Incidental Mutation 'R0378:Zfp90'
| ID |
36473 |
| 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 |
038584-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R0378 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
107141959-107153230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107152138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 617
(R617Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034382]
[ENSMUST00000212606]
[ENSMUST00000212874]
[ENSMUST00000213045]
|
| AlphaFold |
Q61967 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034382
AA Change: R617Q
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000034382
Gene: ENSMUSG00000031907
AA Change: R617Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000180410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211958
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212606
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212866
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212874
AA Change: R617Q
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213045
|
| Meta Mutation Damage Score |
0.0818 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
95% (40/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
C |
A |
8: 114,469,749 (GRCm39) |
R651L |
probably damaging |
Het |
| Amd1 |
T |
C |
10: 40,165,380 (GRCm39) |
D317G |
possibly damaging |
Het |
| Artn |
A |
G |
4: 117,784,815 (GRCm39) |
|
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,471,604 (GRCm39) |
V988E |
probably benign |
Het |
| Cyp2c65 |
G |
T |
19: 39,061,662 (GRCm39) |
C216F |
probably benign |
Het |
| Cyp3a11 |
T |
C |
5: 145,805,417 (GRCm39) |
E200G |
probably benign |
Het |
| Cyp3a25 |
T |
A |
5: 145,923,652 (GRCm39) |
K330N |
probably damaging |
Het |
| Duox2 |
C |
A |
2: 122,115,064 (GRCm39) |
V1138L |
probably benign |
Het |
| Erc2 |
A |
G |
14: 27,733,651 (GRCm39) |
D567G |
probably damaging |
Het |
| Eri2 |
A |
G |
7: 119,393,139 (GRCm39) |
|
probably null |
Het |
| Foxa3 |
A |
G |
7: 18,757,294 (GRCm39) |
Y17H |
probably damaging |
Het |
| Fto |
T |
C |
8: 92,200,940 (GRCm39) |
S324P |
probably damaging |
Het |
| Get3 |
A |
T |
8: 85,751,893 (GRCm39) |
M1K |
probably null |
Het |
| Gls2 |
T |
G |
10: 128,043,180 (GRCm39) |
L457R |
probably benign |
Het |
| Gstcd |
A |
T |
3: 132,692,169 (GRCm39) |
L582H |
probably damaging |
Het |
| Gtf3c1 |
G |
A |
7: 125,246,786 (GRCm39) |
R1508* |
probably null |
Het |
| Kif21a |
T |
C |
15: 90,853,977 (GRCm39) |
|
probably null |
Het |
| Klra5 |
A |
T |
6: 129,883,577 (GRCm39) |
D93E |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,290,404 (GRCm39) |
D456G |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,483,305 (GRCm39) |
S186P |
probably damaging |
Het |
| Msr1 |
T |
C |
8: 40,042,423 (GRCm39) |
D384G |
possibly damaging |
Het |
| Ncf4 |
T |
C |
15: 78,137,503 (GRCm39) |
V93A |
probably damaging |
Het |
| Oas1f |
T |
G |
5: 120,994,489 (GRCm39) |
C337G |
probably damaging |
Het |
| Or10al3 |
A |
G |
17: 38,011,932 (GRCm39) |
M124V |
probably damaging |
Het |
| Or5p58 |
A |
T |
7: 107,694,429 (GRCm39) |
F116Y |
probably benign |
Het |
| Or6c33 |
T |
A |
10: 129,853,872 (GRCm39) |
L214H |
probably damaging |
Het |
| Pwwp3a |
C |
A |
10: 80,074,713 (GRCm39) |
|
probably null |
Het |
| Rasl10b |
T |
C |
11: 83,309,519 (GRCm39) |
S159P |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Smg8 |
C |
A |
11: 86,971,249 (GRCm39) |
D841Y |
probably damaging |
Het |
| Sox7 |
T |
C |
14: 64,181,398 (GRCm39) |
V65A |
probably damaging |
Het |
| Sp140 |
C |
T |
1: 85,547,772 (GRCm39) |
|
probably benign |
Het |
| Srsf10 |
A |
G |
4: 135,590,501 (GRCm39) |
Y142C |
possibly damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tcerg1l |
A |
G |
7: 137,878,384 (GRCm39) |
V326A |
probably benign |
Het |
| Tcl1b5 |
T |
A |
12: 105,145,326 (GRCm39) |
W97R |
probably damaging |
Het |
| Tmem108 |
T |
C |
9: 103,376,856 (GRCm39) |
R198G |
possibly damaging |
Het |
| Ube2ql1 |
T |
A |
13: 69,887,017 (GRCm39) |
Q148L |
possibly damaging |
Het |
| Vmn1r5 |
A |
T |
6: 56,962,570 (GRCm39) |
I82L |
probably benign |
Het |
| Wdr6 |
A |
T |
9: 108,453,063 (GRCm39) |
S273R |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,043,850 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
R7546:Zfp90
|
UTSW |
8 |
107,151,323 (GRCm39) |
missense |
probably benign |
0.22 |
|
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'- ACGGCTCTGAACAGACCCTTCTTG -3'
(R):5'- GCTGTTAAAACTTGGTGACTCTGCAC -3'
Sequencing Primer
(F):5'- tgaatgtaatgagtgtggggaag -3'
(R):5'- GTACGTAGTTCTACAAGAAGCCTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation