Incidental Mutation 'R8001:Zfp619'
| ID |
616360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp619
|
| Ensembl Gene |
ENSMUSG00000068959 |
| Gene Name |
zinc finger protein 619 |
| Synonyms |
3000002G13Rik |
| MMRRC Submission |
046041-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R8001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
39167190-39189844 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39184645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 225
(K225R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108015]
|
| AlphaFold |
G3X9T2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108015
AA Change: K225R
PolyPhen 2
Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103650
Gene: ENSMUSG00000068959
AA Change: K225R
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
A |
G |
15: 89,458,165 (GRCm39) |
Y282C |
probably damaging |
Het |
| Alkbh4 |
A |
G |
5: 136,169,123 (GRCm39) |
R136G |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,938,166 (GRCm39) |
E2* |
probably null |
Het |
| Cse1l |
T |
A |
2: 166,781,833 (GRCm39) |
F659Y |
probably damaging |
Het |
| Ctrc |
A |
T |
4: 141,567,671 (GRCm39) |
L144Q |
probably damaging |
Het |
| Elmo1 |
A |
G |
13: 20,470,902 (GRCm39) |
I265V |
probably benign |
Het |
| Erich3 |
T |
C |
3: 154,419,553 (GRCm39) |
S19P |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,540,629 (GRCm39) |
C2893* |
probably null |
Het |
| Hnrnpll |
G |
A |
17: 80,346,152 (GRCm39) |
Q370* |
probably null |
Het |
| Itpkb |
T |
C |
1: 180,160,059 (GRCm39) |
S62P |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,682,902 (GRCm39) |
C501S |
probably benign |
Het |
| Mab21l4 |
A |
G |
1: 93,082,321 (GRCm39) |
L266P |
probably damaging |
Het |
| Nrxn1 |
C |
T |
17: 91,395,964 (GRCm39) |
R64H |
possibly damaging |
Het |
| Ogfod2 |
T |
G |
5: 124,252,946 (GRCm39) |
C319G |
probably damaging |
Het |
| Or51h1 |
A |
T |
7: 102,308,241 (GRCm39) |
D71V |
probably damaging |
Het |
| Or5ac19 |
T |
C |
16: 59,089,472 (GRCm39) |
N186S |
probably benign |
Het |
| Or5b118 |
A |
G |
19: 13,448,786 (GRCm39) |
I109V |
probably benign |
Het |
| Or9k7 |
A |
G |
10: 130,046,729 (GRCm39) |
V90A |
probably benign |
Het |
| Pabpc6 |
C |
A |
17: 9,888,302 (GRCm39) |
R83L |
probably damaging |
Het |
| Pcdhgb2 |
A |
T |
18: 37,823,687 (GRCm39) |
Q226L |
probably benign |
Het |
| Pole |
A |
T |
5: 110,460,600 (GRCm39) |
I1127F |
probably damaging |
Het |
| Psg22 |
A |
T |
7: 18,453,671 (GRCm39) |
Q161L |
possibly damaging |
Het |
| Slc17a7 |
A |
T |
7: 44,818,212 (GRCm39) |
T46S |
probably benign |
Het |
| Smad4 |
A |
G |
18: 73,774,881 (GRCm39) |
S473P |
probably damaging |
Het |
| Snap47 |
T |
A |
11: 59,329,180 (GRCm39) |
T41S |
probably benign |
Het |
| Snx21 |
T |
C |
2: 164,628,657 (GRCm39) |
L100P |
probably benign |
Het |
| Stc1 |
T |
A |
14: 69,275,844 (GRCm39) |
N212K |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,448,209 (GRCm39) |
N396I |
possibly damaging |
Het |
| Stox2 |
G |
A |
8: 47,639,512 (GRCm39) |
P894L |
probably benign |
Het |
| Trav16d-dv11 |
A |
G |
14: 53,284,744 (GRCm39) |
M1V |
probably null |
Het |
| Trim33 |
T |
C |
3: 103,218,831 (GRCm39) |
|
probably null |
Het |
| Tyrp1 |
T |
C |
4: 80,758,907 (GRCm39) |
V260A |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,643,261 (GRCm39) |
Y4208H |
probably damaging |
Het |
| Vmn1r25 |
T |
A |
6: 57,956,065 (GRCm39) |
K75* |
probably null |
Het |
| Vmn2r117 |
T |
A |
17: 23,698,381 (GRCm39) |
N64I |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,695,492 (GRCm39) |
|
probably null |
Het |
| Wnt8a |
A |
T |
18: 34,678,569 (GRCm39) |
I128F |
probably damaging |
Het |
| Zc3h7b |
C |
A |
15: 81,663,461 (GRCm39) |
Y484* |
probably null |
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 |
|
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'- TGTGGCACTGGTGAGCAAATT -3'
(R):5'- ATGTCTTTGAAGGGAACTGTGG -3'
Sequencing Primer
(F):5'- CTCATTTTGCAGCAGCGAAG -3'
(R):5'- CCTGAAGATTACTGAGGCGTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation