Incidental Mutation 'R2188:Zfp583'
| ID |
237921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp583
|
| Ensembl Gene |
ENSMUSG00000030443 |
| Gene Name |
zinc finger protein 583 |
| Synonyms |
|
| MMRRC Submission |
040190-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R2188 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
6318659-6334284 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 6320610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 134
(R134H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062765]
[ENSMUST00000108560]
[ENSMUST00000165705]
|
| AlphaFold |
Q3V080 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062765
AA Change: R134H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000053935
Gene: ENSMUSG00000030443
AA Change: R134H
| 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 |
probably benign
Transcript: ENSMUST00000108560
AA Change: R134H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104200
Gene: ENSMUSG00000030443
AA Change: R134H
| 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 |
probably benign
Transcript: ENSMUST00000165705
AA Change: R134H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129551
Gene: ENSMUSG00000030443
AA Change: R134H
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,838,367 (GRCm39) |
L547P |
probably damaging |
Het |
| Arhgap29 |
A |
C |
3: 121,784,658 (GRCm39) |
D195A |
probably damaging |
Het |
| Atad3a |
A |
T |
4: 155,835,976 (GRCm39) |
I274N |
probably damaging |
Het |
| Ccdc12 |
G |
T |
9: 110,485,699 (GRCm39) |
K23N |
possibly damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,920,388 (GRCm39) |
T668A |
probably benign |
Het |
| Cdc34b |
T |
C |
11: 94,632,998 (GRCm39) |
I66T |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,001,121 (GRCm39) |
I2408T |
probably damaging |
Het |
| Fam91a1 |
A |
C |
15: 58,302,512 (GRCm39) |
N284T |
probably damaging |
Het |
| Gbp2b |
A |
T |
3: 142,314,040 (GRCm39) |
E440V |
probably benign |
Het |
| Gm5134 |
T |
C |
10: 75,831,670 (GRCm39) |
S370P |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,309,947 (GRCm39) |
A3238T |
probably benign |
Het |
| Hmg20a |
A |
G |
9: 56,384,584 (GRCm39) |
E118G |
possibly damaging |
Het |
| Itprid2 |
T |
C |
2: 79,475,267 (GRCm39) |
S409P |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,383,601 (GRCm39) |
F781I |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,737,181 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,298,971 (GRCm39) |
T857A |
probably benign |
Het |
| Mucl2 |
T |
A |
15: 103,927,840 (GRCm39) |
N39I |
probably damaging |
Het |
| Myl6 |
A |
G |
10: 128,328,566 (GRCm39) |
I27T |
possibly damaging |
Het |
| Ndor1 |
A |
T |
2: 25,141,765 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
A |
G |
7: 26,264,354 (GRCm39) |
E758G |
probably damaging |
Het |
| Or52h7 |
G |
A |
7: 104,213,883 (GRCm39) |
A152T |
probably benign |
Het |
| Or8u8 |
A |
T |
2: 86,011,780 (GRCm39) |
I225N |
probably damaging |
Het |
| Parp3 |
G |
A |
9: 106,353,051 (GRCm39) |
R42W |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,798,600 (GRCm39) |
I495V |
probably damaging |
Het |
| Qrfprl |
C |
A |
6: 65,418,260 (GRCm39) |
H143N |
probably damaging |
Het |
| Sdsl |
C |
T |
5: 120,596,485 (GRCm39) |
G310S |
probably damaging |
Het |
| Sec24a |
A |
G |
11: 51,614,411 (GRCm39) |
L531P |
probably damaging |
Het |
| Slc2a12 |
C |
T |
10: 22,540,736 (GRCm39) |
S197F |
probably benign |
Het |
| Snapc1 |
T |
A |
12: 74,017,001 (GRCm39) |
I213N |
probably damaging |
Het |
| Srpk1 |
A |
T |
17: 28,813,163 (GRCm39) |
I527N |
probably damaging |
Het |
| Steap2 |
G |
T |
5: 5,723,643 (GRCm39) |
Y412* |
probably null |
Het |
| Tbk1 |
A |
C |
10: 121,399,836 (GRCm39) |
Y329* |
probably null |
Het |
| Tekt5 |
T |
C |
16: 10,176,189 (GRCm39) |
E452G |
probably damaging |
Het |
| Tmc5 |
G |
T |
7: 118,254,178 (GRCm39) |
C672F |
probably damaging |
Het |
| Trim27 |
T |
C |
13: 21,367,987 (GRCm39) |
L201S |
probably damaging |
Het |
| Vil1 |
A |
C |
1: 74,466,724 (GRCm39) |
D638A |
probably benign |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
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 |
|
IGL01921:Zfp583
|
APN |
7 |
6,328,569 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1593:Zfp583
|
UTSW |
7 |
6,320,008 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAACTTCTCTTTTGTGGCTCAC -3'
(R):5'- TGAGCACTTTCTTTTCTTCTTATGAA -3'
Sequencing Primer
(F):5'- TGTGGCTCACTCTGATCTATTC -3'
(R):5'- TTCTTGGTATCTTTTAGATTGGCAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation