Mutagenetix > Incidental Mutation

Incidental Mutation 'R6329:Zfp619'

509393

Institutional Source

Beutler Lab

Gene Symbol

Zfp619

Ensembl Gene

ENSMUSG00000068959

Gene Name

zinc finger protein 619

Synonyms

3000002G13Rik

MMRRC Submission

044483-MU

Accession Numbers

Essential gene?

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

Stock #

R6329 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39167190-39189844 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39186969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1000 (C1000S)

Ref Sequence

ENSEMBL: ENSMUSP00000103650 (fasta)

Gene Model

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

AlphaFold

G3X9T2

Predicted Effect

probably damaging
Transcript: ENSMUST00000108015
AA Change: C1000S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103650
Gene: ENSMUSG00000068959
AA Change: C1000S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191753

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

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
4930579F01Rik	T	C	3: 137,879,457 (GRCm39)	H72R	probably damaging	Het
Abca13	A	T	11: 9,227,937 (GRCm39)	N660I	probably damaging	Het
Actr8	C	T	14: 29,715,041 (GRCm39)	R619*	probably null	Het
Adam18	C	A	8: 25,104,843 (GRCm39)	G657V	probably damaging	Het
Adcyap1	A	G	17: 93,510,227 (GRCm39)	E85G	probably benign	Het
Akr1c14	A	G	13: 4,137,302 (GRCm39)	Y305C	probably damaging	Het
Ankdd1b	T	A	13: 96,591,388 (GRCm39)	H37L	possibly damaging	Het
Ap4e1	T	C	2: 126,903,636 (GRCm39)	L846P	probably benign	Het
Aqp9	A	T	9: 71,039,966 (GRCm39)	Y105*	probably null	Het
Arid1b	C	T	17: 5,387,538 (GRCm39)	Q1664*	probably null	Het
Aup1	A	G	6: 83,031,588 (GRCm39)		probably benign	Het
Bnip1	C	A	17: 27,005,684 (GRCm39)	S64*	probably null	Het
Calcr	T	A	6: 3,687,621 (GRCm39)	Q422L	probably damaging	Het
Ccdc162	T	A	10: 41,539,147 (GRCm39)	D407V	possibly damaging	Het
Ccdc66	G	T	14: 27,208,441 (GRCm39)	S760R	probably benign	Het
Cd22	T	A	7: 30,577,193 (GRCm39)	E38V	probably damaging	Het
Cggbp1	T	C	16: 64,676,383 (GRCm39)	Y150H	probably damaging	Het
Chd3	T	C	11: 69,252,510 (GRCm39)	K263R	possibly damaging	Het
Col4a2	T	A	8: 11,496,238 (GRCm39)	F1620I	probably damaging	Het
Col6a2	T	C	10: 76,435,662 (GRCm39)	T858A	probably benign	Het
Dnah7a	T	A	1: 53,580,273 (GRCm39)	D1554V	probably damaging	Het
Dnajc25	A	T	4: 59,013,678 (GRCm39)	Q132L	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Ehbp1l1	A	C	19: 5,768,795 (GRCm39)	I836S	possibly damaging	Het
Elf1	A	G	14: 79,810,779 (GRCm39)	Q288R	possibly damaging	Het
Fbn1	C	A	2: 125,150,393 (GRCm39)	V2608L	possibly damaging	Het
Frmpd1	T	C	4: 45,268,551 (GRCm39)	I232T	possibly damaging	Het
Fuca1	T	A	4: 135,662,137 (GRCm39)	I355N	probably damaging	Het
Gcnt4	A	G	13: 97,083,781 (GRCm39)	D359G	probably damaging	Het
Gm5134	T	C	10: 75,790,494 (GRCm39)	M30T	possibly damaging	Het
Grk1	T	G	8: 13,455,704 (GRCm39)	L196R	probably damaging	Het
Igkv14-126	A	C	6: 67,873,548 (GRCm39)	D92A	probably damaging	Het
Kmt2c	A	G	5: 25,520,600 (GRCm39)	S1837P	probably benign	Het
Lhx4	T	A	1: 155,578,300 (GRCm39)	T281S	probably benign	Het
Lrrc55	G	T	2: 85,026,653 (GRCm39)	H124N	probably benign	Het
Marchf8	T	A	6: 116,383,277 (GRCm39)	I566N	possibly damaging	Het
Mycbp2	G	A	14: 103,393,288 (GRCm39)	A3091V	probably benign	Het
Nlrp4b	A	G	7: 10,458,847 (GRCm39)	N355S	probably benign	Het
Nmur2	A	G	11: 55,920,411 (GRCm39)	V278A	probably benign	Het
Nod1	T	C	6: 54,921,689 (GRCm39)	M210V	probably benign	Het
Nt5c1b	T	A	12: 10,422,138 (GRCm39)	C63*	probably null	Het
Or1e1f	A	G	11: 73,855,568 (GRCm39)	I45V	possibly damaging	Het
Or1j17	A	T	2: 36,578,694 (GRCm39)	K227*	probably null	Het
Or4g7	C	T	2: 111,309,573 (GRCm39)	A148V	possibly damaging	Het
Or5d37	G	A	2: 87,924,008 (GRCm39)	P91S	probably damaging	Het
Or7g21	A	C	9: 19,032,253 (GRCm39)	M1L	probably benign	Het
Or8b37	T	C	9: 37,959,121 (GRCm39)	V201A	probably benign	Het
Or8g24	C	T	9: 38,989,199 (GRCm39)	V281I	probably benign	Het
Osbp2	T	A	11: 3,665,153 (GRCm39)	S517C	probably damaging	Het
Pcdha1	C	T	18: 37,065,301 (GRCm39)	P655L	probably damaging	Het
Pdcd6	A	G	13: 74,452,098 (GRCm39)	Y181H	probably damaging	Het
Perp	G	A	10: 18,731,502 (GRCm39)	G154S	probably damaging	Het
Perp	G	T	10: 18,731,503 (GRCm39)	G154V	probably damaging	Het
Pira13	T	C	7: 3,825,850 (GRCm39)	T340A	probably damaging	Het
Prokr1	T	G	6: 87,558,774 (GRCm39)	T204P	possibly damaging	Het
Prpf3	A	T	3: 95,739,890 (GRCm39)	C630S	probably damaging	Het
Pter	C	A	2: 12,985,359 (GRCm39)	H230N	probably damaging	Het
Ptprs	A	T	17: 56,724,427 (GRCm39)	Y1167*	probably null	Het
Rad54l2	T	C	9: 106,595,121 (GRCm39)	I279V	possibly damaging	Het
Rora	T	A	9: 69,280,468 (GRCm39)	L347Q	probably damaging	Het
Runx1t1	T	G	4: 13,785,136 (GRCm39)	M1R	probably null	Het
Sdcbp	A	G	4: 6,381,064 (GRCm39)	S70G	probably benign	Het
Serpinb12	A	G	1: 106,881,493 (GRCm39)	Y210C	probably damaging	Het
Sipa1	T	C	19: 5,701,517 (GRCm39)	E1015G	probably damaging	Het
Slc15a2	A	C	16: 36,572,144 (GRCm39)	L740R	possibly damaging	Het
Specc1	A	G	11: 62,047,379 (GRCm39)	E916G	probably damaging	Het
Spta1	T	C	1: 174,041,743 (GRCm39)	I1371T	possibly damaging	Het
Tagln3	T	C	16: 45,533,365 (GRCm39)	M130V	probably benign	Het
Tchh	A	T	3: 93,353,752 (GRCm39)	E1064V	unknown	Het
Tdp1	A	T	12: 99,880,330 (GRCm39)	S464C	probably damaging	Het
Tdp1	G	C	12: 99,880,331 (GRCm39)	S464T	probably benign	Het
Tenm3	T	C	8: 48,729,884 (GRCm39)	Y1374C	probably damaging	Het
Tmprss3	A	T	17: 31,402,833 (GRCm39)	Y455*	probably null	Het
Ttc5	A	G	14: 51,003,385 (GRCm39)	V433A	possibly damaging	Het
Wnt5a	A	T	14: 28,240,449 (GRCm39)	R180*	probably null	Het
Zfp53	A	G	17: 21,728,372 (GRCm39)	D135G	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably 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
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
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'- GTGCGGGTTACCTTCGAATT -3'
(R):5'- ATGAATCCTTCTAAACTTTCCATAGCA -3'

Sequencing Primer
(F):5'- ACACACAGTGGTTTCTATGAGTG -3'
(R):5'- ACTTCGGAAGGCTTTAGCAC -3'

Posted On

2018-04-02