Mutagenetix > Incidental Mutation

Incidental Mutation 'R1638:Zfp827'

173308

Institutional Source

Beutler Lab

Gene Symbol

Zfp827

Ensembl Gene

ENSMUSG00000071064

Gene Name

zinc finger protein 827

Synonyms

D630040G17Rik, 2810449M09Rik

MMRRC Submission

039674-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R1638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79755066-79920395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 79802975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 516 (P516T)

Ref Sequence

ENSEMBL: ENSMUSP00000096214 (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

possibly damaging
Transcript: ENSMUST00000098614
AA Change: P516T

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096214
Gene: ENSMUSG00000071064
AA Change: P516T

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

possibly damaging
Transcript: ENSMUST00000119254
AA Change: P516T

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113199
Gene: ENSMUSG00000071064
AA Change: P516T

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

0.0926

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.9%
20x: 87.8%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Adamts13	A	G	2: 26,886,595 (GRCm39)	E938G	possibly damaging	Het
Agfg1	A	T	1: 82,871,259 (GRCm39)	Q497L	probably damaging	Het
Ahnak	A	G	19: 8,986,813 (GRCm39)	H2699R	probably benign	Het
Antxrl	G	T	14: 33,792,453 (GRCm39)		probably null	Het
Apol7c	A	T	15: 77,410,418 (GRCm39)	V176E	probably damaging	Het
Arid5b	T	C	10: 68,113,777 (GRCm39)	N87D	possibly damaging	Het
Atp2c1	A	T	9: 105,309,897 (GRCm39)	I560N	probably damaging	Het
Atp2c2	T	C	8: 120,482,742 (GRCm39)	F868S	possibly damaging	Het
Blnk	G	C	19: 40,926,122 (GRCm39)	F326L	probably benign	Het
Bltp1	C	T	3: 37,089,961 (GRCm39)	R4130*	probably null	Het
Ckap2	C	T	8: 22,665,812 (GRCm39)	V412I	possibly damaging	Het
Clmn	A	G	12: 104,748,281 (GRCm39)	V422A	probably benign	Het
Ctnnal1	A	G	4: 56,813,856 (GRCm39)	S638P	probably benign	Het
Cyp2j5	T	C	4: 96,524,052 (GRCm39)	S327G	probably benign	Het
Dhx38	G	A	8: 110,280,177 (GRCm39)	T871M	probably damaging	Het
Dmxl1	A	T	18: 50,023,834 (GRCm39)	K1706*	probably null	Het
Dnah11	A	G	12: 117,979,154 (GRCm39)	L2648P	possibly damaging	Het
Elf2	G	A	3: 51,215,530 (GRCm39)	T60I	probably damaging	Het
Fam120b	T	A	17: 15,622,759 (GRCm39)	C246S	possibly damaging	Het
Fcho2	G	T	13: 98,882,403 (GRCm39)	T451K	possibly damaging	Het
Fzd9	T	A	5: 135,278,602 (GRCm39)	I428F	probably damaging	Het
Galnt13	T	A	2: 54,744,667 (GRCm39)	V122E	probably damaging	Het
Gm21738	T	A	14: 19,418,908 (GRCm38)	Y8F	probably benign	Het
Gnptab	A	G	10: 88,272,029 (GRCm39)	I940V	possibly damaging	Het
Gp2	A	G	7: 119,050,721 (GRCm39)		probably null	Het
Gpr6	A	G	10: 40,946,530 (GRCm39)	S351P	probably benign	Het
Gprin1	T	C	13: 54,887,689 (GRCm39)	E195G	possibly damaging	Het
Grm8	A	T	6: 28,125,882 (GRCm39)	Y81*	probably null	Het
Gtf3c3	A	T	1: 54,444,278 (GRCm39)	N703K	probably damaging	Het
Hhipl2	G	A	1: 183,208,921 (GRCm39)	V495I	probably benign	Het
Islr	G	A	9: 58,065,502 (GRCm39)		probably benign	Het
Lrrc36	T	C	8: 106,176,273 (GRCm39)	Y216H	possibly damaging	Het
Macroh2a1	T	A	13: 56,252,722 (GRCm39)	N87Y	probably damaging	Het
Me2	A	G	18: 73,906,205 (GRCm39)	I528T	probably benign	Het
Mecr	A	T	4: 131,585,127 (GRCm39)	I156F	possibly damaging	Het
Megf6	A	G	4: 154,346,967 (GRCm39)		probably benign	Het
Mn1	T	A	5: 111,569,435 (GRCm39)	L1135H	probably damaging	Het
Naip5	A	G	13: 100,349,177 (GRCm39)	S1384P	probably damaging	Het
Nav2	A	G	7: 49,102,213 (GRCm39)	N337S	probably benign	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Neb	A	T	2: 52,139,293 (GRCm39)	H3107Q	probably benign	Het
Nebl	A	G	2: 17,381,462 (GRCm39)	V738A	possibly damaging	Het
Nsd2	G	A	5: 34,039,464 (GRCm39)	R825Q	possibly damaging	Het
Nsun2	A	G	13: 69,775,705 (GRCm39)	N383S	probably damaging	Het
Ntrk3	A	T	7: 77,897,036 (GRCm39)	M667K	probably damaging	Het
Or10a48	A	C	7: 108,424,442 (GRCm39)	C255G	probably benign	Het
Or11h6	G	A	14: 50,880,565 (GRCm39)	V276M	possibly damaging	Het
Or1e29	A	G	11: 73,667,974 (GRCm39)	Y60H	possibly damaging	Het
Or6c2	A	T	10: 129,362,488 (GRCm39)	M131L	probably benign	Het
Pex6	T	C	17: 47,033,558 (GRCm39)	V633A	probably benign	Het
Phactr1	C	T	13: 43,110,147 (GRCm39)	T95M	probably damaging	Het
Pik3r4	A	G	9: 105,564,408 (GRCm39)	D1334G	probably damaging	Het
Pkhd1l1	A	C	15: 44,460,513 (GRCm39)	I4241L	probably benign	Het
Ppwd1	T	C	13: 104,356,771 (GRCm39)	E248G	probably damaging	Het
Prepl	A	C	17: 85,379,509 (GRCm39)	M393R	probably benign	Het
Ptpn6	T	C	6: 124,698,148 (GRCm39)	S532G	probably benign	Het
Rnase11	G	T	14: 51,287,058 (GRCm39)	H165Q	possibly damaging	Het
Sf1	A	G	19: 6,422,090 (GRCm39)	N172S	possibly damaging	Het
Shprh	T	A	10: 11,032,822 (GRCm39)	D269E	probably benign	Het
Slc16a1	T	C	3: 104,556,798 (GRCm39)	I61T	possibly damaging	Het
Slc38a2	A	C	15: 96,590,417 (GRCm39)	I309S	probably damaging	Het
Sry	C	G	Y: 2,663,149 (GRCm39)	Q170H	unknown	Het
Stk3	A	C	15: 35,008,454 (GRCm39)		probably null	Het
Tg	C	A	15: 66,568,015 (GRCm39)	C1306*	probably null	Het
Tnik	A	G	3: 28,719,889 (GRCm39)	M1254V	probably damaging	Het
U2surp	T	C	9: 95,366,280 (GRCm39)	E474G	possibly damaging	Het
Vmn1r224	T	A	17: 20,639,587 (GRCm39)	F55I	probably benign	Het
Vmn1r32	A	G	6: 66,529,939 (GRCm39)	I279T	possibly damaging	Het
Zc2hc1a	A	G	3: 7,581,543 (GRCm39)	D15G	probably benign	Het
Zfyve9	A	T	4: 108,542,104 (GRCm39)		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
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'- ATGCGTTGCCATCAGCACTTCC -3'
(R):5'- CCCTAAGCAAGTACCTGACAGCTTC -3'

Sequencing Primer
(F):5'- TCAGCACTTCCTGAGGACAG -3'
(R):5'- TCATGAGAAAATCGGAGGCCATC -3'

Posted On

2014-04-24