Mutagenetix > Incidental Mutation

Incidental Mutation 'R5244:Zfp219'

401080

Institutional Source

Beutler Lab

Gene Symbol

Zfp219

Ensembl Gene

ENSMUSG00000049295

Gene Name

zinc finger protein 219

Synonyms

2010302A17Rik

MMRRC Submission

042815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5244 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52243534-52258190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 52245999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 331 (R331L)

Ref Sequence

ENSEMBL: ENSMUSP00000153966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067549] [ENSMUST00000093813] [ENSMUST00000100639] [ENSMUST00000166169] [ENSMUST00000182061] [ENSMUST00000226522] [ENSMUST00000182909] [ENSMUST00000182760] [ENSMUST00000183208] [ENSMUST00000226527] [ENSMUST00000182905] [ENSMUST00000228580] [ENSMUST00000228747] [ENSMUST00000226554] [ENSMUST00000226605] [ENSMUST00000228162] [ENSMUST00000226964] [ENSMUST00000228051]

AlphaFold

Q6IQX8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067549
AA Change: R376L

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000068184
Gene: ENSMUSG00000049295
AA Change: R376L

Domain	Start	End	E-Value	Type
low complexity region	30	47	N/A	INTRINSIC
ZnF_C2H2	61	83	6.23e-2	SMART
ZnF_C2H2	89	111	4.17e-3	SMART
low complexity region	113	146	N/A	INTRINSIC
ZnF_C2H2	167	190	3.07e-1	SMART
ZnF_C2H2	193	216	1.51e0	SMART
low complexity region	229	276	N/A	INTRINSIC
ZnF_C2H2	277	299	8.47e-4	SMART
ZnF_C2H2	305	327	1.38e-3	SMART
low complexity region	331	350	N/A	INTRINSIC
low complexity region	354	379	N/A	INTRINSIC
low complexity region	427	441	N/A	INTRINSIC
ZnF_C2H2	501	523	3.63e-3	SMART
ZnF_C2H2	529	551	1.58e-3	SMART
low complexity region	560	570	N/A	INTRINSIC
low complexity region	594	611	N/A	INTRINSIC
low complexity region	637	648	N/A	INTRINSIC
ZnF_C2H2	650	672	2.82e0	SMART
low complexity region	675	684	N/A	INTRINSIC
low complexity region	695	714	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093813

SMART Domains

Protein: ENSMUSP00000091331
Gene: ENSMUSG00000004562

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	773	792	N/A	INTRINSIC
low complexity region	885	914	N/A	INTRINSIC
low complexity region	958	996	N/A	INTRINSIC
Pfam:RhoGEF	1087	1246	6.1e-9	PFAM
PH	1264	1372	3.97e-8	SMART
low complexity region	1403	1424	N/A	INTRINSIC
low complexity region	1478	1491	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100639

SMART Domains

Protein: ENSMUSP00000098204
Gene: ENSMUSG00000004562

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	773	792	N/A	INTRINSIC
low complexity region	885	914	N/A	INTRINSIC
low complexity region	958	996	N/A	INTRINSIC
Pfam:RhoGEF	1087	1246	5.9e-9	PFAM
PH	1264	1372	3.97e-8	SMART
low complexity region	1430	1443	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166169
AA Change: R376L

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126854
Gene: ENSMUSG00000049295
AA Change: R376L

Domain	Start	End	E-Value	Type
low complexity region	30	47	N/A	INTRINSIC
ZnF_C2H2	61	83	6.23e-2	SMART
ZnF_C2H2	89	111	4.17e-3	SMART
low complexity region	113	146	N/A	INTRINSIC
ZnF_C2H2	167	190	3.07e-1	SMART
ZnF_C2H2	193	216	1.51e0	SMART
low complexity region	229	276	N/A	INTRINSIC
ZnF_C2H2	277	299	8.47e-4	SMART
ZnF_C2H2	305	327	1.38e-3	SMART
low complexity region	331	350	N/A	INTRINSIC
low complexity region	354	379	N/A	INTRINSIC
low complexity region	427	441	N/A	INTRINSIC
ZnF_C2H2	501	523	3.63e-3	SMART
ZnF_C2H2	529	551	1.58e-3	SMART
low complexity region	560	570	N/A	INTRINSIC
low complexity region	594	611	N/A	INTRINSIC
low complexity region	637	648	N/A	INTRINSIC
ZnF_C2H2	650	672	2.82e0	SMART
low complexity region	675	684	N/A	INTRINSIC
low complexity region	695	714	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182061

SMART Domains

Protein: ENSMUSP00000138128
Gene: ENSMUSG00000004562

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	773	792	N/A	INTRINSIC
low complexity region	885	914	N/A	INTRINSIC
low complexity region	958	996	N/A	INTRINSIC
Pfam:RhoGEF	1087	1247	3.7e-9	PFAM
PH	1264	1372	3.97e-8	SMART
low complexity region	1430	1443	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182217

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183213

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226522
AA Change: R376L

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000182909

SMART Domains

Protein: ENSMUSP00000138635
Gene: ENSMUSG00000004562

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	773	792	N/A	INTRINSIC
low complexity region	885	914	N/A	INTRINSIC
low complexity region	958	996	N/A	INTRINSIC
Pfam:RhoGEF	1087	1247	3.9e-9	PFAM
PH	1264	1372	3.97e-8	SMART
low complexity region	1403	1424	N/A	INTRINSIC
low complexity region	1478	1491	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182828

Predicted Effect

probably benign
Transcript: ENSMUST00000182760

SMART Domains

Protein: ENSMUSP00000138125
Gene: ENSMUSG00000004562

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	782	801	N/A	INTRINSIC
low complexity region	894	923	N/A	INTRINSIC
low complexity region	967	1005	N/A	INTRINSIC
Pfam:RhoGEF	1096	1256	5.9e-9	PFAM
PH	1273	1381	3.97e-8	SMART
low complexity region	1412	1433	N/A	INTRINSIC
low complexity region	1487	1500	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183208

SMART Domains

Protein: ENSMUSP00000138354
Gene: ENSMUSG00000004562

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226527

Predicted Effect

probably benign
Transcript: ENSMUST00000182905

SMART Domains

Protein: ENSMUSP00000138797
Gene: ENSMUSG00000004562

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	773	792	N/A	INTRINSIC
low complexity region	885	914	N/A	INTRINSIC
low complexity region	958	996	N/A	INTRINSIC
SCOP:d1kz7a1	1073	1162	4e-7	SMART
Blast:RhoGEF	1087	1157	1e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226474

Predicted Effect

probably benign
Transcript: ENSMUST00000182667

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228580
AA Change: R331L

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000228747

Predicted Effect

probably benign
Transcript: ENSMUST00000226554

Predicted Effect

probably benign
Transcript: ENSMUST00000226605

Predicted Effect

probably benign
Transcript: ENSMUST00000228162

Predicted Effect

probably benign
Transcript: ENSMUST00000226964

Predicted Effect

probably benign
Transcript: ENSMUST00000228051

Meta Mutation Damage Score

0.0694

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	G	T	9: 53,323,098 (GRCm39)	G45W	probably damaging	Het
Abca13	C	T	11: 9,225,081 (GRCm39)	T520I	probably benign	Het
Adamtsl3	C	T	7: 82,247,277 (GRCm39)	P485L	probably benign	Het
Bbof1	A	C	12: 84,476,847 (GRCm39)	E492A	possibly damaging	Het
Capn11	T	C	17: 45,944,818 (GRCm39)	E483G	probably damaging	Het
Cbs	C	T	17: 31,836,134 (GRCm39)	G438D	probably damaging	Het
Chil6	A	G	3: 106,297,290 (GRCm39)	Y284H	probably damaging	Het
Cops4	C	A	5: 100,681,241 (GRCm39)	Q131K	probably benign	Het
Cul4a	T	C	8: 13,196,566 (GRCm39)	I740T	probably damaging	Het
Cyfip1	C	T	7: 55,574,947 (GRCm39)	T1066I	probably damaging	Het
Dnah7b	T	C	1: 46,273,018 (GRCm39)	L2382P	probably damaging	Het
Ehd3	A	T	17: 74,136,995 (GRCm39)	H388L	probably benign	Het
Fam13a	G	T	6: 58,930,459 (GRCm39)	Y484*	probably null	Het
Gm5117	A	G	8: 32,228,305 (GRCm39)		noncoding transcript	Het
Gulp1	G	A	1: 44,827,613 (GRCm39)	D260N	probably damaging	Het
Hhipl1	T	A	12: 108,278,393 (GRCm39)	N240K	probably damaging	Het
Hydin	A	T	8: 111,259,451 (GRCm39)	E2474D	possibly damaging	Het
Ifi207	C	T	1: 173,557,503 (GRCm39)	V412I	probably benign	Het
Ighv9-4	T	C	12: 114,263,871 (GRCm39)	I21V	probably benign	Het
Kcnh1	A	T	1: 191,907,184 (GRCm39)	T79S	probably benign	Het
Kpna6	A	G	4: 129,549,221 (GRCm39)		probably null	Het
Lnpk	C	T	2: 74,362,232 (GRCm39)	G262D	probably damaging	Het
Lsm7	T	C	10: 80,688,907 (GRCm39)	E66G	probably benign	Het
Mbd3l1	T	A	9: 18,395,933 (GRCm39)	C19*	probably null	Het
Mfsd6l	T	A	11: 68,448,001 (GRCm39)	L284Q	possibly damaging	Het
Naip5	C	T	13: 100,382,170 (GRCm39)	V180I	probably benign	Het
Or2ag1b	T	A	7: 106,288,396 (GRCm39)	I181F	probably benign	Het
Or2j6	A	T	7: 139,980,051 (GRCm39)	C303S	probably benign	Het
Or4k39	T	A	2: 111,238,899 (GRCm39)		noncoding transcript	Het
Or6d13	T	A	6: 116,518,187 (GRCm39)	Y258N	probably damaging	Het
Or7g22	A	T	9: 19,049,147 (GRCm39)	N286I	probably damaging	Het
Or8g20	T	G	9: 39,395,808 (GRCm39)	H247P	probably damaging	Het
Or8u10	C	G	2: 85,915,300 (GRCm39)	A274P	probably damaging	Het
Pck1	T	A	2: 172,996,656 (GRCm39)	I190N	possibly damaging	Het
Pfkfb3	T	A	2: 11,489,660 (GRCm39)	I209F	probably damaging	Het
Phc1	A	G	6: 122,298,938 (GRCm39)	S677P	probably damaging	Het
Pirb	G	A	7: 3,719,062 (GRCm39)	A609V	probably benign	Het
Plag1	A	T	4: 3,903,887 (GRCm39)	S435T	probably benign	Het
Plscr2	C	G	9: 92,173,102 (GRCm39)	L215V	probably benign	Het
Pnma8a	A	G	7: 16,695,248 (GRCm39)	S368G	probably damaging	Het
Polr2b	A	G	5: 77,490,847 (GRCm39)		probably benign	Het
Pthlh	T	C	6: 147,158,651 (GRCm39)	Y103C	probably damaging	Het
Ptprq	A	G	10: 107,422,556 (GRCm39)	V1612A	possibly damaging	Het
Rprd2	T	A	3: 95,697,494 (GRCm39)	I85L	possibly damaging	Het
Slc27a2	T	C	2: 126,420,775 (GRCm39)	V422A	probably benign	Het
Slc29a1	T	C	17: 45,899,339 (GRCm39)		probably benign	Het
Slc36a4	A	T	9: 15,645,574 (GRCm39)	I334F	probably benign	Het
Slc4a10	T	A	2: 62,119,069 (GRCm39)	S761R	probably damaging	Het
Spa17	T	A	9: 37,523,285 (GRCm39)	M1L	probably damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stk19	A	G	17: 35,051,046 (GRCm39)	L72P	probably damaging	Het
Trhde	T	C	10: 114,636,986 (GRCm39)	M74V	probably benign	Het
Trim37	C	T	11: 87,109,083 (GRCm39)	H937Y	probably benign	Het
Ttc7b	A	G	12: 100,314,269 (GRCm39)	L46P	probably damaging	Het
Ttll4	T	C	1: 74,735,607 (GRCm39)	V1005A	probably benign	Het
Ugt2b36	T	C	5: 87,239,765 (GRCm39)	T207A	probably damaging	Het
Unc13c	C	T	9: 73,433,233 (GRCm39)		probably null	Het
Vmn1r221	T	C	13: 23,401,808 (GRCm39)		noncoding transcript	Het
Vmn2r101	T	C	17: 19,831,788 (GRCm39)	S595P	probably damaging	Het
Wnt10a	T	C	1: 74,842,454 (GRCm39)	L310P	probably damaging	Het
Yif1b	G	A	7: 28,943,866 (GRCm39)	A115T	probably damaging	Het

Other mutations in Zfp219

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02134:Zfp219	APN	14	52,246,758 (GRCm39)	missense	probably damaging	1.00
Bart	UTSW	14	52,244,163 (GRCm39)	missense	probably damaging	0.99
Bert	UTSW	14	52,244,395 (GRCm39)	missense	probably benign	0.02
R0019:Zfp219	UTSW	14	52,246,485 (GRCm39)	missense	probably damaging	1.00
R0103:Zfp219	UTSW	14	52,244,163 (GRCm39)	missense	probably damaging	0.99
R0811:Zfp219	UTSW	14	52,244,395 (GRCm39)	missense	probably benign	0.02
R0812:Zfp219	UTSW	14	52,244,395 (GRCm39)	missense	probably benign	0.02
R1677:Zfp219	UTSW	14	52,246,512 (GRCm39)	missense	probably damaging	1.00
R1773:Zfp219	UTSW	14	52,244,563 (GRCm39)	missense	probably damaging	0.99
R1921:Zfp219	UTSW	14	52,245,691 (GRCm39)	missense	probably benign	0.00
R2929:Zfp219	UTSW	14	52,246,436 (GRCm39)	missense	probably benign	0.00
R3970:Zfp219	UTSW	14	52,244,421 (GRCm39)	missense	probably benign	0.05
R4485:Zfp219	UTSW	14	52,244,841 (GRCm39)	missense	probably damaging	0.99
R5020:Zfp219	UTSW	14	52,247,112 (GRCm39)	missense	probably damaging	1.00
R5206:Zfp219	UTSW	14	52,247,022 (GRCm39)	missense	probably benign	0.40
R5907:Zfp219	UTSW	14	52,244,606 (GRCm39)	critical splice acceptor site	probably null
R6903:Zfp219	UTSW	14	52,244,118 (GRCm39)	missense	probably benign	0.31
R7409:Zfp219	UTSW	14	52,244,570 (GRCm39)	nonsense	probably null
R8725:Zfp219	UTSW	14	52,244,899 (GRCm39)	missense	possibly damaging	0.58
R8937:Zfp219	UTSW	14	52,244,224 (GRCm39)	missense	probably damaging	0.98
R9135:Zfp219	UTSW	14	52,244,598 (GRCm39)	missense	probably damaging	1.00
R9157:Zfp219	UTSW	14	52,246,200 (GRCm39)	missense	probably damaging	0.99
R9203:Zfp219	UTSW	14	52,246,405 (GRCm39)	missense	probably damaging	0.98
R9297:Zfp219	UTSW	14	52,246,494 (GRCm39)	missense	probably damaging	0.98
R9313:Zfp219	UTSW	14	52,246,200 (GRCm39)	missense	probably damaging	0.99
R9717:Zfp219	UTSW	14	52,247,049 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTACATACCTTGGGTGGCC -3'
(R):5'- CCTTAAGAACCACATGAAGGTGC -3'

Sequencing Primer
(F):5'- AGTCAGAGAGCCCAGCGAC -3'
(R):5'- TGCACACCAGCAAGCTG -3'

Posted On

2016-07-06