Mutagenetix > Incidental Mutation

Incidental Mutation 'R1581:Zfp27'

171399

Institutional Source

Beutler Lab

Gene Symbol

Zfp27

Ensembl Gene

ENSMUSG00000062040

Gene Name

zinc finger protein 27

Synonyms

Zfp-27, mkr-4

MMRRC Submission

039618-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.602) question?

Stock #

R1581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29592758-29605997 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29595549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 139 (T139S)

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: T139S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054012
Gene: ENSMUSG00000062040
AA Change: T139S

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: T139S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125232
Gene: ENSMUSG00000062040
AA Change: T139S

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: T139S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124684
Gene: ENSMUSG00000062040
AA Change: T139S

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: T139S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123953
Gene: ENSMUSG00000062040
AA Change: T139S

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: T139S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127677
Gene: ENSMUSG00000062040
AA Change: T139S

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: 99.1%
3x: 98.2%
10x: 96.2%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,063,347 (GRCm39)	E447G	probably benign	Het
Actn4	T	C	7: 28,598,071 (GRCm39)	T510A	probably benign	Het
Adgrb3	A	G	1: 25,133,153 (GRCm39)	M1311T	possibly damaging	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bicdl1	G	T	5: 115,789,326 (GRCm39)		probably benign	Het
Bmyc	T	C	2: 25,597,346 (GRCm39)	S137P	probably damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Casc3	C	T	11: 98,713,644 (GRCm39)	T292I	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cibar1	T	A	4: 12,155,745 (GRCm39)		probably null	Het
Cnnm2	A	G	19: 46,751,562 (GRCm39)	T451A	probably damaging	Het
Eed	T	C	7: 89,629,676 (GRCm39)	K20E	possibly damaging	Het
Eps15	T	A	4: 109,220,383 (GRCm39)	M180K	probably benign	Het
Esr1	T	C	10: 4,947,905 (GRCm39)	I486T	probably damaging	Het
Etnppl	A	G	3: 130,422,393 (GRCm39)	I207V	possibly damaging	Het
Fancg	G	A	4: 43,007,039 (GRCm39)	P246L	probably damaging	Het
Fcrl1	G	A	3: 87,293,030 (GRCm39)	C249Y	possibly damaging	Het
Foxred2	A	G	15: 77,839,961 (GRCm39)	F110L	possibly damaging	Het
Fsip2	A	T	2: 82,816,626 (GRCm39)	N4120Y	probably damaging	Het
Gm4884	C	T	7: 40,693,255 (GRCm39)	S408L	probably benign	Het
Gm9476	T	C	10: 100,142,474 (GRCm39)		noncoding transcript	Het
Gria1	T	C	11: 57,127,836 (GRCm39)		probably null	Het
H6pd	T	A	4: 150,066,971 (GRCm39)	I472F	possibly damaging	Het
Hydin	A	T	8: 111,137,092 (GRCm39)	M632L	probably benign	Het
Hyou1	C	T	9: 44,300,167 (GRCm39)	P819S	probably damaging	Het
Il6st	A	G	13: 112,618,075 (GRCm39)	E163G	probably damaging	Het
Kcnk1	T	C	8: 126,722,278 (GRCm39)	V27A	possibly damaging	Het
Kdelr3	T	C	15: 79,407,114 (GRCm39)		probably null	Het
Klk1b22	A	G	7: 43,765,399 (GRCm39)	N117S	possibly damaging	Het
Klrh1	T	C	6: 129,752,796 (GRCm39)	D3G	probably benign	Het
Lpp	C	A	16: 24,500,591 (GRCm39)	C134*	probably null	Het
Lrrc37a	G	A	11: 103,347,843 (GRCm39)	R2951*	probably null	Het
Luzp2	T	A	7: 54,899,238 (GRCm39)	D285E	possibly damaging	Het
Ly75	C	T	2: 60,158,237 (GRCm39)	R1016H	probably damaging	Het
Mesp2	T	A	7: 79,462,289 (GRCm39)	S282T	possibly damaging	Het
Nav3	T	C	10: 109,659,289 (GRCm39)	D776G	probably damaging	Het
Nr2e1	T	C	10: 42,443,964 (GRCm39)	T253A	probably benign	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or1r1	A	T	11: 73,875,347 (GRCm39)	L29H	probably damaging	Het
Padi6	T	C	4: 140,463,147 (GRCm39)	Y146C	probably damaging	Het
Pank4	C	T	4: 155,059,108 (GRCm39)	R414W	probably damaging	Het
Pclo	T	G	5: 14,571,296 (GRCm39)	I227S	probably benign	Het
Plppr4	A	G	3: 117,121,915 (GRCm39)	V221A	possibly damaging	Het
Pradc1	G	A	6: 85,425,568 (GRCm39)	R25C	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rnd2	A	G	11: 101,362,022 (GRCm39)	T192A	probably benign	Het
Rtbdn	A	G	8: 85,681,695 (GRCm39)	E131G	probably benign	Het
Ryr2	A	G	13: 11,809,449 (GRCm39)	V792A	probably benign	Het
Sacs	G	T	14: 61,451,128 (GRCm39)	Q4391H	probably damaging	Het
Scd2	A	G	19: 44,286,538 (GRCm39)	S123G	probably benign	Het
Septin9	A	G	11: 117,181,421 (GRCm39)	R74G	probably damaging	Het
Sipa1l2	T	A	8: 126,218,356 (GRCm39)	Q327L	probably damaging	Het
Skor1	T	C	9: 63,053,505 (GRCm39)	T127A	probably damaging	Het
Sphk2	A	G	7: 45,362,920 (GRCm39)	V57A	probably damaging	Het
Tfec	A	T	6: 16,844,243 (GRCm39)	D101E	probably damaging	Het
Tmem43	T	A	6: 91,455,717 (GRCm39)	H109Q	probably benign	Het
Tmem67	C	A	4: 12,047,814 (GRCm39)	S839I	probably damaging	Het
Trpv5	T	C	6: 41,630,074 (GRCm39)	Y672C	probably damaging	Het
Ttc39d	A	C	17: 80,523,913 (GRCm39)	S191R	probably benign	Het
Ttll1	C	T	15: 83,380,478 (GRCm39)	V296M	probably damaging	Het
Upp2	A	C	2: 58,664,177 (GRCm39)	K130T	possibly damaging	Het
Vmn2r5	A	G	3: 64,398,640 (GRCm39)	C780R	probably damaging	Het
Wars1	C	A	12: 108,841,635 (GRCm39)	E171*	probably null	Het
Zeb2	A	T	2: 44,887,012 (GRCm39)	S637T	probably damaging	Het
Zfp941	A	T	7: 140,392,033 (GRCm39)	L442Q	probably benign	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
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
R4084:Zfp27	UTSW	7	29,594,792 (GRCm39)	missense	possibly damaging	0.91
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'- ACAGTCACCGCATTTATAGGGCTTC -3'
(R):5'- GTTGCCATGACTACTCAGGCGTTAG -3'

Sequencing Primer
(F):5'- tggtgtgggttttttgatgtg -3'
(R):5'- CTACTCAGGCGTTAGGAAGGTG -3'

Posted On

2014-04-13