Incidental Mutation 'R3696:Zfp30'
| ID |
269820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp30
|
| Ensembl Gene |
ENSMUSG00000047473 |
| Gene Name |
zinc finger protein 30 |
| Synonyms |
Zfp-30, 2610306P15Rik |
| MMRRC Submission |
040690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R3696 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29483423-29494127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29492815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 356
(K356N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032803]
[ENSMUST00000122387]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032803
AA Change: K437N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032803
Gene: ENSMUSG00000047473
AA Change: K437N
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
21 |
82 |
4.61e-37 |
SMART |
|
ZnF_C2H2
|
187 |
209 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
215 |
237 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
243 |
265 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
271 |
293 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
299 |
319 |
3.72e0 |
SMART |
|
ZnF_C2H2
|
327 |
349 |
3.24e0 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
383 |
405 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
411 |
433 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
439 |
461 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
467 |
489 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
495 |
517 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
523 |
545 |
6.78e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122387
AA Change: K356N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113426
Gene: ENSMUSG00000047473
AA Change: K356N
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
106 |
128 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
134 |
156 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
162 |
184 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
190 |
212 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
218 |
238 |
3.72e0 |
SMART |
|
ZnF_C2H2
|
246 |
268 |
3.24e0 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
6.78e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126504
|
| Meta Mutation Damage Score |
0.6491 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh4a1 |
A |
G |
4: 139,369,562 (GRCm39) |
H371R |
possibly damaging |
Het |
| Anapc4 |
A |
G |
5: 53,019,351 (GRCm39) |
S562G |
probably null |
Het |
| Arfgef2 |
T |
A |
2: 166,695,220 (GRCm39) |
L531* |
probably null |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,033,552 (GRCm39) |
M1010V |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,527,724 (GRCm39) |
E126G |
probably damaging |
Het |
| Ckap5 |
C |
A |
2: 91,450,511 (GRCm39) |
T2014K |
probably benign |
Het |
| Dlat |
C |
T |
9: 50,562,176 (GRCm39) |
V283I |
possibly damaging |
Het |
| Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
| Ephx1 |
G |
A |
1: 180,817,516 (GRCm39) |
S385L |
probably benign |
Het |
| Ermard |
T |
C |
17: 15,273,638 (GRCm39) |
S408P |
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,806,473 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
C |
8: 111,329,911 (GRCm39) |
S4882P |
probably damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Il6st |
T |
G |
13: 112,640,916 (GRCm39) |
D897E |
probably benign |
Het |
| Ipo5 |
A |
C |
14: 121,159,574 (GRCm39) |
K134T |
probably benign |
Het |
| Itgb8 |
A |
G |
12: 119,140,746 (GRCm39) |
V377A |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,572,532 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
T |
G |
4: 123,350,155 (GRCm39) |
T2027P |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,235,870 (GRCm39) |
I678L |
possibly damaging |
Het |
| Nfu1 |
A |
G |
6: 86,992,634 (GRCm39) |
T83A |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
| Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,360 (GRCm39) |
T103A |
probably benign |
Het |
| Prm3 |
T |
C |
16: 10,608,672 (GRCm39) |
M28V |
possibly damaging |
Het |
| Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Septin4 |
A |
T |
11: 87,476,060 (GRCm39) |
T212S |
possibly damaging |
Het |
| Trdn |
T |
A |
10: 33,181,028 (GRCm39) |
|
probably null |
Het |
| Trim2 |
T |
A |
3: 84,098,158 (GRCm39) |
Y390F |
probably benign |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,523 (GRCm39) |
I232F |
possibly damaging |
Het |
|
| Other mutations in Zfp30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
elo
|
UTSW |
7 |
29,492,491 (GRCm39) |
nonsense |
probably null |
|
|
R0022:Zfp30
|
UTSW |
7 |
29,491,860 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0218:Zfp30
|
UTSW |
7 |
29,493,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0349:Zfp30
|
UTSW |
7 |
29,493,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0537:Zfp30
|
UTSW |
7 |
29,492,160 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0653:Zfp30
|
UTSW |
7 |
29,492,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Zfp30
|
UTSW |
7 |
29,492,805 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1966:Zfp30
|
UTSW |
7 |
29,491,877 (GRCm39) |
missense |
probably benign |
|
|
R2100:Zfp30
|
UTSW |
7 |
29,492,951 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3723:Zfp30
|
UTSW |
7 |
29,492,778 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4571:Zfp30
|
UTSW |
7 |
29,492,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5027:Zfp30
|
UTSW |
7 |
29,492,491 (GRCm39) |
nonsense |
probably null |
|
|
R5070:Zfp30
|
UTSW |
7 |
29,485,691 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6013:Zfp30
|
UTSW |
7 |
29,488,846 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7274:Zfp30
|
UTSW |
7 |
29,492,043 (GRCm39) |
missense |
probably benign |
|
|
R7484:Zfp30
|
UTSW |
7 |
29,492,231 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8181:Zfp30
|
UTSW |
7 |
29,493,080 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8255:Zfp30
|
UTSW |
7 |
29,488,826 (GRCm39) |
missense |
probably benign |
|
|
R9730:Zfp30
|
UTSW |
7 |
29,492,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Zfp30
|
UTSW |
7 |
29,492,004 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp30
|
UTSW |
7 |
29,491,932 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp30
|
UTSW |
7 |
29,491,902 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1186:Zfp30
|
UTSW |
7 |
29,492,196 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1186:Zfp30
|
UTSW |
7 |
29,492,021 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGCCCTTCGACTGCAAG -3'
(R):5'- TGCAAGGCAAGGATTCGTAG -3'
Sequencing Primer
(F):5'- CCTTCGACTGCAAGGAGTG -3'
(R):5'- GTTGACGGAAGGCCTTCTTACAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation