Mutagenetix > Incidental Mutation

Incidental Mutation 'R6803:Zfp551'

533437

Institutional Source

Beutler Lab

Gene Symbol

Zfp551

Ensembl Gene

ENSMUSG00000034071

Gene Name

zinc finger protein 551

Synonyms

9630004E07Rik

MMRRC Submission

044916-MU

Accession Numbers

Essential gene?

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

Stock #

R6803 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12149080-12156678 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 12151108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 100 (C100*)

Ref Sequence

ENSEMBL: ENSMUSP00000079222 (fasta)

Gene Model

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

AlphaFold

B2RUI1

Predicted Effect

probably null
Transcript: ENSMUST00000080348
AA Change: C100*

SMART Domains

Protein: ENSMUSP00000079222
Gene: ENSMUSG00000034071
AA Change: C100*

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

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 94.7%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg9	A	C	9: 50,700,860 (GRCm39)	D210A	probably benign	Het
As3mt	T	G	19: 46,698,020 (GRCm39)	M120R	probably benign	Het
Baz1a	T	A	12: 54,988,340 (GRCm39)	S270C	probably null	Het
Car5a	A	C	8: 122,650,504 (GRCm39)		probably null	Het
Ccdc187	T	A	2: 26,179,791 (GRCm39)	T223S	probably benign	Het
Cel	T	C	2: 28,448,060 (GRCm39)	N322S	probably benign	Het
Chd6	T	C	2: 160,802,279 (GRCm39)	E2185G	possibly damaging	Het
Clcnkb	T	C	4: 141,132,639 (GRCm39)	T597A	probably benign	Het
Cntnap1	A	G	11: 101,068,060 (GRCm39)	Y24C	possibly damaging	Het
Cog3	A	G	14: 75,941,479 (GRCm39)	S817P	probably benign	Het
Col8a2	A	G	4: 126,205,793 (GRCm39)	Y601C	probably damaging	Het
Cpm	G	T	10: 117,512,002 (GRCm39)		probably null	Het
Cpt2	T	C	4: 107,769,861 (GRCm39)	N79S	probably damaging	Het
Dnah17	T	C	11: 118,016,198 (GRCm39)	T314A	probably benign	Het
Dnm1	C	A	2: 32,202,766 (GRCm39)	V46F	probably damaging	Het
Fat3	C	T	9: 15,908,083 (GRCm39)	V2640M	probably damaging	Het
Fbxl2	A	T	9: 113,813,617 (GRCm39)	C296S	probably damaging	Het
Fcgbp	A	G	7: 27,802,637 (GRCm39)	T1522A	probably benign	Het
Foxl2	A	C	9: 98,837,985 (GRCm39)	K91T	probably damaging	Het
Hdac11	G	T	6: 91,143,247 (GRCm39)	R131L	probably damaging	Het
Ipo11	T	C	13: 106,993,766 (GRCm39)	I723V	probably benign	Het
Klhl33	A	G	14: 51,134,192 (GRCm39)	L150P	probably damaging	Het
Klk1b11	A	G	7: 43,647,261 (GRCm39)	H65R	probably damaging	Het
Larp7	T	C	3: 127,330,685 (GRCm39)		probably null	Het
Ldlrad3	T	C	2: 101,943,892 (GRCm39)	D60G	possibly damaging	Het
Mlip	A	T	9: 77,097,663 (GRCm39)	H177Q	probably damaging	Het
Mrnip	A	G	11: 50,090,730 (GRCm39)	D298G	probably benign	Het
Npas2	A	C	1: 39,375,130 (GRCm39)	S483R	probably benign	Het
Nrg3	C	A	14: 38,733,957 (GRCm39)	E310*	probably null	Het
Omg	T	A	11: 79,393,094 (GRCm39)	T255S	possibly damaging	Het
Or2y12	T	A	11: 49,426,432 (GRCm39)	L140H	probably damaging	Het
Or56b1b	G	T	7: 108,164,620 (GRCm39)	D127E	probably damaging	Het
Plekhg6	T	C	6: 125,340,626 (GRCm39)	D578G	probably damaging	Het
Pygo1	A	G	9: 72,850,267 (GRCm39)	K39E	probably damaging	Het
Rell2	A	G	18: 38,089,994 (GRCm39)	D66G	probably damaging	Het
Samd9l	A	T	6: 3,375,446 (GRCm39)	I605K	probably damaging	Het
Sema6d	T	C	2: 124,505,970 (GRCm39)	S593P	probably damaging	Het
Sf3b3	A	G	8: 111,552,210 (GRCm39)	V545A	probably benign	Het
Speer4f1	T	A	5: 17,684,388 (GRCm39)		probably null	Het
Spem1	T	C	11: 69,711,974 (GRCm39)	E230G	possibly damaging	Het
Sphkap	A	G	1: 83,258,231 (GRCm39)	F171L	probably damaging	Het
Tbc1d13	T	C	2: 30,025,522 (GRCm39)		probably benign	Het
Tmem222	A	T	4: 132,994,154 (GRCm39)	N206K	probably benign	Het
Trnau1ap	C	T	4: 132,049,081 (GRCm39)	V41M	probably damaging	Het
Ttn	C	T	2: 76,769,387 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,766,368 (GRCm39)		probably null	Het
Uox	T	G	3: 146,318,264 (GRCm39)	V55G	possibly damaging	Het
Vmn2r24	A	T	6: 123,755,960 (GRCm39)	I11F	possibly damaging	Het
Wasf2	T	C	4: 132,922,220 (GRCm39)		probably null	Het
Wdr97	A	G	15: 76,240,776 (GRCm39)	Y488C	probably damaging	Het
Zbtb4	T	C	11: 69,669,454 (GRCm39)	S726P	possibly damaging	Het
Zfp534	C	T	4: 147,758,926 (GRCm39)	C581Y	probably damaging	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
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
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'- TCTTCCTTCAAACCGGAACC -3'
(R):5'- GAACATTCCAGTGCTTTCATTGC -3'

Sequencing Primer
(F):5'- TCAAACCGGAACCTGTTCTG -3'
(R):5'- ACAATCCCTTGTCTATGTAGCACAGG -3'

Posted On

2018-09-12