Incidental Mutation 'R1493:Zfp692'
ID |
165570 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp692
|
Ensembl Gene |
ENSMUSG00000037243 |
Gene Name |
zinc finger protein 692 |
Synonyms |
Zfp692-ps |
MMRRC Submission |
039544-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1493 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
58197895-58205453 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58204866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 409
(I409F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131896
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049353]
[ENSMUST00000057836]
[ENSMUST00000064786]
[ENSMUST00000108829]
[ENSMUST00000153510]
[ENSMUST00000155662]
[ENSMUST00000186859]
|
AlphaFold |
Q3U381 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049353
AA Change: I409F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000131896 Gene: ENSMUSG00000037243 AA Change: I409F
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: I409F
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000126674 Gene: ENSMUSG00000037243 AA Change: I409F
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 |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
T |
C |
11: 58,767,544 (GRCm39) |
S14P |
probably damaging |
Het |
Abca15 |
A |
T |
7: 119,981,513 (GRCm39) |
D989V |
probably benign |
Het |
Abcg8 |
T |
C |
17: 85,004,107 (GRCm39) |
S472P |
probably damaging |
Het |
Ablim2 |
T |
C |
5: 35,966,605 (GRCm39) |
F178S |
probably damaging |
Het |
Adprm |
A |
G |
11: 66,932,702 (GRCm39) |
V69A |
possibly damaging |
Het |
Ankrd27 |
C |
T |
7: 35,307,790 (GRCm39) |
S343L |
probably benign |
Het |
Arfgef3 |
A |
G |
10: 18,506,627 (GRCm39) |
S833P |
probably damaging |
Het |
Arhgap42 |
T |
G |
9: 9,030,798 (GRCm39) |
E339D |
probably benign |
Het |
Axdnd1 |
T |
A |
1: 156,174,271 (GRCm39) |
M799L |
probably benign |
Het |
Cars2 |
A |
T |
8: 11,567,817 (GRCm39) |
|
probably null |
Het |
Cd7 |
T |
C |
11: 120,928,967 (GRCm39) |
T95A |
probably damaging |
Het |
Cep290 |
A |
T |
10: 100,398,043 (GRCm39) |
T2200S |
probably benign |
Het |
Cep44 |
A |
G |
8: 56,985,870 (GRCm39) |
S299P |
probably damaging |
Het |
Cfap58 |
C |
T |
19: 47,976,943 (GRCm39) |
H731Y |
probably damaging |
Het |
Ehbp1 |
T |
A |
11: 21,956,866 (GRCm39) |
E1204V |
probably damaging |
Het |
Fgd5 |
A |
G |
6: 91,964,612 (GRCm39) |
K124E |
probably benign |
Het |
Folh1 |
T |
C |
7: 86,410,938 (GRCm39) |
D268G |
probably damaging |
Het |
Gm4559 |
A |
T |
7: 141,828,050 (GRCm39) |
C17* |
probably null |
Het |
Helz |
A |
G |
11: 107,504,751 (GRCm39) |
I413V |
probably benign |
Het |
Hexd |
A |
G |
11: 121,112,093 (GRCm39) |
I438V |
probably benign |
Het |
Hrh1 |
G |
A |
6: 114,457,838 (GRCm39) |
G373D |
probably damaging |
Het |
Hs3st5 |
G |
A |
10: 36,708,870 (GRCm39) |
G135D |
probably damaging |
Het |
Iqcf6 |
T |
C |
9: 106,504,641 (GRCm39) |
Y102H |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,758,202 (GRCm39) |
S1124R |
probably damaging |
Het |
Map3k5 |
A |
G |
10: 19,904,859 (GRCm39) |
D387G |
probably damaging |
Het |
Morc2a |
A |
G |
11: 3,628,557 (GRCm39) |
N337D |
probably benign |
Het |
Musk |
C |
T |
4: 58,354,003 (GRCm39) |
A352V |
probably benign |
Het |
Myef2l |
A |
G |
3: 10,153,944 (GRCm39) |
K238E |
probably damaging |
Het |
Nans |
G |
A |
4: 46,500,761 (GRCm39) |
E218K |
probably damaging |
Het |
Niban1 |
T |
A |
1: 151,581,841 (GRCm39) |
V479D |
probably damaging |
Het |
Ninl |
T |
G |
2: 150,822,015 (GRCm39) |
D29A |
probably damaging |
Het |
Nod1 |
A |
G |
6: 54,921,041 (GRCm39) |
F426L |
probably damaging |
Het |
Notch4 |
T |
A |
17: 34,786,656 (GRCm39) |
C265* |
probably null |
Het |
Nsd3 |
A |
G |
8: 26,203,407 (GRCm39) |
D1307G |
probably benign |
Het |
Or51h1 |
T |
C |
7: 102,308,220 (GRCm39) |
L64P |
probably damaging |
Het |
Or52e18 |
T |
A |
7: 104,609,709 (GRCm39) |
T77S |
probably damaging |
Het |
Orai3 |
G |
A |
7: 127,373,077 (GRCm39) |
V193M |
possibly damaging |
Het |
Prkag1 |
T |
C |
15: 98,711,551 (GRCm39) |
Y271C |
probably benign |
Het |
Rfc4 |
T |
C |
16: 22,936,758 (GRCm39) |
I116V |
probably damaging |
Het |
Ric1 |
T |
C |
19: 29,557,249 (GRCm39) |
Y445H |
probably benign |
Het |
Rnmt |
G |
A |
18: 68,446,778 (GRCm39) |
D268N |
probably damaging |
Het |
Rsph1 |
C |
T |
17: 31,484,873 (GRCm39) |
G139D |
probably damaging |
Het |
Sez6l2 |
C |
A |
7: 126,560,984 (GRCm39) |
P483Q |
probably damaging |
Het |
Sgo2b |
A |
G |
8: 64,379,889 (GRCm39) |
L981P |
probably damaging |
Het |
Shmt2 |
A |
G |
10: 127,354,812 (GRCm39) |
|
probably null |
Het |
Sorbs3 |
T |
C |
14: 70,430,076 (GRCm39) |
T353A |
possibly damaging |
Het |
Stk25 |
T |
C |
1: 93,553,322 (GRCm39) |
T260A |
probably benign |
Het |
Tasor |
A |
G |
14: 27,171,926 (GRCm39) |
S425G |
probably damaging |
Het |
Thap12 |
A |
G |
7: 98,364,645 (GRCm39) |
H271R |
probably benign |
Het |
Tmprss13 |
A |
G |
9: 45,247,405 (GRCm39) |
T256A |
probably benign |
Het |
Tpo |
A |
T |
12: 30,181,808 (GRCm39) |
I29N |
possibly damaging |
Het |
Trpc2 |
A |
T |
7: 101,739,783 (GRCm39) |
N569I |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,546,350 (GRCm39) |
T1607A |
probably benign |
Het |
Vldlr |
A |
G |
19: 27,218,691 (GRCm39) |
N514S |
probably benign |
Het |
Vps18 |
A |
G |
2: 119,127,613 (GRCm39) |
Y812C |
probably damaging |
Het |
Zfp735 |
G |
A |
11: 73,601,305 (GRCm39) |
C83Y |
possibly damaging |
Het |
Zic1 |
A |
G |
9: 91,246,809 (GRCm39) |
S88P |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTACTGACACCACCTGTTGGGAG -3'
(R):5'- GCAGAAATGCTGGGACTAGACACC -3'
Sequencing Primer
(F):5'- AGTGGTGGGCTAAAACCTG -3'
(R):5'- AGTGAGCTACCACACTGTCTG -3'
|
Posted On |
2014-03-28 |