Incidental Mutation 'R0393:Zfp184'
| ID |
31813 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp184
|
| Ensembl Gene |
ENSMUSG00000006720 |
| Gene Name |
zinc finger protein 184 (Kruppel-like) |
| Synonyms |
4930500C15Rik |
| MMRRC Submission |
038599-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R0393 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
22129264-22144949 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 22131252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006903]
[ENSMUST00000102978]
[ENSMUST00000152258]
[ENSMUST00000176511]
[ENSMUST00000176580]
|
| AlphaFold |
Q7TSH9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006903
|
| SMART Domains |
Protein: ENSMUSP00000006903
Gene: ENSMUSG00000006720
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
28 |
88 |
1.14e-36 |
SMART |
|
ZnF_C2H2
|
201 |
223 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
229 |
251 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
5.29e-5 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
453 |
475 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
481 |
503 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
509 |
531 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
537 |
559 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
565 |
587 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
593 |
615 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
621 |
643 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
649 |
671 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
679 |
698 |
4.27e1 |
SMART |
|
ZnF_C2H2
|
704 |
726 |
1.23e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102978
|
| SMART Domains |
Protein: ENSMUSP00000100043
Gene: ENSMUSG00000006720
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
28 |
88 |
1.14e-36 |
SMART |
|
ZnF_C2H2
|
201 |
223 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
229 |
251 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
5.29e-5 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
453 |
475 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
481 |
503 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
509 |
531 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
537 |
559 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
565 |
587 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
593 |
615 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
621 |
643 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
649 |
671 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
679 |
698 |
4.27e1 |
SMART |
|
ZnF_C2H2
|
704 |
726 |
1.23e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124912
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152258
|
| SMART Domains |
Protein: ENSMUSP00000135102
Gene: ENSMUSG00000006720
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
28 |
88 |
1.14e-36 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176003
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176511
|
| SMART Domains |
Protein: ENSMUSP00000135173
Gene: ENSMUSG00000006720
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
28 |
88 |
1.14e-36 |
SMART |
|
ZnF_C2H2
|
201 |
223 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
229 |
251 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
5.29e-5 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
453 |
475 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
481 |
503 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
509 |
531 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
537 |
559 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
565 |
587 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
593 |
615 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
621 |
643 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
649 |
671 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
679 |
698 |
4.27e1 |
SMART |
|
ZnF_C2H2
|
704 |
726 |
1.23e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176580
|
| SMART Domains |
Protein: ENSMUSP00000135404
Gene: ENSMUSG00000006720
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
28 |
84 |
1.96e-17 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.9%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is predicted to be a Kruppel C2H2-type zinc-finger protein family member. Sequence analysis predicts that the protein contains two Kruppel associated box (KRAB) boxes in the N-terminus and highly conserved zinc finger motifs at the C-terminus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
C |
T |
6: 142,591,604 (GRCm39) |
|
probably benign |
Het |
| Akr1b7 |
T |
G |
6: 34,392,335 (GRCm39) |
Y49* |
probably null |
Het |
| Ankrd10 |
G |
T |
8: 11,685,482 (GRCm39) |
R46S |
possibly damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,085,681 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,965,221 (GRCm39) |
|
probably null |
Het |
| Bicd2 |
C |
T |
13: 49,533,346 (GRCm39) |
T644M |
probably damaging |
Het |
| Ccr9 |
A |
T |
9: 123,609,035 (GRCm39) |
H239L |
probably benign |
Het |
| Cd180 |
A |
T |
13: 102,842,408 (GRCm39) |
N485Y |
probably damaging |
Het |
| Ces1d |
T |
A |
8: 93,919,400 (GRCm39) |
S131C |
probably damaging |
Het |
| Cnpy2 |
T |
A |
10: 128,162,076 (GRCm39) |
S116R |
probably benign |
Het |
| Crym |
T |
C |
7: 119,788,972 (GRCm39) |
K285R |
probably benign |
Het |
| Cyp2a4 |
A |
T |
7: 26,012,293 (GRCm39) |
I359F |
possibly damaging |
Het |
| Cyp2b10 |
T |
A |
7: 25,614,359 (GRCm39) |
|
probably benign |
Het |
| Dcpp3 |
A |
T |
17: 24,136,925 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,927,364 (GRCm39) |
I1340K |
probably benign |
Het |
| Fbln1 |
T |
C |
15: 85,111,277 (GRCm39) |
C144R |
probably damaging |
Het |
| Gm1553 |
T |
C |
10: 82,328,010 (GRCm39) |
R66G |
unknown |
Het |
| Il10rb |
G |
A |
16: 91,208,898 (GRCm39) |
V103I |
probably benign |
Het |
| Irak1bp1 |
T |
A |
9: 82,728,614 (GRCm39) |
W182R |
probably benign |
Het |
| Kcna3 |
T |
C |
3: 106,944,315 (GRCm39) |
S193P |
probably damaging |
Het |
| Kif14 |
C |
T |
1: 136,410,156 (GRCm39) |
H628Y |
probably damaging |
Het |
| Krt31 |
A |
G |
11: 99,941,079 (GRCm39) |
L77P |
probably damaging |
Het |
| Krt36 |
C |
T |
11: 99,994,940 (GRCm39) |
A211T |
possibly damaging |
Het |
| L3mbtl2 |
C |
T |
15: 81,552,942 (GRCm39) |
A125V |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,137,892 (GRCm39) |
T743A |
probably benign |
Het |
| Lyst |
C |
T |
13: 13,821,664 (GRCm39) |
T1346M |
probably benign |
Het |
| Mapkbp1 |
T |
A |
2: 119,843,384 (GRCm39) |
|
probably null |
Het |
| Mif |
T |
C |
10: 75,695,638 (GRCm39) |
D55G |
probably benign |
Het |
| Mlh3 |
G |
T |
12: 85,314,361 (GRCm39) |
C608* |
probably null |
Het |
| Mlip |
A |
T |
9: 77,146,859 (GRCm39) |
C85S |
probably benign |
Het |
| Mug1 |
T |
C |
6: 121,826,809 (GRCm39) |
S211P |
possibly damaging |
Het |
| Mybl2 |
T |
A |
2: 162,903,528 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
C |
T |
11: 67,196,843 (GRCm39) |
|
probably benign |
Het |
| Nanos1 |
A |
G |
19: 60,745,368 (GRCm39) |
Y222C |
probably damaging |
Het |
| Or10ag52 |
A |
T |
2: 87,044,037 (GRCm39) |
Y267F |
probably benign |
Het |
| Or2n1e |
G |
T |
17: 38,585,774 (GRCm39) |
M37I |
probably benign |
Het |
| Or5d16 |
T |
C |
2: 87,773,909 (GRCm39) |
D21G |
possibly damaging |
Het |
| Papolb |
A |
G |
5: 142,515,211 (GRCm39) |
V144A |
probably damaging |
Het |
| Pctp |
A |
G |
11: 89,876,945 (GRCm39) |
S185P |
probably benign |
Het |
| Plod1 |
A |
T |
4: 148,003,298 (GRCm39) |
L509Q |
probably null |
Het |
| Ppp1r13b |
C |
A |
12: 111,802,122 (GRCm39) |
M290I |
probably benign |
Het |
| Ralb |
G |
C |
1: 119,405,856 (GRCm39) |
|
probably null |
Het |
| Rxylt1 |
T |
C |
10: 121,931,841 (GRCm39) |
|
probably benign |
Het |
| Slc4a8 |
T |
A |
15: 100,672,519 (GRCm39) |
D18E |
probably damaging |
Het |
| Speg |
A |
C |
1: 75,400,568 (GRCm39) |
H2576P |
possibly damaging |
Het |
| Spock1 |
T |
C |
13: 57,588,349 (GRCm39) |
D241G |
probably damaging |
Het |
| Tcam1 |
T |
A |
11: 106,175,040 (GRCm39) |
V165E |
probably benign |
Het |
| Thbs1 |
T |
A |
2: 117,943,472 (GRCm39) |
V30E |
possibly damaging |
Het |
| Tll2 |
A |
G |
19: 41,077,265 (GRCm39) |
Y834H |
possibly damaging |
Het |
| Trpm6 |
G |
A |
19: 18,756,008 (GRCm39) |
D84N |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,737,427 (GRCm39) |
Q1039L |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,138,171 (GRCm39) |
|
probably benign |
Het |
| Vmn1r74 |
T |
C |
7: 11,581,242 (GRCm39) |
Y181H |
possibly damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,304,395 (GRCm39) |
T679A |
probably benign |
Het |
| Vmn2r91 |
A |
T |
17: 18,325,712 (GRCm39) |
Y110F |
probably damaging |
Het |
| Zbtb40 |
A |
C |
4: 136,745,842 (GRCm39) |
S64A |
probably benign |
Het |
|
| Other mutations in Zfp184 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01674:Zfp184
|
APN |
13 |
22,134,395 (GRCm39) |
splice site |
probably benign |
|
|
R0636:Zfp184
|
UTSW |
13 |
22,133,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1657:Zfp184
|
UTSW |
13 |
22,143,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1718:Zfp184
|
UTSW |
13 |
22,143,442 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4237:Zfp184
|
UTSW |
13 |
22,142,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4326:Zfp184
|
UTSW |
13 |
22,144,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4327:Zfp184
|
UTSW |
13 |
22,144,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4328:Zfp184
|
UTSW |
13 |
22,144,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4877:Zfp184
|
UTSW |
13 |
22,144,498 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4941:Zfp184
|
UTSW |
13 |
22,133,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5014:Zfp184
|
UTSW |
13 |
22,142,594 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5054:Zfp184
|
UTSW |
13 |
22,143,452 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5105:Zfp184
|
UTSW |
13 |
22,143,799 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5216:Zfp184
|
UTSW |
13 |
22,134,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5379:Zfp184
|
UTSW |
13 |
22,144,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5387:Zfp184
|
UTSW |
13 |
22,133,810 (GRCm39) |
intron |
probably benign |
|
|
R5490:Zfp184
|
UTSW |
13 |
22,142,747 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6220:Zfp184
|
UTSW |
13 |
22,144,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6752:Zfp184
|
UTSW |
13 |
22,143,578 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7088:Zfp184
|
UTSW |
13 |
22,144,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7653:Zfp184
|
UTSW |
13 |
22,143,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7980:Zfp184
|
UTSW |
13 |
22,144,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8056:Zfp184
|
UTSW |
13 |
22,143,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8214:Zfp184
|
UTSW |
13 |
22,142,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8235:Zfp184
|
UTSW |
13 |
22,144,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8748:Zfp184
|
UTSW |
13 |
22,144,217 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8891:Zfp184
|
UTSW |
13 |
22,143,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9024:Zfp184
|
UTSW |
13 |
22,143,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9082:Zfp184
|
UTSW |
13 |
22,143,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9344:Zfp184
|
UTSW |
13 |
22,144,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9436:Zfp184
|
UTSW |
13 |
22,133,898 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9568:Zfp184
|
UTSW |
13 |
22,142,897 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9664:Zfp184
|
UTSW |
13 |
22,144,096 (GRCm39) |
missense |
probably benign |
|
|
R9709:Zfp184
|
UTSW |
13 |
22,143,665 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
X0057:Zfp184
|
UTSW |
13 |
22,143,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTCTGCTGAGCCTTCTCAGGATG -3'
(R):5'- AGTGGTGAATGACTGCTGAAGCTG -3'
Sequencing Primer
(F):5'- AGCCTTCTCAGGATGGTACAG -3'
(R):5'- AATGACTGCTGAAGCTGTTGAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation