Incidental Mutation 'IGL02601:Zfp507'
ID |
300057 |
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 # |
IGL02601
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
35471768-35502428 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35491136 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 716
(S716P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058609
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061586]
[ENSMUST00000187282]
[ENSMUST00000205670]
[ENSMUST00000206615]
|
AlphaFold |
Q6ZPY5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061586
AA Change: S716P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058609 Gene: ENSMUSG00000044452 AA Change: S716P
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 |
probably benign
Transcript: ENSMUST00000187282
|
SMART Domains |
Protein: ENSMUSP00000140940 Gene: ENSMUSG00000044452
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
107 |
129 |
1.6e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205670
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206615
AA Change: S192P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adap1 |
C |
T |
5: 139,293,541 (GRCm39) |
V57M |
probably damaging |
Het |
Agap3 |
A |
G |
5: 24,688,369 (GRCm39) |
K23E |
possibly damaging |
Het |
Anln |
A |
T |
9: 22,249,331 (GRCm39) |
I132K |
probably damaging |
Het |
Anxa4 |
T |
C |
6: 86,737,683 (GRCm39) |
T13A |
probably benign |
Het |
Bdp1 |
A |
T |
13: 100,235,022 (GRCm39) |
Y191N |
possibly damaging |
Het |
Carm1 |
G |
A |
9: 21,498,204 (GRCm39) |
V403M |
probably damaging |
Het |
Cbx7 |
A |
G |
15: 79,807,671 (GRCm39) |
|
probably null |
Het |
Chd8 |
A |
C |
14: 52,451,757 (GRCm39) |
N16K |
possibly damaging |
Het |
Crtc3 |
A |
T |
7: 80,242,315 (GRCm39) |
D499E |
probably damaging |
Het |
Cul3 |
A |
G |
1: 80,249,432 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 104,060,631 (GRCm39) |
D1421G |
probably damaging |
Het |
Fgb |
T |
A |
3: 82,952,367 (GRCm39) |
E167D |
probably benign |
Het |
Gimap6 |
T |
A |
6: 48,679,409 (GRCm39) |
Q209L |
probably damaging |
Het |
Gm3604 |
G |
A |
13: 62,517,990 (GRCm39) |
H123Y |
possibly damaging |
Het |
Gm5884 |
A |
T |
6: 128,622,749 (GRCm39) |
|
noncoding transcript |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Obox3 |
T |
C |
7: 15,360,848 (GRCm39) |
E97G |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,466,264 (GRCm39) |
H1488R |
probably benign |
Het |
Or4e1 |
A |
T |
14: 52,700,802 (GRCm39) |
Y221* |
probably null |
Het |
Or6c75 |
A |
G |
10: 129,337,723 (GRCm39) |
*323W |
probably null |
Het |
Pak5 |
T |
A |
2: 135,958,855 (GRCm39) |
K78* |
probably null |
Het |
Paqr9 |
A |
G |
9: 95,442,877 (GRCm39) |
N289S |
probably damaging |
Het |
Pde3b |
G |
A |
7: 114,122,577 (GRCm39) |
R715H |
probably damaging |
Het |
Pglyrp2 |
T |
C |
17: 32,634,835 (GRCm39) |
H509R |
probably benign |
Het |
Pik3ap1 |
A |
C |
19: 41,290,881 (GRCm39) |
N550K |
probably benign |
Het |
Pon3 |
A |
G |
6: 5,221,671 (GRCm39) |
Y320H |
probably damaging |
Het |
Ptprt |
T |
A |
2: 161,608,227 (GRCm39) |
T690S |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 23,000,686 (GRCm39) |
D925E |
probably benign |
Het |
Rag1 |
T |
C |
2: 101,473,018 (GRCm39) |
D708G |
probably damaging |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Rbmy1b |
A |
G |
Y: 3,774,885 (GRCm39) |
I27M |
probably benign |
Het |
Rfx2 |
G |
A |
17: 57,092,354 (GRCm39) |
H315Y |
possibly damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sis |
T |
C |
3: 72,820,543 (GRCm39) |
N1407S |
probably benign |
Het |
Slco1c1 |
T |
A |
6: 141,490,555 (GRCm39) |
L261Q |
probably damaging |
Het |
Sox30 |
T |
G |
11: 45,875,589 (GRCm39) |
L447R |
possibly damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Ssu72 |
A |
G |
4: 155,789,882 (GRCm39) |
N15S |
possibly damaging |
Het |
Stat4 |
C |
T |
1: 52,137,574 (GRCm39) |
S455F |
probably damaging |
Het |
Stk4 |
T |
A |
2: 163,928,462 (GRCm39) |
L97Q |
probably damaging |
Het |
Sulf1 |
A |
T |
1: 12,856,869 (GRCm39) |
N40I |
probably damaging |
Het |
Sympk |
G |
A |
7: 18,782,794 (GRCm39) |
V877I |
probably benign |
Het |
Taar7b |
A |
T |
10: 23,876,204 (GRCm39) |
H123L |
probably damaging |
Het |
Teddm1b |
A |
G |
1: 153,750,362 (GRCm39) |
Y57C |
probably damaging |
Het |
Tep1 |
A |
T |
14: 51,070,935 (GRCm39) |
C2121* |
probably null |
Het |
Tnfsf11 |
T |
A |
14: 78,537,385 (GRCm39) |
R93* |
probably null |
Het |
Tspan12 |
A |
C |
6: 21,835,378 (GRCm39) |
|
probably benign |
Het |
Tyrp1 |
A |
G |
4: 80,759,012 (GRCm39) |
E295G |
probably null |
Het |
Vps4a |
T |
C |
8: 107,769,693 (GRCm39) |
I334T |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,583,462 (GRCm39) |
S1110P |
probably damaging |
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 |
|
IGL02122:Zfp507
|
APN |
7 |
35,475,520 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02506:Zfp507
|
APN |
7 |
35,475,891 (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 |