Mutagenetix > Incidental Mutation

Incidental Mutation 'R9665:Zfp827'

727771

Institutional Source

Beutler Lab

Gene Symbol

Zfp827

Ensembl Gene

ENSMUSG00000071064

Gene Name

zinc finger protein 827

Synonyms

D630040G17Rik, 2810449M09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R9665 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79755066-79920395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79906756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 923 (M923V)

Ref Sequence

ENSEMBL: ENSMUSP00000096214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098614] [ENSMUST00000119254] [ENSMUST00000148713]

AlphaFold

Q505G8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098614
AA Change: M923V

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096214
Gene: ENSMUSG00000071064
AA Change: M923V

Domain	Start	End	E-Value	Type
low complexity region	102	128	N/A	INTRINSIC
low complexity region	226	256	N/A	INTRINSIC
low complexity region	271	298	N/A	INTRINSIC
low complexity region	306	342	N/A	INTRINSIC
low complexity region	343	348	N/A	INTRINSIC
ZnF_C2H2	371	393	6.78e-3	SMART
ZnF_C2H2	399	421	2.99e-4	SMART
ZnF_C2H2	430	452	5.42e-2	SMART
internal_repeat_2	561	585	3.31e-7	PROSPERO
low complexity region	613	627	N/A	INTRINSIC
internal_repeat_2	719	743	3.31e-7	PROSPERO
ZnF_C2H2	814	836	2.4e-3	SMART
ZnF_C2H2	842	864	4.72e-2	SMART
ZnF_C2H2	894	916	1.64e-1	SMART
ZnF_C2H2	926	949	7.89e0	SMART
low complexity region	956	974	N/A	INTRINSIC
ZnF_C2H2	1016	1038	1.26e-2	SMART
ZnF_C2H2	1044	1066	3.07e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119254
AA Change: M923V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113199
Gene: ENSMUSG00000071064
AA Change: M923V

Domain	Start	End	E-Value	Type
low complexity region	102	128	N/A	INTRINSIC
low complexity region	226	256	N/A	INTRINSIC
low complexity region	271	298	N/A	INTRINSIC
low complexity region	306	342	N/A	INTRINSIC
low complexity region	343	348	N/A	INTRINSIC
ZnF_C2H2	371	393	6.78e-3	SMART
ZnF_C2H2	399	421	2.99e-4	SMART
ZnF_C2H2	430	452	5.42e-2	SMART
internal_repeat_2	561	585	3.25e-7	PROSPERO
low complexity region	613	627	N/A	INTRINSIC
internal_repeat_2	719	743	3.25e-7	PROSPERO
ZnF_C2H2	814	836	2.4e-3	SMART
ZnF_C2H2	842	864	4.72e-2	SMART
ZnF_C2H2	894	916	1.64e-1	SMART
ZnF_C2H2	926	949	7.89e0	SMART
low complexity region	956	974	N/A	INTRINSIC
ZnF_C2H2	1016	1038	1.26e-2	SMART
ZnF_C2H2	1044	1066	3.07e-1	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119511
Gene: ENSMUSG00000071064
AA Change: M63V

Domain	Start	End	E-Value	Type
ZnF_C2H2	35	57	1.64e-1	SMART
ZnF_C2H2	67	90	7.89e0	SMART
low complexity region	97	115	N/A	INTRINSIC
ZnF_C2H2	157	179	1.26e-2	SMART
ZnF_C2H2	185	207	3.07e-1	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114208
Gene: ENSMUSG00000071064
AA Change: M191V

Domain	Start	End	E-Value	Type
ZnF_C2H2	77	99	2.4e-3	SMART
ZnF_C2H2	111	133	4.72e-2	SMART
ZnF_C2H2	163	185	1.64e-1	SMART
ZnF_C2H2	195	218	7.89e0	SMART
low complexity region	225	243	N/A	INTRINSIC
ZnF_C2H2	285	307	1.26e-2	SMART
ZnF_C2H2	313	335	3.07e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148713
AA Change: M215V

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120913
Gene: ENSMUSG00000071064
AA Change: M215V

Domain	Start	End	E-Value	Type
ZnF_C2H2	106	128	2.4e-3	SMART
ZnF_C2H2	134	156	4.72e-2	SMART
ZnF_C2H2	186	208	1.64e-1	SMART
ZnF_C2H2	218	241	7.89e0	SMART
low complexity region	248	266	N/A	INTRINSIC
ZnF_C2H2	308	330	1.26e-2	SMART
ZnF_C2H2	336	358	3.07e-1	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000120562
Gene: ENSMUSG00000071064
AA Change: M139V

Domain	Start	End	E-Value	Type
ZnF_C2H2	31	53	2.4e-3	SMART
ZnF_C2H2	59	81	4.72e-2	SMART
ZnF_C2H2	111	133	1.64e-1	SMART
ZnF_C2H2	143	166	7.89e0	SMART
low complexity region	173	191	N/A	INTRINSIC
ZnF_C2H2	233	255	1.26e-2	SMART
ZnF_C2H2	261	283	3.07e-1	SMART
ZnF_C2H2	290	312	9.44e-2	SMART
ZnF_C2H2	317	339	4.34e-1	SMART
ZnF_C2H2	345	367	7.9e-4	SMART
ZnF_C2H2	373	396	2.53e-2	SMART
ZnF_C2H2	402	424	2.45e0	SMART
low complexity region	444	466	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	C	14: 44,407,796 (GRCm39)	E79G	probably damaging	Het
4930583I09Rik	T	A	17: 65,141,288 (GRCm39)	Q78L	unknown	Het
9330159F19Rik	G	T	10: 29,103,344 (GRCm39)	V642F	probably benign	Het
Abca9	T	A	11: 110,006,280 (GRCm39)	Q1275L	probably benign	Het
Abca9	G	T	11: 110,006,281 (GRCm39)	Q1275K	probably benign	Het
Ager	C	T	17: 34,819,090 (GRCm39)	P313S	probably benign	Het
Ap4m1	T	A	5: 138,171,273 (GRCm39)	N98K	probably benign	Het
Arhgef12	T	G	9: 42,929,650 (GRCm39)	K215T	possibly damaging	Het
Arhgef4	T	C	1: 34,849,518 (GRCm39)	Y370H	probably benign	Het
Bcat1	T	G	6: 144,994,488 (GRCm39)	H3P	probably benign	Het
Btnl6	T	A	17: 34,732,635 (GRCm39)	Q313L	probably benign	Het
Cad	T	C	5: 31,229,703 (GRCm39)	S1458P	probably benign	Het
Cfap161	A	G	7: 83,442,579 (GRCm39)	V78A	probably benign	Het
Chd2	C	A	7: 73,079,555 (GRCm39)	A1782S	probably benign	Het
Cimip2b	T	A	4: 43,427,554 (GRCm39)	R257*	probably null	Het
Col4a3	A	T	1: 82,668,301 (GRCm39)	T1042S	unknown	Het
Cramp1	A	T	17: 25,196,545 (GRCm39)	N856K	probably damaging	Het
Crispld2	G	A	8: 120,760,316 (GRCm39)	R414H	probably benign	Het
Ctsb	T	A	14: 63,370,917 (GRCm39)		probably null	Het
Cyp2c69	T	C	19: 39,839,504 (GRCm39)	D373G	possibly damaging	Het
Dnah3	A	G	7: 119,644,981 (GRCm39)	V1100A	probably benign	Het
Dnajb6	A	T	5: 29,971,374 (GRCm39)	L225F	probably damaging	Het
Dscc1	A	T	15: 54,946,837 (GRCm39)	I296K	unknown	Het
Epb41l2	A	G	10: 25,317,798 (GRCm39)	D105G	probably benign	Het
Evpl	G	A	11: 116,123,497 (GRCm39)	R292C	probably damaging	Het
Flnc	T	C	6: 29,455,447 (GRCm39)	I2032T	probably damaging	Het
Fryl	T	A	5: 73,222,299 (GRCm39)	D2094V	probably damaging	Het
Gigyf2	A	G	1: 87,331,457 (GRCm39)	S202G	unknown	Het
Hdgfl1	A	T	13: 26,953,812 (GRCm39)	M87K	probably benign	Het
Htra3	T	A	5: 35,836,654 (GRCm39)	I13F	unknown	Het
Igf2r	T	C	17: 12,913,027 (GRCm39)	N1774D	probably benign	Het
Ighj1	A	T	12: 113,393,446 (GRCm39)	Y3N		Het
Incenp	T	C	19: 9,871,329 (GRCm39)	H100R	unknown	Het
Klrb1c	A	G	6: 128,760,625 (GRCm39)		probably null	Het
Lmbrd1	T	A	1: 24,732,065 (GRCm39)	V94D	probably damaging	Het
Lmna	A	T	3: 88,389,793 (GRCm39)	S611T	probably benign	Het
Lsp1	A	C	7: 142,044,142 (GRCm39)	I296L	probably benign	Het
Mdga1	A	T	17: 30,051,991 (GRCm39)	I892N	probably damaging	Het
Micu3	A	G	8: 40,828,666 (GRCm39)	E351G	probably benign	Het
Mrpl35	A	G	6: 71,795,704 (GRCm39)	V61A	probably benign	Het
Nhsl1	A	G	10: 18,401,599 (GRCm39)	K908E	possibly damaging	Het
Nlk	A	G	11: 78,481,753 (GRCm39)	L236P		Het
Nwd1	T	A	8: 73,401,106 (GRCm39)	H735Q	probably damaging	Het
Or1e1b-ps1	A	T	11: 73,845,656 (GRCm39)	I47F	probably benign	Het
Or5d47	A	G	2: 87,804,596 (GRCm39)	S138P	possibly damaging	Het
Or5w17	A	T	2: 87,583,671 (GRCm39)	I222N	probably damaging	Het
Or7h8	T	A	9: 20,124,402 (GRCm39)	Y252*	probably null	Het
Otof	T	A	5: 30,584,895 (GRCm39)	S70C	probably benign	Het
Pcdh20	A	T	14: 88,707,162 (GRCm39)	V46D	probably benign	Het
Pjvk	A	G	2: 76,487,827 (GRCm39)	T240A	probably benign	Het
Pou2f1	A	G	1: 165,703,600 (GRCm39)	S697P	probably damaging	Het
Prkn	T	A	17: 11,286,062 (GRCm39)	D18E	possibly damaging	Het
Prmt9	G	A	8: 78,307,267 (GRCm39)	V739I	probably benign	Het
Prr14	A	G	7: 127,073,091 (GRCm39)	D146G	probably benign	Het
Rai14	T	G	15: 10,574,803 (GRCm39)	E747D	probably damaging	Het
Rapgef4	A	T	2: 72,036,018 (GRCm39)	T504S	probably benign	Het
Rilpl2	C	A	5: 124,616,240 (GRCm39)		probably benign	Het
Ror2	A	T	13: 53,439,561 (GRCm39)	M1K	probably null	Het
Shisa9	A	G	16: 12,085,446 (GRCm39)	T352A	probably benign	Het
Slc35a4	A	G	18: 36,813,651 (GRCm39)	N33S	probably benign	Het
Slx4	G	T	16: 3,806,890 (GRCm39)	L518I	probably benign	Het
Speer1i	A	G	5: 11,092,852 (GRCm39)	K132R		Het
Spon2	T	C	5: 33,374,702 (GRCm39)	T35A	probably benign	Het
Syne3	A	C	12: 104,924,247 (GRCm39)	L471R	probably benign	Het
Tas2r115	A	G	6: 132,714,390 (GRCm39)	L187S	probably benign	Het
Tbc1d30	G	T	10: 121,102,886 (GRCm39)	S715R	possibly damaging	Het
Tdrd1	A	G	19: 56,819,572 (GRCm39)	E24G	probably benign	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tjp1	A	G	7: 64,962,644 (GRCm39)	S1178P	probably benign	Het
Upf2	A	G	2: 6,051,715 (GRCm39)	S1126G	unknown	Het
Vmn1r128	G	T	7: 21,083,362 (GRCm39)	C22F	probably damaging	Het
Vmn2r95	G	T	17: 18,660,607 (GRCm39)	V340F	probably damaging	Het
Vps13c	A	T	9: 67,863,025 (GRCm39)	K3014*	probably null	Het
Wdr75	T	C	1: 45,843,013 (GRCm39)	V126A	unknown	Het
Yeats4	A	T	10: 117,053,343 (GRCm39)	Y139*	probably null	Het
Zc3h13	A	G	14: 75,567,989 (GRCm39)	D1094G	probably damaging	Het
Zfp143	C	G	7: 109,692,414 (GRCm39)	I608M	probably damaging	Het
Zfp772	A	T	7: 7,212,793 (GRCm39)	M1K	probably null	Het

Other mutations in Zfp827

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Zfp827	APN	8	79,787,362 (GRCm39)	missense	possibly damaging	0.82
IGL01545:Zfp827	APN	8	79,797,063 (GRCm39)	missense	probably damaging	1.00
IGL01552:Zfp827	APN	8	79,802,820 (GRCm39)	missense	probably damaging	1.00
IGL02261:Zfp827	APN	8	79,906,708 (GRCm39)	missense	probably damaging	0.97
IGL02451:Zfp827	APN	8	79,787,601 (GRCm39)	missense	probably damaging	1.00
IGL03130:Zfp827	APN	8	79,787,586 (GRCm39)	missense	probably damaging	1.00
IGL03411:Zfp827	APN	8	79,803,116 (GRCm39)	missense	probably damaging	0.99
E0354:Zfp827	UTSW	8	79,863,206 (GRCm39)	missense	probably damaging	1.00
R0502:Zfp827	UTSW	8	79,905,706 (GRCm39)	splice site	probably null
R0547:Zfp827	UTSW	8	79,786,939 (GRCm39)	missense	probably damaging	1.00
R0926:Zfp827	UTSW	8	79,844,821 (GRCm39)	missense	probably benign	0.00
R0975:Zfp827	UTSW	8	79,787,814 (GRCm39)	missense	probably benign	0.00
R1305:Zfp827	UTSW	8	79,787,523 (GRCm39)	missense	possibly damaging	0.95
R1462:Zfp827	UTSW	8	79,803,108 (GRCm39)	missense	probably benign
R1462:Zfp827	UTSW	8	79,803,108 (GRCm39)	missense	probably benign
R1638:Zfp827	UTSW	8	79,802,975 (GRCm39)	missense	possibly damaging	0.94
R1714:Zfp827	UTSW	8	79,787,202 (GRCm39)	missense	probably damaging	1.00
R2044:Zfp827	UTSW	8	79,802,865 (GRCm39)	missense	probably benign
R2132:Zfp827	UTSW	8	79,912,350 (GRCm39)	missense	possibly damaging	0.53
R3844:Zfp827	UTSW	8	79,863,248 (GRCm39)	missense	probably damaging	0.99
R4329:Zfp827	UTSW	8	79,916,463 (GRCm39)	utr 3 prime	probably benign
R4629:Zfp827	UTSW	8	79,787,011 (GRCm39)	missense	probably damaging	0.99
R4873:Zfp827	UTSW	8	79,787,403 (GRCm39)	missense	probably damaging	1.00
R4875:Zfp827	UTSW	8	79,787,403 (GRCm39)	missense	probably damaging	1.00
R4936:Zfp827	UTSW	8	79,787,812 (GRCm39)	missense	probably benign
R4965:Zfp827	UTSW	8	79,787,910 (GRCm39)	missense	probably benign
R5103:Zfp827	UTSW	8	79,797,032 (GRCm39)	missense	probably damaging	1.00
R5366:Zfp827	UTSW	8	79,912,333 (GRCm39)	missense	possibly damaging	0.94
R5794:Zfp827	UTSW	8	79,797,071 (GRCm39)	missense	probably damaging	1.00
R5825:Zfp827	UTSW	8	79,905,645 (GRCm39)	missense	probably damaging	1.00
R6118:Zfp827	UTSW	8	79,803,067 (GRCm39)	missense	possibly damaging	0.75
R6236:Zfp827	UTSW	8	79,797,105 (GRCm39)	missense	probably damaging	1.00
R6263:Zfp827	UTSW	8	79,905,702 (GRCm39)	missense	probably damaging	1.00
R6306:Zfp827	UTSW	8	79,787,324 (GRCm39)	missense	probably damaging	1.00
R6490:Zfp827	UTSW	8	79,916,606 (GRCm39)	utr 3 prime	probably benign
R6497:Zfp827	UTSW	8	79,906,757 (GRCm39)	missense	probably damaging	1.00
R7250:Zfp827	UTSW	8	79,916,721 (GRCm39)	missense
R7290:Zfp827	UTSW	8	79,916,442 (GRCm39)	missense	possibly damaging	0.86
R7443:Zfp827	UTSW	8	79,917,047 (GRCm39)	missense
R7708:Zfp827	UTSW	8	79,902,591 (GRCm39)	missense	probably damaging	1.00
R7754:Zfp827	UTSW	8	79,916,958 (GRCm39)	missense
R7836:Zfp827	UTSW	8	79,912,979 (GRCm39)	missense	probably damaging	1.00
R7995:Zfp827	UTSW	8	79,844,887 (GRCm39)	missense	possibly damaging	0.86
R8162:Zfp827	UTSW	8	79,787,206 (GRCm39)	nonsense	probably null
R8747:Zfp827	UTSW	8	79,755,316 (GRCm39)	start codon destroyed	probably null
R8798:Zfp827	UTSW	8	79,916,463 (GRCm39)	utr 3 prime	probably benign
R8980:Zfp827	UTSW	8	79,803,092 (GRCm39)	missense	probably benign	0.00
R9099:Zfp827	UTSW	8	79,917,107 (GRCm39)	missense
R9178:Zfp827	UTSW	8	79,818,564 (GRCm39)	missense	probably damaging	1.00
R9246:Zfp827	UTSW	8	79,803,132 (GRCm39)	missense	possibly damaging	0.75
R9277:Zfp827	UTSW	8	79,787,029 (GRCm39)	missense	probably damaging	0.97
R9318:Zfp827	UTSW	8	79,844,982 (GRCm39)	missense	possibly damaging	0.75
R9339:Zfp827	UTSW	8	79,844,887 (GRCm39)	missense	probably benign	0.00
R9425:Zfp827	UTSW	8	79,905,588 (GRCm39)	missense	probably damaging	1.00
R9499:Zfp827	UTSW	8	79,787,403 (GRCm39)	missense	probably damaging	1.00
R9544:Zfp827	UTSW	8	79,905,604 (GRCm39)	missense	probably damaging	1.00
R9551:Zfp827	UTSW	8	79,787,403 (GRCm39)	missense	probably damaging	1.00
R9552:Zfp827	UTSW	8	79,787,403 (GRCm39)	missense	probably damaging	1.00
R9588:Zfp827	UTSW	8	79,905,604 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGAAACCAGTGTTCTCCC -3'
(R):5'- ATCACGTGTGGCATGACAAC -3'

Sequencing Primer
(F):5'- CGCCCACTGTGTACCTGAG -3'
(R):5'- TGTCTGCAGCAAATTCCAGG -3'

Posted On

2022-10-06