Incidental Mutation 'R9730:Zfp30'
| ID |
736013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp30
|
| Ensembl Gene |
ENSMUSG00000047473 |
| Gene Name |
zinc finger protein 30 |
| Synonyms |
Zfp-30, 2610306P15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R9730 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
29483423-29494127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29492139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 212
(E212G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032803
(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: E212G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032803
Gene: ENSMUSG00000047473
AA Change: E212G
| 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: E131G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113426
Gene: ENSMUSG00000047473
AA Change: E131G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
G |
A |
17: 45,829,534 (GRCm39) |
R807Q |
probably benign |
Het |
| Alms1 |
G |
A |
6: 85,606,420 (GRCm39) |
R2221Q |
probably benign |
Het |
| Alox12 |
C |
T |
11: 70,140,920 (GRCm39) |
A372T |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,019,493 (GRCm39) |
M2V |
|
Het |
| Cdon |
A |
G |
9: 35,398,263 (GRCm39) |
I993M |
probably benign |
Het |
| Chil5 |
T |
C |
3: 105,926,470 (GRCm39) |
T120A |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,632,979 (GRCm39) |
H157R |
probably damaging |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cyp39a1 |
A |
G |
17: 43,991,029 (GRCm39) |
N113D |
probably benign |
Het |
| Dact3 |
A |
G |
7: 16,609,540 (GRCm39) |
E64G |
possibly damaging |
Het |
| Dennd3 |
A |
G |
15: 73,426,959 (GRCm39) |
K779E |
probably damaging |
Het |
| Etnppl |
C |
T |
3: 130,415,958 (GRCm39) |
A115V |
probably damaging |
Het |
| Exoc6 |
C |
T |
19: 37,588,032 (GRCm39) |
T555I |
probably benign |
Het |
| Fbxw11 |
A |
G |
11: 32,688,395 (GRCm39) |
T419A |
probably damaging |
Het |
| Hcn4 |
G |
T |
9: 58,731,493 (GRCm39) |
M233I |
unknown |
Het |
| Hgfac |
T |
C |
5: 35,204,282 (GRCm39) |
V515A |
probably damaging |
Het |
| Hikeshi |
T |
C |
7: 89,569,371 (GRCm39) |
Y150C |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,839,423 (GRCm39) |
Y645C |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,401,124 (GRCm39) |
I521T |
possibly damaging |
Het |
| Ldhal6b |
A |
G |
17: 5,468,094 (GRCm39) |
V280A |
possibly damaging |
Het |
| Map1s |
C |
T |
8: 71,369,178 (GRCm39) |
A909V |
possibly damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Or5b106 |
T |
A |
19: 13,123,747 (GRCm39) |
Y92F |
possibly damaging |
Het |
| Plaa |
G |
A |
4: 94,466,660 (GRCm39) |
P484S |
probably benign |
Het |
| Ppp1r3a |
G |
T |
6: 14,721,923 (GRCm39) |
A301D |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 142,858,659 (GRCm39) |
S1544P |
possibly damaging |
Het |
| Scara3 |
A |
G |
14: 66,168,261 (GRCm39) |
V452A |
probably damaging |
Het |
| Slc12a9 |
T |
A |
5: 137,325,732 (GRCm39) |
D293V |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,783,004 (GRCm39) |
N1101S |
unknown |
Het |
| Spocd1 |
A |
G |
4: 129,850,305 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,757,552 (GRCm39) |
D865E |
probably damaging |
Het |
| Trim21 |
T |
C |
7: 102,213,247 (GRCm39) |
D17G |
probably benign |
Het |
| Try4 |
A |
T |
6: 41,281,996 (GRCm39) |
D194V |
probably damaging |
Het |
| Zfp445 |
A |
C |
9: 122,681,490 (GRCm39) |
I817R |
probably damaging |
Het |
| Zfp534 |
A |
T |
4: 147,759,378 (GRCm39) |
H430Q |
probably 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 |
|
R3696:Zfp30
|
UTSW |
7 |
29,492,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- ATCTCCGTGGGAAATAATGGG -3'
(R):5'- TTACAATCGTAGGGCTTCTCG -3'
Sequencing Primer
(F):5'- CTCATAGGGTATATTTCAGACACGTG -3'
(R):5'- GCCCACGTGAGACCTCTGATG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation