Incidental Mutation 'R8214:Zfp184'
ID |
636323 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp184
|
Ensembl Gene |
ENSMUSG00000006720 |
Gene Name |
zinc finger protein 184 (Kruppel-like) |
Synonyms |
4930500C15Rik |
MMRRC Submission |
067656-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R8214 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
22129264-22144949 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 22142995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 234
(C234S)
|
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: C234S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000006903 Gene: ENSMUSG00000006720 AA Change: C234S
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: C234S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000100043 Gene: ENSMUSG00000006720 AA Change: C234S
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: ENSMUST00000176511
AA Change: C234S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135173 Gene: ENSMUSG00000006720 AA Change: C234S
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 |
0.8909 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (42/42) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930438A08Rik |
G |
A |
11: 58,177,447 (GRCm39) |
R52Q |
|
Het |
Abcc3 |
C |
T |
11: 94,254,344 (GRCm39) |
R718H |
probably damaging |
Het |
Abcc4 |
T |
C |
14: 118,738,253 (GRCm39) |
M1166V |
probably benign |
Het |
Abhd16b |
C |
T |
2: 181,135,983 (GRCm39) |
T295I |
probably damaging |
Het |
Amph |
A |
G |
13: 19,288,468 (GRCm39) |
N319S |
possibly damaging |
Het |
Ankrd27 |
A |
G |
7: 35,313,944 (GRCm39) |
D425G |
probably damaging |
Het |
Atg4b |
T |
C |
1: 93,712,609 (GRCm39) |
S316P |
probably damaging |
Het |
Brd4 |
A |
G |
17: 32,431,921 (GRCm39) |
S649P |
probably benign |
Het |
Bzw1 |
T |
C |
1: 58,444,196 (GRCm39) |
S411P |
probably damaging |
Het |
Carmil1 |
T |
C |
13: 24,228,215 (GRCm39) |
E987G |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,021,711 (GRCm39) |
D3537G |
probably damaging |
Het |
Dnpep |
A |
T |
1: 75,292,642 (GRCm39) |
W126R |
probably damaging |
Het |
Efcab2 |
T |
C |
1: 178,265,015 (GRCm39) |
V27A |
probably benign |
Het |
Kctd21 |
T |
C |
7: 96,996,548 (GRCm39) |
L7P |
probably damaging |
Het |
Kidins220 |
C |
T |
12: 25,044,854 (GRCm39) |
T216I |
probably damaging |
Het |
Lpl |
T |
A |
8: 69,345,257 (GRCm39) |
M87K |
probably damaging |
Het |
Ltn1 |
A |
G |
16: 87,177,691 (GRCm39) |
V1646A |
probably benign |
Het |
Madcam1 |
A |
G |
10: 79,502,592 (GRCm39) |
T359A |
probably benign |
Het |
Muc5ac |
A |
G |
7: 141,356,685 (GRCm39) |
K1092E |
possibly damaging |
Het |
Nrg2 |
T |
C |
18: 36,329,729 (GRCm39) |
E162G |
probably benign |
Het |
Or10ak11 |
A |
T |
4: 118,687,288 (GRCm39) |
F117L |
probably benign |
Het |
Or52e2 |
A |
C |
7: 102,804,613 (GRCm39) |
S114A |
probably damaging |
Het |
Or5p54 |
T |
A |
7: 107,554,174 (GRCm39) |
S109T |
probably benign |
Het |
Pcdhb5 |
G |
T |
18: 37,454,636 (GRCm39) |
V339L |
probably benign |
Het |
Plec |
A |
G |
15: 76,076,484 (GRCm39) |
W145R |
unknown |
Het |
Polr3f |
A |
G |
2: 144,378,230 (GRCm39) |
N201D |
probably benign |
Het |
Skint5 |
T |
C |
4: 113,662,139 (GRCm39) |
|
probably null |
Het |
Slc12a2 |
A |
G |
18: 58,070,791 (GRCm39) |
I1048V |
probably benign |
Het |
Sult2a4 |
A |
G |
7: 13,723,401 (GRCm39) |
I39T |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,544,614 (GRCm39) |
V2247A |
probably damaging |
Het |
Tg |
C |
T |
15: 66,645,247 (GRCm39) |
R2385C |
probably damaging |
Het |
Tomm70a |
G |
T |
16: 56,942,330 (GRCm39) |
A36S |
unknown |
Het |
Top2b |
G |
A |
14: 16,383,177 (GRCm38) |
R55H |
probably damaging |
Het |
Tut4 |
A |
G |
4: 108,369,347 (GRCm39) |
I636V |
probably benign |
Het |
Unc45b |
A |
G |
11: 82,824,714 (GRCm39) |
I629M |
possibly damaging |
Het |
Vmn1r16 |
T |
C |
6: 57,300,424 (GRCm39) |
E66G |
noncoding transcript |
Het |
Vmn1r189 |
C |
T |
13: 22,286,301 (GRCm39) |
V179I |
probably benign |
Het |
Vmn2r105 |
T |
G |
17: 20,448,775 (GRCm39) |
E134A |
probably benign |
Het |
Wdr70 |
G |
A |
15: 7,916,851 (GRCm39) |
A522V |
probably benign |
Het |
Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
possibly 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 |
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 |
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'- ACCCACTTGTGAGAGCAAC -3'
(R):5'- CCCACATTCATCACATTTATAGGGC -3'
Sequencing Primer
(F):5'- CACTTGTGAGAGCAACCTCAGTG -3'
(R):5'- ACATTTATAGGGCTTTTCTCCAGTG -3'
|
Posted On |
2020-07-13 |