Incidental Mutation 'R6680:Zfp579'
| ID |
527448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp579
|
| Ensembl Gene |
ENSMUSG00000051550 |
| Gene Name |
zinc finger protein 579 |
| Synonyms |
1110003A17Rik |
| MMRRC Submission |
044799-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6680 (G1)
|
| Quality Score |
211.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4995851-4999100 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4996501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 470
(L470P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108572]
[ENSMUST00000162502]
[ENSMUST00000162731]
|
| AlphaFold |
Q80VM4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108572
AA Change: L470P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104212
Gene: ENSMUSG00000051550
AA Change: L470P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
16 |
44 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
46 |
68 |
8.09e-1 |
SMART |
|
ZnF_C2H2
|
74 |
96 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
102 |
125 |
3.83e-2 |
SMART |
|
low complexity region
|
157 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
262 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
267 |
289 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
295 |
317 |
5.14e-3 |
SMART |
|
low complexity region
|
318 |
368 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
382 |
404 |
4.34e0 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
439 |
461 |
1.92e-2 |
SMART |
|
low complexity region
|
462 |
492 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
525 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160808
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162502
|
| SMART Domains |
Protein: ENSMUSP00000124074
Gene: ENSMUSG00000051550
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
16 |
44 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
46 |
68 |
8.09e-1 |
SMART |
|
ZnF_C2H2
|
74 |
96 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
102 |
125 |
3.83e-2 |
SMART |
|
low complexity region
|
157 |
170 |
N/A |
INTRINSIC |
|
coiled coil region
|
190 |
213 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162731
AA Change: L470P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123963
Gene: ENSMUSG00000051550
AA Change: L470P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
16 |
44 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
46 |
68 |
8.09e-1 |
SMART |
|
ZnF_C2H2
|
74 |
96 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
102 |
125 |
3.83e-2 |
SMART |
|
low complexity region
|
157 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
262 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
267 |
289 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
295 |
317 |
5.14e-3 |
SMART |
|
low complexity region
|
318 |
368 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
382 |
404 |
4.34e0 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
439 |
461 |
1.92e-2 |
SMART |
|
low complexity region
|
462 |
492 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
525 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2928 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
A |
G |
17: 56,098,959 (GRCm39) |
K155R |
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 96,967,117 (GRCm39) |
|
probably null |
Het |
| AW011738 |
A |
G |
4: 156,288,182 (GRCm39) |
|
probably benign |
Het |
| Btnl12 |
T |
C |
16: 37,676,536 (GRCm39) |
D77G |
probably benign |
Het |
| Ccl3 |
A |
G |
11: 83,539,132 (GRCm39) |
S76P |
probably benign |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,179,857 (GRCm39) |
L286P |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,201,684 (GRCm39) |
Y463* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,395,949 (GRCm39) |
T1915A |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,293,048 (GRCm39) |
Q4162R |
probably benign |
Het |
| Krt87 |
C |
T |
15: 101,331,859 (GRCm39) |
R293H |
probably damaging |
Het |
| Mipep |
A |
G |
14: 61,025,672 (GRCm39) |
I143V |
possibly damaging |
Het |
| Mrc2 |
C |
T |
11: 105,216,579 (GRCm39) |
R123C |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,824,540 (GRCm39) |
K223R |
probably null |
Het |
| Nudt16l2 |
A |
G |
9: 105,020,773 (GRCm39) |
S163P |
probably damaging |
Het |
| Nuf2 |
A |
C |
1: 169,342,578 (GRCm39) |
|
probably null |
Het |
| Omd |
T |
C |
13: 49,743,004 (GRCm39) |
V18A |
possibly damaging |
Het |
| Or51a39 |
T |
A |
7: 102,363,522 (GRCm39) |
I33F |
possibly damaging |
Het |
| Or8g21 |
T |
C |
9: 38,905,954 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or8k53 |
T |
A |
2: 86,177,589 (GRCm39) |
I174F |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,974,603 (GRCm39) |
S1384G |
probably damaging |
Het |
| Slc22a28 |
A |
G |
19: 8,078,757 (GRCm39) |
S311P |
probably benign |
Het |
| Sox6 |
C |
T |
7: 115,076,218 (GRCm39) |
E765K |
possibly damaging |
Het |
| Tas2r106 |
A |
T |
6: 131,655,437 (GRCm39) |
I138K |
probably damaging |
Het |
| Tbx15 |
T |
A |
3: 99,220,389 (GRCm39) |
Y54* |
probably null |
Het |
| Tulp4 |
T |
G |
17: 6,189,312 (GRCm39) |
W45G |
probably damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,370,154 (GRCm39) |
Y433H |
probably damaging |
Het |
| Usp13 |
T |
C |
3: 32,935,618 (GRCm39) |
V348A |
probably damaging |
Het |
| Vezf1 |
T |
C |
11: 87,972,410 (GRCm39) |
I439T |
probably benign |
Het |
| Vmn2r93 |
C |
A |
17: 18,536,920 (GRCm39) |
Y534* |
probably null |
Het |
| Zfp598 |
A |
G |
17: 24,897,660 (GRCm39) |
N327S |
probably benign |
Het |
| Zscan4d |
A |
T |
7: 10,896,366 (GRCm39) |
S335T |
possibly damaging |
Het |
|
| Other mutations in Zfp579 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00971:Zfp579
|
APN |
7 |
4,996,390 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01121:Zfp579
|
APN |
7 |
4,996,246 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL01475:Zfp579
|
APN |
7 |
4,997,743 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01866:Zfp579
|
APN |
7 |
4,997,257 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02284:Zfp579
|
APN |
7 |
4,997,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02313:Zfp579
|
APN |
7 |
4,997,432 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1803:Zfp579
|
UTSW |
7 |
4,996,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Zfp579
|
UTSW |
7 |
4,996,520 (GRCm39) |
nonsense |
probably null |
|
|
R2026:Zfp579
|
UTSW |
7 |
4,996,520 (GRCm39) |
nonsense |
probably null |
|
|
R2027:Zfp579
|
UTSW |
7 |
4,996,520 (GRCm39) |
nonsense |
probably null |
|
|
R3690:Zfp579
|
UTSW |
7 |
4,997,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4303:Zfp579
|
UTSW |
7 |
4,996,072 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6826:Zfp579
|
UTSW |
7 |
4,997,425 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6869:Zfp579
|
UTSW |
7 |
4,997,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7304:Zfp579
|
UTSW |
7 |
4,997,582 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8220:Zfp579
|
UTSW |
7 |
4,996,850 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8328:Zfp579
|
UTSW |
7 |
4,997,866 (GRCm39) |
missense |
unknown |
|
|
X0028:Zfp579
|
UTSW |
7 |
4,996,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGTGGGCCTTACTGTCCATC -3'
(R):5'- TGCCAGAGGGAATTCAAGCG -3'
Sequencing Primer
(F):5'- TCCATCTCGAAGGCTGAATG -3'
(R):5'- GGGAATTCAAGCGACTGGC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation