Incidental Mutation 'R2047:Zfp619'
ID |
222103 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp619
|
Ensembl Gene |
ENSMUSG00000068959 |
Gene Name |
zinc finger protein 619 |
Synonyms |
3000002G13Rik |
MMRRC Submission |
040054-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R2047 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
39167190-39189844 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39187062 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 1031
(C1031R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103650
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108015]
|
AlphaFold |
G3X9T2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108015
AA Change: C1031R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103650 Gene: ENSMUSG00000068959 AA Change: C1031R
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
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
100% (57/57) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
A |
G |
7: 130,747,836 (GRCm39) |
F52S |
probably damaging |
Het |
Acot12 |
T |
C |
13: 91,931,122 (GRCm39) |
S457P |
probably damaging |
Het |
Adcy5 |
G |
A |
16: 35,110,478 (GRCm39) |
V882M |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,991,664 (GRCm39) |
D4316G |
possibly damaging |
Het |
Aldh1l2 |
G |
A |
10: 83,342,607 (GRCm39) |
A401V |
probably damaging |
Het |
Apol7e |
A |
G |
15: 77,601,810 (GRCm39) |
H136R |
probably benign |
Het |
Arl5a |
A |
G |
2: 52,302,072 (GRCm39) |
|
probably null |
Het |
Asns |
G |
T |
6: 7,680,093 (GRCm39) |
A341E |
probably damaging |
Het |
C7 |
A |
G |
15: 5,075,143 (GRCm39) |
L183P |
probably damaging |
Het |
Cacng2 |
C |
T |
15: 78,003,037 (GRCm39) |
A19T |
probably damaging |
Het |
Ccdc121rt2 |
A |
G |
5: 112,598,575 (GRCm39) |
N374S |
probably benign |
Het |
Ccr4 |
A |
G |
9: 114,321,633 (GRCm39) |
F144S |
probably damaging |
Het |
Ckap2 |
A |
G |
8: 22,658,763 (GRCm39) |
V660A |
probably benign |
Het |
Cramp1 |
A |
T |
17: 25,222,189 (GRCm39) |
Y176* |
probably null |
Het |
Dgki |
A |
G |
6: 36,890,581 (GRCm39) |
S922P |
possibly damaging |
Het |
Drd5 |
C |
T |
5: 38,477,679 (GRCm39) |
S224L |
probably damaging |
Het |
Ei24 |
T |
C |
9: 36,691,459 (GRCm39) |
K341E |
probably benign |
Het |
Eno2 |
A |
T |
6: 124,744,659 (GRCm39) |
|
probably benign |
Het |
Epb41l4a |
T |
C |
18: 33,961,259 (GRCm39) |
N425S |
probably benign |
Het |
F13b |
T |
G |
1: 139,435,961 (GRCm39) |
C256G |
probably damaging |
Het |
Gp6 |
A |
T |
7: 4,376,270 (GRCm39) |
|
probably benign |
Het |
H2-Q7 |
A |
T |
17: 35,659,123 (GRCm39) |
R191S |
probably damaging |
Het |
Ivns1abp |
T |
A |
1: 151,227,382 (GRCm39) |
S63R |
possibly damaging |
Het |
Kcnj16 |
A |
G |
11: 110,915,946 (GRCm39) |
|
probably null |
Het |
Lpcat4 |
T |
C |
2: 112,075,142 (GRCm39) |
|
probably null |
Het |
Lrrc14b |
T |
C |
13: 74,511,561 (GRCm39) |
K173R |
probably benign |
Het |
Maml3 |
C |
A |
3: 51,597,866 (GRCm39) |
R939S |
probably damaging |
Het |
Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
Mrpl46 |
T |
A |
7: 78,431,312 (GRCm39) |
Y82F |
probably damaging |
Het |
Mthfs |
T |
A |
9: 89,097,356 (GRCm39) |
I71N |
probably damaging |
Het |
Nectin4 |
T |
C |
1: 171,212,720 (GRCm39) |
V351A |
possibly damaging |
Het |
Npas3 |
T |
C |
12: 54,115,612 (GRCm39) |
F827L |
probably damaging |
Het |
Nrp1 |
G |
A |
8: 129,224,577 (GRCm39) |
|
probably benign |
Het |
Ocln |
C |
A |
13: 100,671,632 (GRCm39) |
A242S |
probably damaging |
Het |
Or10ad1c |
T |
A |
15: 98,084,920 (GRCm39) |
T253S |
probably damaging |
Het |
Or13g1 |
G |
A |
7: 85,956,012 (GRCm39) |
T103I |
probably damaging |
Het |
Or5d37 |
A |
T |
2: 87,924,237 (GRCm39) |
N14K |
probably benign |
Het |
Pappa |
T |
C |
4: 65,149,378 (GRCm39) |
|
probably benign |
Het |
Ptpn6 |
T |
C |
6: 124,698,752 (GRCm39) |
T480A |
probably benign |
Het |
Pycr1 |
A |
T |
11: 120,532,512 (GRCm39) |
D168E |
possibly damaging |
Het |
Rnf6 |
T |
C |
5: 146,148,674 (GRCm39) |
T126A |
probably damaging |
Het |
Slc25a39 |
G |
A |
11: 102,296,657 (GRCm39) |
|
probably benign |
Het |
Slc35f4 |
G |
T |
14: 49,541,029 (GRCm39) |
|
probably benign |
Het |
Sppl2a |
C |
T |
2: 126,768,772 (GRCm39) |
A112T |
probably damaging |
Het |
Sptbn1 |
A |
C |
11: 30,088,360 (GRCm39) |
|
probably benign |
Het |
Sqle |
T |
C |
15: 59,197,907 (GRCm39) |
Y376H |
probably benign |
Het |
Terb1 |
A |
T |
8: 105,212,094 (GRCm39) |
Y296N |
probably damaging |
Het |
Ttbk2 |
T |
C |
2: 120,579,397 (GRCm39) |
H506R |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,737,879 (GRCm39) |
D4220G |
probably benign |
Het |
Tub |
A |
G |
7: 108,625,939 (GRCm39) |
D230G |
probably benign |
Het |
Ube2d3 |
T |
A |
3: 135,170,967 (GRCm39) |
I137K |
probably benign |
Het |
Vldlr |
G |
T |
19: 27,212,238 (GRCm39) |
C84F |
probably damaging |
Het |
Vmn1r54 |
A |
T |
6: 90,246,970 (GRCm39) |
I295F |
probably damaging |
Het |
Vmn2r56 |
A |
G |
7: 12,466,918 (GRCm39) |
S39P |
probably damaging |
Het |
Zfp358 |
A |
G |
8: 3,545,934 (GRCm39) |
H172R |
probably damaging |
Het |
Zfp777 |
A |
G |
6: 48,021,280 (GRCm39) |
I114T |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCGGGTTACCTTCGAATTCA -3'
(R):5'- CAACAACAAACTTCAGCATTTGT -3'
Sequencing Primer
(F):5'- CCCTACGAATGTAAGCAATGTG -3'
(R):5'- GACAAGTAAAGGCTTTCCTGCAGTC -3'
|
Posted On |
2014-08-25 |