2.09e-3	SMART
ZnF_C2H2	673	695	1.98e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120220

Predicted Effect

probably benign
Transcript: ENSMUST00000123877

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

93% (41/44)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Arsi	T	C	18: 61,050,388 (GRCm39)	W424R	probably damaging	Het
Atad2	A	G	15: 57,980,252 (GRCm39)	S411P	probably damaging	Het
Cdhr2	G	A	13: 54,861,818 (GRCm39)	V72I	probably damaging	Het
Celf4	T	C	18: 25,624,258 (GRCm39)	I414V	probably damaging	Het
Cfap43	G	A	19: 47,770,844 (GRCm39)	T689I	probably benign	Het
Cpne9	C	T	6: 113,259,984 (GRCm39)		probably benign	Het
Cyp3a11	A	T	5: 145,806,005 (GRCm39)	S121T	probably benign	Het
Dip2c	C	A	13: 9,659,092 (GRCm39)	Q864K	probably damaging	Het
Fbxo3	A	G	2: 103,881,510 (GRCm39)	T281A	probably damaging	Het
Gm5148	T	A	3: 37,768,758 (GRCm39)	H154L	unknown	Het
Gsdma2	T	A	11: 98,542,758 (GRCm39)		probably null	Het
Hfm1	T	C	5: 107,052,663 (GRCm39)	I273M	possibly damaging	Het
Hspa4l	A	G	3: 40,700,435 (GRCm39)	E14G	probably benign	Het
Inava	G	T	1: 136,142,088 (GRCm39)	N670K	probably benign	Het
Lgals12	T	G	19: 7,584,081 (GRCm39)	E5D	possibly damaging	Het
Lsg1	T	G	16: 30,392,061 (GRCm39)	I237L	probably benign	Het
Mettl14	T	C	3: 123,177,254 (GRCm39)	E49G	probably damaging	Het
Nbeal1	A	G	1: 60,370,107 (GRCm39)	I2675V	probably benign	Het
Or2y1e	A	T	11: 49,218,304 (GRCm39)	Q22L	probably benign	Het
Or4b1b	A	T	2: 90,112,406 (GRCm39)	V171E	probably damaging	Het
Or5k15	T	G	16: 58,710,143 (GRCm39)	S147R	probably benign	Het
Padi1	A	T	4: 140,542,089 (GRCm39)	L611Q	probably damaging	Het
Pcdhac2	A	G	18: 37,277,764 (GRCm39)	D248G	probably damaging	Het
Plekhm1	C	A	11: 103,261,760 (GRCm39)	R940L	probably damaging	Het
Rasa3	A	G	8: 13,664,532 (GRCm39)		probably null	Het
Rspo2	C	A	15: 42,939,307 (GRCm39)	R161L	probably benign	Het
Sacs	A	G	14: 61,443,786 (GRCm39)	Y1944C	probably damaging	Het
Slc7a10	G	T	7: 34,898,140 (GRCm39)	M297I	probably damaging	Het
Spata31e3	A	C	13: 50,404,141 (GRCm39)	S54A	probably benign	Het
Ssh2	A	G	11: 77,299,009 (GRCm39)	T112A	possibly damaging	Het
Ttc7	A	T	17: 87,628,829 (GRCm39)		probably null	Het
Vmn1r64	T	A	7: 5,886,895 (GRCm39)	H216L	probably benign	Het
Vmn2r112	A	G	17: 22,837,393 (GRCm39)	K618R	probably damaging	Het
Vmp1	T	A	11: 86,552,014 (GRCm39)	I117L	probably benign	Het
Vsnl1	A	T	12: 11,382,056 (GRCm39)	Y108*	probably null	Het
Wdr31	A	G	4: 62,375,675 (GRCm39)		probably null	Het
Zfp329	A	G	7: 12,541,840 (GRCm39)	V284A	probably benign	Het

Other mutations in Zfp551

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01470:Zfp551	APN	7	12,152,468 (GRCm39)	critical splice donor site	probably null
IGL01990:Zfp551	APN	7	12,156,343 (GRCm39)	missense	possibly damaging	0.90
IGL02511:Zfp551	APN	7	12,150,602 (GRCm39)	missense	possibly damaging	0.70
R2001:Zfp551	UTSW	7	12,150,276 (GRCm39)	missense	probably damaging	1.00
R3120:Zfp551	UTSW	7	12,149,943 (GRCm39)	missense	possibly damaging	0.94
R4387:Zfp551	UTSW	7	12,152,568 (GRCm39)	missense	probably damaging	1.00
R5314:Zfp551	UTSW	7	12,150,087 (GRCm39)	nonsense	probably null
R5536:Zfp551	UTSW	7	12,149,488 (GRCm39)	missense	possibly damaging	0.86
R5874:Zfp551	UTSW	7	12,150,101 (GRCm39)	missense	probably damaging	1.00
R6265:Zfp551	UTSW	7	12,149,339 (GRCm39)	missense	probably damaging	1.00
R6765:Zfp551	UTSW	7	12,150,767 (GRCm39)	missense	possibly damaging	0.85
R6803:Zfp551	UTSW	7	12,151,108 (GRCm39)	nonsense	probably null
R6953:Zfp551	UTSW	7	12,150,715 (GRCm39)	nonsense	probably null
R7334:Zfp551	UTSW	7	12,150,681 (GRCm39)	missense	probably damaging	0.97
R7345:Zfp551	UTSW	7	12,150,522 (GRCm39)	missense	probably benign
R7502:Zfp551	UTSW	7	12,149,725 (GRCm39)	nonsense	probably null
R7772:Zfp551	UTSW	7	12,152,535 (GRCm39)	missense	probably damaging	0.98
R7776:Zfp551	UTSW	7	12,152,569 (GRCm39)	missense	probably damaging	1.00
R7999:Zfp551	UTSW	7	12,151,138 (GRCm39)	nonsense	probably null
R8032:Zfp551	UTSW	7	12,152,487 (GRCm39)	missense	possibly damaging	0.82
R8984:Zfp551	UTSW	7	12,156,559 (GRCm39)	unclassified	probably benign
R9082:Zfp551	UTSW	7	12,151,004 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTATGGCCTTTCTCCAGTATG -3'
(R):5'- GCCTTCTCCTGCAGTTACAAGC -3'

Sequencing Primer
(F):5'- GGCCTTTCTCCAGTATGAATTCGG -3'
(R):5'- TGCAGTTACAAGCATGCTCAG -3'

Posted On

2015-06-20