Mutagenetix > Incidental Mutation

Incidental Mutation 'R6306:Zfp827'

509663

Institutional Source

Beutler Lab

Gene Symbol

Zfp827

Ensembl Gene

ENSMUSG00000071064

Gene Name

zinc finger protein 827

Synonyms

D630040G17Rik, 2810449M09Rik

MMRRC Submission

044468-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R6306 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79755066-79920395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79787324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 163 (Q163H)

Ref Sequence

ENSEMBL: ENSMUSP00000113199 (fasta)

Gene Model

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

AlphaFold

Q505G8

Predicted Effect

probably damaging
Transcript: ENSMUST00000087927
AA Change: Q163H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000085238
Gene: ENSMUSG00000071064
AA Change: Q163H

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 damaging
Transcript: ENSMUST00000098614
AA Change: Q163H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096214
Gene: ENSMUSG00000071064
AA Change: Q163H

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: Q163H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113199
Gene: ENSMUSG00000071064
AA Change: Q163H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (88/88)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	A	9: 90,060,331 (GRCm39)		probably null	Het
Adora2a	T	A	10: 75,169,238 (GRCm39)	V234E	probably damaging	Het
Alpk1	T	C	3: 127,479,965 (GRCm39)	D188G	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Ankrd17	A	G	5: 90,392,013 (GRCm39)	F1886L	probably benign	Het
Anks1	T	G	17: 28,269,613 (GRCm39)	L769R	probably damaging	Het
Apol10a	A	G	15: 77,373,161 (GRCm39)	I266V	probably benign	Het
Arhgef28	T	C	13: 98,121,896 (GRCm39)	Y556C	probably damaging	Het
Brd8	T	A	18: 34,744,304 (GRCm39)	T175S	probably damaging	Het
Camsap2	C	T	1: 136,208,937 (GRCm39)	V852I	probably benign	Het
Cd55b	G	T	1: 130,341,803 (GRCm39)	P278Q	probably damaging	Het
Cep290	T	A	10: 100,367,028 (GRCm39)	S1126R	possibly damaging	Het
Cfh	C	T	1: 140,030,155 (GRCm39)	C906Y	probably damaging	Het
Chst13	C	A	6: 90,286,260 (GRCm39)	R234L	probably damaging	Het
Clcn7	T	C	17: 25,376,502 (GRCm39)	F611L	probably benign	Het
Cntnap1	A	G	11: 101,075,441 (GRCm39)	D873G	probably damaging	Het
Cntnap5b	T	C	1: 100,091,871 (GRCm39)	I518T	probably damaging	Het
Col28a1	T	C	6: 8,014,969 (GRCm39)	E812G	probably damaging	Het
Cpa1	T	C	6: 30,640,953 (GRCm39)	I148T	probably damaging	Het
Cyp11a1	A	G	9: 57,932,383 (GRCm39)	N232S	probably benign	Het
Dhrs13	A	G	11: 77,923,519 (GRCm39)	D79G	probably damaging	Het
Disp1	T	C	1: 182,868,712 (GRCm39)	E1236G	possibly damaging	Het
Dnah1	A	C	14: 31,026,544 (GRCm39)	L778R	probably damaging	Het
Dnah14	CTGTG	CTG	1: 181,412,589 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dock9	A	T	14: 121,799,492 (GRCm39)	I1729N	probably damaging	Het
Dysf	T	C	6: 84,114,248 (GRCm39)	V1192A	possibly damaging	Het
Enpp2	A	G	15: 54,762,742 (GRCm39)	S169P	probably damaging	Het
Fam114a2	T	G	11: 57,404,972 (GRCm39)	R43S	probably damaging	Het
Fam13a	T	C	6: 58,917,239 (GRCm39)	T546A	probably benign	Het
Fos	A	T	12: 85,522,460 (GRCm39)	D163V	probably damaging	Het
Fras1	T	C	5: 96,912,805 (GRCm39)	Y3370H	probably damaging	Het
Fshr	T	C	17: 89,507,961 (GRCm39)	N27S	probably null	Het
Galnt6	A	G	15: 100,591,305 (GRCm39)	S600P	possibly damaging	Het
Gars1	T	A	6: 55,032,809 (GRCm39)	N260K	probably damaging	Het
Gpr158	C	G	2: 21,820,422 (GRCm39)	P640A	possibly damaging	Het
Grep1	T	C	17: 23,925,124 (GRCm39)	N495S	possibly damaging	Het
Grik3	A	G	4: 125,526,205 (GRCm39)	D146G	probably benign	Het
Hdac4	T	C	1: 91,923,896 (GRCm39)	T205A	probably benign	Het
Kcnq3	T	C	15: 65,876,643 (GRCm39)	D500G	probably benign	Het
Kmt5c	A	G	7: 4,749,480 (GRCm39)	K333E	probably benign	Het
Krt81	A	G	15: 101,357,404 (GRCm39)	S443P	probably benign	Het
M6pr	T	C	6: 122,292,121 (GRCm39)		probably null	Het
Mccc2	T	A	13: 100,130,085 (GRCm39)	I91L	probably benign	Het
Nip7	A	G	8: 107,785,055 (GRCm39)	D110G	probably damaging	Het
Nol8	T	A	13: 49,829,829 (GRCm39)	F1093I	probably damaging	Het
Nrxn1	T	C	17: 90,872,874 (GRCm39)	T1027A	possibly damaging	Het
Ofcc1	T	A	13: 40,302,052 (GRCm39)	M495L	probably benign	Het
Or13p10	A	T	4: 118,523,490 (GRCm39)	M259L	probably benign	Het
Or7e178	A	G	9: 20,225,742 (GRCm39)	M158T	probably benign	Het
Pafah1b2	A	T	9: 45,886,425 (GRCm39)	V81D	probably damaging	Het
Pcdhga4	A	T	18: 37,818,966 (GRCm39)	S172C	probably damaging	Het
Pds5a	A	G	5: 65,813,639 (GRCm39)	V282A	probably damaging	Het
Plat	A	G	8: 23,262,282 (GRCm39)	D102G	possibly damaging	Het
Plce1	C	A	19: 38,757,909 (GRCm39)	Q1961K	probably damaging	Het
Plppr3	T	A	10: 79,697,566 (GRCm39)	K444*	probably null	Het
Plscr3	A	G	11: 69,738,472 (GRCm39)		probably null	Het
Prtg	A	T	9: 72,813,468 (GRCm39)	T943S	probably benign	Het
Racgap1	A	G	15: 99,521,834 (GRCm39)	F519L	probably benign	Het
Rbms2	A	T	10: 127,987,050 (GRCm39)		probably null	Het
Rfx7	A	G	9: 72,524,237 (GRCm39)	T476A	possibly damaging	Het
Rnf150	T	A	8: 83,810,131 (GRCm39)	L421Q	possibly damaging	Het
Sema3b	A	G	9: 107,478,119 (GRCm39)	L422P	possibly damaging	Het
Shank2	G	A	7: 143,963,417 (GRCm39)	A921T	probably benign	Het
Skint3	A	T	4: 112,113,072 (GRCm39)	E227D	probably damaging	Het
Slc25a19	G	A	11: 115,508,386 (GRCm39)	R201C	possibly damaging	Het
Slc38a10	G	T	11: 120,038,645 (GRCm39)	A40D	probably damaging	Het
Slc5a4b	T	C	10: 75,917,185 (GRCm39)	T284A	probably benign	Het
Smc1b	A	T	15: 85,011,824 (GRCm39)	F154I	probably benign	Het
Spry2	A	T	14: 106,130,418 (GRCm39)	M256K	possibly damaging	Het
Stkld1	C	T	2: 26,833,899 (GRCm39)	P129S	probably damaging	Het
Syce2	T	C	8: 85,599,371 (GRCm39)	L13S	possibly damaging	Het
Tbc1d15	C	A	10: 115,069,148 (GRCm39)	V74L	possibly damaging	Het
Tecpr2	T	A	12: 110,911,185 (GRCm39)	V1074D	probably damaging	Het
Tex36	G	A	7: 133,197,054 (GRCm39)	T21I	probably benign	Het
Ttn	T	G	2: 76,554,454 (GRCm39)	D30787A	probably damaging	Het
Ttn	T	A	2: 76,622,264 (GRCm39)	Q13710L	probably benign	Het
Usp34	T	C	11: 23,362,260 (GRCm39)	F1569L	possibly damaging	Het
Vat1l	C	T	8: 115,098,391 (GRCm39)	A387V	probably damaging	Het
Vil1	G	A	1: 74,460,470 (GRCm39)	G209D	possibly damaging	Het
Vmn1r113	G	T	7: 20,521,792 (GRCm39)	D195Y	probably damaging	Het
Vmn2r69	A	C	7: 85,064,799 (GRCm39)	I29R	probably benign	Het
Vti1b	G	A	12: 79,207,323 (GRCm39)	Q76*	probably null	Het
Zfp423	C	A	8: 88,508,662 (GRCm39)	V540F	possibly damaging	Het
Zfp644	T	C	5: 106,785,990 (GRCm39)	N186D	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp787	G	A	7: 6,135,360 (GRCm39)	A297V	probably damaging	Het
Zfp955b	T	A	17: 33,522,160 (GRCm39)	V543E	probably benign	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
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'- GTCAAGGTCACCTTTCACCC -3'
(R):5'- GTCCGGGACAGAGATTTGTC -3'

Sequencing Primer
(F):5'- ACCCGGAGTGTCCTCTGTG -3'
(R):5'- TGTCCTGCAGAACAGCATTG -3'

Posted On

2018-04-02