Mutagenetix > Incidental Mutation

Incidental Mutation 'R4387:Zfp551'

326264

Institutional Source

Beutler Lab

Gene Symbol

Zfp551

Ensembl Gene

ENSMUSG00000034071

Gene Name

zinc finger protein 551

Synonyms

9630004E07Rik

MMRRC Submission

041681-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R4387 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12149080-12156678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12152568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 55 (I55N)

Ref Sequence

ENSEMBL: ENSMUSP00000079222 (fasta)

Gene Model

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

AlphaFold

B2RUI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000080348
AA Change: I55N

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

SMART Domains

Protein: ENSMUSP00000079222
Gene: ENSMUSG00000034071
AA Change: I55N

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: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,464,693 (GRCm39)		probably null	Het
Adprm	C	T	11: 66,929,019 (GRCm39)	R324K	probably benign	Het
Brd10	A	G	19: 29,782,715 (GRCm39)		probably benign	Het
Calcr	T	A	6: 3,707,581 (GRCm39)	N240Y	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cd209b	A	G	8: 3,975,960 (GRCm39)	L67P	probably damaging	Het
Cp	T	C	3: 20,031,366 (GRCm39)	V601A	probably damaging	Het
Cyp2a5	A	G	7: 26,540,479 (GRCm39)	D364G	probably damaging	Het
Eno4	T	A	19: 58,941,640 (GRCm39)	V187D	probably benign	Het
Fbxl7	C	A	15: 26,543,345 (GRCm39)	S434I	probably damaging	Het
Fbxw24	A	T	9: 109,439,053 (GRCm39)	L174Q	probably damaging	Het
Fryl	T	A	5: 73,243,903 (GRCm39)	R91S	possibly damaging	Het
Gabrd	A	G	4: 155,473,389 (GRCm39)		probably null	Het
Gtpbp2	A	G	17: 46,477,284 (GRCm39)	D383G	probably benign	Het
Igf1r	A	G	7: 67,819,757 (GRCm39)	I356V	probably benign	Het
Kcnc1	C	A	7: 46,047,126 (GRCm39)	R9S	possibly damaging	Het
Lipi	T	A	16: 75,370,843 (GRCm39)	I125F	probably damaging	Het
Meig1	T	C	2: 3,410,278 (GRCm39)	E74G	probably damaging	Het
Mgat4d	A	T	8: 84,098,335 (GRCm39)	Q366L	probably damaging	Het
Mrpl1	A	G	5: 96,386,778 (GRCm39)	N256D	possibly damaging	Het
Nlrp4e	A	G	7: 23,000,902 (GRCm39)	K66E	probably benign	Het
Nlrp4e	A	G	7: 23,020,652 (GRCm39)	I380V	probably benign	Het
Nphp3	A	G	9: 103,907,219 (GRCm39)	T740A	possibly damaging	Het
Or5an1c	A	G	19: 12,218,503 (GRCm39)	V174A	probably damaging	Het
Or8k33	T	C	2: 86,384,298 (GRCm39)	T57A	probably damaging	Het
Or8k40	T	A	2: 86,584,464 (GRCm39)	D206V	probably benign	Het
Pde5a	T	C	3: 122,523,001 (GRCm39)	I36T	probably benign	Het
Pign	A	T	1: 105,449,785 (GRCm39)	L914M	possibly damaging	Het
Ppm1b	A	G	17: 85,322,847 (GRCm39)	D382G	probably benign	Het
Psd3	T	C	8: 68,453,413 (GRCm39)	Y282C	probably damaging	Het
Ptprt	A	T	2: 161,769,570 (GRCm39)	Y432N	probably damaging	Het
Rbbp6	T	C	7: 122,596,534 (GRCm39)		probably null	Het
Recql4	A	G	15: 76,590,158 (GRCm39)	S659P	probably benign	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Shoc1	A	T	4: 59,060,915 (GRCm39)	C953S	possibly damaging	Het
Slit3	T	C	11: 35,574,875 (GRCm39)	V1063A	probably benign	Het
Spdye4a	A	G	5: 143,211,378 (GRCm39)	V62A	probably benign	Het
Ttc6	G	A	12: 57,689,836 (GRCm39)	G509S	probably benign	Het
Ush2a	C	T	1: 188,175,628 (GRCm39)	T1242M	probably benign	Het
Wwc2	T	C	8: 48,284,681 (GRCm39)	S1155G	unknown	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
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'- TGACAACTACAGGAACTAGGC -3'
(R):5'- GGCAATCAGTAGATGAGCGTC -3'

Sequencing Primer
(F):5'- AGACTTGTTATGACTCCTAAGATAGC -3'
(R):5'- CAATCAGTAGATGAGCGTCTCCTTTG -3'

Posted On

2015-07-06