Incidental Mutation 'IGL01667:Zfp799'
| ID |
103340 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp799
|
| Ensembl Gene |
ENSMUSG00000095253 |
| Gene Name |
zinc finger protein 799 |
| Synonyms |
6030490I01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
IGL01667
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
33034423-33049235 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33040794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 52
(Q52R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179695]
[ENSMUST00000201499]
[ENSMUST00000201876]
[ENSMUST00000202759]
[ENSMUST00000202988]
|
| AlphaFold |
Q8BHK4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179695
AA Change: Q49R
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000136298
Gene: ENSMUSG00000095253
AA Change: Q49R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
3 |
60 |
1.22e-9 |
SMART |
|
low complexity region
|
97 |
110 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
194 |
216 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
222 |
244 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
250 |
272 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
278 |
300 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
306 |
328 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
334 |
356 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
360 |
382 |
4.34e-1 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
444 |
466 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
472 |
494 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
500 |
522 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
528 |
550 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
556 |
578 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
584 |
606 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
612 |
634 |
4.47e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201499
AA Change: Q50R
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143907
Gene: ENSMUSG00000095253
AA Change: Q50R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
61 |
1.22e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201876
AA Change: Q50R
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144187
Gene: ENSMUSG00000095253
AA Change: Q50R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
61 |
5.3e-12 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202759
AA Change: Q52R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000144087
Gene: ENSMUSG00000095253
AA Change: Q52R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
63 |
5.6e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202988
AA Change: Q50R
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000144480
Gene: ENSMUSG00000095253
AA Change: Q50R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
61 |
1.22e-9 |
SMART |
|
low complexity region
|
98 |
111 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
195 |
217 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
223 |
245 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
251 |
273 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
279 |
301 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
307 |
329 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
335 |
357 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
4.34e-1 |
SMART |
|
ZnF_C2H2
|
389 |
411 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
417 |
439 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
445 |
467 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
473 |
495 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
501 |
523 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
529 |
551 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
557 |
579 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
585 |
607 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
613 |
635 |
4.47e-3 |
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 |
|---|
| 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 |
| Zfp692 |
A |
G |
11: 58,202,379 (GRCm39) |
H378R |
probably damaging |
Het |
|
| Other mutations in Zfp799 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
P0016:Zfp799
|
UTSW |
17 |
33,038,331 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0116:Zfp799
|
UTSW |
17 |
33,040,009 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0326:Zfp799
|
UTSW |
17 |
33,039,700 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1487:Zfp799
|
UTSW |
17 |
33,039,651 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1863:Zfp799
|
UTSW |
17 |
33,038,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Zfp799
|
UTSW |
17 |
33,040,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1983:Zfp799
|
UTSW |
17 |
33,041,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2127:Zfp799
|
UTSW |
17 |
33,038,472 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2271:Zfp799
|
UTSW |
17 |
33,040,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2697:Zfp799
|
UTSW |
17 |
33,039,214 (GRCm39) |
nonsense |
probably null |
|
|
R5134:Zfp799
|
UTSW |
17 |
33,039,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5613:Zfp799
|
UTSW |
17 |
33,038,964 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5839:Zfp799
|
UTSW |
17 |
33,041,086 (GRCm39) |
missense |
probably null |
0.99 |
|
R6389:Zfp799
|
UTSW |
17 |
33,039,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6414:Zfp799
|
UTSW |
17 |
33,039,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6475:Zfp799
|
UTSW |
17 |
33,039,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6593:Zfp799
|
UTSW |
17 |
33,038,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7133:Zfp799
|
UTSW |
17 |
33,039,210 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7543:Zfp799
|
UTSW |
17 |
33,039,534 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7883:Zfp799
|
UTSW |
17 |
33,039,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7889:Zfp799
|
UTSW |
17 |
33,038,473 (GRCm39) |
nonsense |
probably null |
|
|
R8090:Zfp799
|
UTSW |
17 |
33,039,949 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8726:Zfp799
|
UTSW |
17 |
33,039,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8899:Zfp799
|
UTSW |
17 |
33,039,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9030:Zfp799
|
UTSW |
17 |
33,039,565 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9052:Zfp799
|
UTSW |
17 |
33,039,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9310:Zfp799
|
UTSW |
17 |
33,039,733 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9430:Zfp799
|
UTSW |
17 |
33,039,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9643:Zfp799
|
UTSW |
17 |
33,039,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Zfp799
|
UTSW |
17 |
33,039,190 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Zfp799
|
UTSW |
17 |
33,049,195 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Zfp799
|
UTSW |
17 |
33,049,193 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation