Incidental Mutation 'R6752:Zfp184'
| ID |
530848 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp184
|
| Ensembl Gene |
ENSMUSG00000006720 |
| Gene Name |
zinc finger protein 184 (Kruppel-like) |
| Synonyms |
4930500C15Rik |
| MMRRC Submission |
044869-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R6752 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
22129264-22144949 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 22143578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 428
(A428E)
|
| 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: A428E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000006903
Gene: ENSMUSG00000006720
AA Change: A428E
| 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: A428E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100043
Gene: ENSMUSG00000006720
AA Change: A428E
| 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: A428E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135173
Gene: ENSMUSG00000006720
AA Change: A428E
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (55/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
C |
11: 84,086,309 (GRCm39) |
L45S |
probably benign |
Het |
| Agbl2 |
G |
A |
2: 90,633,418 (GRCm39) |
C518Y |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Aox1 |
T |
C |
1: 58,086,398 (GRCm39) |
I101T |
probably benign |
Het |
| Arhgap23 |
T |
C |
11: 97,343,074 (GRCm39) |
F241S |
probably damaging |
Het |
| Asmt |
A |
G |
X: 169,110,096 (GRCm39) |
M202V |
probably benign |
Het |
| Atp6v0a2 |
A |
G |
5: 124,779,452 (GRCm39) |
E189G |
probably damaging |
Het |
| Birc2 |
G |
A |
9: 7,857,345 (GRCm39) |
A376V |
probably benign |
Het |
| Ccbe1 |
C |
T |
18: 66,209,378 (GRCm39) |
|
probably null |
Het |
| Chst2 |
C |
A |
9: 95,286,802 (GRCm39) |
E515* |
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,540,706 (GRCm39) |
N2426K |
possibly damaging |
Het |
| Dmrt2 |
A |
G |
19: 25,655,706 (GRCm39) |
N435S |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,421,017 (GRCm39) |
K123E |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,870,616 (GRCm39) |
L1452Q |
probably damaging |
Het |
| Galnt7 |
G |
A |
8: 58,105,985 (GRCm39) |
R10C |
probably damaging |
Het |
| Gm16506 |
A |
G |
14: 43,964,876 (GRCm39) |
I22T |
unknown |
Het |
| H2-Q6 |
A |
G |
17: 35,647,103 (GRCm39) |
T292A |
probably damaging |
Het |
| Ifne |
A |
G |
4: 88,798,319 (GRCm39) |
M33T |
probably benign |
Het |
| Igf2r |
G |
A |
17: 12,933,831 (GRCm39) |
R808W |
probably damaging |
Het |
| Igfbp5 |
T |
C |
1: 72,903,068 (GRCm39) |
E169G |
probably damaging |
Het |
| Inppl1 |
G |
A |
7: 101,481,749 (GRCm39) |
R198* |
probably null |
Het |
| Irgm1 |
T |
C |
11: 48,757,290 (GRCm39) |
T174A |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,645,446 (GRCm39) |
G21S |
possibly damaging |
Het |
| Klra4 |
G |
T |
6: 130,038,991 (GRCm39) |
Q134K |
probably benign |
Het |
| Mfsd1 |
T |
A |
3: 67,503,936 (GRCm39) |
Y309* |
probably null |
Het |
| Mrps10 |
A |
G |
17: 47,688,740 (GRCm39) |
N162S |
probably damaging |
Het |
| Mtmr14 |
T |
C |
6: 113,217,358 (GRCm39) |
F90S |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 49,003,290 (GRCm39) |
D1783G |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,119,856 (GRCm39) |
E972G |
probably damaging |
Het |
| Myt1 |
G |
T |
2: 181,442,875 (GRCm39) |
V455F |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,944,640 (GRCm39) |
S575T |
probably benign |
Het |
| Nbea |
T |
A |
3: 55,875,730 (GRCm39) |
T1647S |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,570,037 (GRCm39) |
N466S |
probably benign |
Het |
| Or10ag52 |
A |
G |
2: 87,043,388 (GRCm39) |
M51V |
probably benign |
Het |
| Or5b114-ps1 |
T |
A |
19: 13,352,890 (GRCm39) |
L188H |
unknown |
Het |
| Or5h27 |
T |
A |
16: 59,006,694 (GRCm39) |
N51Y |
probably damaging |
Het |
| Pcdhgb4 |
T |
A |
18: 37,853,704 (GRCm39) |
I33N |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Pom121l2 |
T |
G |
13: 22,165,939 (GRCm39) |
F70C |
probably damaging |
Het |
| Psmb5 |
T |
C |
14: 54,854,212 (GRCm39) |
T89A |
probably benign |
Het |
| Rab11fip2 |
T |
C |
19: 59,895,475 (GRCm39) |
D471G |
probably damaging |
Het |
| Rnh1 |
A |
G |
7: 140,743,354 (GRCm39) |
V207A |
probably benign |
Het |
| Sh3tc2 |
C |
A |
18: 62,094,108 (GRCm39) |
T49N |
probably benign |
Het |
| Skint4 |
T |
C |
4: 111,977,060 (GRCm39) |
M158T |
possibly damaging |
Het |
| Skint7 |
T |
A |
4: 111,837,463 (GRCm39) |
H80Q |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,762,539 (GRCm39) |
|
probably benign |
Het |
| Sostdc1 |
T |
C |
12: 36,364,411 (GRCm39) |
V40A |
probably benign |
Het |
| Sptlc1 |
C |
A |
13: 53,489,394 (GRCm39) |
K437N |
possibly damaging |
Het |
| Stat2 |
T |
C |
10: 128,119,622 (GRCm39) |
F503L |
probably damaging |
Het |
| Syt16 |
A |
T |
12: 74,275,987 (GRCm39) |
|
probably null |
Het |
| Tspyl1 |
T |
C |
10: 34,158,583 (GRCm39) |
S103P |
probably benign |
Het |
| Ube4a |
A |
T |
9: 44,837,246 (GRCm39) |
S1053R |
probably damaging |
Het |
| Vipr1 |
A |
G |
9: 121,482,959 (GRCm39) |
N58S |
probably damaging |
Het |
| Zfp292 |
A |
C |
4: 34,808,593 (GRCm39) |
F1484V |
possibly damaging |
Het |
| Zfp599 |
G |
A |
9: 22,160,840 (GRCm39) |
H442Y |
probably damaging |
Het |
| Zfp944 |
G |
A |
17: 22,558,500 (GRCm39) |
T249I |
probably benign |
Het |
| Zkscan14 |
T |
A |
5: 145,132,316 (GRCm39) |
H405L |
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 |
|
|
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 |
|
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'- GTGATGAATGTGGGAAGGCC -3'
(R):5'- CACACTCACTGCACTCAAAGGG -3'
Sequencing Primer
(F):5'- AGGTCACTTTATGGAGCACC -3'
(R):5'- ACTCAAAGGGCTTCTCTCGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation