Incidental Mutation 'R4059:Zfp619'
ID |
314380 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp619
|
Ensembl Gene |
ENSMUSG00000068959 |
Gene Name |
zinc finger protein 619 |
Synonyms |
3000002G13Rik |
MMRRC Submission |
040970-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R4059 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
39167190-39189844 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 39184823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 284
(R284S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103650
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108015]
|
AlphaFold |
G3X9T2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000108015
AA Change: R284S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000103650 Gene: ENSMUSG00000068959 AA Change: R284S
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
98% (54/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930453N24Rik |
A |
G |
16: 64,586,821 (GRCm39) |
V301A |
probably benign |
Het |
Agbl3 |
T |
C |
6: 34,823,834 (GRCm39) |
L833P |
probably damaging |
Het |
Amph |
T |
C |
13: 19,326,168 (GRCm39) |
S633P |
probably damaging |
Het |
Aspscr1 |
T |
C |
11: 120,577,505 (GRCm39) |
V60A |
probably benign |
Het |
Atp13a3 |
C |
A |
16: 30,173,064 (GRCm39) |
C271F |
possibly damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
BC051019 |
C |
T |
7: 109,317,202 (GRCm39) |
W163* |
probably null |
Het |
Capza1 |
T |
C |
3: 104,732,427 (GRCm39) |
E245G |
probably damaging |
Het |
Cd81 |
G |
T |
7: 142,619,030 (GRCm39) |
C18F |
probably damaging |
Het |
Cfap45 |
G |
T |
1: 172,366,056 (GRCm39) |
R303L |
probably benign |
Het |
Commd9 |
T |
C |
2: 101,725,499 (GRCm39) |
V24A |
possibly damaging |
Het |
Dennd4a |
A |
G |
9: 64,819,174 (GRCm39) |
N1742D |
possibly damaging |
Het |
Dgat1 |
G |
T |
15: 76,388,371 (GRCm39) |
A182D |
possibly damaging |
Het |
Dlg4 |
T |
C |
11: 69,917,909 (GRCm39) |
L64P |
probably benign |
Het |
Dna2 |
A |
G |
10: 62,792,768 (GRCm39) |
D261G |
probably damaging |
Het |
Epb41l4b |
C |
T |
4: 57,024,337 (GRCm39) |
|
probably null |
Het |
Fam13c |
T |
C |
10: 70,390,338 (GRCm39) |
L533P |
probably damaging |
Het |
Fjx1 |
T |
C |
2: 102,281,066 (GRCm39) |
T290A |
possibly damaging |
Het |
Hid1 |
C |
T |
11: 115,247,565 (GRCm39) |
E278K |
probably damaging |
Het |
Hsd3b7 |
T |
C |
7: 127,400,717 (GRCm39) |
I57T |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
Itgae |
A |
G |
11: 73,002,960 (GRCm39) |
K175E |
probably benign |
Het |
Klhl32 |
T |
C |
4: 24,792,781 (GRCm39) |
T14A |
probably damaging |
Het |
Krt23 |
T |
C |
11: 99,376,614 (GRCm39) |
T181A |
probably benign |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lrrc36 |
A |
G |
8: 106,154,428 (GRCm39) |
E33G |
probably damaging |
Het |
Mettl13 |
G |
T |
1: 162,373,755 (GRCm39) |
H165Q |
probably damaging |
Het |
Mocos |
G |
A |
18: 24,812,447 (GRCm39) |
G447D |
probably damaging |
Het |
Ngef |
T |
A |
1: 87,413,953 (GRCm39) |
K399N |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,688,786 (GRCm39) |
L589P |
probably damaging |
Het |
Or4c104 |
C |
T |
2: 88,586,795 (GRCm39) |
V75I |
probably benign |
Het |
Pcdha2 |
A |
G |
18: 37,072,935 (GRCm39) |
S189G |
probably benign |
Het |
Peg10 |
T |
G |
6: 4,756,427 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,414,156 (GRCm39) |
H2808Y |
probably benign |
Het |
Plekhg1 |
A |
G |
10: 3,907,087 (GRCm39) |
D668G |
probably damaging |
Het |
Ptcd2 |
A |
G |
13: 99,481,084 (GRCm39) |
C32R |
probably damaging |
Het |
Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
Rhoh |
G |
A |
5: 66,049,931 (GRCm39) |
S67N |
probably benign |
Het |
Rnd3 |
A |
G |
2: 51,038,760 (GRCm39) |
F43L |
probably damaging |
Het |
Runx1 |
A |
G |
16: 92,441,134 (GRCm39) |
V225A |
probably benign |
Het |
Runx1t1 |
T |
C |
4: 13,889,769 (GRCm39) |
V566A |
probably benign |
Het |
Sall2 |
A |
G |
14: 52,552,028 (GRCm39) |
I387T |
probably damaging |
Het |
Sec14l1 |
T |
A |
11: 117,040,024 (GRCm39) |
V384D |
possibly damaging |
Het |
Sh3rf3 |
T |
C |
10: 58,919,355 (GRCm39) |
C491R |
probably damaging |
Het |
Slc22a27 |
T |
A |
19: 7,856,973 (GRCm39) |
|
probably benign |
Het |
Spire1 |
A |
G |
18: 67,678,783 (GRCm39) |
S53P |
probably damaging |
Het |
Tmco3 |
A |
G |
8: 13,370,848 (GRCm39) |
R671G |
probably benign |
Het |
Tmpo |
A |
G |
10: 90,998,123 (GRCm39) |
S555P |
probably benign |
Het |
Tnip1 |
A |
G |
11: 54,802,395 (GRCm39) |
S638P |
probably benign |
Het |
Tspan8 |
C |
T |
10: 115,671,187 (GRCm39) |
R115* |
probably null |
Het |
Txnrd1 |
A |
G |
10: 82,721,114 (GRCm39) |
E510G |
probably benign |
Het |
Ucp3 |
T |
C |
7: 100,131,871 (GRCm39) |
Y241H |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,818,339 (GRCm39) |
I831V |
probably benign |
Het |
Zan |
T |
C |
5: 137,435,082 (GRCm39) |
I2104V |
unknown |
Het |
Zfp715 |
T |
C |
7: 42,951,155 (GRCm39) |
M48V |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTTCTGAATGTAAACCAGGTG -3'
(R):5'- CATTTGTAGGGCTTCTCTCCAGT -3'
Sequencing Primer
(F):5'- AGATGTCACAGTTCCCTTCAGAG -3'
(R):5'- GGCTTCTCTCCAGTATGGGATC -3'
|
Posted On |
2015-04-30 |