Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02134:Zfp219'

281228

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp219

Ensembl Gene

ENSMUSG00000049295

Gene Name

zinc finger protein 219

Synonyms

2010302A17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02134

Quality Score

Status

Chromosome

Chromosomal Location

52243534-52258190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52246758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 78 (L78P)

Ref Sequence

ENSEMBL: ENSMUSP00000153966 (fasta)

Gene Model

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

AlphaFold

Q6IQX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000067549
AA Change: L123P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068184
Gene: ENSMUSG00000049295
AA Change: L123P

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

probably damaging
Transcript: ENSMUST00000166169
AA Change: L123P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126854
Gene: ENSMUSG00000049295
AA Change: L123P

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: ENSMUST00000182644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183213

Predicted Effect

probably damaging
Transcript: ENSMUST00000226522
AA Change: L123P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

unknown
Transcript: ENSMUST00000226527
AA Change: L123P

Predicted Effect

probably benign
Transcript: ENSMUST00000182828

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: 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: ENSMUST00000182667

Predicted Effect

probably benign
Transcript: ENSMUST00000226554

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

noncoding transcript
Transcript: ENSMUST00000226474

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

probably damaging
Transcript: ENSMUST00000226964
AA Change: L123P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228580
AA Change: L78P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

unknown
Transcript: ENSMUST00000228747
AA Change: L123P

Predicted Effect

probably benign
Transcript: ENSMUST00000228162

Predicted Effect

probably benign
Transcript: ENSMUST00000228051

Predicted Effect

probably benign
Transcript: ENSMUST00000226605

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf4	T	C	17: 42,980,581 (GRCm39)	N168S	probably damaging	Het
Angptl3	A	T	4: 98,919,349 (GRCm39)	R36S	probably damaging	Het
Ap5z1	T	C	5: 142,460,214 (GRCm39)	F514L	probably benign	Het
Arhgef39	C	A	4: 43,497,578 (GRCm39)		probably null	Het
Aste1	A	G	9: 105,275,043 (GRCm39)	S11G	probably damaging	Het
Cadm4	T	C	7: 24,198,986 (GRCm39)	V87A	probably benign	Het
Cd177	A	G	7: 24,451,777 (GRCm39)	I413T	probably benign	Het
Col5a2	A	G	1: 45,430,230 (GRCm39)		probably null	Het
Dera	C	T	6: 137,807,269 (GRCm39)	A239V	probably damaging	Het
Ecm1	T	C	3: 95,643,499 (GRCm39)	E283G	probably damaging	Het
Eml6	G	T	11: 29,709,066 (GRCm39)	H24N	probably benign	Het
Etl4	A	G	2: 20,811,240 (GRCm39)	K1425E	possibly damaging	Het
Fgd3	G	A	13: 49,450,225 (GRCm39)	S8L	possibly damaging	Het
Gli1	T	C	10: 127,172,369 (GRCm39)	E228G	probably benign	Het
Hivep3	A	G	4: 119,990,771 (GRCm39)		probably benign	Het
Iqcc	A	G	4: 129,512,818 (GRCm39)	S11P	probably damaging	Het
Itpkc	G	A	7: 26,927,300 (GRCm39)	Q205*	probably null	Het
Jmjd1c	T	A	10: 67,056,171 (GRCm39)	S530R	possibly damaging	Het
Kcnq1	A	G	7: 142,737,453 (GRCm39)	H257R	possibly damaging	Het
Kcnt2	G	A	1: 140,304,121 (GRCm39)	V164I	probably benign	Het
Lgr5	T	C	10: 115,288,763 (GRCm39)	H603R	possibly damaging	Het
Lrp2	T	C	2: 69,343,723 (GRCm39)		probably null	Het
Lrrn2	A	G	1: 132,865,555 (GRCm39)	M207V	possibly damaging	Het
Miip	A	G	4: 147,949,735 (GRCm39)		probably benign	Het
Mrps35	T	C	6: 146,949,808 (GRCm39)		probably benign	Het
Nuf2	A	T	1: 169,341,069 (GRCm39)	M184K	probably benign	Het
Or10q1	C	A	19: 13,727,165 (GRCm39)	R232S	probably benign	Het
Or14j2	C	T	17: 37,886,249 (GRCm39)	E22K	probably benign	Het
Or2f2	A	G	6: 42,767,398 (GRCm39)	T142A	probably benign	Het
Or4a15	A	T	2: 89,193,172 (GRCm39)	N200K	probably damaging	Het
Or8g32	A	T	9: 39,305,830 (GRCm39)	I248F	probably damaging	Het
Os9	T	C	10: 126,956,861 (GRCm39)	I42V	possibly damaging	Het
Rapgef4	A	C	2: 72,010,405 (GRCm39)	Q177P	probably damaging	Het
Rhpn2	T	C	7: 35,070,536 (GRCm39)		probably benign	Het
Scn5a	T	C	9: 119,314,958 (GRCm39)	R1916G	probably damaging	Het
Serpine1	T	A	5: 137,095,889 (GRCm39)		probably benign	Het
Snd1	C	T	6: 28,880,278 (GRCm39)	P684L	possibly damaging	Het
Tgds	T	C	14: 118,350,534 (GRCm39)	N340D	probably benign	Het
Trpc4	A	T	3: 54,223,075 (GRCm39)	Y706F	possibly damaging	Het
Ttn	T	A	2: 76,584,166 (GRCm39)	D22314V	probably damaging	Het
Utrn	G	A	10: 12,519,163 (GRCm39)	T2263I	probably damaging	Het
Vmn1r11	A	T	6: 57,115,022 (GRCm39)	T229S	possibly damaging	Het
Zfp142	T	G	1: 74,609,022 (GRCm39)	H1488P	probably damaging	Het
Zfp629	T	A	7: 127,211,042 (GRCm39)	T256S	probably benign	Het

Other mutations in Zfp219

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5244:Zfp219	UTSW	14	52,245,999 (GRCm39)	missense	possibly damaging	0.64
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

Posted On

2015-04-16