Mutagenetix > Incidental Mutation

Incidental Mutation 'R2217:Zfp27'

241208

Institutional Source

Beutler Lab

Gene Symbol

Zfp27

Ensembl Gene

ENSMUSG00000062040

Gene Name

zinc finger protein 27

Synonyms

mkr-4, Zfp-27

MMRRC Submission

040219-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.535) question?

Stock #

R2217 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29893333-29906572 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29896111 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 143 (L143P)

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: L143P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054012
Gene: ENSMUSG00000062040
AA Change: L143P

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: L143P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125232
Gene: ENSMUSG00000062040
AA Change: L143P

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: L143P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124684
Gene: ENSMUSG00000062040
AA Change: L143P

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: L143P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123953
Gene: ENSMUSG00000062040
AA Change: L143P

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: L143P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127677
Gene: ENSMUSG00000062040
AA Change: L143P

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: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	T	C	8: 111,982,496	K232E	probably benign	Het
Apba1	T	C	19: 23,893,962	M386T	probably damaging	Het
Appl2	G	T	10: 83,608,737	F472L	possibly damaging	Het
Atxn2	T	C	5: 121,803,077	Y56H	probably damaging	Het
Cacna1c	T	C	6: 118,670,407	Y809C	probably damaging	Het
Canx	C	T	11: 50,310,867	V59I	probably benign	Het
Catsperb	T	C	12: 101,594,219	L823P	probably damaging	Het
Crb3	T	C	17: 57,065,090	S46P	probably benign	Het
Daam1	G	A	12: 71,989,827	R1058H	probably damaging	Het
Ehd1	T	A	19: 6,298,472	D493E	probably damaging	Het
Eml6	T	A	11: 29,818,907	Q746L	probably damaging	Het
Epg5	T	A	18: 77,949,072	M328K	probably benign	Het
Flt4	T	A	11: 49,624,728	S48T	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Gm7535	A	G	17: 17,911,674		probably benign	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Hmcn2	A	T	2: 31,350,574	T494S	probably benign	Het
Hydin	G	A	8: 110,418,506	V830I	probably benign	Het
Map3k6	T	A	4: 133,246,672	H487Q	possibly damaging	Het
Myh14	G	A	7: 44,634,376	P735S	probably damaging	Het
Nfkb2	T	C	19: 46,307,724		probably null	Het
Nlrp4c	T	C	7: 6,073,114	V671A	probably benign	Het
Nsrp1	A	T	11: 77,045,761	Y536*	probably null	Het
Olfr1217	G	T	2: 89,023,426	H192Q	probably benign	Het
Pak7	A	G	2: 136,116,203	S322P	probably damaging	Het
Pank2	A	G	2: 131,282,681		probably null	Het
Phf6	A	T	X: 52,942,648	I272F	probably damaging	Het
Plxna2	T	C	1: 194,797,748	L1409P	probably damaging	Het
Polr2a	A	G	11: 69,742,685		probably null	Het
Pp2d1	C	A	17: 53,515,454	V195L	probably benign	Het
Psma1	C	T	7: 114,264,938	E227K	unknown	Het
Ptger1	C	T	8: 83,668,728	T278I	probably benign	Het
Slc20a2	C	A	8: 22,560,516	S250R	probably benign	Het
Slc27a2	A	G	2: 126,567,752	T285A	probably damaging	Het
Slc47a2	T	C	11: 61,313,671	T285A	probably benign	Het
Slf1	T	A	13: 77,046,706		probably null	Het
Tiam2	A	G	17: 3,415,114	T373A	probably benign	Het
Timd2	T	A	11: 46,687,017	I96L	probably damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Tmem64	T	C	4: 15,266,658	I236T	possibly damaging	Het
Trpm2	T	A	10: 77,941,182	D427V	probably damaging	Het
Vax2	A	T	6: 83,737,889	Y262F	probably damaging	Het
Virma	T	C	4: 11,544,924	S1628P	probably damaging	Het
Zan	C	A	5: 137,410,306		probably benign	Het
Zbtb22	T	G	17: 33,917,965	D361E	probably damaging	Het

Other mutations in Zfp27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Zfp27	APN	7	29894958	missense	probably damaging	0.97
IGL02490:Zfp27	APN	7	29894935	missense	possibly damaging	0.73
IGL02899:Zfp27	APN	7	29896255	missense	possibly damaging	0.91
R0179:Zfp27	UTSW	7	29896425	missense	possibly damaging	0.51
R0234:Zfp27	UTSW	7	29894107	missense	possibly damaging	0.73
R0234:Zfp27	UTSW	7	29894107	missense	possibly damaging	0.73
R0511:Zfp27	UTSW	7	29894522	missense	probably damaging	0.97
R1185:Zfp27	UTSW	7	29895829	missense	possibly damaging	0.92
R1185:Zfp27	UTSW	7	29895829	missense	possibly damaging	0.92
R1185:Zfp27	UTSW	7	29895829	missense	possibly damaging	0.92
R1294:Zfp27	UTSW	7	29896312	missense	possibly damaging	0.53
R1581:Zfp27	UTSW	7	29896124	missense	possibly damaging	0.53
R1763:Zfp27	UTSW	7	29895376	missense	possibly damaging	0.96
R2083:Zfp27	UTSW	7	29894783	missense	probably benign	0.06
R2696:Zfp27	UTSW	7	29896367	missense	possibly damaging	0.85
R4084:Zfp27	UTSW	7	29895367	missense	possibly damaging	0.91
R4864:Zfp27	UTSW	7	29894836	missense	probably damaging	0.99
R6057:Zfp27	UTSW	7	29895019	missense	possibly damaging	0.83
R6063:Zfp27	UTSW	7	29894302	missense	probably damaging	0.97
R6553:Zfp27	UTSW	7	29896393	missense	possibly damaging	0.86
R6585:Zfp27	UTSW	7	29896393	missense	possibly damaging	0.86
R6800:Zfp27	UTSW	7	29894435	missense	probably benign	0.19
R7051:Zfp27	UTSW	7	29895021	small deletion	probably benign
R7052:Zfp27	UTSW	7	29895021	small deletion	probably benign
R7066:Zfp27	UTSW	7	29895021	small deletion	probably benign
R7106:Zfp27	UTSW	7	29895021	small deletion	probably benign
R7432:Zfp27	UTSW	7	29895359	missense	probably benign	0.33
R7473:Zfp27	UTSW	7	29895899	missense	possibly damaging	0.71
R7670:Zfp27	UTSW	7	29894796	missense	possibly damaging	0.94
R7739:Zfp27	UTSW	7	29894274	missense	possibly damaging	0.93
R7817:Zfp27	UTSW	7	29896390	missense	possibly damaging	0.96
R8750:Zfp27	UTSW	7	29895379	missense	possibly damaging	0.53
R8819:Zfp27	UTSW	7	29894588	missense	probably benign	0.15
R8820:Zfp27	UTSW	7	29894588	missense	probably benign	0.15
R9189:Zfp27	UTSW	7	29895934	missense	possibly damaging	0.76
R9511:Zfp27	UTSW	7	29894216	missense	possibly damaging	0.71
R9705:Zfp27	UTSW	7	29895917	missense	possibly damaging	0.93
Z1177:Zfp27	UTSW	7	29895161	missense	probably benign	0.33
Z1177:Zfp27	UTSW	7	29896232	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- ACGTCTGAGAACATGCCTTCC -3'
(R):5'- ACTCAGGCGTTAGGAAGGTG -3'

Sequencing Primer
(F):5'- CACACGTAGAGTTTTTCTCCTGTAGG -3'
(R):5'- GGAAGGTGATTCATGTGAACTCATAC -3'

Posted On

2014-10-15