Mutagenetix > Incidental Mutation

Incidental Mutation 'R9339:Zfp827'

707384

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 #

R9339 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79755066-79920395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79844887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 686 (S686P)

Ref Sequence

ENSEMBL: ENSMUSP00000096214 (fasta)

Gene Model

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

AlphaFold

Q505G8

Predicted Effect

probably benign
Transcript: ENSMUST00000098614
AA Change: S686P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000096214
Gene: ENSMUSG00000071064
AA Change: S686P

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: S686P

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113199
Gene: ENSMUSG00000071064
AA Change: S686P

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

probably benign
Transcript: ENSMUST00000145827

SMART Domains

Protein: ENSMUSP00000114208
Gene: ENSMUSG00000071064

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

probably benign
Transcript: ENSMUST00000148713

SMART Domains

Protein: ENSMUSP00000120913
Gene: ENSMUSG00000071064

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

Meta Mutation Damage Score

0.1554

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,667,521 (GRCm39)	E304G	unknown	Het
4933436I01Rik	T	A	X: 66,964,689 (GRCm39)	K57*	probably null	Het
Aar2	T	C	2: 156,392,893 (GRCm39)	V94A	probably benign	Het
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adam25	T	C	8: 41,206,911 (GRCm39)	V59A	probably damaging	Het
Ampd2	T	C	3: 107,987,616 (GRCm39)	D103G	probably damaging	Het
Ankrd12	A	G	17: 66,291,408 (GRCm39)	S1342P	probably benign	Het
Atp13a2	A	G	4: 140,730,571 (GRCm39)	T739A	probably benign	Het
Catsperg1	T	A	7: 28,894,885 (GRCm39)	N571Y	probably benign	Het
Cela3b	A	G	4: 137,152,355 (GRCm39)	I74T	probably damaging	Het
Cfhr1	A	G	1: 139,485,293 (GRCm39)	L51P	probably benign	Het
Cfhr4	T	A	1: 139,682,044 (GRCm39)	Y184F	probably benign	Het
Ckap5	T	A	2: 91,396,100 (GRCm39)	D534E	probably benign	Het
Cstf3	C	T	2: 104,493,778 (GRCm39)	P594L	probably damaging	Het
Ctdp1	A	G	18: 80,492,689 (GRCm39)	L602P	probably damaging	Het
Defa24	A	G	8: 22,224,559 (GRCm39)	T3A	probably damaging	Het
Dmgdh	A	G	13: 93,847,941 (GRCm39)	H546R	probably benign	Het
Dscam	A	G	16: 96,517,263 (GRCm39)	V882A	possibly damaging	Het
Dydc2	A	G	14: 40,771,260 (GRCm39)	*140Q	probably null	Het
Ehd4	T	C	2: 119,921,708 (GRCm39)	D516G	possibly damaging	Het
En1	T	C	1: 120,534,893 (GRCm39)	V394A	unknown	Het
Erich3	T	G	3: 154,468,872 (GRCm39)	L1108R	unknown	Het
Erp27	A	G	6: 136,896,945 (GRCm39)	S86P	probably benign	Het
Esr1	A	C	10: 4,696,798 (GRCm39)	S216R	probably damaging	Het
Fbxo40	A	T	16: 36,789,286 (GRCm39)	I608N	probably damaging	Het
Fcna	G	A	2: 25,517,782 (GRCm39)	Q23*	probably null	Het
Foxn4	C	T	5: 114,394,955 (GRCm39)	R324Q	probably benign	Het
Gata6	A	G	18: 11,054,520 (GRCm39)	T150A	probably damaging	Het
Gbp2b	T	A	3: 142,317,178 (GRCm39)	H511Q	probably benign	Het
Gpr171	C	A	3: 59,005,362 (GRCm39)	V138L	probably damaging	Het
Grhl2	G	A	15: 37,344,904 (GRCm39)	V509I	probably benign	Het
Gzmd	G	A	14: 56,367,869 (GRCm39)	P135S	probably damaging	Het
Hhatl	C	A	9: 121,618,862 (GRCm39)	C90F	probably benign	Het
Hspg2	A	G	4: 137,278,480 (GRCm39)	K3050R	probably benign	Het
Kcnh3	T	C	15: 99,130,786 (GRCm39)	Y468H	probably damaging	Het
Lhfpl6	A	G	3: 52,950,891 (GRCm39)	H55R	probably benign	Het
Lpgat1	T	C	1: 191,451,488 (GRCm39)	V38A	probably benign	Het
Lrrc49	A	G	9: 60,510,031 (GRCm39)	I479T	probably benign	Het
Map1b	A	T	13: 99,567,570 (GRCm39)	I1717N	unknown	Het
Map3k20	G	T	2: 72,272,216 (GRCm39)	R781S	possibly damaging	Het
Mcm3ap	A	G	10: 76,306,358 (GRCm39)	E157G	probably benign	Het
Mylk2	A	G	2: 152,755,370 (GRCm39)	E178G	probably damaging	Het
Naaladl2	A	G	3: 24,057,146 (GRCm39)	L605P	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nt5el	C	T	13: 105,246,114 (GRCm39)	T225I	probably benign	Het
Or10h28	T	C	17: 33,488,631 (GRCm39)	V311A	probably benign	Het
Or4a76	T	C	2: 89,460,555 (GRCm39)	E229G	probably damaging	Het
Padi3	A	T	4: 140,522,928 (GRCm39)	I348N	probably benign	Het
Pcdh18	T	C	3: 49,709,335 (GRCm39)	D660G	probably damaging	Het
Pdgfra	T	A	5: 75,355,635 (GRCm39)	S1048R	probably damaging	Het
Pkhd1l1	T	C	15: 44,452,949 (GRCm39)	V3958A	probably damaging	Het
Ppargc1b	C	A	18: 61,456,267 (GRCm39)	C80F	probably damaging	Het
Rbm28	T	C	6: 29,128,674 (GRCm39)	E590G	probably benign	Het
Rbm47	T	C	5: 66,183,826 (GRCm39)	E259G	possibly damaging	Het
Rint1	A	G	5: 23,993,355 (GRCm39)	*37W	probably null	Het
Sacs	G	A	14: 61,443,309 (GRCm39)	R1785Q	probably benign	Het
Samm50	T	C	15: 84,095,276 (GRCm39)	C421R	probably benign	Het
Scnn1b	G	T	7: 121,511,254 (GRCm39)	A314S	probably damaging	Het
Sf3b3	C	A	8: 111,542,854 (GRCm39)	V868L	probably benign	Het
Sirt5	G	T	13: 43,530,327 (GRCm39)	V136L	probably benign	Het
Slc1a7	T	C	4: 107,850,237 (GRCm39)	V116A	probably damaging	Het
Slc24a4	G	A	12: 102,230,638 (GRCm39)	V510M	probably damaging	Het
Slc35f5	T	C	1: 125,517,628 (GRCm39)	I116T	probably benign	Het
Spata4	T	C	8: 55,053,899 (GRCm39)	S22P	probably benign	Het
Sqstm1	A	G	11: 50,091,725 (GRCm39)	V324A	probably benign	Het
Stmnd1	G	A	13: 46,453,079 (GRCm39)	A252T	probably benign	Het
Tbl1xr1	C	A	3: 22,258,150 (GRCm39)	N470K	possibly damaging	Het
Thap12	T	C	7: 98,364,323 (GRCm39)	S164P	possibly damaging	Het
Thsd1	A	G	8: 22,733,898 (GRCm39)	Y315C	probably damaging	Het
Tnni2	C	A	7: 141,997,672 (GRCm39)	D102E	probably damaging	Het
Trav7n-4	A	C	14: 53,328,849 (GRCm39)	N16T	probably benign	Het
Trpm7	T	C	2: 126,665,906 (GRCm39)	K900R	probably benign	Het
Tspoap1	T	A	11: 87,668,839 (GRCm39)	C1371S	probably benign	Het
Tssk5	A	G	15: 76,257,156 (GRCm39)	M242T	possibly damaging	Het
Ubn2	A	G	6: 38,460,079 (GRCm39)	I607V	probably benign	Het
Ubr2	A	T	17: 47,284,865 (GRCm39)	V551E	probably benign	Het
Vipr2	A	G	12: 116,058,344 (GRCm39)	N87S	probably damaging	Het
Vmn2r18	T	A	5: 151,485,132 (GRCm39)	K787N	probably damaging	Het
Wwc2	A	T	8: 48,353,859 (GRCm39)	W92R	probably damaging	Het
Zfp141	A	G	7: 42,125,639 (GRCm39)	Y278H	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
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
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'- GTTCAAGTCCCAGTGCAACG -3'
(R):5'- AAAGACTTTCCTACCAATGCTTTCC -3'

Sequencing Primer
(F):5'- TCCCAGTGCAACGGAAAG -3'
(R):5'- ACCAATGCTTTCCAGTCAGC -3'

Posted On

2022-04-18