Incidental Mutation 'IGL00978:Zfp692'
| ID |
28653 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp692
|
| Ensembl Gene |
ENSMUSG00000037243 |
| Gene Name |
zinc finger protein 692 |
| Synonyms |
Zfp692-ps |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00978
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
58197895-58205453 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58204855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 405
(I405T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049353]
[ENSMUST00000057836]
[ENSMUST00000064786]
[ENSMUST00000108829]
[ENSMUST00000153510]
[ENSMUST00000155662]
[ENSMUST00000186859]
|
| AlphaFold |
Q3U381 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049353
AA Change: I405T
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131896
Gene: ENSMUSG00000037243
AA Change: I405T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
232 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
327 |
352 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
358 |
382 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
447 |
470 |
6.23e-2 |
SMART |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057836
|
| SMART Domains |
Protein: ENSMUSP00000060088
Gene: ENSMUSG00000049755
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
15 |
37 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
43 |
65 |
8.75e0 |
SMART |
|
ZnF_C2H2
|
71 |
93 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
100 |
123 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
129 |
151 |
1.59e1 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
6.67e-2 |
SMART |
|
low complexity region
|
421 |
441 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064786
|
| SMART Domains |
Protein: ENSMUSP00000070567
Gene: ENSMUSG00000049755
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
15 |
37 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
43 |
65 |
8.75e0 |
SMART |
|
ZnF_C2H2
|
71 |
93 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
100 |
123 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
129 |
151 |
1.59e1 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
6.67e-2 |
SMART |
|
low complexity region
|
421 |
441 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108829
|
| SMART Domains |
Protein: ENSMUSP00000104457
Gene: ENSMUSG00000049755
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
15 |
37 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
43 |
65 |
8.75e0 |
SMART |
|
ZnF_C2H2
|
71 |
93 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
100 |
123 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
129 |
151 |
1.59e1 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
6.67e-2 |
SMART |
|
low complexity region
|
421 |
441 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153510
AA Change: I405T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000126674
Gene: ENSMUSG00000037243
AA Change: I405T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
232 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
327 |
352 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
358 |
382 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
447 |
470 |
6.23e-2 |
SMART |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155662
|
| SMART Domains |
Protein: ENSMUSP00000114561
Gene: ENSMUSG00000049755
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
15 |
37 |
4.17e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186859
|
| SMART Domains |
Protein: ENSMUSP00000140236
Gene: ENSMUSG00000049755
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
15 |
37 |
1.8e-5 |
SMART |
|
ZnF_C2H2
|
43 |
65 |
3.6e-2 |
SMART |
|
ZnF_C2H2
|
71 |
90 |
6.1e-1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610009L18Rik |
T |
C |
11: 120,241,773 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,424,605 (GRCm39) |
|
probably benign |
Het |
| Angptl8 |
T |
C |
9: 21,748,349 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
T |
A |
4: 126,722,632 (GRCm39) |
D383E |
probably benign |
Het |
| Cep97 |
C |
T |
16: 55,745,323 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
A |
T |
7: 7,290,672 (GRCm39) |
L649H |
probably damaging |
Het |
| Col5a2 |
T |
C |
1: 45,415,899 (GRCm39) |
N1416S |
probably benign |
Het |
| Erbb2 |
C |
T |
11: 98,326,456 (GRCm39) |
P1027S |
probably damaging |
Het |
| Eya1 |
A |
G |
1: 14,340,925 (GRCm39) |
|
probably benign |
Het |
| Gfm2 |
T |
C |
13: 97,299,485 (GRCm39) |
I402T |
probably benign |
Het |
| Gmeb2 |
A |
T |
2: 180,900,836 (GRCm39) |
V187E |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,838,173 (GRCm39) |
H662R |
possibly damaging |
Het |
| Ifne |
T |
C |
4: 88,798,268 (GRCm39) |
Q50R |
probably benign |
Het |
| Kidins220 |
A |
G |
12: 25,107,473 (GRCm39) |
D1642G |
probably damaging |
Het |
| Klhl32 |
T |
A |
4: 24,682,245 (GRCm39) |
D146V |
probably damaging |
Het |
| Krt36 |
T |
C |
11: 99,993,774 (GRCm39) |
I355V |
probably damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,601,188 (GRCm39) |
S73R |
possibly damaging |
Het |
| Ltbp3 |
A |
T |
19: 5,804,047 (GRCm39) |
H853L |
probably benign |
Het |
| Map3k5 |
G |
A |
10: 20,017,313 (GRCm39) |
R1369Q |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,663,326 (GRCm39) |
N148S |
probably benign |
Het |
| Mylk3 |
A |
T |
8: 86,082,155 (GRCm39) |
L211* |
probably null |
Het |
| Nras |
T |
C |
3: 102,966,232 (GRCm39) |
|
probably benign |
Het |
| Or2n1c |
A |
T |
17: 38,519,873 (GRCm39) |
I246F |
probably damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
| Os9 |
A |
T |
10: 126,956,378 (GRCm39) |
Y66N |
probably damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,151,228 (GRCm39) |
D15G |
possibly damaging |
Het |
| Reg3a |
A |
T |
6: 78,359,284 (GRCm39) |
R95* |
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,749,728 (GRCm39) |
P1425S |
probably damaging |
Het |
| Smad2 |
T |
C |
18: 76,432,846 (GRCm39) |
|
probably benign |
Het |
| Ttll5 |
C |
T |
12: 85,980,256 (GRCm39) |
Q76* |
probably null |
Het |
| Uri1 |
A |
T |
7: 37,696,156 (GRCm39) |
|
probably benign |
Het |
| Vmn2r102 |
G |
T |
17: 19,899,185 (GRCm39) |
|
probably null |
Het |
| Vmn2r70 |
T |
G |
7: 85,213,007 (GRCm39) |
M467L |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,724,652 (GRCm39) |
D2218E |
possibly damaging |
Het |
|
| Other mutations in Zfp692 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Zfp692
|
APN |
11 |
58,200,824 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01667:Zfp692
|
APN |
11 |
58,202,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02209:Zfp692
|
APN |
11 |
58,204,824 (GRCm39) |
nonsense |
probably null |
|
|
IGL02873:Zfp692
|
APN |
11 |
58,199,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Zfp692
|
UTSW |
11 |
58,201,229 (GRCm39) |
splice site |
probably benign |
|
|
R0267:Zfp692
|
UTSW |
11 |
58,205,140 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0506:Zfp692
|
UTSW |
11 |
58,199,881 (GRCm39) |
nonsense |
probably null |
|
|
R0554:Zfp692
|
UTSW |
11 |
58,205,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0628:Zfp692
|
UTSW |
11 |
58,200,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0712:Zfp692
|
UTSW |
11 |
58,205,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1112:Zfp692
|
UTSW |
11 |
58,202,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1493:Zfp692
|
UTSW |
11 |
58,204,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Zfp692
|
UTSW |
11 |
58,201,002 (GRCm39) |
splice site |
probably benign |
|
|
R1853:Zfp692
|
UTSW |
11 |
58,200,805 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3551:Zfp692
|
UTSW |
11 |
58,200,254 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3552:Zfp692
|
UTSW |
11 |
58,200,254 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4281:Zfp692
|
UTSW |
11 |
58,205,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Zfp692
|
UTSW |
11 |
58,200,997 (GRCm39) |
missense |
probably null |
0.12 |
|
R5150:Zfp692
|
UTSW |
11 |
58,198,413 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
|
R7035:Zfp692
|
UTSW |
11 |
58,200,268 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7343:Zfp692
|
UTSW |
11 |
58,202,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7896:Zfp692
|
UTSW |
11 |
58,205,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8071:Zfp692
|
UTSW |
11 |
58,198,560 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8163:Zfp692
|
UTSW |
11 |
58,201,199 (GRCm39) |
splice site |
probably null |
|
|
R9043:Zfp692
|
UTSW |
11 |
58,198,550 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9487:Zfp692
|
UTSW |
11 |
58,199,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9777:Zfp692
|
UTSW |
11 |
58,199,638 (GRCm39) |
missense |
probably benign |
0.14 |
|
Z1186:Zfp692
|
UTSW |
11 |
58,200,844 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp692
|
UTSW |
11 |
58,199,859 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1187:Zfp692
|
UTSW |
11 |
58,200,844 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Zfp692
|
UTSW |
11 |
58,199,859 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1188:Zfp692
|
UTSW |
11 |
58,200,844 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Zfp692
|
UTSW |
11 |
58,199,859 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1189:Zfp692
|
UTSW |
11 |
58,200,844 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Zfp692
|
UTSW |
11 |
58,199,859 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1190:Zfp692
|
UTSW |
11 |
58,200,844 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Zfp692
|
UTSW |
11 |
58,199,859 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1191:Zfp692
|
UTSW |
11 |
58,200,844 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Zfp692
|
UTSW |
11 |
58,199,859 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1192:Zfp692
|
UTSW |
11 |
58,200,844 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Zfp692
|
UTSW |
11 |
58,199,859 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2013-04-17 |
Incidental Mutation