Incidental Mutation 'R5490:Zfp184'
ID |
432055 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp184
|
Ensembl Gene |
ENSMUSG00000006720 |
Gene Name |
zinc finger protein 184 (Kruppel-like) |
Synonyms |
4930500C15Rik |
MMRRC Submission |
043051-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R5490 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
22129264-22144949 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 22142747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 151
(V151D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135173
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006903]
[ENSMUST00000102978]
[ENSMUST00000176511]
[ENSMUST00000176580]
|
AlphaFold |
Q7TSH9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006903
AA Change: V151D
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000006903 Gene: ENSMUSG00000006720 AA Change: V151D
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
AA Change: V151D
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000100043 Gene: ENSMUSG00000006720 AA Change: V151D
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: ENSMUST00000141391
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176003
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176511
AA Change: V151D
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000135173 Gene: ENSMUSG00000006720 AA Change: V151D
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: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.8%
|
Validation Efficiency |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
C |
T |
11: 84,401,099 (GRCm39) |
G174D |
probably damaging |
Het |
Abcc1 |
G |
T |
16: 14,228,781 (GRCm39) |
G343C |
probably damaging |
Het |
Asic2 |
T |
C |
11: 80,780,646 (GRCm39) |
N370S |
probably benign |
Het |
Btnl9 |
T |
C |
11: 49,060,395 (GRCm39) |
E451G |
probably damaging |
Het |
Cblb |
A |
G |
16: 51,994,733 (GRCm39) |
H658R |
possibly damaging |
Het |
Cdca2 |
T |
C |
14: 67,917,733 (GRCm39) |
E555G |
possibly damaging |
Het |
Chfr |
A |
G |
5: 110,300,995 (GRCm39) |
S299G |
possibly damaging |
Het |
Eea1 |
A |
G |
10: 95,861,916 (GRCm39) |
E741G |
probably benign |
Het |
Gapvd1 |
T |
C |
2: 34,583,445 (GRCm39) |
D1057G |
probably benign |
Het |
Glyat |
C |
T |
19: 12,627,645 (GRCm39) |
T80M |
probably benign |
Het |
Gpr87 |
T |
C |
3: 59,086,747 (GRCm39) |
S253G |
probably damaging |
Het |
Hapstr1 |
T |
A |
16: 8,673,721 (GRCm39) |
V216E |
probably damaging |
Het |
Hmgxb3 |
A |
G |
18: 61,296,049 (GRCm39) |
S320P |
probably damaging |
Het |
Kcnq5 |
C |
T |
1: 21,549,692 (GRCm39) |
G345D |
probably damaging |
Het |
Kif5c |
T |
C |
2: 49,648,870 (GRCm39) |
V938A |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Madd |
G |
T |
2: 91,000,980 (GRCm39) |
T467K |
possibly damaging |
Het |
Mamdc4 |
T |
C |
2: 25,455,890 (GRCm39) |
D706G |
probably damaging |
Het |
Map2 |
A |
G |
1: 66,452,292 (GRCm39) |
H476R |
probably damaging |
Het |
Mgat4f |
A |
G |
1: 134,317,666 (GRCm39) |
D146G |
probably damaging |
Het |
Mpeg1 |
T |
C |
19: 12,439,057 (GRCm39) |
S172P |
probably damaging |
Het |
Nkx2-3 |
A |
T |
19: 43,601,093 (GRCm39) |
T52S |
probably benign |
Het |
Nup210 |
C |
T |
6: 91,062,970 (GRCm39) |
V230I |
probably damaging |
Het |
Or1j19 |
T |
A |
2: 36,677,193 (GRCm39) |
Y219N |
probably damaging |
Het |
Or51f2 |
T |
C |
7: 102,527,100 (GRCm39) |
S258P |
probably damaging |
Het |
Or5g9 |
G |
T |
2: 85,552,666 (GRCm39) |
A306S |
probably benign |
Het |
Pepd |
A |
G |
7: 34,642,115 (GRCm39) |
|
probably null |
Het |
Ppp1r36 |
T |
A |
12: 76,484,760 (GRCm39) |
W238R |
probably damaging |
Het |
Ppp1r36 |
G |
T |
12: 76,484,761 (GRCm39) |
W238L |
possibly damaging |
Het |
Prpf6 |
T |
G |
2: 181,249,958 (GRCm39) |
D39E |
probably benign |
Het |
Rassf5 |
T |
A |
1: 131,108,932 (GRCm39) |
Q163L |
possibly damaging |
Het |
Rbm43 |
T |
A |
2: 51,815,607 (GRCm39) |
T205S |
probably benign |
Het |
Relch |
T |
A |
1: 105,647,226 (GRCm39) |
V672D |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Sds |
C |
A |
5: 120,621,715 (GRCm39) |
Q286K |
possibly damaging |
Het |
Slc35a3 |
A |
T |
3: 116,474,839 (GRCm39) |
C184* |
probably null |
Het |
Smg1 |
G |
A |
7: 117,738,659 (GRCm39) |
T3530I |
possibly damaging |
Het |
Sspo |
T |
C |
6: 48,470,214 (GRCm39) |
V591A |
probably benign |
Het |
Stam2 |
T |
C |
2: 52,610,929 (GRCm39) |
D31G |
probably damaging |
Het |
Star |
A |
G |
8: 26,299,945 (GRCm39) |
K96E |
probably damaging |
Het |
Syne3 |
A |
G |
12: 104,921,931 (GRCm39) |
L495P |
probably damaging |
Het |
Tceanc2 |
A |
T |
4: 107,022,846 (GRCm39) |
M47K |
probably benign |
Het |
Tecpr2 |
T |
C |
12: 110,881,118 (GRCm39) |
L85P |
probably damaging |
Het |
Tmem241 |
C |
T |
18: 12,176,320 (GRCm39) |
R116K |
probably benign |
Het |
Yipf2 |
G |
A |
9: 21,503,487 (GRCm39) |
A20V |
probably benign |
Het |
Zc3h4 |
T |
A |
7: 16,162,930 (GRCm39) |
D443E |
unknown |
Het |
Zhx1 |
T |
C |
15: 57,916,695 (GRCm39) |
Y517C |
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 |
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 |
|
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'- AATAGATAATCTCCAACAAGGGCAG -3'
(R):5'- AAAGCTTTACCACATTCGTTGC -3'
Sequencing Primer
(F):5'- ATCTCCAACAAGGGCAGTTTTC -3'
(R):5'- ACATTCGTTGCACTTACACAG -3'
|
Posted On |
2016-10-05 |