Mutagenetix > Incidental Mutation

Incidental Mutation 'R4084:Zfp27'

317021

Institutional Source

Beutler Lab

Gene Symbol

Zfp27

Ensembl Gene

ENSMUSG00000062040

Gene Name

zinc finger protein 27

Synonyms

Zfp-27, mkr-4

MMRRC Submission

040857-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.602) question?

Stock #

R4084 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29592758-29605997 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29594792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 391 (R391H)

Ref Sequence

ENSEMBL: ENSMUSP00000127677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053521] [ENSMUST00000159920] [ENSMUST00000161904] [ENSMUST00000162592] [ENSMUST00000172448]

AlphaFold

P10077

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053521
AA Change: R391H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054012
Gene: ENSMUSG00000062040
AA Change: R391H

Domain	Start	End	E-Value	Type
KRAB	1	59	2.94e-12	SMART
internal_repeat_2	108	195	4.1e-6	PROSPERO
ZnF_C2H2	205	227	3.11e-2	SMART
ZnF_C2H2	233	255	8.47e-4	SMART
ZnF_C2H2	261	283	2.09e-3	SMART
ZnF_C2H2	289	311	2.91e-2	SMART
ZnF_C2H2	317	339	4.17e-3	SMART
ZnF_C2H2	345	367	4.79e-3	SMART
ZnF_C2H2	401	423	7.15e-2	SMART
ZnF_C2H2	429	451	3.69e-4	SMART
ZnF_C2H2	457	479	1.08e-1	SMART
ZnF_C2H2	485	507	2.57e-3	SMART
ZnF_C2H2	513	535	1.5e-4	SMART
ZnF_C2H2	541	563	1.38e-3	SMART
ZnF_C2H2	569	591	1.03e-2	SMART
ZnF_C2H2	597	619	3.34e-2	SMART
ZnF_C2H2	625	647	8.34e-3	SMART
ZnF_C2H2	653	675	2.36e-2	SMART
ZnF_C2H2	681	703	6.88e-4	SMART
ZnF_C2H2	709	731	2.27e-4	SMART
ZnF_C2H2	737	759	6.88e-4	SMART
ZnF_C2H2	765	787	1.72e-4	SMART
ZnF_C2H2	793	815	3.83e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159920
AA Change: R391H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125232
Gene: ENSMUSG00000062040
AA Change: R391H

Domain	Start	End	E-Value	Type
KRAB	1	59	2.94e-12	SMART
internal_repeat_2	108	195	4.1e-6	PROSPERO
ZnF_C2H2	205	227	3.11e-2	SMART
ZnF_C2H2	233	255	8.47e-4	SMART
ZnF_C2H2	261	283	2.09e-3	SMART
ZnF_C2H2	289	311	2.91e-2	SMART
ZnF_C2H2	317	339	4.17e-3	SMART
ZnF_C2H2	345	367	4.79e-3	SMART
ZnF_C2H2	401	423	7.15e-2	SMART
ZnF_C2H2	429	451	3.69e-4	SMART
ZnF_C2H2	457	479	1.08e-1	SMART
ZnF_C2H2	485	507	2.57e-3	SMART
ZnF_C2H2	513	535	1.5e-4	SMART
ZnF_C2H2	541	563	1.38e-3	SMART
ZnF_C2H2	569	591	1.03e-2	SMART
ZnF_C2H2	597	619	3.34e-2	SMART
ZnF_C2H2	625	647	8.34e-3	SMART
ZnF_C2H2	653	675	2.36e-2	SMART
ZnF_C2H2	681	703	6.88e-4	SMART
ZnF_C2H2	709	731	2.27e-4	SMART
ZnF_C2H2	737	759	6.88e-4	SMART
ZnF_C2H2	765	787	1.72e-4	SMART
ZnF_C2H2	793	815	3.83e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160411

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161904
AA Change: R391H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124684
Gene: ENSMUSG00000062040
AA Change: R391H

Domain	Start	End	E-Value	Type
KRAB	1	59	2.94e-12	SMART
internal_repeat_2	108	195	4.1e-6	PROSPERO
ZnF_C2H2	205	227	3.11e-2	SMART
ZnF_C2H2	233	255	8.47e-4	SMART
ZnF_C2H2	261	283	2.09e-3	SMART
ZnF_C2H2	289	311	2.91e-2	SMART
ZnF_C2H2	317	339	4.17e-3	SMART
ZnF_C2H2	345	367	4.79e-3	SMART
ZnF_C2H2	401	423	7.15e-2	SMART
ZnF_C2H2	429	451	3.69e-4	SMART
ZnF_C2H2	457	479	1.08e-1	SMART
ZnF_C2H2	485	507	2.57e-3	SMART
ZnF_C2H2	513	535	1.5e-4	SMART
ZnF_C2H2	541	563	1.38e-3	SMART
ZnF_C2H2	569	591	1.03e-2	SMART
ZnF_C2H2	597	619	3.34e-2	SMART
ZnF_C2H2	625	647	8.34e-3	SMART
ZnF_C2H2	653	675	2.36e-2	SMART
ZnF_C2H2	681	703	6.88e-4	SMART
ZnF_C2H2	709	731	2.27e-4	SMART
ZnF_C2H2	737	759	6.88e-4	SMART
ZnF_C2H2	765	787	1.72e-4	SMART
ZnF_C2H2	793	815	3.83e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162592
AA Change: R391H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123953
Gene: ENSMUSG00000062040
AA Change: R391H

Domain	Start	End	E-Value	Type
KRAB	1	59	2.94e-12	SMART
internal_repeat_2	108	195	4.1e-6	PROSPERO
ZnF_C2H2	205	227	3.11e-2	SMART
ZnF_C2H2	233	255	8.47e-4	SMART
ZnF_C2H2	261	283	2.09e-3	SMART
ZnF_C2H2	289	311	2.91e-2	SMART
ZnF_C2H2	317	339	4.17e-3	SMART
ZnF_C2H2	345	367	4.79e-3	SMART
ZnF_C2H2	401	423	7.15e-2	SMART
ZnF_C2H2	429	451	3.69e-4	SMART
ZnF_C2H2	457	479	1.08e-1	SMART
ZnF_C2H2	485	507	2.57e-3	SMART
ZnF_C2H2	513	535	1.5e-4	SMART
ZnF_C2H2	541	563	1.38e-3	SMART
ZnF_C2H2	569	591	1.03e-2	SMART
ZnF_C2H2	597	619	3.34e-2	SMART
ZnF_C2H2	625	647	8.34e-3	SMART
ZnF_C2H2	653	675	2.36e-2	SMART
ZnF_C2H2	681	703	6.88e-4	SMART
ZnF_C2H2	709	731	2.27e-4	SMART
ZnF_C2H2	737	759	6.88e-4	SMART
ZnF_C2H2	765	787	1.72e-4	SMART
ZnF_C2H2	793	815	3.83e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172448
AA Change: R391H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127677
Gene: ENSMUSG00000062040
AA Change: R391H

Domain	Start	End	E-Value	Type
KRAB	1	59	2.94e-12	SMART
internal_repeat_2	108	195	4.1e-6	PROSPERO
ZnF_C2H2	205	227	3.11e-2	SMART
ZnF_C2H2	233	255	8.47e-4	SMART
ZnF_C2H2	261	283	2.09e-3	SMART
ZnF_C2H2	289	311	2.91e-2	SMART
ZnF_C2H2	317	339	4.17e-3	SMART
ZnF_C2H2	345	367	4.79e-3	SMART
ZnF_C2H2	401	423	7.15e-2	SMART
ZnF_C2H2	429	451	3.69e-4	SMART
ZnF_C2H2	457	479	1.08e-1	SMART
ZnF_C2H2	485	507	2.57e-3	SMART
ZnF_C2H2	513	535	1.5e-4	SMART
ZnF_C2H2	541	563	1.38e-3	SMART
ZnF_C2H2	569	591	1.03e-2	SMART
ZnF_C2H2	597	619	3.34e-2	SMART
ZnF_C2H2	625	647	8.34e-3	SMART
ZnF_C2H2	653	675	2.36e-2	SMART
ZnF_C2H2	681	703	6.88e-4	SMART
ZnF_C2H2	709	731	2.27e-4	SMART
ZnF_C2H2	737	759	6.88e-4	SMART
ZnF_C2H2	765	787	1.72e-4	SMART
ZnF_C2H2	793	815	3.83e-2	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl2	A	T	9: 102,601,884 (GRCm39)		probably null	Het
Arhgdig	T	C	17: 26,418,799 (GRCm39)	D114G	possibly damaging	Het
Btnl1	C	T	17: 34,600,133 (GRCm39)	T212I	possibly damaging	Het
Camkk1	C	T	11: 72,928,691 (GRCm39)	T410I	probably damaging	Het
Capn13	C	T	17: 73,644,444 (GRCm39)	G362R	probably benign	Het
Catsperd	A	G	17: 56,961,453 (GRCm39)	T392A	probably benign	Het
Ccdc180	A	G	4: 45,950,632 (GRCm39)	I1626V	probably benign	Het
Cdon	C	A	9: 35,389,427 (GRCm39)	T844K	probably damaging	Het
Col28a1	G	A	6: 8,013,131 (GRCm39)	Q974*	probably null	Het
Col28a1	C	G	6: 8,013,132 (GRCm39)	K973N	possibly damaging	Het
Dnhd1	T	C	7: 105,358,795 (GRCm39)	L3428P	probably damaging	Het
Ecm1	A	T	3: 95,641,676 (GRCm39)	N519K	probably damaging	Het
Fbxw11	T	C	11: 32,689,248 (GRCm39)	V457A	probably damaging	Het
Flna	C	T	X: 73,280,531 (GRCm39)	V1009M	possibly damaging	Het
Fmnl2	A	T	2: 52,997,507 (GRCm39)	K486I	possibly damaging	Het
Gja1	A	C	10: 56,264,607 (GRCm39)	Q322P	possibly damaging	Het
Gtpbp3	A	G	8: 71,943,156 (GRCm39)	Q189R	probably benign	Het
H2-Eb1	T	C	17: 34,533,417 (GRCm39)	V213A	probably damaging	Het
Herc4	G	T	10: 63,119,016 (GRCm39)	G322V	probably damaging	Het
Hgf	G	T	5: 16,820,856 (GRCm39)	G668*	probably null	Het
Htra1	T	C	7: 130,538,074 (GRCm39)	S25P	probably benign	Het
Ifi44	A	G	3: 151,451,126 (GRCm39)		probably null	Het
Klhl24	T	A	16: 19,933,312 (GRCm39)	S308T	probably damaging	Het
Lamb2	A	G	9: 108,365,217 (GRCm39)	N1291S	probably benign	Het
Lgals9	A	T	11: 78,860,589 (GRCm39)	F162Y	possibly damaging	Het
Lig3	T	A	11: 82,686,250 (GRCm39)	I634N	probably damaging	Het
Lipn	T	C	19: 34,056,340 (GRCm39)	F229L	probably benign	Het
Lmtk3	T	A	7: 45,442,716 (GRCm39)	S466R	probably damaging	Het
Lonrf2	G	A	1: 38,860,232 (GRCm39)	T22I	probably benign	Het
Macf1	T	C	4: 123,343,865 (GRCm39)	H2119R	probably damaging	Het
Muc6	C	T	7: 141,234,920 (GRCm39)	C634Y	probably damaging	Het
Nap1l1	G	A	10: 111,325,938 (GRCm39)	V86I	possibly damaging	Het
Noxred1	A	G	12: 87,280,258 (GRCm39)	Y25H	possibly damaging	Het
Nphp4	T	C	4: 152,573,248 (GRCm39)	L62P	probably damaging	Het
Or11h6	T	A	14: 50,880,305 (GRCm39)	I189N	probably damaging	Het
Or2b2	G	A	13: 21,887,238 (GRCm39)	W22*	probably null	Het
Or2b2	C	A	13: 21,887,239 (GRCm39)	L23M	probably damaging	Het
Or52ab4	T	G	7: 102,987,527 (GRCm39)	F89V	probably damaging	Het
Pcdh10	A	C	3: 45,347,142 (GRCm39)	D979A	probably damaging	Het
Pla2g4f	C	G	2: 120,142,806 (GRCm39)	Q101H	probably benign	Het
Ppp1r15b	T	C	1: 133,060,805 (GRCm39)	F441L	probably damaging	Het
Prkaca	C	A	8: 84,721,939 (GRCm39)	P309T	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ripor3	A	G	2: 167,826,386 (GRCm39)	Y720H	possibly damaging	Het
Rpgrip1	A	G	14: 52,386,808 (GRCm39)	E751G	possibly damaging	Het
Rsf1	GCGGCGGCGGCGGCGGC	GCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,126 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,731,253 (GRCm39)	S686P	probably damaging	Het
Seh1l	T	C	18: 67,921,860 (GRCm39)	V240A	possibly damaging	Het
Slc10a2	T	G	8: 5,139,126 (GRCm39)	I273L	possibly damaging	Het
Slc23a2	A	T	2: 131,933,137 (GRCm39)	L107*	probably null	Het
Slc44a4	T	C	17: 35,136,323 (GRCm39)	L38P	probably damaging	Het
Slc6a18	C	T	13: 73,815,148 (GRCm39)	V387I	probably benign	Het
Slu7	G	A	11: 43,334,218 (GRCm39)	A415T	probably benign	Het
Tlr5	A	T	1: 182,802,413 (GRCm39)	R572S	possibly damaging	Het
Tmem45a2	C	T	16: 56,891,387 (GRCm39)	G3D	probably benign	Het
Trim24	A	G	6: 37,892,192 (GRCm39)	T242A	probably damaging	Het
Triobp	T	A	15: 78,857,871 (GRCm39)	N1157K	probably benign	Het
Ugt1a6a	A	T	1: 88,066,899 (GRCm39)	D235V	probably benign	Het
Vmn2r37	C	T	7: 9,218,984 (GRCm39)	V467I	probably benign	Het
Vmn2r7	C	T	3: 64,600,414 (GRCm39)	E495K	probably benign	Het
Vstm2a	A	G	11: 16,213,098 (GRCm39)	E161G	probably damaging	Het
Ypel3	T	C	7: 126,377,537 (GRCm39)	V74A	possibly damaging	Het
Zfp1005	T	A	2: 150,108,122 (GRCm39)	N27K	possibly damaging	Het

Other mutations in Zfp27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Zfp27	APN	7	29,594,383 (GRCm39)	missense	probably damaging	0.97
IGL02490:Zfp27	APN	7	29,594,360 (GRCm39)	missense	possibly damaging	0.73
IGL02899:Zfp27	APN	7	29,595,680 (GRCm39)	missense	possibly damaging	0.91
R0179:Zfp27	UTSW	7	29,595,850 (GRCm39)	missense	possibly damaging	0.51
R0234:Zfp27	UTSW	7	29,593,532 (GRCm39)	missense	possibly damaging	0.73
R0234:Zfp27	UTSW	7	29,593,532 (GRCm39)	missense	possibly damaging	0.73
R0511:Zfp27	UTSW	7	29,593,947 (GRCm39)	missense	probably damaging	0.97
R1185:Zfp27	UTSW	7	29,595,254 (GRCm39)	missense	possibly damaging	0.92
R1185:Zfp27	UTSW	7	29,595,254 (GRCm39)	missense	possibly damaging	0.92
R1185:Zfp27	UTSW	7	29,595,254 (GRCm39)	missense	possibly damaging	0.92
R1294:Zfp27	UTSW	7	29,595,737 (GRCm39)	missense	possibly damaging	0.53
R1581:Zfp27	UTSW	7	29,595,549 (GRCm39)	missense	possibly damaging	0.53
R1763:Zfp27	UTSW	7	29,594,801 (GRCm39)	missense	possibly damaging	0.96
R2083:Zfp27	UTSW	7	29,594,208 (GRCm39)	missense	probably benign	0.06
R2217:Zfp27	UTSW	7	29,595,536 (GRCm39)	missense	possibly damaging	0.96
R2696:Zfp27	UTSW	7	29,595,792 (GRCm39)	missense	possibly damaging	0.85
R4864:Zfp27	UTSW	7	29,594,261 (GRCm39)	missense	probably damaging	0.99
R6057:Zfp27	UTSW	7	29,594,444 (GRCm39)	missense	possibly damaging	0.83
R6063:Zfp27	UTSW	7	29,593,727 (GRCm39)	missense	probably damaging	0.97
R6553:Zfp27	UTSW	7	29,595,818 (GRCm39)	missense	possibly damaging	0.86
R6585:Zfp27	UTSW	7	29,595,818 (GRCm39)	missense	possibly damaging	0.86
R6800:Zfp27	UTSW	7	29,593,860 (GRCm39)	missense	probably benign	0.19
R7051:Zfp27	UTSW	7	29,594,446 (GRCm39)	small deletion	probably benign
R7052:Zfp27	UTSW	7	29,594,446 (GRCm39)	small deletion	probably benign
R7066:Zfp27	UTSW	7	29,594,446 (GRCm39)	small deletion	probably benign
R7106:Zfp27	UTSW	7	29,594,446 (GRCm39)	small deletion	probably benign
R7432:Zfp27	UTSW	7	29,594,784 (GRCm39)	missense	probably benign	0.33
R7473:Zfp27	UTSW	7	29,595,324 (GRCm39)	missense	possibly damaging	0.71
R7670:Zfp27	UTSW	7	29,594,221 (GRCm39)	missense	possibly damaging	0.94
R7739:Zfp27	UTSW	7	29,593,699 (GRCm39)	missense	possibly damaging	0.93
R7817:Zfp27	UTSW	7	29,595,815 (GRCm39)	missense	possibly damaging	0.96
R8750:Zfp27	UTSW	7	29,594,804 (GRCm39)	missense	possibly damaging	0.53
R8819:Zfp27	UTSW	7	29,594,013 (GRCm39)	missense	probably benign	0.15
R8820:Zfp27	UTSW	7	29,594,013 (GRCm39)	missense	probably benign	0.15
R9189:Zfp27	UTSW	7	29,595,359 (GRCm39)	missense	possibly damaging	0.76
R9511:Zfp27	UTSW	7	29,593,641 (GRCm39)	missense	possibly damaging	0.71
R9705:Zfp27	UTSW	7	29,595,342 (GRCm39)	missense	possibly damaging	0.93
Z1177:Zfp27	UTSW	7	29,595,657 (GRCm39)	missense	possibly damaging	0.72
Z1177:Zfp27	UTSW	7	29,594,586 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GCATCCAAGTGTGCCCTTTG -3'
(R):5'- AATGCGGTGACTGTGGAAAGTC -3'

Sequencing Primer
(F):5'- TTTGCACGAAGGCTAGCC -3'
(R):5'- GGGAAAGGCTTCTCTTACAACTCAG -3'

Posted On

2015-05-15