Mutagenetix > Incidental Mutation

Incidental Mutation 'R8820:Zfp27'

672983

Institutional Source

Beutler Lab

Gene Symbol

Zfp27

Ensembl Gene

ENSMUSG00000062040

Gene Name

zinc finger protein 27

Synonyms

mkr-4, Zfp-27

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.525) question?

Stock #

R8820 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29893333-29906572 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29894588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 651 (K651E)

Ref Sequence

ENSEMBL: ENSMUSP00000054012 (fasta)

Gene Model

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

AlphaFold

P10077

Predicted Effect

probably benign
Transcript: ENSMUST00000053521
AA Change: K651E

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000054012
Gene: ENSMUSG00000062040
AA Change: K651E

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

probably benign
Transcript: ENSMUST00000159920
AA Change: K651E

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125232
Gene: ENSMUSG00000062040
AA Change: K651E

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

probably benign
Transcript: ENSMUST00000161904
AA Change: K651E

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124684
Gene: ENSMUSG00000062040
AA Change: K651E

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

probably benign
Transcript: ENSMUST00000162592
AA Change: K651E

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000123953
Gene: ENSMUSG00000062040
AA Change: K651E

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

probably benign
Transcript: ENSMUST00000172448
AA Change: K651E

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000127677
Gene: ENSMUSG00000062040
AA Change: K651E

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

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,726,454	F873L	possibly damaging	Het
4930504O13Rik	T	G	11: 58,446,303	S115R	probably damaging	Het
Abca17	A	G	17: 24,328,602	L266P	probably damaging	Het
Abcb1a	A	T	5: 8,723,204	T811S	possibly damaging	Het
Als2cl	T	C	9: 110,885,787	F125L	probably benign	Het
Arhgap33	T	C	7: 30,528,740	I406V	probably benign	Het
Cdyl	T	C	13: 35,858,191	I404T	probably damaging	Het
Clasrp	C	T	7: 19,586,437	R432H	unknown	Het
Clk2	T	A	3: 89,175,423	M392K	probably damaging	Het
Cps1	T	A	1: 67,228,280	N1402K	possibly damaging	Het
Cyp2u1	T	C	3: 131,298,367	H168R	probably damaging	Het
Dapl1	T	C	2: 59,504,712	L70P	probably damaging	Het
Ddr2	T	A	1: 169,977,914	K836*	probably null	Het
Dsel	A	G	1: 111,860,264	L847P	probably benign	Het
Fbxw17	A	T	13: 50,433,315	K437M	possibly damaging	Het
Fktn	T	C	4: 53,735,001	V174A	possibly damaging	Het
Frem1	C	A	4: 82,903,517	S2118I	probably damaging	Het
Fzd8	G	A	18: 9,213,247	V110M	unknown	Het
Gabrb3	T	C	7: 57,792,581	S212P	probably damaging	Het
Gimap9	A	G	6: 48,677,887	D136G	probably benign	Het
Gldc	C	G	19: 30,100,812	M928I	probably benign	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Ift46	C	T	9: 44,790,522	T283I	probably damaging	Het
Il1f8	C	T	2: 24,159,880	Q168*	probably null	Het
Ldb2	G	A	5: 44,799,415	Q27*	probably null	Het
Lmcd1	T	A	6: 112,329,809	I314N	probably damaging	Het
Mctp2	C	A	7: 72,229,333	V259L	probably benign	Het
Midn	T	G	10: 80,154,400	S302A	probably damaging	Het
Ncor2	A	G	5: 125,029,227	V797A		Het
Npm2	A	G	14: 70,648,328	S146P	probably damaging	Het
Npr1	G	A	3: 90,464,894	R204C	probably damaging	Het
Olfr338	T	C	2: 36,376,994	S73P	probably damaging	Het
Olfr353	C	A	2: 36,890,610	M79I	probably benign	Het
Olfr49	C	T	14: 54,282,613	G94D	probably benign	Het
Olfr665	T	A	7: 104,881,655	V316D	possibly damaging	Het
Orc2	T	C	1: 58,476,480	N290D	probably benign	Het
Paip2b	A	C	6: 83,814,756	M48R	probably damaging	Het
Pcdhb15	T	A	18: 37,473,918	S68T	probably benign	Het
Pcnx	T	A	12: 81,973,248	H715Q		Het
Pcsk2	T	A	2: 143,801,070	H422Q	probably damaging	Het
Pdzph1	G	C	17: 58,880,720	Y1168*	probably null	Het
Peli2	G	A	14: 48,252,673	E201K	possibly damaging	Het
Prelp	T	C	1: 133,915,140	N89S	probably damaging	Het
Proz	T	A	8: 13,063,253	F25I	probably damaging	Het
Rapgef3	T	C	15: 97,748,657	N799S	probably benign	Het
Ryr3	G	A	2: 112,635,792	R4795W	probably damaging	Het
Ryr3	A	G	2: 112,859,724	V1180A	probably benign	Het
Scn11a	T	C	9: 119,816,520	I123V	probably benign	Het
Sema4b	G	C	7: 80,220,500	E475D	probably damaging	Het
Serinc2	C	A	4: 130,255,379	M343I	probably damaging	Het
Serinc5	G	T	13: 92,708,036	V429F	probably benign	Het
Smyd2	T	A	1: 189,899,821	K115N	probably benign	Het
Tenm3	T	G	8: 48,310,724	D765A	probably damaging	Het
Tmem2	G	A	19: 21,807,454	V434M	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172		probably benign	Het
Ythdc2	C	T	18: 44,834,464	R176*	probably null	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
R2217:Zfp27	UTSW	7	29896111	missense	possibly damaging	0.96
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
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'- TGAAGGACTTCCCACACTCTG -3'
(R):5'- TATACACGAGAAGATTCACACCGG -3'

Sequencing Primer
(F):5'- ACTCTGAACACGCGTACGG -3'
(R):5'- TTCACACCGGAGAGAGACAGTAC -3'

Posted On

2021-04-30