Mutagenetix > Incidental Mutation

Incidental Mutation 'R7787:Zfp619'

599590

Institutional Source

Beutler Lab

Gene Symbol

Zfp619

Ensembl Gene

ENSMUSG00000068959

Gene Name

zinc finger protein 619

Synonyms

3000002G13Rik

MMRRC Submission

045843-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R7787 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39167190-39189844 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39186226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 752 (Q752R)

Ref Sequence

ENSEMBL: ENSMUSP00000103650 (fasta)

Gene Model

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

AlphaFold

G3X9T2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108015
AA Change: Q752R

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103650
Gene: ENSMUSG00000068959
AA Change: Q752R

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: 99.8%
20x: 99.3%

Validation Efficiency

100% (74/74)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,263,926 (GRCm39)	I38N	probably damaging	Het
Abcb4	G	A	5: 8,959,220 (GRCm39)	V216M	probably damaging	Het
Abcc2	G	A	19: 43,772,685 (GRCm39)	V32M	probably damaging	Het
Adgrb3	C	A	1: 25,471,625 (GRCm39)	V714F	probably damaging	Het
Ahnak	T	A	19: 8,986,679 (GRCm39)	D2654E	unknown	Het
Ak8	T	A	2: 28,602,324 (GRCm39)	I86N	probably damaging	Het
Apob	G	A	12: 8,040,780 (GRCm39)	R635Q	probably damaging	Het
Atp10b	G	A	11: 43,150,700 (GRCm39)	R1466H	possibly damaging	Het
Bltp1	A	C	3: 36,939,557 (GRCm39)	H137P	probably damaging	Het
Btnl9	T	C	11: 49,066,866 (GRCm39)	T252A	unknown	Het
Cacna1e	T	A	1: 154,358,314 (GRCm39)	I648F	probably damaging	Het
Camkk1	A	G	11: 72,917,412 (GRCm39)	D121G	probably benign	Het
Cc2d1a	C	A	8: 84,860,144 (GRCm39)	Q904H	possibly damaging	Het
Cd1d1	A	G	3: 86,904,903 (GRCm39)	S212P	probably damaging	Het
Cfap69	C	T	5: 5,639,260 (GRCm39)	C638Y	probably damaging	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Clca4a	A	G	3: 144,659,594 (GRCm39)	V754A	probably benign	Het
Cnpy4	T	A	5: 138,190,900 (GRCm39)	H187Q	probably benign	Het
Cpne5	A	T	17: 29,407,261 (GRCm39)		probably null	Het
Crnkl1	A	T	2: 145,767,515 (GRCm39)	N359K	probably benign	Het
Cyb561	A	T	11: 105,828,466 (GRCm39)	L63H	probably damaging	Het
Dock4	A	G	12: 40,775,676 (GRCm39)	T540A	probably benign	Het
Edc4	T	A	8: 106,614,146 (GRCm39)	Y7*	probably null	Het
Fstl5	A	C	3: 76,337,131 (GRCm39)	D230A	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hecw1	T	C	13: 14,493,494 (GRCm39)	Q337R	probably damaging	Het
Hmcn1	A	T	1: 150,632,343 (GRCm39)	Y865N	probably damaging	Het
Hyal6	A	G	6: 24,743,735 (GRCm39)	Y477C	probably damaging	Het
Ifi205	C	T	1: 173,842,640 (GRCm39)	G352E	probably damaging	Het
Ifi205	T	A	1: 173,842,644 (GRCm39)	S351C	probably damaging	Het
Irak3	C	A	10: 120,012,256 (GRCm39)	Q169H	probably benign	Het
Itgb1	T	A	8: 129,453,499 (GRCm39)	N99K	probably benign	Het
Kng2	A	G	16: 22,818,598 (GRCm39)	F298S	probably damaging	Het
Kri1	T	C	9: 21,192,380 (GRCm39)	E256G		Het
Lamc3	T	C	2: 31,790,551 (GRCm39)	I257T	probably damaging	Het
Mas1	A	C	17: 13,061,374 (GRCm39)	N16K	possibly damaging	Het
Mdn1	T	A	4: 32,741,794 (GRCm39)	L3855Q	probably damaging	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Mybph	G	A	1: 134,125,246 (GRCm39)	G258D	probably benign	Het
Mycbp2	A	C	14: 103,364,533 (GRCm39)	H4358Q	probably damaging	Het
Nat10	T	C	2: 103,552,208 (GRCm39)	D1012G	unknown	Het
Nub1	C	A	5: 24,913,801 (GRCm39)	Q561K	probably benign	Het
Nynrin	A	G	14: 56,107,980 (GRCm39)	N1029S	probably benign	Het
Or52x1	A	T	7: 104,853,252 (GRCm39)	C99*	probably null	Het
Or56a4	T	G	7: 104,806,401 (GRCm39)	I163L	probably benign	Het
Or5k15	A	G	16: 58,709,953 (GRCm39)	F210S	probably benign	Het
Or6e1	A	G	14: 54,520,169 (GRCm39)	L61P	probably damaging	Het
Or8g19	C	T	9: 39,055,548 (GRCm39)	L51F	probably benign	Het
Pcsk1	T	A	13: 75,280,277 (GRCm39)	Y701N	possibly damaging	Het
Pglyrp4	C	G	3: 90,640,295 (GRCm39)	H182D	probably damaging	Het
Phaf1	T	G	8: 105,957,820 (GRCm39)	V42G	probably damaging	Het
Pkp4	C	A	2: 59,152,881 (GRCm39)	D576E	probably damaging	Het
Plec	A	G	15: 76,083,811 (GRCm39)	V17A	unknown	Het
Polq	T	A	16: 36,837,671 (GRCm39)	N194K	probably damaging	Het
Pou4f1	A	T	14: 104,703,460 (GRCm39)	M324K	unknown	Het
Ppa2	G	T	3: 133,036,259 (GRCm39)	G138W	probably damaging	Het
Prob1	A	T	18: 35,785,285 (GRCm39)	F990I	possibly damaging	Het
Proser1	T	A	3: 53,380,969 (GRCm39)	I182N	probably damaging	Het
Sgk3	T	C	1: 9,952,016 (GRCm39)	L214P	probably damaging	Het
Sipa1l1	T	C	12: 82,496,762 (GRCm39)	S1765P	possibly damaging	Het
Slc15a2	G	A	16: 36,572,228 (GRCm39)	S712L	probably benign	Het
Slc38a9	T	C	13: 112,825,880 (GRCm39)	L106P	probably damaging	Het
Slc43a2	G	A	11: 75,453,900 (GRCm39)	R271H	probably damaging	Het
Spsb4	T	A	9: 96,877,643 (GRCm39)	I227F	probably damaging	Het
Srgap3	C	T	6: 112,752,520 (GRCm39)	M321I	probably benign	Het
Stam2	T	C	2: 52,596,418 (GRCm39)	I340V	probably benign	Het
Tbc1d5	T	A	17: 51,181,711 (GRCm39)	R341*	probably null	Het
Terf2ip	A	C	8: 112,742,087 (GRCm39)	E260D	probably damaging	Het
Tert	G	T	13: 73,797,051 (GRCm39)	K1096N	probably damaging	Het
Ttc32	T	A	12: 9,088,083 (GRCm39)	D103E	probably benign	Het
Ube3d	T	A	9: 86,254,395 (GRCm39)	Q362L	possibly damaging	Het
Unc5c	G	A	3: 141,474,313 (GRCm39)	G295D	probably damaging	Het
Wnt7b	T	A	15: 85,428,112 (GRCm39)	I117F	probably damaging	Het
Zcchc7	T	C	4: 44,895,043 (GRCm39)		probably null	Het
Zkscan3	T	C	13: 21,572,034 (GRCm39)	K533E	possibly damaging	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
R7011:Zfp619	UTSW	7	39,187,186 (GRCm39)	missense	probably damaging	1.00
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
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'- AACTCTGCGGGAAAGCTTT -3'
(R):5'- GCTTTTCTGCAGTGTGAGAC -3'

Sequencing Primer
(F):5'- CCGGTGAAAAACCCTATG -3'
(R):5'- GAAGGACTTAGCGCATTGC -3'

Posted On

2019-11-26