Mutagenetix > Incidental Mutation

Incidental Mutation 'R9203:Zfp219'

698341

Institutional Source

Beutler Lab

Gene Symbol

Zfp219

Ensembl Gene

ENSMUSG00000049295

Gene Name

zinc finger protein 219

Synonyms

2010302A17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9203 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52243534-52258190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52246405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 241 (S241T)

Ref Sequence

ENSEMBL: ENSMUSP00000068184 (fasta)

Gene Model

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

AlphaFold

Q6IQX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000067549
AA Change: S241T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068184
Gene: ENSMUSG00000049295
AA Change: S241T

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: S241T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126854
Gene: ENSMUSG00000049295
AA Change: S241T

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

probably benign
Transcript: ENSMUST00000182667

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: ENSMUST00000182828

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 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 damaging
Transcript: ENSMUST00000226522
AA Change: S241T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000226527

Predicted Effect

probably benign
Transcript: ENSMUST00000226554

Predicted Effect

probably benign
Transcript: ENSMUST00000226605

Predicted Effect

probably benign
Transcript: ENSMUST00000226964

Predicted Effect

probably benign
Transcript: ENSMUST00000228051

Predicted Effect

probably benign
Transcript: ENSMUST00000228162

Predicted Effect

probably damaging
Transcript: ENSMUST00000228580
AA Change: S196T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000228747

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	T	C	2: 128,465,422 (GRCm39)	H1686R	possibly damaging	Het
Ankrd33b	A	G	15: 31,298,028 (GRCm39)	M243T	probably benign	Het
Appl1	G	T	14: 26,682,970 (GRCm39)	S104*	probably null	Het
Appl2	A	T	10: 83,476,879 (GRCm39)	Y48*	probably null	Het
Cacna1d	T	C	14: 29,773,669 (GRCm39)	N1694S	probably benign	Het
Cc2d2a	G	T	5: 43,891,179 (GRCm39)	D1372Y	probably benign	Het
Cdh4	C	T	2: 179,422,196 (GRCm39)	R107C	probably damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cfap54	T	G	10: 92,880,990 (GRCm39)	M358L	probably benign	Het
Csnka2ip	T	A	16: 64,298,630 (GRCm39)	D578V	unknown	Het
Ctns	T	C	11: 73,082,563 (GRCm39)	I56V	probably benign	Het
Dnah9	A	G	11: 65,746,113 (GRCm39)	I4000T	possibly damaging	Het
Dock2	A	G	11: 34,622,366 (GRCm39)	V91A	possibly damaging	Het
Dpep2	T	C	8: 106,712,885 (GRCm39)	H335R	probably damaging	Het
Eno1	C	T	4: 150,332,539 (GRCm39)	R400*	probably null	Het
Fam114a1	C	A	5: 65,137,300 (GRCm39)	P81H	probably damaging	Het
Gemin6	A	G	17: 80,535,237 (GRCm39)	T66A	probably benign	Het
Grm4	T	C	17: 27,653,980 (GRCm39)	I657V	probably benign	Het
H2ac22	T	C	13: 21,971,057 (GRCm39)	N111S	probably benign	Het
Has3	T	C	8: 107,600,852 (GRCm39)	C105R	probably damaging	Het
Hecw1	T	C	13: 14,491,243 (GRCm39)	E170G	probably benign	Het
Hoxd3	T	C	2: 74,576,744 (GRCm39)	V208A	probably damaging	Het
Hypk	C	T	2: 121,288,163 (GRCm39)	Q75*	probably null	Het
Itpkb	T	A	1: 180,161,004 (GRCm39)	W377R	probably benign	Het
Kbtbd2	A	T	6: 56,755,987 (GRCm39)	V583E	probably damaging	Het
Kdm5d	A	G	Y: 940,981 (GRCm39)	Y1122C	probably damaging	Het
Kif7	A	C	7: 79,354,472 (GRCm39)	L771R	probably damaging	Het
Krt9	C	G	11: 100,079,734 (GRCm39)	G553R	unknown	Het
Lama3	G	A	18: 12,595,869 (GRCm39)	A933T	probably benign	Het
Muc16	A	G	9: 18,462,984 (GRCm39)	I7406T	unknown	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Ntng2	G	T	2: 29,084,998 (GRCm39)	C535*	probably null	Het
Omg	A	G	11: 79,393,051 (GRCm39)	M269T	probably benign	Het
Or1x6	A	T	11: 50,939,161 (GRCm39)	T76S	possibly damaging	Het
Or52e3	A	T	7: 102,869,862 (GRCm39)	*312C	probably null	Het
Parp2	T	C	14: 51,056,850 (GRCm39)	S325P	probably benign	Het
Pclo	C	T	5: 14,728,528 (GRCm39)	T2462M	unknown	Het
Pi4ka	G	T	16: 17,100,165 (GRCm39)	H1912N		Het
Piezo2	T	C	18: 63,290,302 (GRCm39)	I152M	probably benign	Het
Pigv	A	T	4: 133,392,990 (GRCm39)	L60Q	probably damaging	Het
Plcz1	T	A	6: 139,953,481 (GRCm39)	K379*	probably null	Het
Poll	T	C	19: 45,542,091 (GRCm39)	N405S	probably benign	Het
Pou6f2	T	A	13: 18,303,615 (GRCm39)	I467F		Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
Psg26	T	C	7: 18,212,382 (GRCm39)	I324M	probably damaging	Het
Ptprh	T	A	7: 4,574,970 (GRCm39)	I350F	probably damaging	Het
Slpi	C	T	2: 164,196,817 (GRCm39)	V126I	probably benign	Het
Smarca5	C	T	8: 81,431,258 (GRCm39)	W986*	probably null	Het
Sorcs1	A	G	19: 50,250,733 (GRCm39)	I366T	probably damaging	Het
Sv2c	G	T	13: 96,224,745 (GRCm39)	S188*	probably null	Het
Sycp2	T	C	2: 177,996,906 (GRCm39)	K1099R	probably damaging	Het
Tdp2	C	A	13: 25,020,916 (GRCm39)	Y178*	probably null	Het
Trabd2b	A	G	4: 114,460,122 (GRCm39)	E420G	probably damaging	Het
Uggt2	A	T	14: 119,294,975 (GRCm39)	H550Q	probably benign	Het
Vmn2r66	T	C	7: 84,654,950 (GRCm39)	K453R	probably benign	Het
Vsig10l	A	G	7: 43,112,657 (GRCm39)	M1V	probably null	Het
Wdr70	G	A	15: 7,902,684 (GRCm39)	S646L	probably benign	Het
Zfp24	G	A	18: 24,147,326 (GRCm39)	H329Y	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
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
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'- GCATGATCAAAGGAGGCCTTG -3'
(R):5'- AAGGCAAGTTTCGCACCTC -3'

Sequencing Primer
(F):5'- CAAAGGAGGCCTTGTGCTTGC -3'
(R):5'- CACCTGCATATCCTGCA -3'

Posted On

2022-02-07