Mutagenetix > Incidental Mutation

Incidental Mutation 'R5536:Zfp551'

434823

Institutional Source

Beutler Lab

Gene Symbol

Zfp551

Ensembl Gene

ENSMUSG00000034071

Gene Name

zinc finger protein 551

Synonyms

9630004E07Rik

MMRRC Submission

043094-MU

Accession Numbers

Essential gene?

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

Stock #

R5536 (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 12149488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 640 (S640R)

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: S640R

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000079222
Gene: ENSMUSG00000034071
AA Change: S640R

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 137,772,149 (GRCm39)	G446V	possibly damaging	Het
Aadac	T	G	3: 59,946,984 (GRCm39)	N227K	probably benign	Het
Acap1	C	T	11: 69,780,133 (GRCm39)	G74R	probably benign	Het
Adrm1	A	G	2: 179,813,981 (GRCm39)		probably benign	Het
Appl1	G	C	14: 26,645,737 (GRCm39)	S691*	probably null	Het
Atp2a2	T	C	5: 122,595,245 (GRCm39)	D1035G	probably benign	Het
AW551984	A	G	9: 39,504,169 (GRCm39)	I599T	probably benign	Het
Col23a1	C	A	11: 51,458,776 (GRCm39)	D304E	probably damaging	Het
Csmd1	T	C	8: 16,338,674 (GRCm39)	R478G	probably damaging	Het
Dnah7a	T	C	1: 53,464,412 (GRCm39)	N3660D	probably benign	Het
Drosha	T	A	15: 12,929,797 (GRCm39)	Y1331N	possibly damaging	Het
E2f6	T	G	12: 16,874,685 (GRCm39)	S256A	probably benign	Het
Evc	A	G	5: 37,483,927 (GRCm39)		probably benign	Het
Fsip2	A	T	2: 82,817,403 (GRCm39)	I4379F	probably benign	Het
Galnt2	T	C	8: 125,050,412 (GRCm39)	C91R	probably damaging	Het
Gm3095	G	T	14: 15,170,371 (GRCm39)	M73I	probably benign	Het
Gpr179	T	A	11: 97,234,641 (GRCm39)	Q480L	probably damaging	Het
Gucy2g	T	A	19: 55,226,359 (GRCm39)	I186F	probably benign	Het
Hmcn1	T	A	1: 150,631,042 (GRCm39)	I919F	probably benign	Het
Kdm3a	A	C	6: 71,588,920 (GRCm39)	V363G	probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Lama5	C	T	2: 179,831,142 (GRCm39)	R1839H	probably damaging	Het
Lpo	T	C	11: 87,707,389 (GRCm39)	D208G	probably damaging	Het
Lpp	A	G	16: 24,663,956 (GRCm39)	D411G	possibly damaging	Het
Marco	T	C	1: 120,432,464 (GRCm39)	S8G	possibly damaging	Het
Mthfr	T	C	4: 148,128,940 (GRCm39)	F171S	probably damaging	Het
Nlrx1	A	T	9: 44,175,183 (GRCm39)	S198T	probably damaging	Het
Nol10	C	A	12: 17,466,138 (GRCm39)	S511*	probably null	Het
Nup153	T	C	13: 46,836,485 (GRCm39)	T1375A	probably benign	Het
Obscn	A	G	11: 58,998,697 (GRCm39)	S1367P	probably damaging	Het
Or4x6	A	G	2: 89,949,183 (GRCm39)	V253A	probably benign	Het
Pcdha7	G	A	18: 37,108,303 (GRCm39)	V443M	probably damaging	Het
Plekha1	G	T	7: 130,511,331 (GRCm39)	R305I	probably damaging	Het
Psmb2	T	A	4: 126,578,002 (GRCm39)	I60N	probably damaging	Het
Rad17	C	A	13: 100,767,612 (GRCm39)	G330C	probably damaging	Het
Slc5a6	A	G	5: 31,200,446 (GRCm39)	S80P	probably damaging	Het
Srgap2	T	A	1: 131,228,128 (GRCm39)		probably null	Het
Taf8	C	A	17: 47,805,407 (GRCm39)	R164L	possibly damaging	Het
Tmem87a	C	A	2: 120,227,911 (GRCm39)	D79Y	probably damaging	Het
Tmtc4	G	A	14: 123,170,291 (GRCm39)	R574W	probably benign	Het
Tprn	G	A	2: 25,153,369 (GRCm39)	A224T	probably benign	Het
Usf3	A	G	16: 44,037,733 (GRCm39)	T738A	probably benign	Het
Vmn2r54	A	C	7: 12,366,343 (GRCm39)	V197G	probably benign	Het
Zbtb40	G	T	4: 136,714,642 (GRCm39)	P1049Q	probably damaging	Het
Zfp932	T	A	5: 110,157,713 (GRCm39)	C470*	probably null	Het
Zkscan8	T	C	13: 21,710,838 (GRCm39)	I91V	probably damaging	Het
Zmat4	T	C	8: 24,238,508 (GRCm39)	V30A	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
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'- CTTAGGTGTGAACTCGCTGGTG -3'
(R):5'- TCCTTCACGTACAAATCCAACCT -3'

Sequencing Primer
(F):5'- TGTCGGACAAGATTCGATCGAC -3'
(R):5'- GAAGTCATTCAGGCAATGCTCTAGC -3'

Posted On

2016-10-24