Incidental Mutation 'IGL01667:Zfp692'
| ID |
103327 |
| 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 # |
IGL01667
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
58197895-58205453 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58202379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 378
(H378R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049353]
[ENSMUST00000057836]
[ENSMUST00000064786]
[ENSMUST00000108829]
[ENSMUST00000153510]
|
| AlphaFold |
Q3U381 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049353
AA Change: H378R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131896
Gene: ENSMUSG00000037243
AA Change: H378R
| 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 |
possibly damaging
Transcript: ENSMUST00000153510
AA Change: H378R
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126674
Gene: ENSMUSG00000037243
AA Change: H378R
| 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 |
|
| 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 |
|---|
| Akap13 |
A |
G |
7: 75,219,767 (GRCm39) |
T57A |
probably damaging |
Het |
| Akna |
G |
T |
4: 63,297,396 (GRCm39) |
T886N |
probably benign |
Het |
| Aqp9 |
A |
G |
9: 71,045,495 (GRCm39) |
V38A |
probably benign |
Het |
| Awat2 |
C |
T |
X: 99,447,860 (GRCm39) |
G124D |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,835,293 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,409,558 (GRCm39) |
Y545C |
probably damaging |
Het |
| Cldn23 |
A |
G |
8: 36,293,074 (GRCm39) |
F138S |
possibly damaging |
Het |
| Clec4a3 |
A |
C |
6: 122,929,819 (GRCm39) |
|
probably benign |
Het |
| Dlgap3 |
C |
A |
4: 127,127,690 (GRCm39) |
T786K |
probably benign |
Het |
| Dnah2 |
A |
C |
11: 69,435,221 (GRCm39) |
S50A |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,411,767 (GRCm39) |
I285N |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,586,451 (GRCm39) |
Y1467H |
probably damaging |
Het |
| Fgf22 |
C |
T |
10: 79,592,588 (GRCm39) |
P115L |
probably damaging |
Het |
| Fzd2 |
G |
T |
11: 102,496,608 (GRCm39) |
V351L |
possibly damaging |
Het |
| Gapdhs |
T |
A |
7: 30,436,062 (GRCm39) |
E174V |
possibly damaging |
Het |
| Gjc2 |
A |
C |
11: 59,068,344 (GRCm39) |
I46S |
probably damaging |
Het |
| Gm5581 |
T |
C |
6: 131,144,735 (GRCm39) |
|
noncoding transcript |
Het |
| Krt1c |
C |
A |
15: 101,724,765 (GRCm39) |
V282L |
possibly damaging |
Het |
| Myh15 |
G |
A |
16: 49,015,942 (GRCm39) |
V1873M |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,799,536 (GRCm39) |
T931A |
probably damaging |
Het |
| Myo6 |
A |
T |
9: 80,197,175 (GRCm39) |
K965N |
unknown |
Het |
| Or5a3 |
T |
C |
19: 12,400,120 (GRCm39) |
V149A |
probably benign |
Het |
| Pcnx3 |
T |
C |
19: 5,736,658 (GRCm39) |
R160G |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,461,014 (GRCm39) |
I272T |
probably damaging |
Het |
| Slc35b4 |
A |
G |
6: 34,144,610 (GRCm39) |
Y82H |
possibly damaging |
Het |
| Spdya |
T |
C |
17: 71,863,254 (GRCm39) |
M1T |
probably null |
Het |
| St6gal1 |
A |
G |
16: 23,140,174 (GRCm39) |
N115S |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,902,744 (GRCm39) |
|
probably benign |
Het |
| Tfrc |
A |
G |
16: 32,443,261 (GRCm39) |
|
probably benign |
Het |
| Trip11 |
A |
C |
12: 101,845,121 (GRCm39) |
F1539C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,611,422 (GRCm39) |
I15624N |
possibly damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,225 (GRCm39) |
M206L |
probably benign |
Het |
| Zfp362 |
A |
G |
4: 128,680,902 (GRCm39) |
L141P |
probably damaging |
Het |
| Zfp799 |
T |
C |
17: 33,040,794 (GRCm39) |
Q52R |
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 |
|
IGL00978:Zfp692
|
APN |
11 |
58,204,855 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
2014-01-21 |
Incidental Mutation