Mutagenetix > Incidental Mutation

Incidental Mutation 'R8725:Zfp219'

673208

Institutional Source

Beutler Lab

Gene Symbol

Zfp219

Ensembl Gene

ENSMUSG00000049295

Gene Name

zinc finger protein 219

Synonyms

2010302A17Rik

MMRRC Submission

068574-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8725 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52243534-52258190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52244899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 499 (T499A)

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

possibly damaging
Transcript: ENSMUST00000067549
AA Change: T499A

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000068184
Gene: ENSMUSG00000049295
AA Change: T499A

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: T499A

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126854
Gene: ENSMUSG00000049295
AA Change: T499A

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

possibly damaging
Transcript: ENSMUST00000226522
AA Change: T499A

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

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

possibly damaging
Transcript: ENSMUST00000228580
AA Change: T454A

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000228747

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	A	14: 103,287,075 (GRCm39)	W69R	probably damaging	Het
Adamtsl4	C	T	3: 95,584,426 (GRCm39)	R990Q	possibly damaging	Het
Ahdc1	T	A	4: 132,792,743 (GRCm39)	V1328E	possibly damaging	Het
Bpifb2	A	G	2: 153,731,356 (GRCm39)	H244R	possibly damaging	Het
Camk1	C	A	6: 113,315,109 (GRCm39)	V199L	probably damaging	Het
Ccdc18	A	T	5: 108,328,283 (GRCm39)	K661I	possibly damaging	Het
Cdh16	C	T	8: 105,344,874 (GRCm39)	V444I	probably benign	Het
Cep295	A	T	9: 15,243,715 (GRCm39)	Y1580*	probably null	Het
Cntnap5c	A	T	17: 58,362,663 (GRCm39)	N339Y	probably damaging	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Deup1	T	A	9: 15,503,721 (GRCm39)	D280V	probably damaging	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Evpl	T	A	11: 116,113,019 (GRCm39)	D1557V	probably benign	Het
Ext1	A	G	15: 53,208,065 (GRCm39)	V232A	possibly damaging	Het
Gdpd5	T	C	7: 99,105,726 (GRCm39)	I514T	possibly damaging	Het
Gm14443	A	T	2: 175,010,693 (GRCm39)	C584*	probably null	Het
Gm2696	T	A	10: 77,672,034 (GRCm39)	C78S	unknown	Het
Gm4131	T	C	14: 62,701,300 (GRCm39)	D276G	possibly damaging	Het
Gm5114	C	T	7: 39,060,657 (GRCm39)	G64D	probably benign	Het
Gsx2	G	T	5: 75,236,755 (GRCm39)	A112S	probably benign	Het
Hebp1	G	T	6: 135,114,919 (GRCm39)	R181S	probably damaging	Het
Hectd4	G	A	5: 121,488,557 (GRCm39)	G3616D	probably damaging	Het
Hemgn	T	G	4: 46,394,638 (GRCm39)	T491P	probably benign	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,636,721 (GRCm39)	S723P	unknown	Het
Kat6a	G	A	8: 23,398,293 (GRCm39)	G287D	probably damaging	Het
Ktn1	T	G	14: 47,907,757 (GRCm39)		probably benign	Het
Lrrc56	C	A	7: 140,778,246 (GRCm39)	D79E	possibly damaging	Het
Lrrn1	C	T	6: 107,544,303 (GRCm39)	Q34*	probably null	Het
Mlxipl	A	G	5: 135,157,483 (GRCm39)	M340V	probably benign	Het
Mroh6	T	C	15: 75,756,563 (GRCm39)	T604A	possibly damaging	Het
Or13a26	G	T	7: 140,284,607 (GRCm39)	V148L	probably benign	Het
Or1n1	T	A	2: 36,749,610 (GRCm39)	Y250F	probably damaging	Het
Or4c122	A	T	2: 89,079,658 (GRCm39)	S115T	probably benign	Het
Palb2	A	C	7: 121,710,884 (GRCm39)	V1022G	unknown	Het
Pank1	T	G	19: 34,855,989 (GRCm39)	H163P	possibly damaging	Het
Pcdha12	A	G	18: 37,154,736 (GRCm39)	Q485R	probably benign	Het
Pcdhb15	T	A	18: 37,608,734 (GRCm39)	S655R	probably damaging	Het
Pcdhgb1	T	A	18: 37,814,467 (GRCm39)	C319*	probably null	Het
Pipox	A	T	11: 77,774,804 (GRCm39)	L93*	probably null	Het
Pkd1l1	A	C	11: 8,911,482 (GRCm39)	V265G		Het
Pld3	G	A	7: 27,239,079 (GRCm39)	Q149*	probably null	Het
Pramel34	A	T	5: 93,784,316 (GRCm39)	Y383N	probably damaging	Het
Prpf3	T	A	3: 95,748,021 (GRCm39)	T415S	possibly damaging	Het
Rasgef1b	G	A	5: 99,447,895 (GRCm39)	T105I	unknown	Het
Rere	G	T	4: 150,701,792 (GRCm39)	E24*	probably null	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Ric3	A	T	7: 108,637,924 (GRCm39)	D277E	probably benign	Het
Rnf44	A	T	13: 54,831,826 (GRCm39)	M82K	probably damaging	Het
Rsph14	T	C	10: 74,795,516 (GRCm39)	N223S	probably benign	Het
Rusc2	A	G	4: 43,415,396 (GRCm39)	E234G	probably damaging	Het
Scfd2	T	C	5: 74,642,900 (GRCm39)	N349S	probably benign	Het
Sema3d	G	A	5: 12,555,822 (GRCm39)	C183Y	probably damaging	Het
Setd2	T	C	9: 110,402,912 (GRCm39)	I74T		Het
Slc39a12	T	C	2: 14,454,670 (GRCm39)	S563P	probably damaging	Het
Slc9a8	A	T	2: 167,315,454 (GRCm39)	D526V	probably damaging	Het
Smpdl3b	G	T	4: 132,461,060 (GRCm39)	T339N	probably damaging	Het
Speer1e	A	T	5: 11,236,408 (GRCm39)	Q147L	probably benign	Het
Spi1	G	A	2: 90,945,516 (GRCm39)	G199D	probably damaging	Het
Stx2	T	C	5: 129,070,564 (GRCm39)	T118A	probably damaging	Het
Synj2	C	A	17: 6,088,015 (GRCm39)	S1355R	possibly damaging	Het
Taf15	A	G	11: 83,389,964 (GRCm39)	T245A	probably benign	Het
Tnrc6b	C	T	15: 80,760,653 (GRCm39)	A120V	probably damaging	Het
Usp19	G	T	9: 108,370,934 (GRCm39)	G198W	probably damaging	Het
Wdtc1	G	T	4: 133,041,114 (GRCm39)	H46N	probably damaging	Het
Zbtb1	C	A	12: 76,432,646 (GRCm39)	R211S	probably damaging	Het
Zc3h8	A	G	2: 128,775,207 (GRCm39)	V151A	probably benign	Het
Zfp689	A	G	7: 127,047,940 (GRCm39)	F31L	probably damaging	Het
Zfp879	C	T	11: 50,729,321 (GRCm39)	D26N	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
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'- AAGGAGCAAACGCTGACTC -3'
(R):5'- TGTGGTTTCCTAAGGGTATTAACTC -3'

Sequencing Primer
(F):5'- GATGATCTTTCCAACCTGAAGGG -3'
(R):5'- AACTCTTTAACAAATCTATGTTCCCC -3'

Posted On

2021-04-30