Incidental Mutation 'R2247:Zfp189'
ID |
240889 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp189
|
Ensembl Gene |
ENSMUSG00000039634 |
Gene Name |
zinc finger protein 189 |
Synonyms |
C430015I23Rik |
MMRRC Submission |
040247-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2247 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
49521176-49531517 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 49530393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 499
(C499S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103324
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042964]
[ENSMUST00000107696]
|
AlphaFold |
Q8BKP2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042964
AA Change: C499S
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000036663 Gene: ENSMUSG00000039634 AA Change: C499S
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 |
possibly damaging
Transcript: ENSMUST00000107696
AA Change: C499S
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000103324 Gene: ENSMUSG00000039634 AA Change: C499S
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
A |
G |
17: 57,184,435 (GRCm39) |
E70G |
possibly damaging |
Het |
Ash1l |
C |
A |
3: 88,914,674 (GRCm39) |
P1768Q |
possibly damaging |
Het |
Bicra |
C |
A |
7: 15,723,159 (GRCm39) |
E119D |
probably benign |
Het |
Brd2 |
A |
G |
17: 34,333,389 (GRCm39) |
F421L |
probably damaging |
Het |
Cspp1 |
A |
T |
1: 10,136,685 (GRCm39) |
Q182L |
possibly damaging |
Het |
Dnah7b |
A |
G |
1: 46,316,223 (GRCm39) |
D3112G |
probably damaging |
Het |
Dsc2 |
T |
A |
18: 20,168,369 (GRCm39) |
I697F |
probably damaging |
Het |
Ephb1 |
A |
T |
9: 101,874,010 (GRCm39) |
S555T |
probably damaging |
Het |
Fat4 |
A |
T |
3: 38,946,198 (GRCm39) |
D1697V |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Impg2 |
A |
G |
16: 56,088,627 (GRCm39) |
K1160R |
probably damaging |
Het |
Jak2 |
T |
C |
19: 29,261,036 (GRCm39) |
V344A |
probably benign |
Het |
Kcnab3 |
A |
G |
11: 69,221,016 (GRCm39) |
T168A |
probably damaging |
Het |
Kctd18 |
A |
T |
1: 58,006,801 (GRCm39) |
H16Q |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myh11 |
A |
G |
16: 14,095,423 (GRCm39) |
L113P |
probably damaging |
Het |
Myh13 |
A |
T |
11: 67,225,384 (GRCm39) |
I250F |
probably damaging |
Het |
Nin |
T |
C |
12: 70,101,319 (GRCm39) |
Y426C |
probably damaging |
Het |
Or10ab4 |
C |
T |
7: 107,654,989 (GRCm39) |
R267C |
probably benign |
Het |
Or51ab3 |
T |
A |
7: 103,201,097 (GRCm39) |
|
probably null |
Het |
Pbrm1 |
A |
G |
14: 30,796,850 (GRCm39) |
H897R |
probably damaging |
Het |
Pgap4 |
T |
C |
4: 49,586,209 (GRCm39) |
S320G |
probably benign |
Het |
Plcl2 |
T |
C |
17: 50,913,873 (GRCm39) |
V294A |
probably damaging |
Het |
Psapl1 |
A |
G |
5: 36,362,410 (GRCm39) |
E334G |
probably benign |
Het |
Pwwp3a |
A |
G |
10: 80,076,259 (GRCm39) |
Y483C |
probably damaging |
Het |
Raly |
A |
G |
2: 154,705,953 (GRCm39) |
H277R |
possibly damaging |
Het |
Ranbp9 |
T |
C |
13: 43,565,901 (GRCm39) |
K462E |
probably damaging |
Het |
Rptn |
A |
G |
3: 93,304,136 (GRCm39) |
T490A |
probably benign |
Het |
Rtl1 |
T |
C |
12: 109,561,413 (GRCm39) |
H142R |
possibly damaging |
Het |
Scart2 |
G |
A |
7: 139,829,042 (GRCm39) |
G234S |
probably null |
Het |
Shisa3 |
G |
A |
5: 67,768,666 (GRCm39) |
V189M |
probably benign |
Het |
Slc25a36 |
A |
T |
9: 96,982,191 (GRCm39) |
L28Q |
probably damaging |
Het |
Slc38a8 |
A |
G |
8: 120,212,389 (GRCm39) |
M318T |
probably benign |
Het |
Slc4a11 |
A |
T |
2: 130,529,721 (GRCm39) |
M328K |
probably benign |
Het |
Sp2 |
A |
C |
11: 96,852,844 (GRCm39) |
|
probably null |
Het |
Sult2b1 |
A |
T |
7: 45,384,734 (GRCm39) |
I114N |
probably damaging |
Het |
Synrg |
T |
C |
11: 83,900,202 (GRCm39) |
S803P |
probably damaging |
Het |
Tenm4 |
T |
A |
7: 96,555,216 (GRCm39) |
D2603E |
probably benign |
Het |
Tnfaip8 |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
18: 50,179,912 (GRCm39) |
|
probably null |
Het |
Zfp236 |
A |
G |
18: 82,622,423 (GRCm39) |
F1621S |
possibly damaging |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTCGGAGCTCATTCCTTATTG -3'
(R):5'- CTGACAAGTAAAGGCTTCGC -3'
Sequencing Primer
(F):5'- TGATCCAAACTGCAGTCTGG -3'
(R):5'- GCTGCGCTGTTGACTAAAAC -3'
|
Posted On |
2014-10-15 |