Mutagenetix > Incidental Mutation

Incidental Mutation 'R6859:Zfp869'

537812

Institutional Source

Beutler Lab

Gene Symbol

Zfp869

Ensembl Gene

ENSMUSG00000054648

Gene Name

zinc finger protein 869

Synonyms

1200003I07Rik, U 2-7-1

MMRRC Submission

044961-MU

Accession Numbers

Essential gene?

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

Stock #

R6859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70157787-70169718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70159175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 466 (G466D)

Ref Sequence

ENSEMBL: ENSMUSP00000079780 (fasta)

Gene Model

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

AlphaFold

Q9DC47

Predicted Effect

probably damaging
Transcript: ENSMUST00000080987
AA Change: G466D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079780
Gene: ENSMUSG00000054648
AA Change: G466D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (42/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,669,799 (GRCm39)	V788A	possibly damaging	Het
Abca15	A	T	7: 120,002,217 (GRCm39)	K1577*	probably null	Het
Arhgap12	T	C	18: 6,111,803 (GRCm39)	E187G	probably damaging	Het
Arhgef10	T	A	8: 15,025,005 (GRCm39)	Y398N	probably damaging	Het
Baz2b	C	T	2: 59,731,874 (GRCm39)	V2055I	probably benign	Het
Btnl4	T	C	17: 34,688,353 (GRCm39)	D475G	probably damaging	Het
C1qtnf12	T	A	4: 156,050,070 (GRCm39)	F190Y	probably damaging	Het
Cacul1	A	G	19: 60,522,683 (GRCm39)	S284P	probably damaging	Het
Ccdc166	C	A	15: 75,853,820 (GRCm39)	V87L	possibly damaging	Het
Ceacam13	C	T	7: 17,747,032 (GRCm39)	P162S	probably damaging	Het
Cep250	T	A	2: 155,834,446 (GRCm39)	S2124T	probably benign	Het
Chd5	T	C	4: 152,462,664 (GRCm39)	S1372P	probably damaging	Het
Chil3	C	A	3: 106,067,730 (GRCm39)	R145L	probably benign	Het
Cyp4f40	T	C	17: 32,894,923 (GRCm39)	S454P	probably benign	Het
Defa3	T	A	8: 21,778,213 (GRCm39)	C66S	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Glmp	C	A	3: 88,235,349 (GRCm39)	N260K	probably benign	Het
Gsap	T	A	5: 21,486,016 (GRCm39)	L653Q	probably damaging	Het
Il18rap	T	A	1: 40,564,255 (GRCm39)	Y124*	probably null	Het
Lao1	A	C	4: 118,820,948 (GRCm39)	K58T	probably damaging	Het
Lepr	T	A	4: 101,622,487 (GRCm39)		probably null	Het
Mrgpra3	G	C	7: 47,239,781 (GRCm39)	I48M	probably benign	Het
Nck2	T	G	1: 43,593,511 (GRCm39)	N239K	probably benign	Het
Optc	A	T	1: 133,825,554 (GRCm39)	V324E	possibly damaging	Het
Or12k7	A	T	2: 36,958,794 (GRCm39)	Y159F	probably damaging	Het
Or4p8	A	G	2: 88,727,278 (GRCm39)	I221T	probably benign	Het
Or51b6	G	A	7: 103,555,908 (GRCm39)	W84*	probably null	Het
Otog	T	C	7: 45,923,205 (GRCm39)	S1027P	probably damaging	Het
Plbd2	A	G	5: 120,641,407 (GRCm39)	F84L	probably benign	Het
Plxnb1	T	C	9: 108,935,838 (GRCm39)	L110P	probably damaging	Het
Prnp	T	C	2: 131,778,708 (GRCm39)	V120A	possibly damaging	Het
Ptprh	C	A	7: 4,552,370 (GRCm39)	E965*	probably null	Het
Reln	T	C	5: 22,239,568 (GRCm39)	T900A	probably damaging	Het
Stt3a	A	G	9: 36,646,682 (GRCm39)	Y644H	probably damaging	Het
Sulf2	A	G	2: 165,929,039 (GRCm39)	Y311H	probably damaging	Het
Tbc1d32	A	T	10: 56,056,626 (GRCm39)	I438N	probably damaging	Het
Tbcd	T	C	11: 121,387,937 (GRCm39)	V356A	possibly damaging	Het
Tecta	T	C	9: 42,303,425 (GRCm39)	N69S	probably damaging	Het
Topaz1	T	C	9: 122,631,023 (GRCm39)	V1618A	probably benign	Het
Usp48	C	T	4: 137,352,587 (GRCm39)	T627I	possibly damaging	Het
Vcl	T	C	14: 21,037,143 (GRCm39)	V247A	probably damaging	Het
Vmn2r59	A	G	7: 41,693,277 (GRCm39)	L441P	probably damaging	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
R2411:Zfp869	UTSW	8	70,159,179 (GRCm39)	missense	probably damaging	1.00
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
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'- CCACACTGTTTACAGATAAAAGGTTCC -3'
(R):5'- CGGTAAAGCCTTTAGGTGTCAG -3'

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

Posted On

2018-10-18