Mutagenetix > Incidental Mutation

Incidental Mutation 'R6425:Zfp870'

518310

Institutional Source

Beutler Lab

Gene Symbol

Zfp870

Ensembl Gene

ENSMUSG00000095325

Gene Name

zinc finger protein 870

Synonyms

MMRRC Submission

044564-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R6425 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33098193-33110616 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33102045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 429 (N429S)

Ref Sequence

ENSEMBL: ENSMUSP00000154207 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178401] [ENSMUST00000228075]

AlphaFold

Q6NZJ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178401
AA Change: N428S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136197
Gene: ENSMUSG00000095325
AA Change: N428S

Domain	Start	End	E-Value	Type
KRAB	3	60	1.01e-19	SMART
ZnF_C2H2	193	215	4.5e1	SMART
ZnF_C2H2	221	241	6.4e0	SMART
ZnF_C2H2	277	299	2.24e-3	SMART
ZnF_C2H2	305	327	9.58e-3	SMART
ZnF_C2H2	333	355	2.86e-1	SMART
ZnF_C2H2	361	383	6.42e-4	SMART
ZnF_C2H2	389	411	1.18e-2	SMART
ZnF_C2H2	417	439	3.89e-3	SMART
ZnF_C2H2	445	467	5.5e-3	SMART
ZnF_C2H2	473	495	4.47e-3	SMART
ZnF_C2H2	501	523	5.9e-3	SMART
ZnF_C2H2	529	551	3.11e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228075
AA Change: N429S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228410

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,220,058 (GRCm39)	T3A	possibly damaging	Het
Ash1l	A	G	3: 88,891,087 (GRCm39)	T989A	probably damaging	Het
Atp6v0a2	T	A	5: 124,790,194 (GRCm39)	L459Q	probably damaging	Het
Atp6v0a4	A	T	6: 38,027,446 (GRCm39)	V788D	possibly damaging	Het
Auh	G	A	13: 52,995,080 (GRCm39)	R162C	probably damaging	Het
Begain	C	A	12: 108,999,320 (GRCm39)	G689C	probably damaging	Het
Brcc3dc	A	C	10: 108,535,757 (GRCm39)	M66R	possibly damaging	Het
Cd300lg	T	C	11: 101,937,749 (GRCm39)	F193S	probably benign	Het
Cenpf	T	G	1: 189,392,095 (GRCm39)	N579T	probably benign	Het
Cfap65	T	C	1: 74,966,868 (GRCm39)	H273R	probably benign	Het
Col6a6	T	C	9: 105,576,064 (GRCm39)	T2099A	probably benign	Het
Dock1	A	G	7: 134,765,110 (GRCm39)	K1701E	possibly damaging	Het
Dtl	T	C	1: 191,278,735 (GRCm39)	I376V	probably benign	Het
F830045P16Rik	C	A	2: 129,302,500 (GRCm39)	C364F	probably damaging	Het
Fancl	C	T	11: 26,349,680 (GRCm39)	L63F	probably damaging	Het
Gli2	A	T	1: 118,763,624 (GRCm39)	L1509*	probably null	Het
Glyr1	A	T	16: 4,854,350 (GRCm39)		probably null	Het
Igkv6-32	A	T	6: 70,051,284 (GRCm39)	M24K	probably damaging	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Klhl18	T	C	9: 110,275,749 (GRCm39)	E133G	possibly damaging	Het
Lgals4	A	T	7: 28,533,885 (GRCm39)	K20*	probably null	Het
Myo9b	A	G	8: 71,786,272 (GRCm39)	D646G	probably damaging	Het
Pcdhb3	T	C	18: 37,435,528 (GRCm39)	L498P	possibly damaging	Het
Pcdhgb4	T	C	18: 37,854,640 (GRCm39)	V345A	possibly damaging	Het
Pdc	T	C	1: 150,209,123 (GRCm39)	V202A	probably benign	Het
Pfas	T	C	11: 68,881,897 (GRCm39)	I929M	probably benign	Het
Plxna1	G	T	6: 89,311,647 (GRCm39)	R953S	probably benign	Het
Pnpla5	T	C	15: 84,006,836 (GRCm39)		probably null	Het
Psmd1	T	C	1: 85,998,350 (GRCm39)		probably null	Het
Rbm47	C	T	5: 66,180,159 (GRCm39)	G452S	probably damaging	Het
Reln	G	A	5: 22,116,018 (GRCm39)	Q2997*	probably null	Het
Rrn3	A	G	16: 13,629,465 (GRCm39)	T594A	probably benign	Het
Slc25a35	G	A	11: 68,859,591 (GRCm39)	A35T	possibly damaging	Het
Slc33a1	A	G	3: 63,871,484 (GRCm39)	V43A	probably benign	Het
Sorcs3	T	C	19: 48,752,746 (GRCm39)		probably null	Het
Tbk1	A	G	10: 121,399,867 (GRCm39)	M319T	probably benign	Het
Tmem132c	T	A	5: 127,630,329 (GRCm39)	M622K	possibly damaging	Het
Tshz1	A	T	18: 84,033,688 (GRCm39)	F240Y	probably damaging	Het
Ube2b	A	T	11: 51,882,244 (GRCm39)	L73*	probably null	Het
Vipas39	A	G	12: 87,288,063 (GRCm39)	V449A	probably damaging	Het

Other mutations in Zfp870

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Zfp870	APN	17	33,101,980 (GRCm39)	missense	possibly damaging	0.72
R1591:Zfp870	UTSW	17	33,102,990 (GRCm39)	missense	probably damaging	1.00
R1892:Zfp870	UTSW	17	33,102,863 (GRCm39)	missense	possibly damaging	0.66
R1941:Zfp870	UTSW	17	33,101,778 (GRCm39)	missense	possibly damaging	0.71
R1997:Zfp870	UTSW	17	33,103,027 (GRCm39)	missense	possibly damaging	0.66
R2289:Zfp870	UTSW	17	33,102,334 (GRCm39)	missense	probably benign	0.27
R4240:Zfp870	UTSW	17	33,104,710 (GRCm39)	missense	probably benign	0.00
R4860:Zfp870	UTSW	17	33,102,314 (GRCm39)	nonsense	probably null
R4860:Zfp870	UTSW	17	33,102,314 (GRCm39)	nonsense	probably null
R5306:Zfp870	UTSW	17	33,102,627 (GRCm39)	missense	probably damaging	1.00
R6736:Zfp870	UTSW	17	33,102,570 (GRCm39)	missense	probably benign
R7054:Zfp870	UTSW	17	33,102,456 (GRCm39)	missense	probably damaging	0.97
R7291:Zfp870	UTSW	17	33,102,828 (GRCm39)	missense	probably damaging	0.97
R7466:Zfp870	UTSW	17	33,102,736 (GRCm39)	missense	possibly damaging	0.66
R7681:Zfp870	UTSW	17	33,101,664 (GRCm39)	missense	probably benign
R8230:Zfp870	UTSW	17	33,102,663 (GRCm39)	missense	possibly damaging	0.46
R8346:Zfp870	UTSW	17	33,102,843 (GRCm39)	missense	possibly damaging	0.92
R8673:Zfp870	UTSW	17	33,101,904 (GRCm39)	missense	probably damaging	0.97
R8695:Zfp870	UTSW	17	33,102,679 (GRCm39)	missense	possibly damaging	0.46
R8736:Zfp870	UTSW	17	33,104,966 (GRCm39)	missense	possibly damaging	0.92
R9057:Zfp870	UTSW	17	33,102,793 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- CTGAACTGAAAGCTTTCCCGC -3'
(R):5'- CAAGGTAGCTCACAGTGGTG -3'

Sequencing Primer
(F):5'- AACTGAAAGCTTTCCCGCATTGC -3'
(R):5'- ACAGTGGTGTGAATCCTTACG -3'

Posted On

2018-05-24