Incidental Mutation 'R5216:Zfp184'
| ID |
499951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp184
|
| Ensembl Gene |
ENSMUSG00000006720 |
| Gene Name |
zinc finger protein 184 (Kruppel-like) |
| Synonyms |
4930500C15Rik |
| MMRRC Submission |
042789-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R5216 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
22129264-22144949 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 22134406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 69
(L69F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006903]
[ENSMUST00000102978]
[ENSMUST00000152258]
[ENSMUST00000176511]
[ENSMUST00000176580]
|
| AlphaFold |
Q7TSH9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006903
AA Change: L69F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006903
Gene: ENSMUSG00000006720
AA Change: L69F
| 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: L69F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100043
Gene: ENSMUSG00000006720
AA Change: L69F
| 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: ENSMUST00000141391
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152258
AA Change: L69F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135102
Gene: ENSMUSG00000006720
AA Change: L69F
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
28 |
88 |
1.14e-36 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176003
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176511
AA Change: L69F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135173
Gene: ENSMUSG00000006720
AA Change: L69F
| 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 |
unknown
Transcript: ENSMUST00000176580
AA Change: A79V
|
| SMART Domains |
Protein: ENSMUSP00000135404
Gene: ENSMUSG00000006720
AA Change: A79V
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
28 |
84 |
1.96e-17 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
A |
T |
12: 55,107,947 (GRCm39) |
V84D |
probably damaging |
Het |
| Abcb1b |
T |
C |
5: 8,863,705 (GRCm39) |
V220A |
probably benign |
Het |
| Actg1 |
A |
T |
11: 120,238,580 (GRCm39) |
M82K |
probably damaging |
Het |
| Ahi1 |
T |
C |
10: 20,835,975 (GRCm39) |
S103P |
probably benign |
Het |
| Aldh1b1 |
G |
T |
4: 45,803,652 (GRCm39) |
G397C |
probably damaging |
Het |
| Arhgef3 |
A |
G |
14: 27,123,799 (GRCm39) |
T507A |
probably benign |
Het |
| Atg7 |
A |
G |
6: 114,701,910 (GRCm39) |
D682G |
probably damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,159,102 (GRCm39) |
I783T |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,516,808 (GRCm39) |
I362V |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,920,465 (GRCm39) |
I168K |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,466,445 (GRCm39) |
Y2070N |
probably damaging |
Het |
| Cabp7 |
A |
G |
11: 4,688,873 (GRCm39) |
I199T |
probably damaging |
Het |
| Cacng5 |
A |
G |
11: 107,768,315 (GRCm39) |
F231L |
possibly damaging |
Het |
| Cngb3 |
T |
A |
4: 19,415,729 (GRCm39) |
V413D |
possibly damaging |
Het |
| Col24a1 |
G |
A |
3: 145,021,071 (GRCm39) |
E481K |
possibly damaging |
Het |
| Cspg4b |
G |
A |
13: 113,478,947 (GRCm39) |
C1497Y |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,644,665 (GRCm39) |
I560N |
possibly damaging |
Het |
| Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,833 (GRCm39) |
D230G |
probably damaging |
Het |
| Gramd4 |
G |
A |
15: 86,018,986 (GRCm39) |
|
probably null |
Het |
| Grb14 |
C |
T |
2: 64,747,653 (GRCm39) |
V369I |
probably benign |
Het |
| Hoxd1 |
A |
T |
2: 74,594,695 (GRCm39) |
N317Y |
probably damaging |
Het |
| Kcnc4 |
A |
G |
3: 107,346,757 (GRCm39) |
S623P |
probably benign |
Het |
| Klhl20 |
A |
G |
1: 160,921,249 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
| Lpin2 |
C |
T |
17: 71,549,755 (GRCm39) |
S640L |
probably damaging |
Het |
| Ltbp4 |
AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC |
AATTCAGGCCTAGGCTGGGATTCAGGC |
7: 27,026,736 (GRCm39) |
|
probably benign |
Het |
| Mgll |
T |
A |
6: 88,743,311 (GRCm39) |
C110* |
probably null |
Het |
| Mmp14 |
A |
G |
14: 54,675,120 (GRCm39) |
N251D |
possibly damaging |
Het |
| Or1e33 |
A |
T |
11: 73,738,262 (GRCm39) |
S230T |
probably damaging |
Het |
| Or52k2 |
A |
G |
7: 102,254,028 (GRCm39) |
T156A |
probably benign |
Het |
| Or7e166 |
T |
A |
9: 19,624,585 (GRCm39) |
V154E |
probably benign |
Het |
| Pfkl |
T |
G |
10: 77,845,504 (GRCm39) |
D5A |
probably damaging |
Het |
| Pik3c3 |
A |
G |
18: 30,406,029 (GRCm39) |
Y9C |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,359,043 (GRCm39) |
Y417* |
probably null |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,867,098 (GRCm39) |
M94K |
probably benign |
Het |
| Synrg |
A |
G |
11: 83,873,022 (GRCm39) |
T157A |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,478,118 (GRCm39) |
N102S |
probably benign |
Het |
| Tnip2 |
C |
T |
5: 34,661,149 (GRCm39) |
R101H |
probably damaging |
Het |
| Trmt2a |
A |
G |
16: 18,070,048 (GRCm39) |
D421G |
probably benign |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,090 (GRCm39) |
D57G |
probably benign |
Het |
| Wnt2b |
A |
G |
3: 104,868,661 (GRCm39) |
L43P |
possibly damaging |
Het |
| Zfp113 |
C |
T |
5: 138,148,977 (GRCm39) |
D56N |
probably damaging |
Het |
| Zyx |
T |
C |
6: 42,333,466 (GRCm39) |
V464A |
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 |
|
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'- TAGATGAGCTTCTCGGTTGCC -3'
(R):5'- AAATAGACTCTGTGTTGAGCTGG -3'
Sequencing Primer
(F):5'- GGTTGCCCCATTGTTAGGACAC -3'
(R):5'- CCAGATGATGCTCCGGAGAG -3'
|
| Posted On |
2017-11-30 |
Incidental Mutation