Mutagenetix > Incidental Mutation

Incidental Mutation 'R7772:Zfp551'

598641

Institutional Source

Beutler Lab

Gene Symbol

Zfp551

Ensembl Gene

ENSMUSG00000034071

Gene Name

zinc finger protein 551

Synonyms

9630004E07Rik

MMRRC Submission

045828-MU

Accession Numbers

Essential gene?

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

Stock #

R7772 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12149080-12156678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12152535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 66 (D66G)

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: D66G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079222
Gene: ENSMUSG00000034071
AA Change: D66G

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	A	11: 3,839,784 (GRCm39)		probably null	Het
Adora3	T	C	3: 105,815,039 (GRCm39)	V263A	probably benign	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Arfgef1	A	G	1: 10,227,235 (GRCm39)	V1368A	possibly damaging	Het
Arid4a	A	T	12: 71,108,363 (GRCm39)	N56I	possibly damaging	Het
Art3	A	T	5: 92,551,472 (GRCm39)	Y277F	probably damaging	Het
Atp2a1	A	T	7: 126,047,707 (GRCm39)		probably null	Het
Banf1	T	C	19: 5,415,150 (GRCm39)	K54E	possibly damaging	Het
Bckdk	A	G	7: 127,505,073 (GRCm39)	Y151C	probably damaging	Het
C1qtnf3	C	A	15: 10,958,130 (GRCm39)	P58T	possibly damaging	Het
Cadps2	T	C	6: 23,390,445 (GRCm39)	R744G	probably benign	Het
Cdc25b	A	G	2: 131,031,029 (GRCm39)	D118G	probably damaging	Het
Cnot9	G	A	1: 74,566,151 (GRCm39)	V181I	probably damaging	Het
Cobl	C	T	11: 12,204,488 (GRCm39)	G738D	probably benign	Het
Col18a1	T	A	10: 76,904,220 (GRCm39)		probably null	Het
Crnkl1	A	G	2: 145,772,564 (GRCm39)	V171A	probably benign	Het
Dhx57	C	T	17: 80,580,507 (GRCm39)	D482N	possibly damaging	Het
Dpysl2	A	T	14: 67,066,425 (GRCm39)		probably null	Het
Drd3	G	T	16: 43,582,758 (GRCm39)	A52S	probably benign	Het
Dst	T	C	1: 34,220,469 (GRCm39)	V2091A	possibly damaging	Het
Evpl	T	C	11: 116,112,261 (GRCm39)	T1810A	probably benign	Het
Fbxo2	T	A	4: 148,248,783 (GRCm39)	W92R	probably damaging	Het
Gas2l2	T	A	11: 83,320,103 (GRCm39)	D51V	possibly damaging	Het
Gm11232	A	T	4: 71,674,818 (GRCm39)	V228E	possibly damaging	Het
Gm14305	C	T	2: 176,412,764 (GRCm39)	Q219*	probably null	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr39	G	T	1: 125,605,334 (GRCm39)	M87I	possibly damaging	Het
Heatr1	T	C	13: 12,432,522 (GRCm39)	M1089T	probably benign	Het
Ifi206	A	T	1: 173,308,640 (GRCm39)	M452K		Het
Ints8	A	T	4: 11,227,190 (GRCm39)	I561N	probably damaging	Het
Itgb2	A	T	10: 77,396,946 (GRCm39)	K660N	probably benign	Het
Jun	A	C	4: 94,939,081 (GRCm39)	V143G	probably benign	Het
Kalrn	A	G	16: 33,851,952 (GRCm39)	M2076T	probably benign	Het
Krt10	G	T	11: 99,279,913 (GRCm39)	S82R	unknown	Het
Lipm	T	A	19: 34,095,291 (GRCm39)	H295Q	probably damaging	Het
Mybpc2	A	C	7: 44,165,348 (GRCm39)		probably null	Het
Nedd4	T	C	9: 72,584,608 (GRCm39)	V103A	possibly damaging	Het
Nol10	T	C	12: 17,398,586 (GRCm39)	I11T	probably damaging	Het
Nup210l	A	G	3: 90,067,233 (GRCm39)	S758G	probably damaging	Het
Or13d1	T	A	4: 52,970,713 (GRCm39)	C31S	probably damaging	Het
Or52r1c	T	G	7: 102,735,388 (GRCm39)	I216S	probably benign	Het
Or8d4	T	C	9: 40,038,661 (GRCm39)	I199V	probably benign	Het
Osbpl9	T	C	4: 108,923,384 (GRCm39)	H425R	probably damaging	Het
Parp1	G	T	1: 180,416,963 (GRCm39)	R582S	possibly damaging	Het
Piwil1	A	T	5: 128,816,527 (GRCm39)	R36S	probably benign	Het
Pjvk	T	C	2: 76,487,877 (GRCm39)		probably null	Het
Plekha6	G	T	1: 133,097,760 (GRCm39)	E31D	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Psmc6	T	A	14: 45,581,107 (GRCm39)	I301N	probably damaging	Het
Rfpl4	C	A	7: 5,118,543 (GRCm39)	S9I	probably benign	Het
Rnf14	G	T	18: 38,442,629 (GRCm39)	C310F	probably damaging	Het
Rnf17	T	A	14: 56,715,144 (GRCm39)	F845L	probably benign	Het
Robo2	T	C	16: 73,758,777 (GRCm39)	I665V	probably benign	Het
Rtl1	T	A	12: 109,559,619 (GRCm39)	H740L	probably damaging	Het
Ryr2	A	G	13: 11,765,897 (GRCm39)	S1280P	probably benign	Het
Slc12a8	G	A	16: 33,371,335 (GRCm39)	R126H	probably damaging	Het
Slc9a1	T	C	4: 133,139,276 (GRCm39)	F165L	probably damaging	Het
Snx19	T	C	9: 30,340,221 (GRCm39)	I453T	probably damaging	Het
Spag17	T	C	3: 99,987,434 (GRCm39)	Y1575H	probably damaging	Het
Spef2	T	C	15: 9,704,567 (GRCm39)	I415M	probably damaging	Het
Ssx2ip	T	G	3: 146,138,885 (GRCm39)	I459S	probably damaging	Het
Stfa1	A	G	16: 36,097,363 (GRCm39)		probably null	Het
Tmem156	A	T	5: 65,237,517 (GRCm39)	S48T	probably damaging	Het
Tmx3	T	A	18: 90,545,918 (GRCm39)		probably null	Het
Unc93a	A	T	17: 13,328,639 (GRCm39)	F405I	possibly damaging	Het
Vmn1r209	T	A	13: 22,990,664 (GRCm39)	I9F	possibly damaging	Het
Vmn2r93	A	G	17: 18,533,482 (GRCm39)	D462G	probably damaging	Het
Wdr90	T	A	17: 26,080,465 (GRCm39)		probably benign	Het
Znrf4	A	C	17: 56,819,247 (GRCm39)	V20G	possibly damaging	Het
Zscan4d	T	C	7: 10,896,770 (GRCm39)	E200G	probably benign	Het
Zup1	A	T	10: 33,797,698 (GRCm39)		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
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
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
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'- CCAAGGCATAGGACACAGTAG -3'
(R):5'- CAATCAGTAGATGAGCGTCTCCTTTG -3'

Posted On

2019-11-26