Mutagenetix > Incidental Mutation

Incidental Mutation 'R6265:Zfp551'

506944

Institutional Source

Beutler Lab

Gene Symbol

Zfp551

Ensembl Gene

ENSMUSG00000034071

Gene Name

zinc finger protein 551

Synonyms

9630004E07Rik

MMRRC Submission

044438-MU

Accession Numbers

Essential gene?

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

Stock #

R6265 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12149080-12156678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12149339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 690 (R690Q)

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: R690Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000079222
Gene: ENSMUSG00000034071
AA Change: R690Q

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

0.1324

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	C	T	4: 137,181,986 (GRCm39)	P47L	probably damaging	Het
Acot1	T	C	12: 84,063,687 (GRCm39)	I265T	probably benign	Het
Amotl1	T	C	9: 14,482,951 (GRCm39)	D587G	possibly damaging	Het
Anks1b	T	G	10: 90,777,362 (GRCm39)	D1117E	probably damaging	Het
Art4	T	G	6: 136,831,886 (GRCm39)	N85T	probably damaging	Het
Asb3	C	A	11: 31,035,143 (GRCm39)	Q462K	probably benign	Het
Atcay	C	T	10: 81,049,114 (GRCm39)	E163K	possibly damaging	Het
Atp6v0e	T	C	17: 26,895,507 (GRCm39)	V20A	possibly damaging	Het
Atp7b	G	A	8: 22,505,943 (GRCm39)	Q520*	probably null	Het
Baat	A	T	4: 49,502,836 (GRCm39)	D95E	possibly damaging	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Ccdc24	G	A	4: 117,728,374 (GRCm39)	Q47*	probably null	Het
Cep170b	C	A	12: 112,710,993 (GRCm39)	Q1488K	probably damaging	Het
Cldn24	A	C	8: 48,275,374 (GRCm39)	D66A	probably benign	Het
Cln5	C	A	14: 103,310,663 (GRCm39)	T110K	probably damaging	Het
Clvs2	C	A	10: 33,404,511 (GRCm39)	S235I	possibly damaging	Het
Col5a3	C	T	9: 20,705,060 (GRCm39)	G730R	unknown	Het
Crim1	C	T	17: 78,677,514 (GRCm39)	P905L	probably benign	Het
Cxxc4	T	C	3: 133,963,824 (GRCm39)	V356A	probably benign	Het
Dctn6	G	T	8: 34,562,057 (GRCm39)	N93K	probably damaging	Het
Dnah9	G	A	11: 66,058,920 (GRCm39)	A125V	probably benign	Het
Dnhd1	T	C	7: 105,342,577 (GRCm39)	I1307T	probably benign	Het
Dpy19l1	T	A	9: 24,343,667 (GRCm39)	I493F	possibly damaging	Het
Ebf2	A	G	14: 67,661,509 (GRCm39)	I546V	probably benign	Het
Fbll1	T	C	11: 35,688,636 (GRCm39)	E209G	probably damaging	Het
Foxj2	G	A	6: 122,805,133 (GRCm39)	A2T	probably damaging	Het
Foxs1	A	T	2: 152,774,098 (GRCm39)	C318*	probably null	Het
Gorab	T	C	1: 163,214,199 (GRCm39)	T244A	possibly damaging	Het
Gtsf1l	C	A	2: 162,929,583 (GRCm39)		probably benign	Het
Herc1	T	C	9: 66,279,298 (GRCm39)	S69P	probably benign	Het
Hpca	C	T	4: 129,012,445 (GRCm39)	W30*	probably null	Het
Ing3	C	A	6: 21,953,813 (GRCm39)	Q85K	probably damaging	Het
Klhdc8b	T	C	9: 108,325,624 (GRCm39)	E264G	probably damaging	Het
Lair1	T	A	7: 4,058,826 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,057,650 (GRCm39)	Y575H	probably damaging	Het
Lamtor2	C	A	3: 88,458,020 (GRCm39)	G29*	probably null	Het
Loxhd1	A	T	18: 77,449,426 (GRCm39)	D341V	probably damaging	Het
Lrp2	T	A	2: 69,296,684 (GRCm39)	D3290V	probably damaging	Het
Matn2	A	T	15: 34,399,301 (GRCm39)	D396V	probably damaging	Het
Me3	T	A	7: 89,498,951 (GRCm39)	D510E	probably benign	Het
Melk	A	G	4: 44,318,109 (GRCm39)	Y170C	probably damaging	Het
Mgat2	T	C	12: 69,231,567 (GRCm39)	V47A	probably benign	Het
Mindy4	T	C	6: 55,278,049 (GRCm39)	I631T	probably damaging	Het
Myo5b	T	A	18: 74,710,511 (GRCm39)		probably null	Het
Myo7b	A	T	18: 32,131,203 (GRCm39)	D521E	probably damaging	Het
Nlrp9b	T	A	7: 19,796,608 (GRCm39)	F986I	probably benign	Het
Or8k39	A	G	2: 86,563,299 (GRCm39)	L219P	probably damaging	Het
Patj	A	G	4: 98,357,804 (GRCm39)	D690G	probably benign	Het
Pias2	T	C	18: 77,184,954 (GRCm39)	S5P	probably damaging	Het
Reep4	A	T	14: 70,785,143 (GRCm39)	S150C	probably damaging	Het
Slc25a21	T	C	12: 57,243,685 (GRCm39)	R14G	probably benign	Het
Slc6a6	G	C	6: 91,731,896 (GRCm39)	R575T	probably damaging	Het
Speg	T	A	1: 75,383,323 (GRCm39)	Y886*	probably null	Het
Tas2r103	A	C	6: 133,013,494 (GRCm39)	F191V	probably damaging	Het
Tbc1d19	A	G	5: 53,995,266 (GRCm39)	D145G	probably benign	Het
Tex47	T	A	5: 7,355,461 (GRCm39)	I214N	probably damaging	Het
Tnnt3	A	T	7: 142,055,382 (GRCm39)	D3V	probably damaging	Het
Trdv2-1	T	G	14: 54,183,842 (GRCm39)	S24A	probably benign	Het
Ubr4	A	G	4: 139,179,951 (GRCm39)	D3377G	possibly damaging	Het
Ugt3a1	A	T	15: 9,361,665 (GRCm39)	D147V	probably damaging	Het
Usp9y	A	T	Y: 1,446,843 (GRCm39)	D103E	probably benign	Homo
Vmn1r168	A	G	7: 23,240,961 (GRCm39)	I273V	probably benign	Het
Vmn2r61	T	C	7: 41,915,915 (GRCm39)	I176T	probably benign	Het
Vmn2r8	T	A	5: 108,956,463 (GRCm39)	D53V	probably benign	Het
Zbtb8os	A	T	4: 129,229,775 (GRCm39)		probably benign	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
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'- CCACAAATTATGTTAGCCAGCTGC -3'
(R):5'- AATGCGGGAAGTCCTTCAGC -3'

Sequencing Primer
(F):5'- GCCAGCTGCTTATAAAGGCAAAAC -3'
(R):5'- AAGTCCTTCAGCCAGAGTGCTAG -3'

Posted On

2018-03-15