Incidental Mutation 'IGL02157:Zfp619'
| ID |
282283 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp619
|
| Ensembl Gene |
ENSMUSG00000068959 |
| Gene Name |
zinc finger protein 619 |
| Synonyms |
3000002G13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL02157
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
39167190-39189844 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39184288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 106
(Y106C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108015]
|
| AlphaFold |
G3X9T2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108015
AA Change: Y106C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103650
Gene: ENSMUSG00000068959
AA Change: Y106C
| 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 |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,855,487 (GRCm39) |
|
probably benign |
Het |
| Amotl1 |
A |
T |
9: 14,483,011 (GRCm39) |
|
probably benign |
Het |
| Amph |
A |
T |
13: 19,288,401 (GRCm39) |
T297S |
possibly damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,444,263 (GRCm39) |
V198A |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,339,772 (GRCm39) |
D216G |
possibly damaging |
Het |
| Cdh13 |
T |
C |
8: 119,232,410 (GRCm39) |
I38T |
possibly damaging |
Het |
| Clmn |
T |
C |
12: 104,748,177 (GRCm39) |
T457A |
probably benign |
Het |
| Clstn2 |
A |
C |
9: 97,423,928 (GRCm39) |
M279R |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Fam83h |
A |
T |
15: 75,876,904 (GRCm39) |
V208E |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,445,894 (GRCm39) |
N785S |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,378,589 (GRCm39) |
L225P |
probably damaging |
Het |
| Gbp11 |
C |
T |
5: 105,475,374 (GRCm39) |
V325M |
possibly damaging |
Het |
| Glis1 |
A |
G |
4: 107,484,758 (GRCm39) |
T418A |
probably benign |
Het |
| Hook2 |
C |
T |
8: 85,727,779 (GRCm39) |
|
probably benign |
Het |
| Hoxa6 |
C |
A |
6: 52,185,171 (GRCm39) |
C145F |
possibly damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Mbd5 |
T |
C |
2: 49,168,987 (GRCm39) |
V1156A |
probably benign |
Het |
| Mon2 |
G |
A |
10: 122,849,377 (GRCm39) |
P1308S |
probably damaging |
Het |
| Mta2 |
T |
A |
19: 8,924,613 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,219,385 (GRCm39) |
L867* |
probably null |
Het |
| Oca2 |
G |
A |
7: 55,974,545 (GRCm39) |
|
probably null |
Het |
| Or13a22 |
T |
A |
7: 140,072,847 (GRCm39) |
C99S |
probably damaging |
Het |
| Or6c88 |
A |
G |
10: 129,407,019 (GRCm39) |
E165G |
probably damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,585 (GRCm39) |
V154E |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,874,370 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,380,947 (GRCm39) |
C359S |
probably damaging |
Het |
| Rhbdd3 |
T |
C |
11: 5,055,424 (GRCm39) |
|
probably benign |
Het |
| Timeless |
T |
A |
10: 128,078,255 (GRCm39) |
V255E |
probably benign |
Het |
| Tmt1b |
T |
G |
10: 128,796,486 (GRCm39) |
T108P |
possibly damaging |
Het |
| Trh |
A |
T |
6: 92,219,948 (GRCm39) |
S123T |
probably benign |
Het |
| Ugdh |
C |
T |
5: 65,580,035 (GRCm39) |
A252T |
probably damaging |
Het |
| Zic5 |
G |
A |
14: 122,696,924 (GRCm39) |
P564S |
unknown |
Het |
|
| Other mutations in Zfp619 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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: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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation