Incidental Mutation 'R5105:Zfp184'
| ID |
401998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp184
|
| Ensembl Gene |
ENSMUSG00000006720 |
| Gene Name |
zinc finger protein 184 (Kruppel-like) |
| Synonyms |
4930500C15Rik |
| MMRRC Submission |
042693-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R5105 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
22129264-22144949 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22143799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 502
(T502A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006903]
[ENSMUST00000102978]
[ENSMUST00000176511]
[ENSMUST00000176580]
|
| AlphaFold |
Q7TSH9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006903
AA Change: T502A
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000006903
Gene: ENSMUSG00000006720
AA Change: T502A
| 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 |
possibly damaging
Transcript: ENSMUST00000102978
AA Change: T502A
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000100043
Gene: ENSMUSG00000006720
AA Change: T502A
| 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 |
possibly damaging
Transcript: ENSMUST00000176511
AA Change: T502A
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000135173
Gene: ENSMUSG00000006720
AA Change: T502A
| 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 |
0.2506 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
96% (52/54) |
| 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 |
|---|
| Btbd8 |
T |
G |
5: 107,658,337 (GRCm39) |
S1124A |
possibly damaging |
Het |
| Camsap1 |
A |
G |
2: 25,830,941 (GRCm39) |
S445P |
probably damaging |
Het |
| Ccdc92 |
G |
A |
5: 124,912,858 (GRCm39) |
P224S |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,741,939 (GRCm39) |
V125A |
probably benign |
Het |
| Cep192 |
T |
A |
18: 67,999,612 (GRCm39) |
C2159S |
probably benign |
Het |
| Col1a1 |
G |
T |
11: 94,833,211 (GRCm39) |
R404L |
unknown |
Het |
| Col6a3 |
A |
T |
1: 90,725,862 (GRCm39) |
M1382K |
possibly damaging |
Het |
| Cyp4a12b |
T |
C |
4: 115,290,958 (GRCm39) |
S329P |
probably damaging |
Het |
| Dclk1 |
T |
G |
3: 55,163,360 (GRCm39) |
S151A |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,894,864 (GRCm39) |
V202E |
probably benign |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,888,546 (GRCm39) |
E3050G |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,584,366 (GRCm39) |
F590I |
probably damaging |
Het |
| Eif4b |
T |
C |
15: 101,992,631 (GRCm39) |
Y63H |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,520,110 (GRCm39) |
E452G |
possibly damaging |
Het |
| Gpx3 |
A |
T |
11: 54,797,980 (GRCm39) |
T39S |
possibly damaging |
Het |
| Grin2b |
T |
A |
6: 135,709,439 (GRCm39) |
Y1369F |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,667,396 (GRCm39) |
N350K |
probably benign |
Het |
| Kdm5d |
A |
G |
Y: 941,752 (GRCm39) |
K1318E |
probably benign |
Het |
| Large1 |
A |
T |
8: 73,578,872 (GRCm39) |
Y444* |
probably null |
Het |
| Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,091,435 (GRCm39) |
|
probably null |
Het |
| Lrrc47 |
A |
G |
4: 154,096,673 (GRCm39) |
Q156R |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,704,632 (GRCm39) |
L220P |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,355,814 (GRCm39) |
D273G |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 112,988,644 (GRCm39) |
I981F |
probably damaging |
Het |
| Or1q1 |
G |
A |
2: 36,887,469 (GRCm39) |
|
probably null |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or5aq1 |
A |
G |
2: 86,966,554 (GRCm39) |
I37T |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,462 (GRCm39) |
Y74H |
probably damaging |
Het |
| Or8d6 |
T |
C |
9: 39,853,694 (GRCm39) |
V46A |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,700,585 (GRCm39) |
T1784A |
probably damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,559,490 (GRCm39) |
V422A |
possibly damaging |
Het |
| Rlf |
G |
A |
4: 121,007,564 (GRCm39) |
T472I |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,318,313 (GRCm39) |
E417G |
probably damaging |
Het |
| Shisa2 |
A |
T |
14: 59,867,263 (GRCm39) |
T172S |
possibly damaging |
Het |
| Siglec1 |
T |
A |
2: 130,922,320 (GRCm39) |
Q585L |
possibly damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,213,579 (GRCm39) |
M716K |
possibly damaging |
Het |
| Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
| Stxbp5l |
C |
A |
16: 36,962,734 (GRCm39) |
V774F |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,568,259 (GRCm39) |
F699S |
probably damaging |
Het |
| Tmem87b |
T |
C |
2: 128,673,509 (GRCm39) |
V251A |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,649,471 (GRCm39) |
N560K |
probably benign |
Het |
| Trpv4 |
T |
A |
5: 114,764,981 (GRCm39) |
I678F |
probably damaging |
Het |
| Ttc3 |
A |
T |
16: 94,267,793 (GRCm39) |
H1935L |
possibly damaging |
Het |
| Vmn2r59 |
T |
A |
7: 41,696,529 (GRCm39) |
Y71F |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,003,415 (GRCm39) |
I2900T |
probably damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,551 (GRCm39) |
I1019V |
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 |
|
|
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 |
|
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'- AATTCATACAGGAGAGAAGCCC -3'
(R):5'- GAAAGGTCTTCCCGCACTTG -3'
Sequencing Primer
(F):5'- AGCCCTACAAGTGTAGCGACTG -3'
(R):5'- GCCCACATTCATTACACTTGTAAGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation