Incidental Mutation 'R6713:Zfp619'
ID |
529209 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp619
|
Ensembl Gene |
ENSMUSG00000068959 |
Gene Name |
zinc finger protein 619 |
Synonyms |
3000002G13Rik |
MMRRC Submission |
044831-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R6713 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
39167190-39189844 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 39187322 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 1117
(K1117N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103650
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108015]
|
AlphaFold |
G3X9T2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108015
AA Change: K1117N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103650 Gene: ENSMUSG00000068959 AA Change: K1117N
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.9%
|
Validation Efficiency |
100% (39/39) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol10a |
C |
T |
15: 77,373,051 (GRCm39) |
T229M |
possibly damaging |
Het |
Cdh16 |
G |
A |
8: 105,346,617 (GRCm39) |
Q226* |
probably null |
Het |
Cemip |
A |
T |
7: 83,592,845 (GRCm39) |
N1227K |
probably benign |
Het |
Dusp13b |
A |
G |
14: 21,798,541 (GRCm39) |
V41A |
probably damaging |
Het |
F3 |
C |
T |
3: 121,525,323 (GRCm39) |
T53I |
possibly damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fyb2 |
T |
A |
4: 104,847,432 (GRCm39) |
M484K |
probably benign |
Het |
Glb1l |
A |
T |
1: 75,179,061 (GRCm39) |
H253Q |
probably benign |
Het |
Grm8 |
T |
C |
6: 27,363,190 (GRCm39) |
E775G |
probably damaging |
Het |
Hipk3 |
C |
T |
2: 104,276,916 (GRCm39) |
V388M |
probably damaging |
Het |
Ighe |
T |
C |
12: 113,232,908 (GRCm39) |
|
probably benign |
Het |
Kif14 |
A |
G |
1: 136,453,544 (GRCm39) |
T1491A |
probably benign |
Het |
Klre1 |
A |
G |
6: 129,559,229 (GRCm39) |
|
probably null |
Het |
Kpna6 |
A |
T |
4: 129,547,777 (GRCm39) |
L257M |
probably damaging |
Het |
Ldhc |
G |
A |
7: 46,515,955 (GRCm39) |
|
probably null |
Het |
Lekr1 |
C |
A |
3: 65,591,380 (GRCm39) |
A39D |
probably benign |
Het |
Lins1 |
A |
G |
7: 66,358,230 (GRCm39) |
T122A |
probably benign |
Het |
Lrrc40 |
G |
A |
3: 157,769,350 (GRCm39) |
R516Q |
probably benign |
Het |
Meis3 |
G |
T |
7: 15,916,255 (GRCm39) |
G72* |
probably null |
Het |
Mpo |
A |
G |
11: 87,686,194 (GRCm39) |
T115A |
probably damaging |
Het |
Mrgprb5 |
A |
G |
7: 47,818,537 (GRCm39) |
V66A |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nags |
C |
A |
11: 102,037,347 (GRCm39) |
A146E |
probably benign |
Het |
Nkain4 |
C |
T |
2: 180,585,970 (GRCm39) |
G31D |
probably damaging |
Het |
Or2y1 |
T |
G |
11: 49,385,784 (GRCm39) |
C141W |
probably damaging |
Het |
Or4k1 |
T |
A |
14: 50,377,181 (GRCm39) |
H305L |
probably benign |
Het |
Or5ak24 |
A |
C |
2: 85,260,883 (GRCm39) |
C97G |
probably damaging |
Het |
Or8a1 |
A |
G |
9: 37,641,560 (GRCm39) |
C240R |
probably damaging |
Het |
Otud6b |
C |
T |
4: 14,822,739 (GRCm39) |
V122I |
probably benign |
Het |
Ovca2 |
C |
T |
11: 75,069,569 (GRCm39) |
S18N |
possibly damaging |
Het |
Pax2 |
A |
G |
19: 44,823,916 (GRCm39) |
S370G |
unknown |
Het |
Pias2 |
G |
A |
18: 77,153,416 (GRCm39) |
|
probably null |
Het |
Slc2a10 |
T |
C |
2: 165,357,128 (GRCm39) |
F263L |
probably damaging |
Het |
Slc6a17 |
T |
G |
3: 107,378,703 (GRCm39) |
M660L |
probably benign |
Het |
Smarcc2 |
A |
G |
10: 128,323,638 (GRCm39) |
|
probably null |
Het |
Srcap |
A |
G |
7: 127,134,089 (GRCm39) |
T937A |
probably benign |
Het |
Ssh2 |
C |
A |
11: 77,340,259 (GRCm39) |
D470E |
possibly damaging |
Het |
St8sia1 |
A |
T |
6: 142,775,008 (GRCm39) |
|
probably null |
Het |
Supt20 |
T |
A |
3: 54,606,022 (GRCm39) |
I36K |
possibly damaging |
Het |
Tor1aip2 |
T |
A |
1: 155,941,155 (GRCm39) |
L487Q |
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 |
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 |
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'- CGGGTTACCTTCGAATTCATGAA -3'
(R):5'- CCCAAATGAATCCTTCTAAACTTTCCA -3'
Sequencing Primer
(F):5'- TAAGGCCTTCAGAAGTCAGAGTTCC -3'
(R):5'- CCCAGTACTTTCACACATTTGAAGAG -3'
|
Posted On |
2018-07-24 |