Incidental Mutation 'IGL01921:Zfp583'
| ID |
180089 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp583
|
| Ensembl Gene |
ENSMUSG00000030443 |
| Gene Name |
zinc finger protein 583 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
IGL01921
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
6318659-6334284 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6328569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 7
(T7A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062765]
[ENSMUST00000108560]
[ENSMUST00000127658]
[ENSMUST00000165705]
|
| AlphaFold |
Q3V080 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062765
AA Change: T7A
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000053935
Gene: ENSMUSG00000030443
AA Change: T7A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
66 |
7.45e-32 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
267 |
289 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
295 |
317 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
323 |
345 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
351 |
373 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
379 |
401 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
407 |
429 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
435 |
457 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
463 |
485 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
491 |
513 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
519 |
541 |
1.36e-2 |
SMART |
|
low complexity region
|
545 |
561 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108560
AA Change: T7A
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104200
Gene: ENSMUSG00000030443
AA Change: T7A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
66 |
7.45e-32 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
267 |
289 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
295 |
317 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
323 |
345 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
351 |
373 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
379 |
401 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
407 |
429 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
435 |
457 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
463 |
485 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
491 |
513 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
519 |
541 |
1.36e-2 |
SMART |
|
low complexity region
|
545 |
561 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123868
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127658
AA Change: T7A
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118249
Gene: ENSMUSG00000030443
AA Change: T7A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
66 |
7.45e-32 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135435
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165705
AA Change: T7A
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129551
Gene: ENSMUSG00000030443
AA Change: T7A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
66 |
7.45e-32 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
267 |
289 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
295 |
317 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
323 |
345 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
351 |
373 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
379 |
401 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
407 |
429 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
435 |
457 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
463 |
485 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
491 |
513 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
519 |
541 |
1.36e-2 |
SMART |
|
low complexity region
|
545 |
561 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
C |
A |
8: 44,078,548 (GRCm39) |
V559L |
probably damaging |
Het |
| Agtpbp1 |
T |
C |
13: 59,660,297 (GRCm39) |
T310A |
possibly damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,640,019 (GRCm39) |
T92A |
probably damaging |
Het |
| Ciao1 |
C |
T |
2: 127,084,755 (GRCm39) |
V328I |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,557,299 (GRCm39) |
Q1943L |
possibly damaging |
Het |
| Diaph1 |
T |
C |
18: 37,989,261 (GRCm39) |
D898G |
possibly damaging |
Het |
| Dio3 |
A |
T |
12: 110,245,789 (GRCm39) |
T42S |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,955,115 (GRCm39) |
I2048N |
probably benign |
Het |
| Egr2 |
T |
A |
10: 67,376,208 (GRCm39) |
|
probably null |
Het |
| Epc2 |
T |
A |
2: 49,422,209 (GRCm39) |
Y368N |
probably damaging |
Het |
| Furin |
A |
G |
7: 80,045,702 (GRCm39) |
|
probably benign |
Het |
| Gga1 |
T |
C |
15: 78,777,995 (GRCm39) |
M620T |
possibly damaging |
Het |
| Gm21976 |
T |
A |
13: 98,441,829 (GRCm39) |
Y45* |
probably null |
Het |
| Gpn1 |
T |
C |
5: 31,656,612 (GRCm39) |
V105A |
probably damaging |
Het |
| Hoxb8 |
A |
T |
11: 96,175,181 (GRCm39) |
N206I |
probably damaging |
Het |
| Kif15 |
T |
A |
9: 122,808,569 (GRCm39) |
L67Q |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,433,989 (GRCm39) |
|
probably benign |
Het |
| Mat1a |
T |
C |
14: 40,836,292 (GRCm39) |
|
probably benign |
Het |
| Mkrn1 |
T |
C |
6: 39,382,847 (GRCm39) |
D99G |
possibly damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,048,474 (GRCm39) |
Y645C |
possibly damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,799,671 (GRCm39) |
V702A |
probably benign |
Het |
| Ppp4r4 |
G |
T |
12: 103,542,569 (GRCm39) |
M1I |
probably null |
Het |
| Prss21 |
T |
A |
17: 24,091,414 (GRCm39) |
M217K |
possibly damaging |
Het |
| R3hcc1l |
A |
G |
19: 42,552,220 (GRCm39) |
S406G |
possibly damaging |
Het |
| Rfesd |
T |
C |
13: 76,156,385 (GRCm39) |
E7G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,544,565 (GRCm39) |
E694G |
possibly damaging |
Het |
| Rlf |
T |
C |
4: 121,003,943 (GRCm39) |
D1679G |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,569,436 (GRCm39) |
C4956Y |
possibly damaging |
Het |
| Scart1 |
G |
T |
7: 139,808,632 (GRCm39) |
E848* |
probably null |
Het |
| Uri1 |
T |
A |
7: 37,681,072 (GRCm39) |
K111* |
probably null |
Het |
| Usf1 |
A |
G |
1: 171,244,424 (GRCm39) |
E108G |
possibly damaging |
Het |
| Vmn1r71 |
C |
A |
7: 10,482,199 (GRCm39) |
R163L |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r86 |
T |
C |
10: 130,291,610 (GRCm39) |
T52A |
probably benign |
Het |
| Washc5 |
A |
T |
15: 59,213,958 (GRCm39) |
|
probably null |
Het |
| Zim1 |
T |
G |
7: 6,685,184 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zfp583 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Zfp583
|
APN |
7 |
6,320,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1593:Zfp583
|
UTSW |
7 |
6,320,008 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2188:Zfp583
|
UTSW |
7 |
6,320,610 (GRCm39) |
missense |
probably benign |
|
|
R4377:Zfp583
|
UTSW |
7 |
6,320,680 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5000:Zfp583
|
UTSW |
7 |
6,328,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5031:Zfp583
|
UTSW |
7 |
6,320,397 (GRCm39) |
missense |
probably benign |
|
|
R5723:Zfp583
|
UTSW |
7 |
6,326,674 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6603:Zfp583
|
UTSW |
7 |
6,328,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Zfp583
|
UTSW |
7 |
6,319,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7391:Zfp583
|
UTSW |
7 |
6,319,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7673:Zfp583
|
UTSW |
7 |
6,320,009 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8035:Zfp583
|
UTSW |
7 |
6,319,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8127:Zfp583
|
UTSW |
7 |
6,326,821 (GRCm39) |
splice site |
probably null |
|
|
R8331:Zfp583
|
UTSW |
7 |
6,320,554 (GRCm39) |
missense |
probably benign |
|
|
R8732:Zfp583
|
UTSW |
7 |
6,320,210 (GRCm39) |
nonsense |
probably null |
|
|
R8748:Zfp583
|
UTSW |
7 |
6,319,419 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9011:Zfp583
|
UTSW |
7 |
6,319,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:Zfp583
|
UTSW |
7 |
6,320,404 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9038:Zfp583
|
UTSW |
7 |
6,319,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9075:Zfp583
|
UTSW |
7 |
6,319,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9346:Zfp583
|
UTSW |
7 |
6,328,542 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9652:Zfp583
|
UTSW |
7 |
6,320,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF024:Zfp583
|
UTSW |
7 |
6,319,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation