Incidental Mutation 'R3918:Zfp51'
| ID |
307520 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp51
|
| Ensembl Gene |
ENSMUSG00000023892 |
| Gene Name |
zinc finger protein 51 |
| Synonyms |
zfec12, Zfp-51 |
| MMRRC Submission |
040816-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
R3918 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
21670636-21685849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21683702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 106
(K106E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039577]
|
| AlphaFold |
Q3U4L8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039577
AA Change: K106E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045684
Gene: ENSMUSG00000023892
AA Change: K106E
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
43 |
103 |
1.71e-22 |
SMART |
|
ZnF_C2H2
|
214 |
236 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
242 |
264 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
270 |
292 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
298 |
320 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
326 |
348 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
354 |
376 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
382 |
404 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
494 |
517 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
523 |
545 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
551 |
573 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
579 |
601 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
607 |
629 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
635 |
657 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
663 |
685 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
691 |
713 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
719 |
741 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
747 |
769 |
6.82e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,766,774 (GRCm39) |
I52T |
probably damaging |
Het |
| Adhfe1 |
G |
A |
1: 9,646,441 (GRCm39) |
R447H |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,676,515 (GRCm39) |
K72E |
probably benign |
Het |
| Best2 |
T |
G |
8: 85,736,353 (GRCm39) |
D270A |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Col18a1 |
T |
C |
10: 76,889,192 (GRCm39) |
M1721V |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,865,000 (GRCm39) |
T39A |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 65,761,800 (GRCm39) |
M3897L |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Egf |
T |
C |
3: 129,490,509 (GRCm39) |
I395V |
probably null |
Het |
| Fbln5 |
C |
T |
12: 101,717,050 (GRCm39) |
G446D |
probably damaging |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
G |
C |
1: 150,566,361 (GRCm39) |
T2214S |
probably benign |
Het |
| Lef1 |
A |
G |
3: 130,905,290 (GRCm39) |
N57S |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,621,190 (GRCm39) |
S266P |
probably benign |
Het |
| Marveld2 |
T |
C |
13: 100,748,401 (GRCm39) |
Q226R |
probably benign |
Het |
| Mest |
G |
A |
6: 30,742,749 (GRCm39) |
S132N |
probably benign |
Het |
| Mras |
T |
A |
9: 99,293,473 (GRCm39) |
I56F |
probably damaging |
Het |
| Myh13 |
G |
A |
11: 67,220,064 (GRCm39) |
E138K |
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,778,799 (GRCm39) |
T516A |
probably damaging |
Het |
| Ola1 |
A |
G |
2: 72,972,683 (GRCm39) |
V200A |
probably benign |
Het |
| Or5ak24 |
A |
T |
2: 85,261,074 (GRCm39) |
V33D |
possibly damaging |
Het |
| Patj |
C |
A |
4: 98,344,455 (GRCm39) |
P20H |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,101 (GRCm39) |
W416R |
probably benign |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Pola1 |
C |
A |
X: 92,505,078 (GRCm39) |
R1313L |
probably benign |
Het |
| Ppp1r36 |
G |
A |
12: 76,464,431 (GRCm39) |
V10I |
probably benign |
Het |
| Rnf150 |
C |
T |
8: 83,591,090 (GRCm39) |
T151I |
probably benign |
Het |
| Tank |
G |
T |
2: 61,474,130 (GRCm39) |
|
probably null |
Het |
| Tmprss4 |
C |
T |
9: 45,091,964 (GRCm39) |
V174M |
probably benign |
Het |
| Trappc13 |
T |
C |
13: 104,297,590 (GRCm39) |
T105A |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,929,838 (GRCm39) |
S1066P |
probably damaging |
Het |
| Txndc9 |
G |
A |
1: 38,033,131 (GRCm39) |
Q84* |
probably null |
Het |
| Ubr3 |
A |
T |
2: 69,846,474 (GRCm39) |
|
probably null |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
|
| Other mutations in Zfp51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Zfp51
|
APN |
17 |
21,683,714 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL00971:Zfp51
|
APN |
17 |
21,683,844 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02002:Zfp51
|
APN |
17 |
21,684,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02268:Zfp51
|
APN |
17 |
21,683,681 (GRCm39) |
nonsense |
probably null |
|
|
IGL03249:Zfp51
|
APN |
17 |
21,683,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1569:Zfp51
|
UTSW |
17 |
21,676,642 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1853:Zfp51
|
UTSW |
17 |
21,684,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1989:Zfp51
|
UTSW |
17 |
21,676,582 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2285:Zfp51
|
UTSW |
17 |
21,684,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2407:Zfp51
|
UTSW |
17 |
21,684,093 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2890:Zfp51
|
UTSW |
17 |
21,684,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4529:Zfp51
|
UTSW |
17 |
21,684,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4587:Zfp51
|
UTSW |
17 |
21,685,178 (GRCm39) |
nonsense |
probably null |
|
|
R4866:Zfp51
|
UTSW |
17 |
21,682,012 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4872:Zfp51
|
UTSW |
17 |
21,684,933 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4961:Zfp51
|
UTSW |
17 |
21,676,615 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5392:Zfp51
|
UTSW |
17 |
21,685,584 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5611:Zfp51
|
UTSW |
17 |
21,684,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7109:Zfp51
|
UTSW |
17 |
21,683,831 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7129:Zfp51
|
UTSW |
17 |
21,681,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7269:Zfp51
|
UTSW |
17 |
21,683,960 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7303:Zfp51
|
UTSW |
17 |
21,684,058 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7514:Zfp51
|
UTSW |
17 |
21,683,762 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7665:Zfp51
|
UTSW |
17 |
21,683,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8073:Zfp51
|
UTSW |
17 |
21,684,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Zfp51
|
UTSW |
17 |
21,684,129 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8560:Zfp51
|
UTSW |
17 |
21,685,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8877:Zfp51
|
UTSW |
17 |
21,682,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9032:Zfp51
|
UTSW |
17 |
21,684,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9085:Zfp51
|
UTSW |
17 |
21,684,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9307:Zfp51
|
UTSW |
17 |
21,684,733 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9489:Zfp51
|
UTSW |
17 |
21,684,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9605:Zfp51
|
UTSW |
17 |
21,684,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9686:Zfp51
|
UTSW |
17 |
21,683,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9735:Zfp51
|
UTSW |
17 |
21,685,413 (GRCm39) |
nonsense |
probably null |
|
|
R9795:Zfp51
|
UTSW |
17 |
21,682,051 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0062:Zfp51
|
UTSW |
17 |
21,685,257 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCCTTGAAAGCTGTCAGG -3'
(R):5'- ACTCACAAGGTTCTTCTCCAG -3'
Sequencing Primer
(F):5'- CCCTTGAAAGCTGTCAGGATATG -3'
(R):5'- ACAAGGTTCTTCTCCAGTATGCG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation