Incidental Mutation 'R8359:Zfp180'
| ID |
645915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp180
|
| Ensembl Gene |
ENSMUSG00000057101 |
| Gene Name |
zinc finger protein 180 |
| Synonyms |
HHZ168, D130011P11, 2310040I01Rik |
| MMRRC Submission |
067872-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.582)
|
| Stock # |
R8359 (G1)
|
| Quality Score |
190.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23781349-23807138 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23804337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 252
(A252V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068975]
[ENSMUST00000203854]
[ENSMUST00000206184]
[ENSMUST00000207002]
|
| AlphaFold |
Q6NZI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068975
AA Change: A252V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000064611
Gene: ENSMUSG00000057101
AA Change: A252V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KRAB
|
46 |
103 |
7e-14 |
BLAST |
|
ZnF_C2H2
|
318 |
340 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
346 |
368 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
374 |
396 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
402 |
424 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
430 |
452 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
458 |
480 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
486 |
508 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
514 |
536 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
542 |
564 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
570 |
592 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
598 |
620 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
626 |
648 |
4.11e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203854
|
| SMART Domains |
Protein: ENSMUSP00000145165
Gene: ENSMUSG00000057101
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KRAB
|
12 |
69 |
4e-14 |
BLAST |
|
ZnF_C2H2
|
284 |
306 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
312 |
334 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
340 |
362 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
368 |
390 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
396 |
418 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
424 |
446 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
452 |
474 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
480 |
502 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
508 |
530 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
536 |
558 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
564 |
586 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
592 |
614 |
4.11e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206184
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207002
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
T |
8: 25,296,502 (GRCm39) |
V315D |
probably damaging |
Het |
| Adgrf1 |
A |
T |
17: 43,621,286 (GRCm39) |
I508F |
probably damaging |
Het |
| Atpaf2 |
T |
C |
11: 60,298,129 (GRCm39) |
D147G |
probably damaging |
Het |
| Brwd1 |
T |
C |
16: 95,817,409 (GRCm39) |
T1368A |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 136,043,799 (GRCm39) |
E1626V |
probably benign |
Het |
| Carm1 |
G |
A |
9: 21,480,765 (GRCm39) |
V80I |
possibly damaging |
Het |
| Cenpw |
T |
A |
10: 30,074,484 (GRCm39) |
D71V |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,122,603 (GRCm39) |
|
probably null |
Het |
| Ckmt1 |
A |
T |
2: 121,193,531 (GRCm39) |
T364S |
probably benign |
Het |
| Col6a4 |
T |
C |
9: 105,945,583 (GRCm39) |
S844G |
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,868,538 (GRCm39) |
E1380G |
probably benign |
Het |
| Cyp21a1 |
A |
G |
17: 35,021,105 (GRCm39) |
|
probably null |
Het |
| Dhodh |
A |
C |
8: 110,333,038 (GRCm39) |
D12E |
probably benign |
Het |
| Dnali1 |
T |
A |
4: 124,957,460 (GRCm39) |
T95S |
probably damaging |
Het |
| Dynlrb1 |
A |
G |
2: 155,091,870 (GRCm39) |
N93D |
probably benign |
Het |
| Edem1 |
C |
T |
6: 108,823,774 (GRCm39) |
A390V |
probably benign |
Het |
| Enthd1 |
T |
C |
15: 80,358,356 (GRCm39) |
D388G |
probably benign |
Het |
| Fam170a |
A |
G |
18: 50,414,677 (GRCm39) |
T108A |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,233,276 (GRCm39) |
S1531P |
probably benign |
Het |
| Golm2 |
A |
T |
2: 121,697,632 (GRCm39) |
|
probably benign |
Het |
| Hspbap1 |
C |
A |
16: 35,645,366 (GRCm39) |
N350K |
probably benign |
Het |
| Htr3b |
A |
C |
9: 48,858,596 (GRCm39) |
S94R |
probably damaging |
Het |
| Ide |
A |
T |
19: 37,307,886 (GRCm39) |
V42E |
|
Het |
| Igf2r |
A |
G |
17: 12,902,748 (GRCm39) |
V2434A |
probably benign |
Het |
| Katnip |
T |
C |
7: 125,468,023 (GRCm39) |
|
probably null |
Het |
| Kif16b |
G |
A |
2: 142,553,777 (GRCm39) |
A1007V |
probably benign |
Het |
| Mccc1 |
C |
T |
3: 36,018,493 (GRCm39) |
V614I |
probably benign |
Het |
| Mos |
A |
G |
4: 3,871,097 (GRCm39) |
Y240H |
probably damaging |
Het |
| Myh11 |
C |
T |
16: 14,026,095 (GRCm39) |
|
probably null |
Het |
| Nexn |
T |
A |
3: 151,953,998 (GRCm39) |
D166V |
probably damaging |
Het |
| Or10h1b |
G |
A |
17: 33,395,895 (GRCm39) |
C173Y |
probably damaging |
Het |
| Or2t47 |
G |
T |
11: 58,443,029 (GRCm39) |
T12N |
probably benign |
Het |
| Or4p4 |
A |
T |
2: 88,483,332 (GRCm39) |
M279L |
probably benign |
Het |
| Or5p81 |
T |
A |
7: 108,267,518 (GRCm39) |
N298K |
probably benign |
Het |
| Pkp4 |
A |
G |
2: 59,180,895 (GRCm39) |
Y1061C |
probably damaging |
Het |
| Pla2g6 |
T |
C |
15: 79,171,370 (GRCm39) |
D740G |
probably damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,273,627 (GRCm39) |
I920L |
probably benign |
Het |
| Plekha2 |
A |
G |
8: 25,578,407 (GRCm39) |
I31T |
probably damaging |
Het |
| Ppp1r16b |
G |
T |
2: 158,603,295 (GRCm39) |
V407L |
probably benign |
Het |
| Prss50 |
A |
G |
9: 110,691,370 (GRCm39) |
I225V |
probably damaging |
Het |
| Rmdn2 |
A |
T |
17: 79,935,580 (GRCm39) |
E231V |
|
Het |
| Sema3c |
T |
C |
5: 17,858,726 (GRCm39) |
S42P |
possibly damaging |
Het |
| Sh2d1b1 |
T |
A |
1: 170,110,693 (GRCm39) |
|
probably null |
Het |
| Slc22a20 |
T |
C |
19: 6,021,554 (GRCm39) |
I483V |
probably benign |
Het |
| Slc30a2 |
T |
C |
4: 134,076,690 (GRCm39) |
V275A |
probably damaging |
Het |
| Slc6a3 |
T |
A |
13: 73,693,002 (GRCm39) |
F207L |
probably benign |
Het |
| Slc9a1 |
A |
T |
4: 133,147,927 (GRCm39) |
Q648H |
probably damaging |
Het |
| Slpi |
A |
T |
2: 164,197,975 (GRCm39) |
M1K |
probably null |
Het |
| Smc5 |
A |
C |
19: 23,211,443 (GRCm39) |
S564A |
possibly damaging |
Het |
| Smchd1 |
A |
T |
17: 71,738,238 (GRCm39) |
F542L |
probably damaging |
Het |
| Sycp1 |
T |
A |
3: 102,727,909 (GRCm39) |
K901N |
probably damaging |
Het |
| Synpo2l |
T |
A |
14: 20,716,208 (GRCm39) |
T126S |
probably benign |
Het |
| Upp2 |
A |
G |
2: 58,667,955 (GRCm39) |
N216S |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,969,408 (GRCm39) |
D349G |
probably damaging |
Het |
| Zfr2 |
C |
T |
10: 81,078,653 (GRCm39) |
T295I |
possibly damaging |
Het |
| Zkscan16 |
C |
T |
4: 58,957,230 (GRCm39) |
T504I |
possibly damaging |
Het |
|
| Other mutations in Zfp180 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Zfp180
|
APN |
7 |
23,784,894 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00990:Zfp180
|
APN |
7 |
23,803,841 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL00990:Zfp180
|
APN |
7 |
23,804,255 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL00990:Zfp180
|
APN |
7 |
23,804,420 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL01061:Zfp180
|
APN |
7 |
23,804,170 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01328:Zfp180
|
APN |
7 |
23,800,904 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03134:Zfp180
|
UTSW |
7 |
23,804,170 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0137:Zfp180
|
UTSW |
7 |
23,805,158 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0390:Zfp180
|
UTSW |
7 |
23,804,132 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1451:Zfp180
|
UTSW |
7 |
23,804,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1534:Zfp180
|
UTSW |
7 |
23,800,948 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1555:Zfp180
|
UTSW |
7 |
23,800,999 (GRCm39) |
intron |
probably benign |
|
|
R1577:Zfp180
|
UTSW |
7 |
23,805,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1605:Zfp180
|
UTSW |
7 |
23,804,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1633:Zfp180
|
UTSW |
7 |
23,804,226 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1817:Zfp180
|
UTSW |
7 |
23,804,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2012:Zfp180
|
UTSW |
7 |
23,803,943 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2076:Zfp180
|
UTSW |
7 |
23,804,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2151:Zfp180
|
UTSW |
7 |
23,804,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2262:Zfp180
|
UTSW |
7 |
23,804,049 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3081:Zfp180
|
UTSW |
7 |
23,804,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3402:Zfp180
|
UTSW |
7 |
23,805,170 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4551:Zfp180
|
UTSW |
7 |
23,803,998 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4747:Zfp180
|
UTSW |
7 |
23,805,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4983:Zfp180
|
UTSW |
7 |
23,805,503 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5610:Zfp180
|
UTSW |
7 |
23,804,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5764:Zfp180
|
UTSW |
7 |
23,800,909 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5987:Zfp180
|
UTSW |
7 |
23,804,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6207:Zfp180
|
UTSW |
7 |
23,804,510 (GRCm39) |
nonsense |
probably null |
|
|
R6247:Zfp180
|
UTSW |
7 |
23,804,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6328:Zfp180
|
UTSW |
7 |
23,804,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6708:Zfp180
|
UTSW |
7 |
23,805,521 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6814:Zfp180
|
UTSW |
7 |
23,805,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6872:Zfp180
|
UTSW |
7 |
23,805,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7006:Zfp180
|
UTSW |
7 |
23,804,537 (GRCm39) |
nonsense |
probably null |
|
|
R7084:Zfp180
|
UTSW |
7 |
23,804,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7101:Zfp180
|
UTSW |
7 |
23,803,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7213:Zfp180
|
UTSW |
7 |
23,803,938 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7263:Zfp180
|
UTSW |
7 |
23,805,125 (GRCm39) |
nonsense |
probably null |
|
|
R7360:Zfp180
|
UTSW |
7 |
23,804,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7487:Zfp180
|
UTSW |
7 |
23,805,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7766:Zfp180
|
UTSW |
7 |
23,804,084 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7816:Zfp180
|
UTSW |
7 |
23,804,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8086:Zfp180
|
UTSW |
7 |
23,805,535 (GRCm39) |
missense |
probably benign |
|
|
R8747:Zfp180
|
UTSW |
7 |
23,804,687 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8768:Zfp180
|
UTSW |
7 |
23,805,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8967:Zfp180
|
UTSW |
7 |
23,804,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9045:Zfp180
|
UTSW |
7 |
23,804,315 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9460:Zfp180
|
UTSW |
7 |
23,804,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9480:Zfp180
|
UTSW |
7 |
23,804,628 (GRCm39) |
missense |
probably benign |
0.20 |
|
V5622:Zfp180
|
UTSW |
7 |
23,781,456 (GRCm39) |
start gained |
probably benign |
|
|
X0067:Zfp180
|
UTSW |
7 |
23,804,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zfp180
|
UTSW |
7 |
23,805,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATTTCCATAAACAGGCGTC -3'
(R):5'- CTCAGAGTAGTTTCTCAGGCTCTG -3'
Sequencing Primer
(F):5'- CAGGCGTCACATGTTAAAAAGTTGC -3'
(R):5'- TCTGAGGAAGAGACGGACTTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation