Incidental Mutation 'R6354:Zfp619'
| ID |
512963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp619
|
| Ensembl Gene |
ENSMUSG00000068959 |
| Gene Name |
zinc finger protein 619 |
| Synonyms |
3000002G13Rik |
| MMRRC Submission |
044506-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R6354 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
39167190-39189844 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 39184243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 91
(T91K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108015]
|
| AlphaFold |
G3X9T2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108015
AA Change: T91K
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103650
Gene: ENSMUSG00000068959
AA Change: T91K
| 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: 99.8%
- 10x: 98.5%
- 20x: 95.3%
|
| Validation Efficiency |
100% (56/56) |
| 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 |
|---|
| 1700012B07Rik |
T |
C |
11: 109,685,042 (GRCm39) |
K152E |
probably benign |
Het |
| Adamts20 |
C |
A |
15: 94,245,691 (GRCm39) |
C537F |
probably damaging |
Het |
| Apc |
A |
T |
18: 34,445,581 (GRCm39) |
T808S |
probably benign |
Het |
| Atad3a |
A |
G |
4: 155,838,402 (GRCm39) |
I205T |
possibly damaging |
Het |
| Casz1 |
G |
T |
4: 149,036,999 (GRCm39) |
G1754C |
unknown |
Het |
| Ccdc62 |
C |
T |
5: 124,082,267 (GRCm39) |
A232V |
probably damaging |
Het |
| Cdc27 |
C |
A |
11: 104,425,574 (GRCm39) |
D81Y |
probably damaging |
Het |
| Cep126 |
A |
G |
9: 8,099,928 (GRCm39) |
S869P |
probably damaging |
Het |
| Cfap251 |
C |
T |
5: 123,440,818 (GRCm39) |
T1125I |
probably damaging |
Het |
| Ciita |
A |
T |
16: 10,341,610 (GRCm39) |
K983N |
probably damaging |
Het |
| Cimap1a |
A |
G |
7: 140,430,527 (GRCm39) |
|
probably null |
Het |
| Clstn1 |
A |
C |
4: 149,727,673 (GRCm39) |
Q523P |
probably benign |
Het |
| Cpb2 |
T |
C |
14: 75,495,145 (GRCm39) |
|
probably null |
Het |
| Crybg2 |
A |
G |
4: 133,818,447 (GRCm39) |
D1710G |
probably benign |
Het |
| Csmd3 |
C |
T |
15: 47,744,885 (GRCm39) |
G1370D |
probably damaging |
Het |
| Cwf19l1 |
G |
T |
19: 44,115,912 (GRCm39) |
D172E |
probably benign |
Het |
| Cyp4a14 |
A |
G |
4: 115,344,441 (GRCm39) |
F475L |
probably damaging |
Het |
| Fam98c |
C |
T |
7: 28,852,272 (GRCm39) |
V298M |
probably damaging |
Het |
| Gcsh |
T |
C |
8: 117,710,582 (GRCm39) |
N127S |
probably benign |
Het |
| Gimap4 |
T |
C |
6: 48,663,814 (GRCm39) |
F10S |
possibly damaging |
Het |
| Gm4787 |
C |
T |
12: 81,424,755 (GRCm39) |
A468T |
probably damaging |
Het |
| Gm5111 |
G |
A |
6: 48,567,268 (GRCm39) |
|
probably benign |
Het |
| Gm7137 |
C |
A |
10: 77,623,481 (GRCm39) |
|
probably benign |
Het |
| Inpp1 |
A |
G |
1: 52,836,224 (GRCm39) |
S81P |
probably damaging |
Het |
| Iqce |
T |
C |
5: 140,662,090 (GRCm39) |
|
probably null |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Krtap13 |
C |
A |
16: 88,548,131 (GRCm39) |
C119F |
probably damaging |
Het |
| Lama2 |
G |
T |
10: 27,088,064 (GRCm39) |
D904E |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,355,213 (GRCm39) |
I2535F |
unknown |
Het |
| Lrrc40 |
T |
A |
3: 157,766,901 (GRCm39) |
L452* |
probably null |
Het |
| Meis1 |
A |
T |
11: 18,966,184 (GRCm39) |
M63K |
possibly damaging |
Het |
| Mpo |
T |
A |
11: 87,688,172 (GRCm39) |
I277N |
possibly damaging |
Het |
| Mtmr11 |
T |
A |
3: 96,075,992 (GRCm39) |
F406I |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,575,476 (GRCm39) |
S1411P |
probably benign |
Het |
| Or2y1b |
A |
T |
11: 49,208,465 (GRCm39) |
I31F |
probably damaging |
Het |
| Or4c102 |
T |
A |
2: 88,422,478 (GRCm39) |
I110N |
probably damaging |
Het |
| Or56a5 |
G |
A |
7: 104,792,915 (GRCm39) |
T195I |
probably benign |
Het |
| Phf21a |
G |
A |
2: 92,179,282 (GRCm39) |
G298R |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,645,477 (GRCm39) |
Y368C |
probably damaging |
Het |
| Pik3cb |
G |
T |
9: 98,955,696 (GRCm39) |
T407K |
probably benign |
Het |
| Robo3 |
A |
T |
9: 37,328,513 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
T |
G |
5: 113,430,522 (GRCm39) |
T288P |
probably damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,584,061 (GRCm39) |
S410P |
probably damaging |
Het |
| Tmc6 |
A |
C |
11: 117,665,062 (GRCm39) |
C404G |
probably benign |
Het |
| Tnrc6c |
A |
T |
11: 117,640,440 (GRCm39) |
Q1410L |
possibly damaging |
Het |
| Trak1 |
A |
T |
9: 121,280,792 (GRCm39) |
T384S |
probably null |
Het |
| Txlna |
A |
T |
4: 129,528,205 (GRCm39) |
L244Q |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,868,581 (GRCm39) |
F939L |
probably damaging |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,574 (GRCm39) |
I781F |
probably benign |
Het |
| Vmn2r72 |
A |
G |
7: 85,399,747 (GRCm39) |
|
probably null |
Het |
| Vps36 |
T |
C |
8: 22,695,771 (GRCm39) |
S109P |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,833,666 (GRCm39) |
I82M |
possibly damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,360,903 (GRCm39) |
R511G |
possibly damaging |
Het |
| Zeb1 |
A |
G |
18: 5,772,743 (GRCm39) |
T1011A |
possibly damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,467,011 (GRCm39) |
S2390P |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,784,619 (GRCm39) |
S643P |
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 |
|
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 |
|
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'- GTGGGAGACTAAGACCTACCA -3'
(R):5'- TATGAGTTCCACTGCAAAACGG -3'
Sequencing Primer
(F):5'- CGTGTTTACAGCCGTCAAATGCTAG -3'
(R):5'- TTCGCTGCTGCAAAATGAGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation