Incidental Mutation 'R4920:Zfp189'
| ID |
378505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp189
|
| Ensembl Gene |
ENSMUSG00000039634 |
| Gene Name |
zinc finger protein 189 |
| Synonyms |
C430015I23Rik |
| MMRRC Submission |
042522-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4920 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
49521176-49531517 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 49529302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 135
(C135Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042964]
[ENSMUST00000107696]
|
| AlphaFold |
Q8BKP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042964
AA Change: C135Y
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000036663
Gene: ENSMUSG00000039634
AA Change: C135Y
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
11 |
61 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
130 |
152 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
158 |
180 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
186 |
208 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
214 |
236 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
242 |
264 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
270 |
292 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
298 |
320 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
326 |
348 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
354 |
376 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
382 |
404 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
494 |
516 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
522 |
544 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
550 |
572 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
581 |
603 |
2.05e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107696
AA Change: C135Y
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103324
Gene: ENSMUSG00000039634
AA Change: C135Y
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
11 |
61 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
130 |
152 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
158 |
180 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
186 |
208 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
214 |
236 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
242 |
264 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
270 |
292 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
298 |
320 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
326 |
348 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
354 |
376 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
382 |
404 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
494 |
516 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
522 |
544 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
550 |
572 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
581 |
603 |
2.05e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.7832 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 87.9%
|
| Validation Efficiency |
96% (55/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kruppel-like zinc finger proteins such as ZNF189 contain a conserved stretch of 7 amino acids that connects a variable number of DNA-binding zinc finger repeats of the cys(2)his(2) (C2H2) type (summarized by Odeberg et al., 1998 [PubMed 9653648]). Approximately 30% of human Kruppel-like zinc finger proteins contain an N-terminal Kruppel-associated box (KRAB) domain. The KRAB domain consists of approximately 75 amino acids that may be subdivided into an A box, which is present in every KRAB domain and is essential for transcriptional repression, and a B box, which is not always present.[supplied by OMIM, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700092K14Rik |
A |
T |
11: 114,089,871 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy4 |
C |
T |
14: 56,016,486 (GRCm39) |
D322N |
probably damaging |
Het |
| Apbb1ip |
A |
G |
2: 22,709,696 (GRCm39) |
D51G |
unknown |
Het |
| Bmal1 |
A |
G |
7: 112,884,321 (GRCm39) |
T120A |
probably damaging |
Het |
| Brca1 |
A |
T |
11: 101,415,785 (GRCm39) |
V783D |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,998,907 (GRCm39) |
D58G |
probably damaging |
Het |
| Ccr9 |
G |
T |
9: 123,608,504 (GRCm39) |
G62V |
probably damaging |
Het |
| Ces2b |
T |
C |
8: 105,563,538 (GRCm39) |
Y422H |
probably benign |
Het |
| Cpa4 |
T |
C |
6: 30,568,462 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
A |
G |
15: 73,412,574 (GRCm39) |
H412R |
probably benign |
Het |
| Dpy19l3 |
A |
T |
7: 35,407,467 (GRCm39) |
|
probably benign |
Het |
| Dtwd2 |
G |
T |
18: 49,831,507 (GRCm39) |
R167S |
possibly damaging |
Het |
| Dync1i2 |
G |
A |
2: 71,077,668 (GRCm39) |
R243Q |
probably damaging |
Het |
| Ear2 |
G |
A |
14: 44,340,582 (GRCm39) |
G80E |
probably damaging |
Het |
| Fam171b |
A |
G |
2: 83,710,703 (GRCm39) |
K792E |
possibly damaging |
Het |
| Fam83b |
G |
A |
9: 76,399,150 (GRCm39) |
T651I |
probably benign |
Het |
| Fcrl5 |
T |
G |
3: 87,351,480 (GRCm39) |
F243V |
probably damaging |
Het |
| Galntl6 |
T |
C |
8: 58,880,807 (GRCm39) |
I115M |
probably damaging |
Het |
| Glrx3 |
A |
G |
7: 137,065,859 (GRCm39) |
D163G |
probably null |
Het |
| Gm14488 |
A |
T |
2: 30,605,044 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
T |
C |
1: 59,666,725 (GRCm39) |
S683P |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| Gsdmd |
T |
C |
15: 75,736,206 (GRCm39) |
S112P |
probably damaging |
Het |
| Ighv14-3 |
A |
G |
12: 114,023,877 (GRCm39) |
V6A |
probably benign |
Het |
| Lca5l |
T |
A |
16: 95,980,035 (GRCm39) |
S32C |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,571,765 (GRCm39) |
Y260* |
probably null |
Het |
| Lyst |
T |
C |
13: 13,821,645 (GRCm39) |
S1340P |
possibly damaging |
Het |
| Mfsd13a |
T |
G |
19: 46,355,655 (GRCm39) |
F59V |
probably damaging |
Het |
| Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
| Noa1 |
T |
C |
5: 77,454,334 (GRCm39) |
|
probably null |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Pgm1 |
C |
T |
4: 99,843,930 (GRCm39) |
T571M |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,425,853 (GRCm39) |
D30G |
probably benign |
Het |
| Rfc1 |
C |
A |
5: 65,445,271 (GRCm39) |
V460F |
probably damaging |
Het |
| Rrn3 |
A |
G |
16: 13,608,503 (GRCm39) |
D182G |
probably benign |
Het |
| Sap25 |
T |
A |
5: 137,640,507 (GRCm39) |
|
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,794,878 (GRCm39) |
I480V |
probably benign |
Het |
| Smo |
T |
C |
6: 29,759,593 (GRCm39) |
S642P |
probably damaging |
Het |
| Tbc1d22a |
A |
C |
15: 86,195,949 (GRCm39) |
I307L |
probably benign |
Het |
| Tent2 |
G |
A |
13: 93,322,833 (GRCm39) |
Q39* |
probably null |
Het |
| Ubr3 |
A |
G |
2: 69,783,212 (GRCm39) |
Q716R |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,802,918 (GRCm39) |
E276G |
probably benign |
Het |
|
| Other mutations in Zfp189 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02075:Zfp189
|
APN |
4 |
49,522,445 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1754:Zfp189
|
UTSW |
4 |
49,529,342 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1848:Zfp189
|
UTSW |
4 |
49,529,266 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1868:Zfp189
|
UTSW |
4 |
49,529,283 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1903:Zfp189
|
UTSW |
4 |
49,529,511 (GRCm39) |
nonsense |
probably null |
|
|
R2247:Zfp189
|
UTSW |
4 |
49,530,393 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2889:Zfp189
|
UTSW |
4 |
49,521,547 (GRCm39) |
start gained |
probably benign |
|
|
R4389:Zfp189
|
UTSW |
4 |
49,529,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4659:Zfp189
|
UTSW |
4 |
49,530,342 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4704:Zfp189
|
UTSW |
4 |
49,530,081 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4840:Zfp189
|
UTSW |
4 |
49,529,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Zfp189
|
UTSW |
4 |
49,530,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5013:Zfp189
|
UTSW |
4 |
49,530,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5522:Zfp189
|
UTSW |
4 |
49,529,739 (GRCm39) |
nonsense |
probably null |
|
|
R5639:Zfp189
|
UTSW |
4 |
49,530,153 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6814:Zfp189
|
UTSW |
4 |
49,529,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7372:Zfp189
|
UTSW |
4 |
49,530,417 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7491:Zfp189
|
UTSW |
4 |
49,521,569 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7680:Zfp189
|
UTSW |
4 |
49,521,547 (GRCm39) |
start gained |
probably benign |
|
|
R7800:Zfp189
|
UTSW |
4 |
49,529,367 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8023:Zfp189
|
UTSW |
4 |
49,530,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8320:Zfp189
|
UTSW |
4 |
49,530,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9225:Zfp189
|
UTSW |
4 |
49,530,193 (GRCm39) |
missense |
probably benign |
|
|
R9410:Zfp189
|
UTSW |
4 |
49,529,942 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9611:Zfp189
|
UTSW |
4 |
49,530,058 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTAGCGAAACCTTTGAAC -3'
(R):5'- GAGCTCCGACTGAAACTCTTTC -3'
Sequencing Primer
(F):5'- AGCGAAACCTTTGAACTTGTTGG -3'
(R):5'- CCACAGTCACTGCATTTATGGGG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation