Mutagenetix > Incidental Mutation

Incidental Mutation 'R2411:Zfp869'

249993

Institutional Source

Beutler Lab

Gene Symbol

Zfp869

Ensembl Gene

ENSMUSG00000054648

Gene Name

zinc finger protein 869

Synonyms

1200003I07Rik, U 2-7-1

MMRRC Submission

040376-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R2411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70157787-70169718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70159179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 465 (C465R)

Ref Sequence

ENSEMBL: ENSMUSP00000079780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080987]

AlphaFold

Q9DC47

Predicted Effect

probably damaging
Transcript: ENSMUST00000080987
AA Change: C465R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079780
Gene: ENSMUSG00000054648
AA Change: C465R

Domain	Start	End	E-Value	Type
KRAB	16	73	6.16e-15	SMART
low complexity region	83	94	N/A	INTRINSIC
ZnF_C2H2	180	202	3.44e-4	SMART
ZnF_C2H2	208	230	5.5e-3	SMART
ZnF_C2H2	236	258	9.08e-4	SMART
ZnF_C2H2	264	286	2.71e-2	SMART
ZnF_C2H2	292	314	2.09e-3	SMART
ZnF_C2H2	320	342	6.88e-4	SMART
ZnF_C2H2	348	370	1.25e-1	SMART
ZnF_C2H2	376	398	1.38e-3	SMART
ZnF_C2H2	404	426	5.14e-3	SMART
ZnF_C2H2	432	454	3.16e-3	SMART
ZnF_C2H2	460	482	3.69e-4	SMART
ZnF_C2H2	488	510	1.04e-3	SMART

Meta Mutation Damage Score

0.8868

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 93.9%

Validation Efficiency

98% (42/43)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ZNF91 gene encodes a zinc finger protein of the KRAB (Kruppel-associated box) subfamily (Bellefroid et al., 1991, 1993 [PubMed 2023909] [PubMed 8467795]).[supplied by OMIM, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
4933402D24Rik	A	G	1: 63,795,373 (GRCm39)		probably benign	Het
9030612E09Rik	G	T	10: 43,050,796 (GRCm39)	R30L	possibly damaging	Het
Aadacl2	A	G	3: 59,924,844 (GRCm39)	D137G	possibly damaging	Het
Acad11	T	G	9: 103,963,222 (GRCm39)		probably benign	Het
Acap1	A	T	11: 69,776,311 (GRCm39)	N229K	probably damaging	Het
Agbl1	A	G	7: 76,369,898 (GRCm39)	T666A	probably damaging	Het
Btbd16	T	C	7: 130,391,954 (GRCm39)	F160L	probably damaging	Het
Clock	A	C	5: 76,379,360 (GRCm39)	H525Q	probably benign	Het
Col6a1	G	T	10: 76,546,922 (GRCm39)	Q767K	unknown	Het
Creld1	A	G	6: 113,466,737 (GRCm39)	H240R	probably benign	Het
Dlg4	G	A	11: 69,932,755 (GRCm39)		probably null	Het
Fam204a	A	T	19: 60,187,870 (GRCm39)	*237R	probably null	Het
Filip1	T	A	9: 79,805,715 (GRCm39)	N13I	probably damaging	Het
Gm14295	G	T	2: 176,499,206 (GRCm39)	A19S	probably benign	Het
Hddc3	A	T	7: 79,993,341 (GRCm39)	Q56L	probably damaging	Het
Hes6	A	C	1: 91,340,986 (GRCm39)		probably null	Het
Hormad1	A	G	3: 95,487,326 (GRCm39)	D270G	probably benign	Het
Ifitm1	A	G	7: 140,549,711 (GRCm39)		probably null	Het
Igbp1b	A	C	6: 138,634,871 (GRCm39)	V191G	probably damaging	Het
Impg2	T	A	16: 56,072,517 (GRCm39)	N316K	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Lilra6	T	C	7: 3,914,453 (GRCm39)	Y566C	probably damaging	Het
Map4k4	A	G	1: 40,046,656 (GRCm39)	D775G	probably damaging	Het
Mtmr10	A	T	7: 63,947,245 (GRCm39)	K53N	probably damaging	Het
Mybpc2	G	A	7: 44,155,662 (GRCm39)	R864W	probably damaging	Het
Nckap1l	C	A	15: 103,391,995 (GRCm39)	P810Q	probably damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or14c44	T	C	7: 86,062,290 (GRCm39)	V281A	possibly damaging	Het
Or1ad1	A	G	11: 50,875,758 (GRCm39)	T77A	probably damaging	Het
Or4a27	C	T	2: 88,559,741 (GRCm39)	M67I	probably benign	Het
Ppp2r3c	T	C	12: 55,345,269 (GRCm39)	K73R	probably benign	Het
Ptpru	A	T	4: 131,498,780 (GRCm39)	F1311Y	probably damaging	Het
Ror2	G	A	13: 53,284,980 (GRCm39)	P144L	possibly damaging	Het
Setd2	A	G	9: 110,379,497 (GRCm39)	E1104G	possibly damaging	Het
St14	G	A	9: 31,019,530 (GRCm39)	T97I	probably benign	Het
Stag3	A	G	5: 138,281,290 (GRCm39)		probably benign	Het
Sytl3	T	C	17: 7,003,892 (GRCm39)	S326P	probably damaging	Het
Tor1b	G	T	2: 30,845,824 (GRCm39)	S167I	probably damaging	Het
Ttn	T	A	2: 76,568,359 (GRCm39)	E27511D	probably damaging	Het
Uso1	T	A	5: 92,306,258 (GRCm39)		probably benign	Het
Vmn1r10	G	T	6: 57,091,124 (GRCm39)	V239F	probably benign	Het
Vps35l	G	C	7: 118,391,818 (GRCm39)	A410P	probably damaging	Het
Zfp160	C	T	17: 21,246,007 (GRCm39)	R186C	possibly damaging	Het
Zfp957	T	C	14: 79,451,782 (GRCm39)	K6E	unknown	Het

Other mutations in Zfp869

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0494:Zfp869	UTSW	8	70,159,054 (GRCm39)	missense	probably damaging	1.00
R1902:Zfp869	UTSW	8	70,160,088 (GRCm39)	missense	probably benign	0.00
R4687:Zfp869	UTSW	8	70,160,793 (GRCm39)	missense	probably benign	0.00
R4691:Zfp869	UTSW	8	70,159,513 (GRCm39)	nonsense	probably null
R5591:Zfp869	UTSW	8	70,160,342 (GRCm39)	missense	probably benign	0.00
R6859:Zfp869	UTSW	8	70,159,175 (GRCm39)	missense	probably damaging	1.00
R7143:Zfp869	UTSW	8	70,159,306 (GRCm39)	missense	probably damaging	1.00
R7219:Zfp869	UTSW	8	70,159,356 (GRCm39)	missense	probably damaging	1.00
R7278:Zfp869	UTSW	8	70,159,128 (GRCm39)	missense	probably damaging	1.00
R7808:Zfp869	UTSW	8	70,159,636 (GRCm39)	missense	probably damaging	1.00
R8461:Zfp869	UTSW	8	70,160,305 (GRCm39)	missense	probably benign	0.01
R8730:Zfp869	UTSW	8	70,159,177 (GRCm39)	nonsense	probably null
R9367:Zfp869	UTSW	8	70,161,057 (GRCm39)	missense	probably damaging	0.99
R9454:Zfp869	UTSW	8	70,159,241 (GRCm39)	missense	probably benign	0.03
R9476:Zfp869	UTSW	8	70,159,849 (GRCm39)	nonsense	probably null
R9509:Zfp869	UTSW	8	70,159,596 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTTTACAGATAAAAGGTTCCCC -3'
(R):5'- TGCGGTAAAGCCTTTAGGTG -3'

Sequencing Primer
(F):5'- AGGTTCCCCCTTGTCGTGAG -3'
(R):5'- AAAGCCTTTAGGTGTCAGTCC -3'

Posted On

2014-11-12