Incidental Mutation 'R4237:Zfp184'
| ID |
321189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp184
|
| Ensembl Gene |
ENSMUSG00000006720 |
| Gene Name |
zinc finger protein 184 (Kruppel-like) |
| Synonyms |
4930500C15Rik |
| MMRRC Submission |
041054-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R4237 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
22129264-22144949 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 22142948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 218
(R218H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006903]
[ENSMUST00000102978]
[ENSMUST00000176511]
[ENSMUST00000176580]
|
| AlphaFold |
Q7TSH9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006903
AA Change: R218H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006903
Gene: ENSMUSG00000006720
AA Change: R218H
| 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 damaging
Transcript: ENSMUST00000102978
AA Change: R218H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100043
Gene: ENSMUSG00000006720
AA Change: R218H
| 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: ENSMUST00000119018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176003
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176511
AA Change: R218H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135173
Gene: ENSMUSG00000006720
AA Change: R218H
| 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 |
|
| Meta Mutation Damage Score |
0.2074 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (44/44) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
C |
9: 55,888,126 (GRCm39) |
D397G |
probably benign |
Het |
| 6820408C15Rik |
C |
T |
2: 152,270,873 (GRCm39) |
T32I |
possibly damaging |
Het |
| Abca13 |
A |
G |
11: 9,384,188 (GRCm39) |
K3880R |
probably benign |
Het |
| Ahnak |
C |
T |
19: 8,979,147 (GRCm39) |
L144F |
probably benign |
Het |
| Antxr2 |
A |
T |
5: 98,086,266 (GRCm39) |
I447N |
probably damaging |
Het |
| Cdc20 |
C |
T |
4: 118,290,257 (GRCm39) |
R468Q |
probably damaging |
Het |
| Clip2 |
A |
G |
5: 134,564,051 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
A |
T |
6: 46,507,324 (GRCm39) |
|
probably benign |
Het |
| Ddi1 |
A |
G |
9: 6,265,799 (GRCm39) |
M190T |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,695,487 (GRCm39) |
V148A |
possibly damaging |
Het |
| Dpp8 |
A |
G |
9: 64,962,205 (GRCm39) |
D415G |
probably benign |
Het |
| Galnt11 |
G |
A |
5: 25,470,258 (GRCm39) |
R569Q |
probably benign |
Het |
| Gpr6 |
T |
C |
10: 40,946,604 (GRCm39) |
N326S |
probably damaging |
Het |
| Hexb |
T |
C |
13: 97,313,259 (GRCm39) |
|
probably benign |
Het |
| Ighv3-4 |
A |
T |
12: 114,217,533 (GRCm39) |
D19E |
probably benign |
Het |
| L3mbtl3 |
G |
A |
10: 26,216,846 (GRCm39) |
A181V |
unknown |
Het |
| Lrrc37a |
G |
A |
11: 103,393,115 (GRCm39) |
T770I |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,188,597 (GRCm39) |
S270P |
probably damaging |
Het |
| Or2d2 |
A |
G |
7: 106,728,244 (GRCm39) |
S119P |
probably damaging |
Het |
| Or6a2 |
T |
C |
7: 106,600,536 (GRCm39) |
N177S |
probably damaging |
Het |
| Or7g32 |
C |
T |
9: 19,388,893 (GRCm39) |
V215I |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,805,170 (GRCm39) |
T181A |
probably benign |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Proca1 |
A |
G |
11: 78,095,752 (GRCm39) |
N128S |
probably benign |
Het |
| Psmd8 |
G |
A |
7: 28,876,546 (GRCm39) |
P155L |
probably damaging |
Het |
| Rad54l |
A |
G |
4: 115,956,646 (GRCm39) |
V500A |
probably damaging |
Het |
| Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
| Serpinb10 |
C |
T |
1: 107,466,179 (GRCm39) |
T55M |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,395 (GRCm39) |
E314G |
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Tdrd9 |
C |
T |
12: 112,034,059 (GRCm39) |
R1334* |
probably null |
Het |
| Trank1 |
A |
G |
9: 111,196,103 (GRCm39) |
I1376V |
probably benign |
Het |
| Trim28 |
T |
A |
7: 12,761,838 (GRCm39) |
H268Q |
possibly damaging |
Het |
| Vmn2r76 |
T |
A |
7: 85,879,740 (GRCm39) |
I187L |
probably benign |
Het |
| Wdr95 |
A |
T |
5: 149,486,802 (GRCm39) |
R160* |
probably null |
Het |
| Wnt5a |
T |
C |
14: 28,244,823 (GRCm39) |
C357R |
probably damaging |
Het |
| Zfp157 |
A |
G |
5: 138,445,803 (GRCm39) |
I53V |
probably damaging |
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 |
|
|
R0393:Zfp184
|
UTSW |
13 |
22,131,252 (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 |
|
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'- TGAGAGCAACCTCAGTGTG -3'
(R):5'- GACTAAAGGCCTTCCCACATTC -3'
Sequencing Primer
(F):5'- GCAACCTCAGTGTGAGCTCAAG -3'
(R):5'- CCACATTCATCACATTTATAGGGC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation