Mutagenetix > Incidental Mutation

Incidental Mutation 'R1462:Zfp827'

186322

Institutional Source

Beutler Lab

Gene Symbol

Zfp827

Ensembl Gene

ENSMUSG00000071064

Gene Name

zinc finger protein 827

Synonyms

D630040G17Rik, 2810449M09Rik

MMRRC Submission

039516-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R1462 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79755066-79920395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79803108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 560 (V560A)

Ref Sequence

ENSEMBL: ENSMUSP00000113199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087927] [ENSMUST00000098614] [ENSMUST00000119254]

AlphaFold

Q505G8

Predicted Effect

probably benign
Transcript: ENSMUST00000087927

SMART Domains

Protein: ENSMUSP00000085238
Gene: ENSMUSG00000071064

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	422	5.59e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098614
AA Change: V560A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096214
Gene: ENSMUSG00000071064
AA Change: V560A

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 benign
Transcript: ENSMUST00000119254
AA Change: V560A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113199
Gene: ENSMUSG00000071064
AA Change: V560A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (83/84)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	A	7: 40,642,370 (GRCm39)	S104*	probably null	Het
A430093F15Rik	A	T	19: 10,762,845 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,433,924 (GRCm39)		probably benign	Het
Abca9	T	C	11: 110,051,342 (GRCm39)	D118G	probably benign	Het
Adamts16	A	G	13: 70,984,253 (GRCm39)	F137L	probably benign	Het
Adamts3	T	C	5: 90,009,208 (GRCm39)	I152V	probably benign	Het
Adcy4	T	A	14: 56,015,765 (GRCm39)	E441D	possibly damaging	Het
Adgra1	T	A	7: 139,455,745 (GRCm39)	Y458N	probably damaging	Het
Atpaf1	C	T	4: 115,642,150 (GRCm39)		probably benign	Het
Bhlhe22	C	G	3: 18,109,946 (GRCm39)	S332C	probably damaging	Het
Card19	T	A	13: 49,358,760 (GRCm39)	Q71L	probably benign	Het
Ccdc12	T	C	9: 110,485,662 (GRCm39)	L11P	probably damaging	Het
Cdadc1	A	G	14: 59,813,307 (GRCm39)	Y367H	probably damaging	Het
Cdc5l	G	T	17: 45,719,288 (GRCm39)	Q542K	possibly damaging	Het
Ceacam23	T	G	7: 17,649,516 (GRCm39)		noncoding transcript	Het
Cep170	T	C	1: 176,584,211 (GRCm39)	K723E	possibly damaging	Het
Cep70	A	G	9: 99,145,773 (GRCm39)	I147V	probably benign	Het
Cfap58	A	T	19: 47,950,869 (GRCm39)	H410L	probably damaging	Het
Chat	T	C	14: 32,142,735 (GRCm39)	K418R	probably damaging	Het
Cic	T	G	7: 24,971,032 (GRCm39)	D254E	probably damaging	Het
Ckap4	T	C	10: 84,363,431 (GRCm39)	E544G	probably damaging	Het
Crnkl1	C	T	2: 145,763,739 (GRCm39)	A500T	probably damaging	Het
Cyp2c38	T	C	19: 39,380,632 (GRCm39)	N418D	probably damaging	Het
Daam1	A	T	12: 71,990,916 (GRCm39)	I177L	unknown	Het
Dnah1	T	C	14: 30,990,738 (GRCm39)		probably benign	Het
Ercc5	A	G	1: 44,219,784 (GRCm39)	T1019A	probably damaging	Het
F13b	T	A	1: 139,435,374 (GRCm39)	V173E	probably damaging	Het
Fam135b	A	G	15: 71,493,845 (GRCm39)		probably benign	Het
Fam20a	A	C	11: 109,568,143 (GRCm39)	F316V	probably damaging	Het
Flrt2	T	C	12: 95,746,112 (GRCm39)	V150A	probably damaging	Het
Fnta	A	C	8: 26,489,599 (GRCm39)		probably null	Het
Ghsr	A	G	3: 27,426,025 (GRCm39)	D27G	probably benign	Het
Glis3	G	T	19: 28,239,918 (GRCm39)		probably benign	Het
Gtpbp1	A	G	15: 79,592,086 (GRCm39)	N96D	probably damaging	Het
H1f7	A	T	15: 98,154,454 (GRCm39)	W232R	unknown	Het
Hycc1	A	G	5: 24,190,730 (GRCm39)		probably benign	Het
Ibtk	A	T	9: 85,606,198 (GRCm39)	I443N	probably damaging	Het
Ifi207	T	C	1: 173,552,513 (GRCm39)	H968R	probably damaging	Het
Ifit2	A	G	19: 34,550,586 (GRCm39)	D42G	probably null	Het
Il17rc	A	T	6: 113,455,950 (GRCm39)	D265V	probably damaging	Het
Ints10	G	A	8: 69,260,296 (GRCm39)		probably benign	Het
Itfg2	T	C	6: 128,401,691 (GRCm39)	D29G	probably damaging	Het
Itprid1	A	G	6: 55,952,649 (GRCm39)	H864R	probably damaging	Het
Kcng3	A	T	17: 83,938,492 (GRCm39)	C186S	probably damaging	Het
Lrrc1	A	G	9: 77,349,547 (GRCm39)	F295L	probably benign	Het
Mrps28	T	A	3: 8,965,184 (GRCm39)	H85L	possibly damaging	Het
Mtpn	T	A	6: 35,499,693 (GRCm39)	K37M	possibly damaging	Het
Mug1	C	T	6: 121,859,588 (GRCm39)	H1196Y	probably benign	Het
Mup4	T	C	4: 59,960,084 (GRCm39)	H60R	possibly damaging	Het
Musk	A	G	4: 58,286,204 (GRCm39)		probably benign	Het
Mybl2	T	C	2: 162,914,628 (GRCm39)	S249P	probably benign	Het
Naip6	A	G	13: 100,436,748 (GRCm39)	Y592H	possibly damaging	Het
Nrp1	A	G	8: 129,229,279 (GRCm39)	N919S	probably benign	Het
Nudt9	C	T	5: 104,212,904 (GRCm39)	Q326*	probably null	Het
Or5w13	A	T	2: 87,523,720 (GRCm39)	C169S	probably damaging	Het
Or6c76b	A	G	10: 129,693,100 (GRCm39)	T238A	probably damaging	Het
Or7g17	T	A	9: 18,768,407 (GRCm39)	M162K	probably benign	Het
Or9k7	T	A	10: 130,046,592 (GRCm39)	I136F	probably benign	Het
Pcsk4	T	C	10: 80,161,815 (GRCm39)	E142G	probably damaging	Het
Pde3a	C	A	6: 141,405,560 (GRCm39)	P471T	probably benign	Het
Pign	A	T	1: 105,512,727 (GRCm39)	V652E	possibly damaging	Het
Prkcb	T	A	7: 122,181,672 (GRCm39)	M420K	probably damaging	Het
Prr14	T	A	7: 127,073,160 (GRCm39)		probably null	Het
Rchy1	T	A	5: 92,105,741 (GRCm39)	Q69L	probably damaging	Het
Sccpdh	A	C	1: 179,509,125 (GRCm39)		probably benign	Het
Sec23ip	T	G	7: 128,367,862 (GRCm39)	S625A	probably benign	Het
Smpdl3b	A	G	4: 132,473,925 (GRCm39)	S47P	probably damaging	Het
Speer4a3	T	A	5: 26,156,623 (GRCm39)	I119F	possibly damaging	Het
Stil	G	A	4: 114,881,161 (GRCm39)	M568I	probably benign	Het
Syt3	T	A	7: 44,045,434 (GRCm39)	V558E	probably damaging	Het
Sytl3	A	G	17: 6,973,430 (GRCm39)		probably benign	Het
Szt2	A	G	4: 118,231,164 (GRCm39)	V2533A	unknown	Het
Tenm4	A	G	7: 96,353,360 (GRCm39)	Y384C	probably damaging	Het
Tfam	T	C	10: 71,071,380 (GRCm39)	E94G	probably damaging	Het
Tmbim7	A	G	5: 3,714,304 (GRCm39)	T14A	probably damaging	Het
Tmtc2	A	T	10: 105,409,566 (GRCm39)	Y15*	probably null	Het
Uhrf1	C	T	17: 56,625,035 (GRCm39)	A526V	probably damaging	Het
Vmn2r67	T	C	7: 84,805,046 (GRCm39)	D22G	probably benign	Het
Vmn2r96	A	G	17: 18,817,660 (GRCm39)	I412M	possibly damaging	Het
Vmn2r-ps69	T	A	7: 84,959,560 (GRCm39)		noncoding transcript	Het
Wdr17	A	T	8: 55,123,363 (GRCm39)	I479K	probably damaging	Het
Wt1	T	C	2: 104,997,176 (GRCm39)	V371A	probably damaging	Het
Zfp536	G	T	7: 37,178,735 (GRCm39)	S226Y	probably damaging	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
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
R9665:Zfp827	UTSW	8	79,906,756 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TTGCCATCAGCACTTCCTGAGGAC -3'
(R):5'- TTTCCAGACCCAAGCAGAAGTAACG -3'

Sequencing Primer
(F):5'- ACTTCCTGAGGACAGAGGC -3'
(R):5'- CAAGCAGAAGTAACGCTTATTTCC -3'

Posted On

2014-05-09