Incidental Mutation 'IGL00420:Zfp51'
ID |
3917 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp51
|
Ensembl Gene |
ENSMUSG00000023892 |
Gene Name |
zinc finger protein 51 |
Synonyms |
zfec12, Zfp-51 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.390)
|
Stock # |
IGL00420
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
21670636-21685849 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 21683714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 110
(M110L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045684
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039577]
|
AlphaFold |
Q3U4L8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039577
AA Change: M110L
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000045684 Gene: ENSMUSG00000023892 AA Change: M110L
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adtrp |
A |
T |
13: 41,931,078 (GRCm39) |
S170T |
probably benign |
Het |
Cep55 |
C |
A |
19: 38,061,887 (GRCm39) |
Q443K |
probably damaging |
Het |
Ces1c |
T |
C |
8: 93,833,301 (GRCm39) |
E388G |
probably benign |
Het |
Chd9 |
T |
C |
8: 91,752,020 (GRCm39) |
S1753P |
possibly damaging |
Het |
Cse1l |
T |
A |
2: 166,769,724 (GRCm39) |
I343N |
probably damaging |
Het |
Ctif |
T |
G |
18: 75,570,247 (GRCm39) |
M551L |
possibly damaging |
Het |
Cyp2c29 |
A |
G |
19: 39,310,143 (GRCm39) |
|
probably benign |
Het |
Filip1 |
G |
A |
9: 79,725,226 (GRCm39) |
T1131I |
probably damaging |
Het |
Gm13941 |
G |
A |
2: 110,922,193 (GRCm39) |
|
probably benign |
Het |
Klc3 |
T |
C |
7: 19,130,220 (GRCm39) |
E319G |
possibly damaging |
Het |
Lonrf1 |
T |
C |
8: 36,697,231 (GRCm39) |
|
probably benign |
Het |
Lrba |
A |
G |
3: 86,267,089 (GRCm39) |
E1593G |
probably benign |
Het |
Mroh5 |
G |
A |
15: 73,664,638 (GRCm39) |
|
probably benign |
Het |
Mthfr |
T |
A |
4: 148,125,727 (GRCm39) |
M20K |
probably benign |
Het |
Nsd2 |
C |
A |
5: 34,040,347 (GRCm39) |
N960K |
possibly damaging |
Het |
Osgin1 |
T |
A |
8: 120,171,785 (GRCm39) |
V193E |
probably damaging |
Het |
Pced1a |
A |
T |
2: 130,261,098 (GRCm39) |
C420S |
probably benign |
Het |
Pkd2l1 |
C |
T |
19: 44,146,075 (GRCm39) |
|
probably null |
Het |
Plekhg5 |
C |
A |
4: 152,186,498 (GRCm39) |
|
probably null |
Het |
Prkg2 |
A |
G |
5: 99,172,400 (GRCm39) |
V105A |
probably benign |
Het |
Rab11fip3 |
A |
G |
17: 26,286,599 (GRCm39) |
I518T |
probably benign |
Het |
Rapgef5 |
T |
A |
12: 117,677,917 (GRCm39) |
V150D |
probably damaging |
Het |
Sema4c |
A |
G |
1: 36,593,001 (GRCm39) |
|
probably benign |
Het |
Slc27a2 |
A |
G |
2: 126,422,837 (GRCm39) |
E354G |
probably damaging |
Het |
Slc28a3 |
A |
T |
13: 58,722,114 (GRCm39) |
L257I |
probably benign |
Het |
Slc2a8 |
G |
T |
2: 32,863,636 (GRCm39) |
Q469K |
probably damaging |
Het |
Slc44a1 |
T |
C |
4: 53,553,550 (GRCm39) |
V519A |
possibly damaging |
Het |
Slco6d1 |
A |
G |
1: 98,359,955 (GRCm39) |
|
probably null |
Het |
Strap |
T |
C |
6: 137,722,521 (GRCm39) |
S219P |
probably damaging |
Het |
Tjp1 |
T |
C |
7: 64,950,967 (GRCm39) |
I1636V |
probably benign |
Het |
Tle1 |
G |
A |
4: 72,087,355 (GRCm39) |
R126C |
possibly damaging |
Het |
Traf3 |
T |
A |
12: 111,205,501 (GRCm39) |
I94N |
probably damaging |
Het |
Trps1 |
G |
T |
15: 50,710,266 (GRCm39) |
T28K |
probably benign |
Het |
Unc13c |
T |
A |
9: 73,643,985 (GRCm39) |
T1160S |
probably damaging |
Het |
Vapb |
G |
A |
2: 173,619,964 (GRCm39) |
V228M |
probably benign |
Het |
Wdr3 |
A |
T |
3: 100,055,424 (GRCm39) |
D506E |
probably damaging |
Het |
Zfp119a |
A |
T |
17: 56,172,792 (GRCm39) |
C350* |
probably null |
Het |
Zfp687 |
G |
A |
3: 94,919,727 (GRCm39) |
A15V |
probably damaging |
Het |
Zkscan6 |
A |
G |
11: 65,719,287 (GRCm39) |
T436A |
possibly damaging |
Het |
|
Other mutations in Zfp51 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R3918:Zfp51
|
UTSW |
17 |
21,683,702 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2012-04-20 |