Incidental Mutation 'R5150:Zfp692'
ID |
395310 |
Institutional Source |
Beutler Lab
|
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 # |
R5150 (G1)
|
Quality Score |
126 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
58197895-58205453 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to C
at 58198413 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131896
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049353]
[ENSMUST00000153510]
|
AlphaFold |
Q3U381 |
Predicted Effect |
probably null
Transcript: ENSMUST00000049353
AA Change: M1T
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000131896 Gene: ENSMUSG00000037243 AA Change: M1T
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 null
Transcript: ENSMUST00000153510
AA Change: M1T
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000126674 Gene: ENSMUSG00000037243 AA Change: M1T
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
93% (57/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam33 |
T |
C |
2: 130,895,117 (GRCm39) |
|
probably benign |
Het |
Ahnak |
T |
C |
19: 8,988,268 (GRCm39) |
V3184A |
possibly damaging |
Het |
Aoc1 |
A |
G |
6: 48,883,084 (GRCm39) |
N320S |
possibly damaging |
Het |
Bin2 |
T |
C |
15: 100,543,244 (GRCm39) |
E313G |
probably damaging |
Het |
Brd10 |
C |
A |
19: 29,782,950 (GRCm39) |
A109S |
probably damaging |
Het |
C9orf72 |
A |
G |
4: 35,193,270 (GRCm39) |
S228P |
possibly damaging |
Het |
Ccdc47 |
T |
C |
11: 106,096,265 (GRCm39) |
D253G |
possibly damaging |
Het |
Ccdc73 |
A |
G |
2: 104,822,384 (GRCm39) |
T778A |
probably benign |
Het |
Cops3 |
C |
A |
11: 59,710,839 (GRCm39) |
D377Y |
probably damaging |
Het |
Cyp4a14 |
A |
C |
4: 115,350,806 (GRCm39) |
V156G |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Disp1 |
C |
A |
1: 182,871,063 (GRCm39) |
M452I |
probably damaging |
Het |
Fam210b |
T |
C |
2: 172,193,468 (GRCm39) |
Y94H |
probably damaging |
Het |
Fbxo45 |
C |
A |
16: 32,065,524 (GRCm39) |
|
probably benign |
Het |
Flrt2 |
T |
A |
12: 95,745,977 (GRCm39) |
M105K |
possibly damaging |
Het |
Gm26558 |
G |
A |
2: 70,491,656 (GRCm39) |
|
probably benign |
Het |
Gpr83 |
T |
G |
9: 14,772,101 (GRCm39) |
L91R |
probably damaging |
Het |
Greb1l |
TTTAATAACTT |
TTT |
18: 10,555,950 (GRCm39) |
|
probably null |
Het |
Hmces |
T |
A |
6: 87,910,217 (GRCm39) |
|
probably null |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Ksr2 |
A |
C |
5: 117,693,074 (GRCm39) |
E174A |
probably damaging |
Het |
Lats1 |
A |
G |
10: 7,588,415 (GRCm39) |
T1011A |
probably benign |
Het |
Lrrc46 |
T |
C |
11: 96,926,957 (GRCm39) |
D120G |
probably damaging |
Het |
Ncstn |
C |
A |
1: 171,895,151 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
C |
2: 52,059,130 (GRCm39) |
T6118A |
probably benign |
Het |
Nipsnap2 |
A |
C |
5: 129,834,175 (GRCm39) |
M272L |
probably benign |
Het |
Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
Or13c7c |
A |
G |
4: 43,836,301 (GRCm39) |
L63P |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Or4f15 |
T |
A |
2: 111,814,366 (GRCm39) |
T18S |
probably benign |
Het |
Or4f61 |
T |
A |
2: 111,922,880 (GRCm39) |
L55F |
possibly damaging |
Het |
Or4g17 |
T |
A |
2: 111,209,598 (GRCm39) |
D84E |
probably damaging |
Het |
Or5b118 |
A |
T |
19: 13,448,794 (GRCm39) |
Q153H |
probably benign |
Het |
Pold1 |
A |
G |
7: 44,185,256 (GRCm39) |
V750A |
possibly damaging |
Het |
Prdm11 |
C |
T |
2: 92,805,817 (GRCm39) |
E378K |
probably damaging |
Het |
Ptpn9 |
A |
G |
9: 56,943,954 (GRCm39) |
D276G |
probably benign |
Het |
Rlf |
A |
T |
4: 121,005,369 (GRCm39) |
F1204I |
probably damaging |
Het |
Robo1 |
C |
A |
16: 72,769,192 (GRCm39) |
T537K |
possibly damaging |
Het |
Sec31b |
T |
A |
19: 44,508,970 (GRCm39) |
M670L |
probably benign |
Het |
Sephs1 |
T |
A |
2: 4,904,321 (GRCm39) |
V233E |
possibly damaging |
Het |
Serpinb2 |
T |
C |
1: 107,450,939 (GRCm39) |
|
probably null |
Het |
Sf3b3 |
T |
C |
8: 111,550,008 (GRCm39) |
Q670R |
possibly damaging |
Het |
Slc8a2 |
A |
C |
7: 15,879,101 (GRCm39) |
D529A |
possibly damaging |
Het |
Sva |
A |
G |
6: 42,019,093 (GRCm39) |
N88D |
probably benign |
Het |
Tcf15 |
G |
T |
2: 151,986,051 (GRCm39) |
R169L |
probably damaging |
Het |
Tfr2 |
A |
G |
5: 137,572,752 (GRCm39) |
T188A |
probably benign |
Het |
Tshz1 |
T |
A |
18: 84,031,340 (GRCm39) |
K1023* |
probably null |
Het |
Ttc28 |
A |
G |
5: 111,373,555 (GRCm39) |
N966S |
probably damaging |
Het |
Unc5c |
T |
A |
3: 141,463,554 (GRCm39) |
I225N |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,184,067 (GRCm39) |
L1457S |
possibly damaging |
Het |
Zbtb34 |
G |
T |
2: 33,301,133 (GRCm39) |
H469Q |
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 |
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 |
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'- AGGAGAGCAAGTTTCCAGTC -3'
(R):5'- AAACCCAAGGCTGTAGGAAC -3'
Sequencing Primer
(F):5'- AGGAGAGCAAGTTTCCAGTCTTTTC -3'
(R):5'- AGGCTGTAGGAACCGGCTTG -3'
|
Posted On |
2016-06-21 |