Mutagenetix > Incidental Mutation

Incidental Mutation 'R3120:Zfp551'

263170

Institutional Source

Beutler Lab

Gene Symbol

Zfp551

Ensembl Gene

ENSMUSG00000034071

Gene Name

zinc finger protein 551

Synonyms

9630004E07Rik

MMRRC Submission

040593-MU

Accession Numbers

Essential gene?

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

Stock #

R3120 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12149080-12156678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12149943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 489 (F489L)

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: F489L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079222
Gene: ENSMUSG00000034071
AA Change: F489L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bsx	A	G	9: 40,788,908 (GRCm39)	K155R	possibly damaging	Het
Ccdc39	T	C	3: 33,891,987 (GRCm39)	K162E	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Dnah1	G	A	14: 30,988,779 (GRCm39)	R3351*	probably null	Het
Eml1	A	G	12: 108,479,312 (GRCm39)	R362G	probably benign	Het
Fam222b	T	C	11: 78,044,742 (GRCm39)	L101P	probably damaging	Het
Fars2	A	G	13: 36,430,400 (GRCm39)	E276G	probably damaging	Het
Gatad1	G	T	5: 3,691,456 (GRCm39)	Y33*	probably null	Het
Gclc	A	C	9: 77,688,552 (GRCm39)	E219A	possibly damaging	Het
Gm4846	A	G	1: 166,319,117 (GRCm39)	V207A	probably benign	Het
H1f5	A	T	13: 21,964,215 (GRCm39)	S170R	probably benign	Het
Hbq1a	T	C	11: 32,250,472 (GRCm39)	L87P	probably damaging	Het
Magea6	A	T	X: 153,707,291 (GRCm39)	I255N	probably benign	Het
Mfsd12	T	G	10: 81,197,049 (GRCm39)	V206G	probably benign	Het
Mis18bp1	T	C	12: 65,203,762 (GRCm39)		probably null	Het
Nf1	C	A	11: 79,455,725 (GRCm39)	T550K	probably damaging	Het
Nlrp4f	T	C	13: 65,342,530 (GRCm39)	T372A	probably benign	Het
Or5p70	T	C	7: 107,994,930 (GRCm39)	I201T	possibly damaging	Het
Pkdcc	T	C	17: 83,527,466 (GRCm39)	Y215H	probably damaging	Het
Plekha5	A	G	6: 140,537,367 (GRCm39)	T253A	probably benign	Het
Polr2f	T	A	15: 79,028,788 (GRCm39)		probably null	Het
Prph2	C	T	17: 47,234,298 (GRCm39)	A289V	possibly damaging	Het
Ptdss2	C	T	7: 140,732,132 (GRCm39)	H140Y	probably damaging	Het
Rlf	T	A	4: 121,006,680 (GRCm39)	I877L	probably benign	Het
Scgb2b2	T	C	7: 31,003,001 (GRCm39)	L32S	possibly damaging	Het
Sfpq	T	A	4: 126,915,926 (GRCm39)	H239Q	unknown	Het
St6gal2	A	T	17: 55,789,111 (GRCm39)	R48S	probably benign	Het
Sybu	T	C	15: 44,536,355 (GRCm39)	D657G	possibly damaging	Het
Syt15	A	G	14: 33,944,950 (GRCm39)	I166V	probably benign	Het
Taar7f	C	A	10: 23,925,478 (GRCm39)	T24K	probably benign	Het
Tbcd	T	C	11: 121,499,474 (GRCm39)	S1093P	probably damaging	Het
Tfap2c	G	A	2: 172,399,015 (GRCm39)	V396M	possibly damaging	Het
Tnxb	C	T	17: 34,911,329 (GRCm39)	T1544I	possibly damaging	Het
Trim28	A	G	7: 12,762,341 (GRCm39)	T322A	probably damaging	Het
Tubgcp3	G	A	8: 12,707,626 (GRCm39)	A121V	possibly damaging	Het
Vmn2r14	A	T	5: 109,372,431 (GRCm39)	W20R	probably null	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
R4256:Zfp551	UTSW	7	12,150,318 (GRCm39)	missense	possibly damaging	0.95
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'- ATGAACCCTTCGGTGCTGA -3'
(R):5'- TTCACGTACAAATCCAACCTCACTG -3'

Sequencing Primer
(F):5'- TGAATCAGGCTAGCACTCTG -3'
(R):5'- CCTTACCAGTGTGAACAATGTGG -3'

Posted On

2015-02-05