Mutagenetix > Incidental Mutation

Incidental Mutation 'R6953:Zfp551'

541309

Institutional Source

Beutler Lab

Gene Symbol

Zfp551

Ensembl Gene

ENSMUSG00000034071

Gene Name

zinc finger protein 551

Synonyms

9630004E07Rik

MMRRC Submission

045065-MU

Accession Numbers

Essential gene?

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

Stock #

R6953 (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 12150715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 231 (C231*)

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: C231*

SMART Domains

Protein: ENSMUSP00000079222
Gene: ENSMUSG00000034071
AA Change: C231*

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: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	A	15: 57,892,223 (GRCm39)	S128I	probably damaging	Het
Aadacl2	A	C	3: 59,932,181 (GRCm39)	H232P	possibly damaging	Het
Abcc3	A	G	11: 94,265,661 (GRCm39)	Y125H	probably benign	Het
Adgrb3	A	G	1: 25,865,592 (GRCm39)	S84P	probably damaging	Het
Adgrd1	A	T	5: 129,192,142 (GRCm39)	K71*	probably null	Het
Ap2m1	T	A	16: 20,361,468 (GRCm39)	W381R	probably damaging	Het
Ascc3	A	G	10: 50,521,762 (GRCm39)	I426V	probably benign	Het
BC024063	T	A	10: 81,943,733 (GRCm39)	D31E	possibly damaging	Het
C3ar1	G	A	6: 122,827,591 (GRCm39)	H209Y	possibly damaging	Het
Ccp110	T	C	7: 118,321,644 (GRCm39)	V433A	possibly damaging	Het
Cfap54	A	G	10: 92,830,540 (GRCm39)	S1199P	probably benign	Het
Cyp24a1	T	G	2: 170,329,866 (GRCm39)	D362A	probably benign	Het
Dapk2	C	G	9: 66,161,904 (GRCm39)	R271G	probably benign	Het
Dnmt1	G	T	9: 20,829,822 (GRCm39)	Q633K	probably benign	Het
Ercc4	T	A	16: 12,948,550 (GRCm39)	V499D	probably damaging	Het
Ier3ip1	C	G	18: 77,027,309 (GRCm39)	P46R	probably damaging	Het
Ifi211	T	C	1: 173,733,832 (GRCm39)	T110A	probably damaging	Het
Isoc1	A	G	18: 58,804,374 (GRCm39)	D134G	possibly damaging	Het
Kif26b	A	G	1: 178,701,637 (GRCm39)	D672G	possibly damaging	Het
Klhl33	T	A	14: 51,128,973 (GRCm39)	D752V	possibly damaging	Het
Lcn4	A	G	2: 26,559,367 (GRCm39)	Y133H	probably benign	Het
Mrs2	C	A	13: 25,185,771 (GRCm39)	V134L	probably benign	Het
Muc16	T	C	9: 18,551,825 (GRCm39)	T4823A	probably benign	Het
Ogfod3	A	G	11: 121,093,824 (GRCm39)	I62T	probably benign	Het
Or2m13	C	T	16: 19,226,278 (GRCm39)	V164I	probably benign	Het
Or2y10	A	G	11: 49,455,117 (GRCm39)	Y123C	probably damaging	Het
Or6c204	A	T	10: 129,022,474 (GRCm39)	M272K	probably benign	Het
Or7e175	A	T	9: 20,049,299 (GRCm39)	I296L	probably benign	Het
Papln	G	A	12: 83,828,659 (GRCm39)	W788*	probably null	Het
Pcdhac2	A	G	18: 37,277,479 (GRCm39)	Q153R	probably benign	Het
Pcdhgb2	C	T	18: 37,823,807 (GRCm39)	T266I	possibly damaging	Het
Pcdhgc5	C	A	18: 37,953,514 (GRCm39)	R263S	possibly damaging	Het
Phactr4	T	C	4: 132,104,662 (GRCm39)	T185A	possibly damaging	Het
Plcxd2	T	C	16: 45,800,882 (GRCm39)	D114G	probably damaging	Het
Polr2a	A	T	11: 69,632,537 (GRCm39)	I987N	probably damaging	Het
Prl3d3	A	G	13: 27,345,029 (GRCm39)	M134V	probably benign	Het
Pum2	T	A	12: 8,778,779 (GRCm39)		probably null	Het
Racgap1	T	C	15: 99,524,210 (GRCm39)	E399G	probably damaging	Het
Sbspon	A	T	1: 15,930,519 (GRCm39)	S156T	probably damaging	Het
Scn1a	T	C	2: 66,149,813 (GRCm39)	T927A	probably damaging	Het
Sec23ip	C	A	7: 128,354,520 (GRCm39)	S78*	probably null	Het
Serpina1d	G	A	12: 103,733,989 (GRCm39)	T105I	probably benign	Het
Slc25a21	T	A	12: 57,205,954 (GRCm39)	N26Y	probably benign	Het
Smim20	T	A	5: 53,435,258 (GRCm39)	D64E	probably damaging	Het
Spag17	T	G	3: 99,942,291 (GRCm39)	I772S	possibly damaging	Het
Tars2	T	C	3: 95,660,426 (GRCm39)	T99A	possibly damaging	Het
Tdrd1	C	T	19: 56,819,803 (GRCm39)	T101I	probably damaging	Het
Tldc2	T	G	2: 156,931,198 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,601,929 (GRCm39)	Y10251H	probably damaging	Het
Ush2a	A	G	1: 187,995,342 (GRCm39)	R38G	possibly damaging	Het
Usp19	T	C	9: 108,376,130 (GRCm39)	L991P	possibly damaging	Het
Vmn2r109	G	A	17: 20,760,973 (GRCm39)	P795S	possibly damaging	Het
Vmn2r26	T	C	6: 124,016,741 (GRCm39)	Y402H	probably benign	Het
Vmn2r-ps117	T	G	17: 19,045,095 (GRCm39)	I504R	probably benign	Het
Zfp607a	T	A	7: 27,577,790 (GRCm39)	C287S	possibly damaging	Het
Zim1	T	A	7: 6,690,706 (GRCm39)	T40S	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
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
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'- TTTCCCGAGTGACTGTCCTG -3'
(R):5'- GAAAGGGATTCTCACAGGGC -3'

Sequencing Primer
(F):5'- CTGAGCATGCTTGTAACTGCAG -3'
(R):5'- GATTCTCACAGGGCTACAGCTATG -3'

Posted On

2018-11-28