Incidental Mutation 'IGL00835:Zfp507'
| ID |
14975 |
| 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: 0.190)
|
| Stock # |
IGL00835
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
35471768-35502428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 35475463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 917
(H917N)
|
| 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: H917N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058609
Gene: ENSMUSG00000044452
AA Change: H917N
| 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: H125N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140940
Gene: ENSMUSG00000044452
AA Change: H125N
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,341,892 (GRCm39) |
D1023G |
probably damaging |
Het |
| Agbl3 |
A |
G |
6: 34,776,667 (GRCm39) |
D391G |
probably damaging |
Het |
| Aggf1 |
C |
A |
13: 95,498,985 (GRCm39) |
V450F |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,599,116 (GRCm39) |
Y1314C |
probably damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,537,106 (GRCm39) |
F192L |
probably benign |
Het |
| Arnt |
A |
G |
3: 95,397,651 (GRCm39) |
D541G |
probably damaging |
Het |
| AU040320 |
A |
G |
4: 126,650,864 (GRCm39) |
|
probably null |
Het |
| Cep290 |
A |
T |
10: 100,399,242 (GRCm39) |
R2255* |
probably null |
Het |
| Creb3l4 |
T |
A |
3: 90,149,294 (GRCm39) |
H138L |
possibly damaging |
Het |
| Crispld2 |
G |
A |
8: 120,737,387 (GRCm39) |
R46H |
probably damaging |
Het |
| Crlf3 |
T |
C |
11: 79,938,501 (GRCm39) |
T379A |
probably benign |
Het |
| Ctsb |
T |
A |
14: 63,373,099 (GRCm39) |
D85E |
probably damaging |
Het |
| Etv2 |
A |
T |
7: 30,333,092 (GRCm39) |
D325E |
probably benign |
Het |
| Fggy |
T |
A |
4: 95,725,865 (GRCm39) |
I335N |
possibly damaging |
Het |
| Fkbp1b |
C |
T |
12: 4,883,726 (GRCm39) |
G90S |
probably damaging |
Het |
| Glra3 |
A |
G |
8: 56,394,012 (GRCm39) |
|
probably benign |
Het |
| Gpatch8 |
C |
A |
11: 102,369,375 (GRCm39) |
A1388S |
probably damaging |
Het |
| Grin2b |
T |
A |
6: 135,710,568 (GRCm39) |
S993C |
probably damaging |
Het |
| Gsg1 |
A |
T |
6: 135,221,090 (GRCm39) |
M103K |
possibly damaging |
Het |
| Il12rb2 |
A |
T |
6: 67,337,551 (GRCm39) |
V110D |
probably damaging |
Het |
| Kat8 |
A |
G |
7: 127,519,676 (GRCm39) |
D174G |
probably damaging |
Het |
| Krt82 |
A |
T |
15: 101,451,813 (GRCm39) |
I334N |
probably damaging |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,140 (GRCm39) |
T515I |
possibly damaging |
Het |
| Lrrtm2 |
T |
A |
18: 35,347,292 (GRCm39) |
L3F |
probably benign |
Het |
| Man1c1 |
T |
A |
4: 134,291,843 (GRCm39) |
Q575L |
probably damaging |
Het |
| Panx1 |
A |
G |
9: 14,919,140 (GRCm39) |
S240P |
probably damaging |
Het |
| Phldb2 |
G |
A |
16: 45,571,819 (GRCm39) |
T1191I |
probably damaging |
Het |
| Plb1 |
G |
A |
5: 32,521,516 (GRCm39) |
E1456K |
unknown |
Het |
| Prtn3 |
A |
G |
10: 79,716,886 (GRCm39) |
T84A |
probably benign |
Het |
| R3hdm1 |
T |
C |
1: 128,163,369 (GRCm39) |
|
probably benign |
Het |
| Sirpa |
G |
A |
2: 129,451,103 (GRCm39) |
C121Y |
probably damaging |
Het |
| Slc9a3 |
C |
A |
13: 74,308,421 (GRCm39) |
H475N |
probably benign |
Het |
| Smgc |
A |
T |
15: 91,728,623 (GRCm39) |
D121V |
probably damaging |
Het |
| Spata16 |
A |
T |
3: 26,978,411 (GRCm39) |
E459V |
probably damaging |
Het |
| Sult2a4 |
T |
A |
7: 13,643,714 (GRCm39) |
E284D |
probably benign |
Het |
| Tbc1d32 |
A |
G |
10: 55,965,942 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
A |
C |
6: 12,554,933 (GRCm39) |
V317G |
probably damaging |
Het |
| Trh |
T |
C |
6: 92,219,770 (GRCm39) |
E182G |
probably benign |
Het |
| Tsc1 |
A |
G |
2: 28,562,478 (GRCm39) |
D368G |
possibly damaging |
Het |
| Ttc39d |
T |
G |
17: 80,523,955 (GRCm39) |
C205G |
probably damaging |
Het |
| Unc79 |
T |
G |
12: 103,108,149 (GRCm39) |
|
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,887,222 (GRCm39) |
D724E |
probably damaging |
Het |
| Zc3h14 |
T |
A |
12: 98,713,783 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation