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 |
4930500C15Rik |
MMRRC Submission |
039693-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R1657 (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 22143443 bp (GRCm39)
|
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: 84,154,910 (GRCm39) |
D988E |
probably benign |
Het |
Als2 |
A |
G |
1: 59,219,760 (GRCm39) |
V1185A |
probably damaging |
Het |
Amdhd2 |
A |
G |
17: 24,375,029 (GRCm39) |
V391A |
probably damaging |
Het |
Armh4 |
G |
C |
14: 50,011,017 (GRCm39) |
T230S |
probably damaging |
Het |
Caprin1 |
A |
T |
2: 103,599,851 (GRCm39) |
V608E |
probably damaging |
Het |
Celsr3 |
T |
A |
9: 108,720,151 (GRCm39) |
C2512* |
probably null |
Het |
Cfl1 |
A |
T |
19: 5,543,583 (GRCm39) |
R187W |
probably damaging |
Het |
Cgnl1 |
C |
T |
9: 71,633,226 (GRCm39) |
V42I |
probably damaging |
Het |
Chd2 |
A |
G |
7: 73,130,178 (GRCm39) |
Y826H |
probably damaging |
Het |
Col9a2 |
C |
A |
4: 120,898,171 (GRCm39) |
P28T |
unknown |
Het |
Cyp3a44 |
G |
A |
5: 145,716,553 (GRCm39) |
P346S |
probably damaging |
Het |
Dact2 |
A |
G |
17: 14,418,252 (GRCm39) |
V151A |
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,089,377 (GRCm39) |
I716T |
probably damaging |
Het |
Entrep1 |
C |
A |
19: 23,952,999 (GRCm39) |
C437F |
probably damaging |
Het |
Esam |
T |
C |
9: 37,448,917 (GRCm39) |
S342P |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,877,518 (GRCm39) |
V1053A |
possibly damaging |
Het |
Grk3 |
A |
G |
5: 113,114,848 (GRCm39) |
F124S |
probably damaging |
Het |
H2-DMa |
G |
A |
17: 34,356,373 (GRCm39) |
|
probably null |
Het |
Hsd3b5 |
T |
A |
3: 98,527,036 (GRCm39) |
I137F |
possibly damaging |
Het |
Itgav |
A |
T |
2: 83,632,123 (GRCm39) |
I902F |
probably benign |
Het |
Itsn1 |
G |
T |
16: 91,706,111 (GRCm39) |
C179F |
probably damaging |
Het |
Kcnh8 |
G |
A |
17: 53,146,153 (GRCm39) |
R347H |
probably damaging |
Het |
Kif9 |
T |
C |
9: 110,319,034 (GRCm39) |
M166T |
possibly damaging |
Het |
Kmt5c |
C |
T |
7: 4,749,453 (GRCm39) |
Q324* |
probably null |
Het |
Lcn9 |
G |
A |
2: 25,714,722 (GRCm39) |
E154K |
probably benign |
Het |
Mfge8 |
A |
T |
7: 78,791,521 (GRCm39) |
L227Q |
probably benign |
Het |
Mroh2b |
A |
T |
15: 4,960,525 (GRCm39) |
R753* |
probably null |
Het |
Mtif2 |
G |
A |
11: 29,490,721 (GRCm39) |
R475Q |
probably benign |
Het |
Nln |
C |
T |
13: 104,173,455 (GRCm39) |
V584I |
possibly damaging |
Het |
Nr2e3 |
T |
C |
9: 59,856,050 (GRCm39) |
E129G |
probably benign |
Het |
Ocstamp |
T |
C |
2: 165,239,436 (GRCm39) |
D250G |
probably damaging |
Het |
Or1a1 |
A |
T |
11: 74,086,722 (GRCm39) |
H131L |
probably damaging |
Het |
Or52n4b |
T |
C |
7: 108,144,584 (GRCm39) |
I284T |
possibly damaging |
Het |
Or8k27 |
A |
C |
2: 86,275,562 (GRCm39) |
L255V |
probably damaging |
Het |
Pld1 |
A |
T |
3: 28,125,336 (GRCm39) |
I417L |
probably benign |
Het |
Polr1a |
A |
T |
6: 71,918,519 (GRCm39) |
K692N |
probably damaging |
Het |
Qsox2 |
A |
T |
2: 26,110,759 (GRCm39) |
Y152* |
probably null |
Het |
Rpap1 |
T |
C |
2: 119,614,259 (GRCm39) |
D46G |
possibly damaging |
Het |
Rpe65 |
A |
G |
3: 159,320,085 (GRCm39) |
T246A |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,391,446 (GRCm39) |
D82G |
probably damaging |
Het |
Sema3d |
A |
G |
5: 12,634,941 (GRCm39) |
E669G |
possibly damaging |
Het |
Serpinb6c |
T |
C |
13: 34,064,209 (GRCm39) |
N282S |
probably benign |
Het |
Snap47 |
A |
T |
11: 59,319,596 (GRCm39) |
S181T |
probably benign |
Het |
Snx9 |
A |
C |
17: 5,968,711 (GRCm39) |
T336P |
possibly damaging |
Het |
Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
Terb1 |
A |
T |
8: 105,215,123 (GRCm39) |
D284E |
possibly damaging |
Het |
Tmem266 |
C |
T |
9: 55,325,292 (GRCm39) |
A153V |
probably damaging |
Het |
Trappc2b |
T |
C |
11: 51,576,505 (GRCm39) |
Q131R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,573,148 (GRCm39) |
E25915G |
possibly damaging |
Het |
Tubal3 |
A |
G |
13: 3,983,011 (GRCm39) |
T264A |
possibly damaging |
Het |
Vldlr |
G |
A |
19: 27,223,070 (GRCm39) |
R747Q |
probably benign |
Het |
Zc3h8 |
G |
T |
2: 128,771,877 (GRCm39) |
|
probably benign |
Het |
Zfp455 |
T |
C |
13: 67,346,703 (GRCm39) |
F38S |
possibly damaging |
Het |
Zfp746 |
A |
G |
6: 48,059,108 (GRCm39) |
V167A |
possibly damaging |
Het |
Zfp985 |
T |
A |
4: 147,668,567 (GRCm39) |
N478K |
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 |
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 |
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 |
|
Posted On |
2014-05-09 |