Incidental Mutation 'R8775:Zfp619'
ID |
664660 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp619
|
Ensembl Gene |
ENSMUSG00000068959 |
Gene Name |
zinc finger protein 619 |
Synonyms |
3000002G13Rik |
MMRRC Submission |
068719-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R8775 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
39167190-39189844 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 39184639 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 223
(C223F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103650
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108015]
|
AlphaFold |
G3X9T2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108015
AA Change: C223F
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103650 Gene: ENSMUSG00000068959 AA Change: C223F
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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck2 |
T |
C |
6: 39,552,142 (GRCm39) |
|
probably null |
Het |
Alpk3 |
A |
C |
7: 80,727,598 (GRCm39) |
M243L |
probably benign |
Het |
Anapc1 |
A |
T |
2: 128,499,093 (GRCm39) |
Y860N |
possibly damaging |
Het |
Asprv1 |
T |
C |
6: 86,605,321 (GRCm39) |
S56P |
probably damaging |
Het |
D130043K22Rik |
G |
T |
13: 25,040,982 (GRCm39) |
E135* |
probably null |
Het |
Dnmt3b |
A |
G |
2: 153,511,711 (GRCm39) |
H293R |
possibly damaging |
Het |
Dsg1a |
C |
T |
18: 20,473,564 (GRCm39) |
S879L |
probably damaging |
Het |
Fbxo24 |
C |
T |
5: 137,611,213 (GRCm39) |
A526T |
possibly damaging |
Het |
Fign |
A |
T |
2: 63,810,891 (GRCm39) |
D126E |
probably benign |
Het |
Gpr137 |
A |
G |
19: 6,915,800 (GRCm39) |
F377L |
probably damaging |
Het |
Gsdma2 |
A |
G |
11: 98,540,009 (GRCm39) |
K44E |
probably damaging |
Het |
Iigp1 |
A |
C |
18: 60,523,596 (GRCm39) |
Y238S |
probably damaging |
Het |
Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
Kcnip2 |
T |
C |
19: 45,782,149 (GRCm39) |
N258S |
possibly damaging |
Het |
Lcat |
A |
G |
8: 106,669,023 (GRCm39) |
I84T |
possibly damaging |
Het |
Mansc1 |
C |
T |
6: 134,587,631 (GRCm39) |
R182H |
probably benign |
Het |
Myh4 |
T |
C |
11: 67,148,006 (GRCm39) |
M1685T |
probably benign |
Het |
Myo10 |
T |
A |
15: 25,800,145 (GRCm39) |
V1407E |
probably damaging |
Het |
Ncam2 |
T |
A |
16: 81,314,429 (GRCm39) |
N468K |
probably benign |
Het |
Nckap1 |
A |
G |
2: 80,375,410 (GRCm39) |
S297P |
probably benign |
Het |
Nefm |
T |
C |
14: 68,362,108 (GRCm39) |
Y52C |
probably damaging |
Het |
Ntng2 |
A |
T |
2: 29,117,976 (GRCm39) |
N157K |
possibly damaging |
Het |
Oscp1 |
T |
C |
4: 125,970,619 (GRCm39) |
V136A |
probably benign |
Het |
Oser1 |
G |
A |
2: 163,249,004 (GRCm39) |
T66I |
probably benign |
Het |
Palld |
A |
G |
8: 62,138,006 (GRCm39) |
L583P |
possibly damaging |
Het |
Pex7 |
A |
G |
10: 19,760,522 (GRCm39) |
|
probably null |
Het |
Ppp2r3d |
A |
G |
9: 101,004,204 (GRCm39) |
Y378H |
probably benign |
Het |
Prss33 |
T |
A |
17: 24,052,885 (GRCm39) |
N263I |
possibly damaging |
Het |
Psg25 |
A |
C |
7: 18,255,153 (GRCm39) |
C454W |
probably damaging |
Het |
Ptpn21 |
T |
C |
12: 98,649,001 (GRCm39) |
|
probably null |
Het |
Sh3bp2 |
A |
T |
5: 34,719,751 (GRCm39) |
S587C |
probably damaging |
Het |
Sos2 |
A |
G |
12: 69,664,006 (GRCm39) |
F493L |
probably benign |
Het |
St8sia4 |
T |
A |
1: 95,519,472 (GRCm39) |
T339S |
possibly damaging |
Het |
Taok1 |
T |
C |
11: 77,470,632 (GRCm39) |
K58E |
probably benign |
Het |
Thsd1 |
A |
G |
8: 22,749,643 (GRCm39) |
D838G |
possibly damaging |
Het |
Tulp2 |
A |
G |
7: 45,164,914 (GRCm39) |
T65A |
probably benign |
Het |
Usp54 |
A |
T |
14: 20,638,466 (GRCm39) |
S205T |
probably benign |
Het |
Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
Vmn2r37 |
A |
T |
7: 9,218,991 (GRCm39) |
Y464* |
probably null |
Het |
Wdsub1 |
A |
G |
2: 59,693,014 (GRCm39) |
M300T |
probably damaging |
Het |
Xrcc5 |
C |
T |
1: 72,433,089 (GRCm39) |
T716I |
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 |
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-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'- ATTCAAAACCTGTGGGTGCTC -3'
(R):5'- GAGCTTTACCGCATTCTCTACAC -3'
Sequencing Primer
(F):5'- CTCATTTTGCAGCAGCGAAG -3'
(R):5'- CGTCTAAAGGGCTTAGCACACTG -3'
|
Posted On |
2021-03-08 |