Incidental Mutation 'R7546:Zfp90'
| ID |
584219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp90
|
| Ensembl Gene |
ENSMUSG00000031907 |
| Gene Name |
zinc finger protein 90 |
| Synonyms |
Nk10 expressed protein, NK10, 6430515L01Rik, Zfp64, KRAB17, Zfp83 |
| MMRRC Submission |
045617-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R7546 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
107141959-107153230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 107151323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 345
(H345Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034382]
[ENSMUST00000212606]
[ENSMUST00000212874]
[ENSMUST00000213045]
|
| AlphaFold |
Q61967 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034382
AA Change: H345Q
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000034382
Gene: ENSMUSG00000031907
AA Change: H345Q
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
4.83e-40 |
SMART |
|
ZnF_C2H2
|
208 |
230 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
250 |
272 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
278 |
300 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
306 |
328 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
334 |
356 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
362 |
384 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
390 |
412 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
446 |
468 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
494 |
516 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
522 |
544 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
550 |
572 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
578 |
600 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
606 |
628 |
2.4e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212606
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212874
AA Change: H345Q
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213045
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the zinc finger protein family that modulates gene expression. The encoded protein derepresses the transcription of certain fetal cardiac genes and may contribute to the genetic reprogramming that occurs during the development of heart failure. Genome wide association studies have identified this gene among ulcerative colitis risk loci. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
G |
17: 48,348,330 (GRCm39) |
S36P |
probably benign |
Het |
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Ampd1 |
A |
G |
3: 103,003,028 (GRCm39) |
T582A |
probably benign |
Het |
| Ank1 |
A |
C |
8: 23,555,011 (GRCm39) |
N57T |
probably damaging |
Het |
| Atxn3 |
A |
G |
12: 101,914,261 (GRCm39) |
|
probably null |
Het |
| Bace2 |
G |
A |
16: 97,200,882 (GRCm39) |
A117T |
probably benign |
Het |
| Bcl2l15 |
A |
G |
3: 103,740,203 (GRCm39) |
N19S |
probably benign |
Het |
| Bid |
C |
A |
6: 120,877,112 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
A |
T |
6: 23,626,607 (GRCm39) |
M227K |
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,135,697 (GRCm39) |
C483Y |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,780,326 (GRCm39) |
T621A |
probably damaging |
Het |
| E2f3 |
G |
A |
13: 30,094,112 (GRCm39) |
S383L |
probably damaging |
Het |
| F2r |
C |
T |
13: 95,754,858 (GRCm39) |
V9I |
probably benign |
Het |
| Gm14226 |
T |
C |
2: 154,867,131 (GRCm39) |
S363P |
probably damaging |
Het |
| Gstm5 |
T |
C |
3: 107,804,610 (GRCm39) |
Y65H |
probably damaging |
Het |
| H2bc13 |
A |
G |
13: 21,900,040 (GRCm39) |
S92P |
probably benign |
Het |
| H60c |
A |
G |
10: 3,209,907 (GRCm39) |
W127R |
probably damaging |
Het |
| Itgav |
G |
T |
2: 83,606,894 (GRCm39) |
G448* |
probably null |
Het |
| Klrh1 |
T |
C |
6: 129,749,343 (GRCm39) |
H84R |
probably benign |
Het |
| Lhx6 |
C |
T |
2: 35,993,357 (GRCm39) |
|
probably null |
Het |
| Manba |
T |
A |
3: 135,276,007 (GRCm39) |
V816D |
probably benign |
Het |
| Marchf10 |
G |
A |
11: 105,280,906 (GRCm39) |
P460S |
not run |
Het |
| Mmp17 |
T |
A |
5: 129,673,653 (GRCm39) |
V244E |
probably damaging |
Het |
| Mtrr |
C |
T |
13: 68,730,268 (GRCm39) |
|
probably benign |
Het |
| Nup160 |
T |
C |
2: 90,515,402 (GRCm39) |
I170T |
probably damaging |
Het |
| Or4c12b |
A |
G |
2: 89,647,363 (GRCm39) |
N225S |
probably benign |
Het |
| Or4c12b |
A |
T |
2: 89,647,538 (GRCm39) |
L283F |
probably damaging |
Het |
| Or51e1 |
T |
C |
7: 102,358,996 (GRCm39) |
S177P |
probably damaging |
Het |
| Pappa |
G |
A |
4: 65,074,352 (GRCm39) |
S302N |
possibly damaging |
Het |
| Plekhj1 |
G |
A |
10: 80,633,748 (GRCm39) |
A53V |
possibly damaging |
Het |
| Pramel46 |
T |
A |
5: 95,418,171 (GRCm39) |
H275L |
possibly damaging |
Het |
| Pramel48 |
C |
T |
5: 95,630,539 (GRCm39) |
R139C |
probably benign |
Het |
| Prpf8 |
T |
C |
11: 75,399,200 (GRCm39) |
V2157A |
probably damaging |
Het |
| Rps8 |
G |
A |
4: 117,011,104 (GRCm39) |
R200W |
probably damaging |
Het |
| Sesn2 |
A |
G |
4: 132,227,154 (GRCm39) |
F93L |
probably damaging |
Het |
| Skic3 |
C |
A |
13: 76,282,954 (GRCm39) |
L759M |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,197,311 (GRCm39) |
S768P |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,137,622 (GRCm39) |
N471S |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,155,621 (GRCm39) |
L758P |
probably benign |
Het |
| Trim35 |
A |
G |
14: 66,540,696 (GRCm39) |
T183A |
probably benign |
Het |
| Ttr |
C |
A |
18: 20,803,102 (GRCm39) |
Y89* |
probably null |
Het |
| Zmym4 |
A |
G |
4: 126,757,961 (GRCm39) |
V1531A |
probably damaging |
Het |
|
| Other mutations in Zfp90 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01753:Zfp90
|
APN |
8 |
107,150,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02170:Zfp90
|
APN |
8 |
107,146,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02818:Zfp90
|
APN |
8 |
107,150,841 (GRCm39) |
missense |
probably benign |
|
|
R0378:Zfp90
|
UTSW |
8 |
107,152,138 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0462:Zfp90
|
UTSW |
8 |
107,151,892 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1555:Zfp90
|
UTSW |
8 |
107,150,727 (GRCm39) |
missense |
probably benign |
|
|
R1869:Zfp90
|
UTSW |
8 |
107,145,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1870:Zfp90
|
UTSW |
8 |
107,145,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2110:Zfp90
|
UTSW |
8 |
107,152,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2112:Zfp90
|
UTSW |
8 |
107,152,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3717:Zfp90
|
UTSW |
8 |
107,150,682 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4506:Zfp90
|
UTSW |
8 |
107,151,496 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5288:Zfp90
|
UTSW |
8 |
107,152,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5691:Zfp90
|
UTSW |
8 |
107,151,710 (GRCm39) |
nonsense |
probably null |
|
|
R5789:Zfp90
|
UTSW |
8 |
107,150,605 (GRCm39) |
missense |
probably benign |
|
|
R6283:Zfp90
|
UTSW |
8 |
107,152,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6560:Zfp90
|
UTSW |
8 |
107,142,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6977:Zfp90
|
UTSW |
8 |
107,151,949 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6977:Zfp90
|
UTSW |
8 |
107,151,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7040:Zfp90
|
UTSW |
8 |
107,151,641 (GRCm39) |
nonsense |
probably null |
|
|
R7196:Zfp90
|
UTSW |
8 |
107,151,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7523:Zfp90
|
UTSW |
8 |
107,150,545 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7535:Zfp90
|
UTSW |
8 |
107,150,900 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7719:Zfp90
|
UTSW |
8 |
107,145,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8036:Zfp90
|
UTSW |
8 |
107,145,760 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8056:Zfp90
|
UTSW |
8 |
107,151,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9370:Zfp90
|
UTSW |
8 |
107,145,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9581:Zfp90
|
UTSW |
8 |
107,151,714 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGAGAACACAGCTCACG -3'
(R):5'- ATGGGCTCTGACCAAATGC -3'
Sequencing Primer
(F):5'- CACCAGAGAATTCACACTGGGG -3'
(R):5'- TGCCCTCCCACAAATGCTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation