Incidental Mutation 'R1657:Zfp184'
| ID |
186482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp184
|
| Ensembl Gene |
ENSMUSG00000006720 |
| Gene Name |
zinc finger protein 184 (Kruppel-like) |
| Synonyms |
|
| MMRRC Submission |
039693-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R1657 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
21945094-21960779 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21959273 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 383
(T383M)
|
| 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: T383M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000006903
Gene: ENSMUSG00000006720
AA Change: T383M
| 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: T383M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000100043
Gene: ENSMUSG00000006720
AA Change: T383M
| 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: T383M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135173
Gene: ENSMUSG00000006720
AA Change: T383M
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
G |
11: 84,264,084 (GRCm38) |
D988E |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,180,601 (GRCm38) |
V1185A |
probably damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,156,055 (GRCm38) |
V391A |
probably damaging |
Het |
| Armh4 |
G |
C |
14: 49,773,560 (GRCm38) |
T230S |
probably damaging |
Het |
| Caprin1 |
A |
T |
2: 103,769,506 (GRCm38) |
V608E |
probably damaging |
Het |
| Celsr3 |
T |
A |
9: 108,842,952 (GRCm38) |
C2512* |
probably null |
Het |
| Cfl1 |
A |
T |
19: 5,493,555 (GRCm38) |
R187W |
probably damaging |
Het |
| Cgnl1 |
C |
T |
9: 71,725,944 (GRCm38) |
V42I |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,480,430 (GRCm38) |
Y826H |
probably damaging |
Het |
| Col9a2 |
C |
A |
4: 121,040,974 (GRCm38) |
P28T |
unknown |
Het |
| Cyp3a44 |
G |
A |
5: 145,779,743 (GRCm38) |
P346S |
probably damaging |
Het |
| Dact2 |
A |
G |
17: 14,197,990 (GRCm38) |
V151A |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 112,952,843 (GRCm38) |
I716T |
probably damaging |
Het |
| Entrep1 |
C |
A |
19: 23,975,635 (GRCm38) |
C437F |
probably damaging |
Het |
| Esam |
T |
C |
9: 37,537,621 (GRCm38) |
S342P |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 156,035,598 (GRCm38) |
V1053A |
possibly damaging |
Het |
| Grk3 |
A |
G |
5: 112,966,982 (GRCm38) |
F124S |
probably damaging |
Het |
| H2-DMa |
G |
A |
17: 34,137,399 (GRCm38) |
|
probably null |
Het |
| Hsd3b5 |
T |
A |
3: 98,619,720 (GRCm38) |
I137F |
possibly damaging |
Het |
| Itgav |
A |
T |
2: 83,801,779 (GRCm38) |
I902F |
probably benign |
Het |
| Itsn1 |
G |
T |
16: 91,909,223 (GRCm38) |
C179F |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 52,839,125 (GRCm38) |
R347H |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,489,966 (GRCm38) |
M166T |
possibly damaging |
Het |
| Kmt5c |
C |
T |
7: 4,746,454 (GRCm38) |
Q324* |
probably null |
Het |
| Lcn9 |
G |
A |
2: 25,824,710 (GRCm38) |
E154K |
probably benign |
Het |
| Mfge8 |
A |
T |
7: 79,141,773 (GRCm38) |
L227Q |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,931,043 (GRCm38) |
R753* |
probably null |
Het |
| Mtif2 |
G |
A |
11: 29,540,721 (GRCm38) |
R475Q |
probably benign |
Het |
| Nln |
C |
T |
13: 104,036,947 (GRCm38) |
V584I |
possibly damaging |
Het |
| Nr2e3 |
T |
C |
9: 59,948,767 (GRCm38) |
E129G |
probably benign |
Het |
| Ocstamp |
T |
C |
2: 165,397,516 (GRCm38) |
D250G |
probably damaging |
Het |
| Or1a1 |
A |
T |
11: 74,195,896 (GRCm38) |
H131L |
probably damaging |
Het |
| Or52n4b |
T |
C |
7: 108,545,377 (GRCm38) |
I284T |
possibly damaging |
Het |
| Or8k27 |
A |
C |
2: 86,445,218 (GRCm38) |
L255V |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,071,187 (GRCm38) |
I417L |
probably benign |
Het |
| Polr1a |
A |
T |
6: 71,941,535 (GRCm38) |
K692N |
probably damaging |
Het |
| Qsox2 |
A |
T |
2: 26,220,747 (GRCm38) |
Y152* |
probably null |
Het |
| Rpap1 |
T |
C |
2: 119,783,778 (GRCm38) |
D46G |
possibly damaging |
Het |
| Rpe65 |
A |
G |
3: 159,614,448 (GRCm38) |
T246A |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,562,380 (GRCm38) |
D82G |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,584,974 (GRCm38) |
E669G |
possibly damaging |
Het |
| Serpinb6c |
T |
C |
13: 33,880,226 (GRCm38) |
N282S |
probably benign |
Het |
| Snap47 |
A |
T |
11: 59,428,770 (GRCm38) |
S181T |
probably benign |
Het |
| Snx9 |
A |
C |
17: 5,918,436 (GRCm38) |
T336P |
possibly damaging |
Het |
| Sphkap |
G |
A |
1: 83,277,515 (GRCm38) |
R838* |
probably null |
Het |
| Terb1 |
A |
T |
8: 104,488,491 (GRCm38) |
D284E |
possibly damaging |
Het |
| Tmem266 |
C |
T |
9: 55,418,008 (GRCm38) |
A153V |
probably damaging |
Het |
| Trappc2b |
T |
C |
11: 51,685,678 (GRCm38) |
Q131R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,742,804 (GRCm38) |
E25915G |
possibly damaging |
Het |
| Tubal3 |
A |
G |
13: 3,933,011 (GRCm38) |
T264A |
possibly damaging |
Het |
| Vldlr |
G |
A |
19: 27,245,670 (GRCm38) |
R747Q |
probably benign |
Het |
| Zc3h8 |
G |
T |
2: 128,929,957 (GRCm38) |
|
probably benign |
Het |
| Zfp455 |
T |
C |
13: 67,198,639 (GRCm38) |
F38S |
possibly damaging |
Het |
| Zfp746 |
A |
G |
6: 48,082,174 (GRCm38) |
V167A |
possibly damaging |
Het |
| Zfp985 |
T |
A |
4: 147,584,110 (GRCm38) |
N478K |
probably benign |
Het |
|
| Other mutations in Zfp184 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01674:Zfp184
|
APN |
13 |
21,950,225 (GRCm38) |
splice site |
probably benign |
|
|
R0393:Zfp184
|
UTSW |
13 |
21,947,082 (GRCm38) |
splice site |
probably benign |
|
|
R0636:Zfp184
|
UTSW |
13 |
21,949,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1718:Zfp184
|
UTSW |
13 |
21,959,272 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R4237:Zfp184
|
UTSW |
13 |
21,958,778 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4326:Zfp184
|
UTSW |
13 |
21,959,902 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4327:Zfp184
|
UTSW |
13 |
21,959,902 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4328:Zfp184
|
UTSW |
13 |
21,959,902 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4877:Zfp184
|
UTSW |
13 |
21,960,328 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4941:Zfp184
|
UTSW |
13 |
21,949,721 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5014:Zfp184
|
UTSW |
13 |
21,958,424 (GRCm38) |
missense |
probably benign |
0.37 |
|
R5054:Zfp184
|
UTSW |
13 |
21,959,282 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R5105:Zfp184
|
UTSW |
13 |
21,959,629 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R5216:Zfp184
|
UTSW |
13 |
21,950,236 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5379:Zfp184
|
UTSW |
13 |
21,959,881 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5387:Zfp184
|
UTSW |
13 |
21,949,640 (GRCm38) |
intron |
probably benign |
|
|
R5490:Zfp184
|
UTSW |
13 |
21,958,577 (GRCm38) |
missense |
probably benign |
0.40 |
|
R6220:Zfp184
|
UTSW |
13 |
21,960,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6752:Zfp184
|
UTSW |
13 |
21,959,408 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7088:Zfp184
|
UTSW |
13 |
21,959,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7653:Zfp184
|
UTSW |
13 |
21,959,717 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7980:Zfp184
|
UTSW |
13 |
21,960,206 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8056:Zfp184
|
UTSW |
13 |
21,958,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8214:Zfp184
|
UTSW |
13 |
21,958,825 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8235:Zfp184
|
UTSW |
13 |
21,959,883 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8748:Zfp184
|
UTSW |
13 |
21,960,047 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8891:Zfp184
|
UTSW |
13 |
21,959,342 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9024:Zfp184
|
UTSW |
13 |
21,958,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9082:Zfp184
|
UTSW |
13 |
21,959,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9344:Zfp184
|
UTSW |
13 |
21,960,241 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9436:Zfp184
|
UTSW |
13 |
21,949,728 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9568:Zfp184
|
UTSW |
13 |
21,958,727 (GRCm38) |
missense |
probably benign |
0.25 |
|
R9664:Zfp184
|
UTSW |
13 |
21,959,926 (GRCm38) |
missense |
probably benign |
|
|
R9709:Zfp184
|
UTSW |
13 |
21,959,495 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
X0057:Zfp184
|
UTSW |
13 |
21,959,548 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2014-05-09 |
Incidental Mutation