Incidental Mutation 'IGL02122:Zfp507'
ID |
280664 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp507
|
Ensembl Gene |
ENSMUSG00000044452 |
Gene Name |
zinc finger protein 507 |
Synonyms |
A230056M16Rik, 1810022O10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.228)
|
Stock # |
IGL02122
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
35471768-35502428 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 35475520 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 898
(L898I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058609
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061586]
[ENSMUST00000187282]
[ENSMUST00000206615]
|
AlphaFold |
Q6ZPY5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061586
AA Change: L898I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058609 Gene: ENSMUSG00000044452 AA Change: L898I
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
122 |
144 |
1.56e-2 |
SMART |
ZnF_C2H2
|
152 |
175 |
2.49e-1 |
SMART |
low complexity region
|
178 |
192 |
N/A |
INTRINSIC |
ZnF_C2H2
|
237 |
259 |
8.52e0 |
SMART |
ZnF_C2H2
|
630 |
652 |
2.75e-3 |
SMART |
ZnF_C2H2
|
658 |
680 |
1.26e-2 |
SMART |
ZnF_C2H2
|
686 |
709 |
5.42e-2 |
SMART |
ZnF_C2H2
|
746 |
768 |
4.79e-3 |
SMART |
ZnF_C2H2
|
774 |
796 |
1.45e-2 |
SMART |
ZnF_C2H2
|
899 |
921 |
3.83e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181078
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187282
AA Change: L106I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140940 Gene: ENSMUSG00000044452 AA Change: L106I
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
107 |
129 |
1.6e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206615
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206761
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
C |
T |
12: 71,217,299 (GRCm39) |
T756I |
possibly damaging |
Het |
Abi3bp |
T |
C |
16: 56,507,491 (GRCm39) |
|
probably benign |
Het |
Adcy5 |
G |
A |
16: 35,103,982 (GRCm39) |
|
probably benign |
Het |
Adcy6 |
T |
A |
15: 98,496,763 (GRCm39) |
H504L |
possibly damaging |
Het |
Ank2 |
A |
G |
3: 126,731,523 (GRCm39) |
|
probably benign |
Het |
Atxn2 |
A |
G |
5: 121,916,093 (GRCm39) |
D34G |
probably damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Carmil1 |
T |
C |
13: 24,220,541 (GRCm39) |
E657G |
possibly damaging |
Het |
Cdc25c |
T |
C |
18: 34,877,038 (GRCm39) |
I212V |
probably benign |
Het |
Chl1 |
A |
G |
6: 103,652,098 (GRCm39) |
D338G |
probably benign |
Het |
Cog6 |
T |
C |
3: 52,905,763 (GRCm39) |
I361V |
probably benign |
Het |
Dip2c |
T |
C |
13: 9,556,695 (GRCm39) |
S80P |
possibly damaging |
Het |
Dmrtc2 |
A |
T |
7: 24,572,008 (GRCm39) |
R34S |
possibly damaging |
Het |
Exph5 |
A |
G |
9: 53,284,974 (GRCm39) |
N685S |
probably benign |
Het |
Flnc |
A |
T |
6: 29,444,335 (GRCm39) |
I684L |
possibly damaging |
Het |
Foxk1 |
T |
A |
5: 142,437,184 (GRCm39) |
|
probably benign |
Het |
Gprc6a |
T |
C |
10: 51,502,819 (GRCm39) |
N348S |
probably benign |
Het |
Gspt1 |
T |
C |
16: 11,047,080 (GRCm39) |
K445R |
probably damaging |
Het |
Hace1 |
T |
C |
10: 45,494,700 (GRCm39) |
V170A |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,221,047 (GRCm39) |
I1481T |
possibly damaging |
Het |
Ighv4-1 |
A |
T |
12: 113,912,145 (GRCm39) |
L36Q |
possibly damaging |
Het |
Ints1 |
G |
A |
5: 139,750,905 (GRCm39) |
Q833* |
probably null |
Het |
Myo15a |
T |
C |
11: 60,374,292 (GRCm39) |
F96L |
probably benign |
Het |
Myom1 |
G |
T |
17: 71,399,132 (GRCm39) |
R998L |
probably damaging |
Het |
Nacc2 |
A |
G |
2: 25,979,960 (GRCm39) |
S159P |
probably benign |
Het |
Or5k15 |
T |
C |
16: 58,710,134 (GRCm39) |
T150A |
probably benign |
Het |
Or5w10 |
A |
G |
2: 87,375,447 (GRCm39) |
V147A |
probably benign |
Het |
Or7e177 |
T |
A |
9: 20,211,880 (GRCm39) |
L128Q |
probably damaging |
Het |
Pbrm1 |
A |
G |
14: 30,811,573 (GRCm39) |
I1197V |
probably damaging |
Het |
Pde4dip |
G |
A |
3: 97,674,737 (GRCm39) |
R60C |
probably damaging |
Het |
Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
Pitpnm1 |
T |
C |
19: 4,157,796 (GRCm39) |
Y499H |
probably damaging |
Het |
Plekhn1 |
C |
T |
4: 156,308,313 (GRCm39) |
|
probably null |
Het |
Prmt8 |
A |
G |
6: 127,667,680 (GRCm39) |
Y332H |
probably benign |
Het |
Prpf38a |
A |
G |
4: 108,436,238 (GRCm39) |
I25T |
possibly damaging |
Het |
Rpf1 |
T |
C |
3: 146,227,022 (GRCm39) |
K44E |
probably benign |
Het |
Rusc2 |
T |
C |
4: 43,421,685 (GRCm39) |
F702L |
possibly damaging |
Het |
Ryr2 |
A |
T |
13: 11,756,755 (GRCm39) |
I1633K |
probably damaging |
Het |
Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
Tkt |
T |
C |
14: 30,293,158 (GRCm39) |
V510A |
possibly damaging |
Het |
Tmem106a |
C |
A |
11: 101,481,240 (GRCm39) |
N249K |
probably damaging |
Het |
Tmpo |
A |
T |
10: 90,999,998 (GRCm39) |
S157T |
possibly damaging |
Het |
Tspan32 |
A |
T |
7: 142,569,372 (GRCm39) |
I144F |
probably damaging |
Het |
Ufsp2 |
G |
A |
8: 46,448,685 (GRCm39) |
V429I |
probably benign |
Het |
Unc13c |
T |
A |
9: 73,641,679 (GRCm39) |
|
probably benign |
Het |
Usp47 |
A |
T |
7: 111,706,115 (GRCm39) |
K1259M |
probably damaging |
Het |
Zdhhc18 |
A |
T |
4: 133,340,946 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Zfp507 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00715:Zfp507
|
APN |
7 |
35,494,137 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL00835:Zfp507
|
APN |
7 |
35,475,463 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01083:Zfp507
|
APN |
7 |
35,493,463 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01359:Zfp507
|
APN |
7 |
35,493,927 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01418:Zfp507
|
APN |
7 |
35,493,237 (GRCm39) |
splice site |
probably null |
|
IGL02506:Zfp507
|
APN |
7 |
35,475,891 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02601:Zfp507
|
APN |
7 |
35,491,136 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02643:Zfp507
|
APN |
7 |
35,494,656 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03129:Zfp507
|
APN |
7 |
35,493,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R0400:Zfp507
|
UTSW |
7 |
35,491,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R0812:Zfp507
|
UTSW |
7 |
35,502,048 (GRCm39) |
intron |
probably benign |
|
R1183:Zfp507
|
UTSW |
7 |
35,494,315 (GRCm39) |
missense |
probably damaging |
0.99 |
R1381:Zfp507
|
UTSW |
7 |
35,475,435 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1542:Zfp507
|
UTSW |
7 |
35,494,226 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1626:Zfp507
|
UTSW |
7 |
35,494,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R1759:Zfp507
|
UTSW |
7 |
35,475,403 (GRCm39) |
missense |
probably damaging |
0.99 |
R1843:Zfp507
|
UTSW |
7 |
35,493,150 (GRCm39) |
missense |
probably damaging |
0.97 |
R1852:Zfp507
|
UTSW |
7 |
35,487,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R1893:Zfp507
|
UTSW |
7 |
35,502,052 (GRCm39) |
intron |
probably benign |
|
R1923:Zfp507
|
UTSW |
7 |
35,493,150 (GRCm39) |
missense |
probably damaging |
0.97 |
R1925:Zfp507
|
UTSW |
7 |
35,493,150 (GRCm39) |
missense |
probably damaging |
0.97 |
R1927:Zfp507
|
UTSW |
7 |
35,493,150 (GRCm39) |
missense |
probably damaging |
0.97 |
R2139:Zfp507
|
UTSW |
7 |
35,493,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R2191:Zfp507
|
UTSW |
7 |
35,494,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R2431:Zfp507
|
UTSW |
7 |
35,494,827 (GRCm39) |
missense |
probably benign |
0.08 |
R2921:Zfp507
|
UTSW |
7 |
35,494,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R2922:Zfp507
|
UTSW |
7 |
35,494,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R3436:Zfp507
|
UTSW |
7 |
35,487,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R4483:Zfp507
|
UTSW |
7 |
35,487,141 (GRCm39) |
critical splice donor site |
probably null |
|
R4751:Zfp507
|
UTSW |
7 |
35,493,807 (GRCm39) |
missense |
probably damaging |
0.99 |
R4852:Zfp507
|
UTSW |
7 |
35,493,480 (GRCm39) |
missense |
probably benign |
0.01 |
R5298:Zfp507
|
UTSW |
7 |
35,475,421 (GRCm39) |
missense |
probably damaging |
0.99 |
R5602:Zfp507
|
UTSW |
7 |
35,475,663 (GRCm39) |
nonsense |
probably null |
|
R5707:Zfp507
|
UTSW |
7 |
35,493,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R5785:Zfp507
|
UTSW |
7 |
35,487,167 (GRCm39) |
missense |
probably benign |
0.20 |
R6140:Zfp507
|
UTSW |
7 |
35,493,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R6674:Zfp507
|
UTSW |
7 |
35,494,159 (GRCm39) |
missense |
probably damaging |
0.98 |
R6714:Zfp507
|
UTSW |
7 |
35,487,152 (GRCm39) |
missense |
probably damaging |
0.99 |
R7045:Zfp507
|
UTSW |
7 |
35,494,978 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7334:Zfp507
|
UTSW |
7 |
35,475,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R7365:Zfp507
|
UTSW |
7 |
35,475,843 (GRCm39) |
missense |
unknown |
|
R7569:Zfp507
|
UTSW |
7 |
35,493,969 (GRCm39) |
missense |
probably damaging |
0.99 |
R7662:Zfp507
|
UTSW |
7 |
35,487,229 (GRCm39) |
nonsense |
probably null |
|
R7846:Zfp507
|
UTSW |
7 |
35,493,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R9100:Zfp507
|
UTSW |
7 |
35,494,446 (GRCm39) |
missense |
probably benign |
0.39 |
R9136:Zfp507
|
UTSW |
7 |
35,475,883 (GRCm39) |
missense |
probably damaging |
0.96 |
R9513:Zfp507
|
UTSW |
7 |
35,475,573 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Zfp507
|
UTSW |
7 |
35,493,702 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Posted On |
2015-04-16 |