Incidental Mutation 'IGL02694:Zfp689'
ID |
303853 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp689
|
Ensembl Gene |
ENSMUSG00000048921 |
Gene Name |
zinc finger protein 689 |
Synonyms |
4933416E05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.161)
|
Stock # |
IGL02694
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
127041308-127048330 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127047573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 94
(D94G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101906
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053392]
[ENSMUST00000106299]
|
AlphaFold |
Q8BKK5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053392
AA Change: D94G
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000056610 Gene: ENSMUSG00000048921 AA Change: D94G
Domain | Start | End | E-Value | Type |
KRAB
|
29 |
89 |
5.03e-29 |
SMART |
low complexity region
|
121 |
139 |
N/A |
INTRINSIC |
ZnF_C2H2
|
149 |
169 |
1.69e2 |
SMART |
ZnF_C2H2
|
177 |
199 |
4.47e-3 |
SMART |
ZnF_C2H2
|
205 |
227 |
3.95e-4 |
SMART |
ZnF_C2H2
|
233 |
255 |
6.78e-3 |
SMART |
ZnF_C2H2
|
261 |
283 |
1.03e-2 |
SMART |
ZnF_C2H2
|
289 |
311 |
1.28e-3 |
SMART |
ZnF_C2H2
|
317 |
339 |
7.9e-4 |
SMART |
ZnF_C2H2
|
345 |
367 |
3.58e-2 |
SMART |
ZnF_C2H2
|
373 |
395 |
3.89e-3 |
SMART |
ZnF_C2H2
|
401 |
423 |
3.58e-2 |
SMART |
ZnF_C2H2
|
429 |
451 |
8.94e-3 |
SMART |
ZnF_C2H2
|
457 |
477 |
9.81e1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106299
AA Change: D94G
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000101906 Gene: ENSMUSG00000048921 AA Change: D94G
Domain | Start | End | E-Value | Type |
KRAB
|
29 |
89 |
5.03e-29 |
SMART |
low complexity region
|
121 |
139 |
N/A |
INTRINSIC |
ZnF_C2H2
|
149 |
169 |
1.69e2 |
SMART |
ZnF_C2H2
|
177 |
199 |
4.47e-3 |
SMART |
ZnF_C2H2
|
205 |
227 |
6.88e-4 |
SMART |
ZnF_C2H2
|
233 |
255 |
3.89e-3 |
SMART |
ZnF_C2H2
|
261 |
283 |
3.58e-2 |
SMART |
ZnF_C2H2
|
289 |
311 |
8.94e-3 |
SMART |
ZnF_C2H2
|
317 |
337 |
9.81e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144796
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147487
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acer3 |
A |
G |
7: 97,866,084 (GRCm39) |
I213T |
probably benign |
Het |
Alox8 |
T |
A |
11: 69,077,455 (GRCm39) |
T432S |
probably damaging |
Het |
Col4a3 |
T |
C |
1: 82,688,515 (GRCm39) |
|
probably benign |
Het |
Cyp2c54 |
A |
G |
19: 40,035,987 (GRCm39) |
Y308H |
possibly damaging |
Het |
Dscam |
A |
G |
16: 96,394,476 (GRCm39) |
V1942A |
probably benign |
Het |
F11 |
T |
C |
8: 45,705,196 (GRCm39) |
Y115C |
probably damaging |
Het |
Fam13b |
A |
G |
18: 34,584,259 (GRCm39) |
|
probably null |
Het |
Gykl1 |
A |
G |
18: 52,827,257 (GRCm39) |
H155R |
probably benign |
Het |
Lmo7 |
T |
A |
14: 102,124,606 (GRCm39) |
V355D |
probably damaging |
Het |
Lrtm2 |
T |
A |
6: 119,297,846 (GRCm39) |
D65V |
possibly damaging |
Het |
Ly6g6f |
C |
T |
17: 35,300,144 (GRCm39) |
V235M |
possibly damaging |
Het |
Mlxipl |
G |
A |
5: 135,152,872 (GRCm39) |
|
probably null |
Het |
Or11j4 |
A |
G |
14: 50,630,257 (GRCm39) |
I15V |
probably benign |
Het |
Or13a20 |
A |
G |
7: 140,232,093 (GRCm39) |
N67S |
probably damaging |
Het |
Or14a256 |
C |
T |
7: 86,265,518 (GRCm39) |
V112I |
probably benign |
Het |
Ppp2r1a |
A |
G |
17: 21,171,702 (GRCm39) |
|
probably benign |
Het |
Psmb2 |
A |
G |
4: 126,603,351 (GRCm39) |
N193S |
probably benign |
Het |
Rassf2 |
A |
T |
2: 131,851,641 (GRCm39) |
Y34N |
possibly damaging |
Het |
Ryr2 |
A |
G |
13: 11,620,075 (GRCm39) |
F3841L |
probably damaging |
Het |
Skint2 |
A |
G |
4: 112,473,792 (GRCm39) |
|
probably benign |
Het |
Spdl1 |
T |
C |
11: 34,704,448 (GRCm39) |
I462V |
probably benign |
Het |
Spopfm1 |
A |
G |
3: 94,173,459 (GRCm39) |
M152V |
probably benign |
Het |
Tlk2 |
A |
G |
11: 105,112,061 (GRCm39) |
E138G |
probably benign |
Het |
Vmn1r89 |
A |
G |
7: 12,954,056 (GRCm39) |
E196G |
probably benign |
Het |
Zfp142 |
A |
G |
1: 74,609,307 (GRCm39) |
L1496P |
probably damaging |
Het |
Zfp944 |
A |
G |
17: 22,558,899 (GRCm39) |
V116A |
probably benign |
Het |
|
Other mutations in Zfp689 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02814:Zfp689
|
APN |
7 |
127,044,193 (GRCm39) |
missense |
possibly damaging |
0.69 |
BB009:Zfp689
|
UTSW |
7 |
127,043,523 (GRCm39) |
missense |
probably damaging |
1.00 |
BB019:Zfp689
|
UTSW |
7 |
127,043,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R1970:Zfp689
|
UTSW |
7 |
127,043,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R2044:Zfp689
|
UTSW |
7 |
127,043,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R4502:Zfp689
|
UTSW |
7 |
127,047,925 (GRCm39) |
missense |
probably benign |
0.03 |
R5307:Zfp689
|
UTSW |
7 |
127,047,987 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5470:Zfp689
|
UTSW |
7 |
127,043,425 (GRCm39) |
missense |
probably damaging |
0.99 |
R5692:Zfp689
|
UTSW |
7 |
127,048,071 (GRCm39) |
start gained |
probably benign |
|
R6380:Zfp689
|
UTSW |
7 |
127,043,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R6476:Zfp689
|
UTSW |
7 |
127,043,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R7538:Zfp689
|
UTSW |
7 |
127,044,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R7598:Zfp689
|
UTSW |
7 |
127,047,840 (GRCm39) |
missense |
probably benign |
0.14 |
R7932:Zfp689
|
UTSW |
7 |
127,043,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R8221:Zfp689
|
UTSW |
7 |
127,043,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R8688:Zfp689
|
UTSW |
7 |
127,044,084 (GRCm39) |
missense |
probably benign |
0.34 |
R8725:Zfp689
|
UTSW |
7 |
127,047,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R9732:Zfp689
|
UTSW |
7 |
127,044,283 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |