Mutagenetix > Incidental Mutation

Incidental Mutation 'R7011:Zfp619'

545014

Institutional Source

Beutler Lab

Gene Symbol

Zfp619

Ensembl Gene

ENSMUSG00000068959

Gene Name

zinc finger protein 619

Synonyms

3000002G13Rik

MMRRC Submission

045112-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R7011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39167190-39189844 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39187186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1072 (H1072L)

Ref Sequence

ENSEMBL: ENSMUSP00000103650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108015]

AlphaFold

G3X9T2

Predicted Effect

probably damaging
Transcript: ENSMUST00000108015
AA Change: H1072L

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

SMART Domains

Protein: ENSMUSP00000103650
Gene: ENSMUSG00000068959
AA Change: H1072L

Domain	Start	End	E-Value	Type
KRAB	4	61	2.19e-20	SMART
ZnF_C2H2	218	240	2.91e-2	SMART
ZnF_C2H2	246	268	5.81e-2	SMART
ZnF_C2H2	274	296	3.16e-3	SMART
ZnF_C2H2	302	324	2.4e-3	SMART
ZnF_C2H2	330	352	2.95e-3	SMART
ZnF_C2H2	358	380	6.32e-3	SMART
ZnF_C2H2	386	408	8.47e-4	SMART
ZnF_C2H2	414	436	5.06e-2	SMART
ZnF_C2H2	442	464	1.58e-3	SMART
ZnF_C2H2	470	492	5.42e-2	SMART
ZnF_C2H2	526	548	2.09e-3	SMART
ZnF_C2H2	554	576	3.39e-3	SMART
ZnF_C2H2	582	604	1.56e-2	SMART
ZnF_C2H2	610	632	2.24e-3	SMART
ZnF_C2H2	638	660	4.72e-2	SMART
ZnF_C2H2	666	688	7.78e-3	SMART
ZnF_C2H2	694	716	5.9e-3	SMART
ZnF_C2H2	722	744	1.12e-3	SMART
ZnF_C2H2	748	770	6.42e-4	SMART
ZnF_C2H2	776	798	1.38e-3	SMART
ZnF_C2H2	804	826	9.44e-2	SMART
ZnF_C2H2	832	854	2.36e-2	SMART
ZnF_C2H2	860	882	8.94e-3	SMART
ZnF_C2H2	888	910	3.58e-2	SMART
ZnF_C2H2	916	938	6.42e-4	SMART
ZnF_C2H2	942	964	4.72e-2	SMART
ZnF_C2H2	970	992	2.3e-5	SMART
ZnF_C2H2	998	1020	8.34e-3	SMART
ZnF_C2H2	1026	1048	8.81e-2	SMART
ZnF_C2H2	1054	1076	1.69e-3	SMART
ZnF_C2H2	1082	1104	6.32e-3	SMART
ZnF_C2H2	1110	1132	1.47e-3	SMART
ZnF_C2H2	1138	1160	7.15e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (66/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc finger proteins (ZNFs), such as ZNF208, bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. A conserved protein motif, termed the Kruppel-associated box (KRAB) domain, mediates protein-protein interactions (Eichler et al., 1998 [PubMed 9724325]). See ZNF91 (MIM 603971) for further information on ZNFs.[supplied by OMIM, Aug 2009]

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	C	T	11: 46,033,845 (GRCm39)	P886S	probably benign	Het
Anapc1	C	T	2: 128,490,601 (GRCm39)		probably null	Het
Ankrd34c	C	A	9: 89,611,001 (GRCm39)	G447*	probably null	Het
Apbb1ip	A	T	2: 22,725,943 (GRCm39)	E238D	probably damaging	Het
Arfgap1	T	C	2: 180,613,935 (GRCm39)	L110P	probably damaging	Het
Arhgap21	G	A	2: 20,853,689 (GRCm39)	T1901I	possibly damaging	Het
Brpf1	C	A	6: 113,295,427 (GRCm39)	Q679K	probably benign	Het
Btnl2	A	G	17: 34,582,487 (GRCm39)	E351G	probably damaging	Het
Cd209f	T	A	8: 4,154,859 (GRCm39)	T80S	probably benign	Het
Cdc16	A	G	8: 13,819,451 (GRCm39)	E349G	probably damaging	Het
Cfap53	A	T	18: 74,462,564 (GRCm39)	D436V	probably benign	Het
Crhr2	A	T	6: 55,076,195 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,388,887 (GRCm39)	K226E	probably damaging	Het
Ddr2	A	T	1: 169,809,672 (GRCm39)	D768E	probably damaging	Het
Dhx8	T	C	11: 101,632,346 (GRCm39)	L435P	probably damaging	Het
Dnah11	AGGCC	AGGCCGGCC	12: 117,885,753 (GRCm39)		probably null	Het
Eif4ebp1	G	A	8: 27,763,372 (GRCm39)	R55Q	probably damaging	Het
Fbh1	T	A	2: 11,767,774 (GRCm39)	D358V	probably damaging	Het
Fra10ac1	T	A	19: 38,177,242 (GRCm39)	E304D	probably benign	Het
Gabrb2	T	C	11: 42,517,488 (GRCm39)	S399P	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gprin2	G	T	14: 33,917,393 (GRCm39)	H126N	probably null	Het
Gucy1a1	A	G	3: 82,016,422 (GRCm39)	S189P	probably damaging	Het
Htr1d	T	C	4: 136,170,317 (GRCm39)	M182T	probably benign	Het
Lipc	A	G	9: 70,726,236 (GRCm39)	F73L	probably benign	Het
Liph	A	G	16: 21,802,847 (GRCm39)	I74T	probably damaging	Het
Lrif1	T	G	3: 106,639,601 (GRCm39)	Y229D	probably damaging	Het
Magel2	C	T	7: 62,028,281 (GRCm39)	T395I	possibly damaging	Het
Magi3	T	C	3: 104,013,070 (GRCm39)	N139S	probably damaging	Het
Man2c1	T	A	9: 57,045,117 (GRCm39)	V336E	probably damaging	Het
Mapk12	A	T	15: 89,019,803 (GRCm39)	Y135N	probably damaging	Het
Mapkapk3	C	T	9: 107,166,595 (GRCm39)		probably benign	Het
Mast1	A	T	8: 85,638,574 (GRCm39)	Y653*	probably null	Het
Muc16	T	A	9: 18,548,839 (GRCm39)	H5818L	probably benign	Het
Muc16	T	A	9: 18,548,747 (GRCm39)	I5849F	probably benign	Het
Ndufa10	A	G	1: 92,398,581 (GRCm39)	S68P	probably damaging	Het
Nedd1	C	A	10: 92,526,635 (GRCm39)	L503F	probably benign	Het
Nr1i3	A	G	1: 171,041,927 (GRCm39)	M4V	probably benign	Het
Or12e9	G	A	2: 87,202,604 (GRCm39)	A243T	possibly damaging	Het
Or2av9	T	A	11: 58,380,970 (GRCm39)	I204F	possibly damaging	Het
Or4f14b	A	T	2: 111,775,031 (GRCm39)	F257I	probably benign	Het
Or9i2	T	C	19: 13,816,403 (GRCm39)	I45V	probably benign	Het
Pcdh18	A	T	3: 49,709,231 (GRCm39)	S695T	probably benign	Het
Pcdha1	T	C	18: 37,063,588 (GRCm39)	I84T	probably damaging	Het
Plek	T	A	11: 16,944,760 (GRCm39)	D90V	possibly damaging	Het
Ppp6r1	A	G	7: 4,649,825 (GRCm39)	C47R	probably damaging	Het
Psg27	G	C	7: 18,290,798 (GRCm39)	N468K	probably benign	Het
Ptchd4	G	A	17: 42,814,759 (GRCm39)	E887K	probably benign	Het
Rabgap1	C	T	2: 37,430,492 (GRCm39)	L678F	probably damaging	Het
Rmdn3	T	C	2: 118,968,904 (GRCm39)	Y429C	probably damaging	Het
Ros1	A	T	10: 52,056,272 (GRCm39)	C73S	probably damaging	Het
Rtkn2	G	A	10: 67,815,495 (GRCm39)		probably benign	Het
Slc25a42	A	G	8: 70,639,352 (GRCm39)	S242P	probably damaging	Het
Smtnl1	T	A	2: 84,648,753 (GRCm39)	D167V	probably benign	Het
Smurf2	A	G	11: 106,724,610 (GRCm39)	L511P	probably benign	Het
Stbd1	A	T	5: 92,752,977 (GRCm39)	K156*	probably null	Het
Tenm4	G	T	7: 96,545,342 (GRCm39)	G2453*	probably null	Het
Tent4a	C	T	13: 69,648,199 (GRCm39)	G489S	probably damaging	Het
Tpr	A	G	1: 150,309,523 (GRCm39)	K1760E	probably damaging	Het
Triobp	T	A	15: 78,862,923 (GRCm39)	L1427Q	probably damaging	Het
Uaca	A	G	9: 60,777,650 (GRCm39)	E679G	probably damaging	Het
Ucn3	T	G	13: 3,991,421 (GRCm39)	H77P	possibly damaging	Het
Wnk2	T	A	13: 49,224,567 (GRCm39)	D998V	probably damaging	Het
Xrcc3	A	G	12: 111,770,969 (GRCm39)	V320A	probably damaging	Het
Zdbf2	A	G	1: 63,345,925 (GRCm39)	T1435A	possibly damaging	Het
Zfp36l2	G	T	17: 84,493,861 (GRCm39)	H259N	possibly damaging	Het
Zfy2	T	A	Y: 2,107,127 (GRCm39)	E502D	possibly damaging	Het
Zfyve16	G	A	13: 92,658,495 (GRCm39)	P472L	probably benign	Het

Other mutations in Zfp619

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02157:Zfp619	APN	7	39,184,288 (GRCm39)	missense	probably damaging	1.00
IGL02221:Zfp619	APN	7	39,186,334 (GRCm39)	missense	probably benign	0.00
IGL02625:Zfp619	APN	7	39,183,609 (GRCm39)	splice site	probably benign
3-1:Zfp619	UTSW	7	39,186,189 (GRCm39)	missense	probably damaging	1.00
R0035:Zfp619	UTSW	7	39,186,706 (GRCm39)	missense	probably damaging	1.00
R0035:Zfp619	UTSW	7	39,186,706 (GRCm39)	missense	probably damaging	1.00
R0113:Zfp619	UTSW	7	39,187,183 (GRCm39)	missense	probably benign	0.01
R0377:Zfp619	UTSW	7	39,186,221 (GRCm39)	nonsense	probably null
R0614:Zfp619	UTSW	7	39,187,099 (GRCm39)	missense	possibly damaging	0.79
R0848:Zfp619	UTSW	7	39,185,983 (GRCm39)	missense	probably damaging	1.00
R1157:Zfp619	UTSW	7	39,186,282 (GRCm39)	missense	probably damaging	0.98
R2047:Zfp619	UTSW	7	39,187,062 (GRCm39)	missense	probably damaging	0.99
R2074:Zfp619	UTSW	7	39,184,185 (GRCm39)	missense	probably benign	0.00
R2419:Zfp619	UTSW	7	39,185,307 (GRCm39)	missense	possibly damaging	0.71
R2571:Zfp619	UTSW	7	39,186,595 (GRCm39)	missense	probably damaging	1.00
R2890:Zfp619	UTSW	7	39,184,393 (GRCm39)	missense	probably benign	0.00
R3814:Zfp619	UTSW	7	39,184,823 (GRCm39)	missense	probably benign	0.01
R4003:Zfp619	UTSW	7	39,186,730 (GRCm39)	missense	possibly damaging	0.91
R4059:Zfp619	UTSW	7	39,184,823 (GRCm39)	missense	probably benign	0.01
R4503:Zfp619	UTSW	7	39,186,280 (GRCm39)	missense	probably damaging	1.00
R4664:Zfp619	UTSW	7	39,183,559 (GRCm39)	missense	probably benign	0.00
R4696:Zfp619	UTSW	7	39,186,412 (GRCm39)	missense	probably benign	0.00
R4895:Zfp619	UTSW	7	39,187,396 (GRCm39)	missense	possibly damaging	0.68
R4975:Zfp619	UTSW	7	39,186,504 (GRCm39)	missense	possibly damaging	0.90
R4977:Zfp619	UTSW	7	39,186,811 (GRCm39)	missense	probably damaging	1.00
R5049:Zfp619	UTSW	7	39,184,938 (GRCm39)	missense	probably benign	0.02
R5240:Zfp619	UTSW	7	39,186,642 (GRCm39)	missense	possibly damaging	0.68
R5468:Zfp619	UTSW	7	39,185,152 (GRCm39)	missense	unknown
R5546:Zfp619	UTSW	7	39,184,577 (GRCm39)	missense	probably benign	0.01
R5572:Zfp619	UTSW	7	39,184,663 (GRCm39)	missense	probably benign	0.01
R6106:Zfp619	UTSW	7	39,184,558 (GRCm39)	missense	probably benign	0.01
R6329:Zfp619	UTSW	7	39,186,969 (GRCm39)	missense	probably damaging	1.00
R6354:Zfp619	UTSW	7	39,184,243 (GRCm39)	missense	probably benign	0.02
R6395:Zfp619	UTSW	7	39,186,454 (GRCm39)	missense	possibly damaging	0.91
R6490:Zfp619	UTSW	7	39,183,586 (GRCm39)	missense	probably benign	0.00
R6560:Zfp619	UTSW	7	39,186,954 (GRCm39)	missense	probably damaging	1.00
R6713:Zfp619	UTSW	7	39,187,322 (GRCm39)	missense	probably damaging	0.99
R7022:Zfp619	UTSW	7	39,184,387 (GRCm39)	missense	probably benign	0.00
R7046:Zfp619	UTSW	7	39,186,787 (GRCm39)	missense	possibly damaging	0.95
R7206:Zfp619	UTSW	7	39,184,824 (GRCm39)	missense	probably benign	0.00
R7780:Zfp619	UTSW	7	39,184,432 (GRCm39)	missense	possibly damaging	0.68
R7787:Zfp619	UTSW	7	39,186,226 (GRCm39)	missense	possibly damaging	0.91
R8001:Zfp619	UTSW	7	39,184,645 (GRCm39)	missense	probably benign	0.29
R8559:Zfp619	UTSW	7	39,186,559 (GRCm39)	missense	probably benign	0.31
R8775:Zfp619	UTSW	7	39,184,639 (GRCm39)	missense	possibly damaging	0.75
R8775-TAIL:Zfp619	UTSW	7	39,184,639 (GRCm39)	missense	possibly damaging	0.75
R9014:Zfp619	UTSW	7	39,187,246 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCGGGTTACCTTCGAATTCATG -3'
(R):5'- CCAAATGAATCCTTCTAAACTTTCCA -3'

Sequencing Primer
(F):5'- TAAGGCCTTCAGAAGTCAGAGTTCC -3'
(R):5'- GACAAGTAAAGGCTTTCCTGCAGTC -3'

Posted On

2019-05-13