Incidental Mutation 'IGL02075:Zfp189'
| ID |
185965 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp189
|
| Ensembl Gene |
ENSMUSG00000039634 |
| Gene Name |
zinc finger protein 189 |
| Synonyms |
C430015I23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02075
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
49521176-49531517 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49522445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 27
(D27E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042964]
[ENSMUST00000057829]
[ENSMUST00000107696]
|
| AlphaFold |
Q8BKP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042964
AA Change: D27E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000036663
Gene: ENSMUSG00000039634
AA Change: D27E
| 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 benign
Transcript: ENSMUST00000057829
|
| SMART Domains |
Protein: ENSMUSP00000062476
Gene: ENSMUSG00000044018
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
55 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_L50
|
61 |
156 |
1.3e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107696
AA Change: D27E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103324
Gene: ENSMUSG00000039634
AA Change: D27E
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429P17Rik |
A |
G |
13: 48,114,224 (GRCm39) |
|
noncoding transcript |
Het |
| Abcd4 |
A |
T |
12: 84,655,578 (GRCm39) |
|
probably null |
Het |
| Agrn |
A |
T |
4: 156,254,667 (GRCm39) |
M1548K |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,246,945 (GRCm39) |
S565P |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,438,537 (GRCm39) |
I126M |
probably damaging |
Het |
| Btbd9 |
G |
A |
17: 30,493,910 (GRCm39) |
R494* |
probably null |
Het |
| Coro1c |
G |
T |
5: 113,982,454 (GRCm39) |
R461S |
probably damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,451,165 (GRCm39) |
K19E |
probably damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,077,397 (GRCm39) |
T400A |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,134,379 (GRCm39) |
Y390C |
probably benign |
Het |
| Ly75 |
G |
T |
2: 60,182,700 (GRCm39) |
S534R |
probably damaging |
Het |
| Mapk15 |
A |
G |
15: 75,866,737 (GRCm39) |
E38G |
probably benign |
Het |
| Or9i2 |
T |
A |
19: 13,815,830 (GRCm39) |
T236S |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,528,070 (GRCm39) |
N1924K |
probably benign |
Het |
| Plekhm2 |
T |
A |
4: 141,355,617 (GRCm39) |
H861L |
probably benign |
Het |
| Pramel25 |
T |
A |
4: 143,521,602 (GRCm39) |
F406Y |
probably benign |
Het |
| Rufy4 |
A |
T |
1: 74,168,518 (GRCm39) |
K100N |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,088,496 (GRCm39) |
E879G |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,803,514 (GRCm39) |
N345S |
possibly damaging |
Het |
| Tacc2 |
C |
T |
7: 130,330,582 (GRCm39) |
P1996S |
probably benign |
Het |
| Tfcp2 |
A |
G |
15: 100,411,061 (GRCm39) |
|
probably benign |
Het |
| Trpm8 |
A |
G |
1: 88,253,210 (GRCm39) |
T100A |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,765,304 (GRCm39) |
T2507A |
probably benign |
Het |
| Vmn2r118 |
T |
C |
17: 55,917,517 (GRCm39) |
T332A |
probably benign |
Het |
|
| Other mutations in Zfp189 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4920:Zfp189
|
UTSW |
4 |
49,529,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation