Incidental Mutation 'R3723:Zfp30'
| ID |
270628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp30
|
| Ensembl Gene |
ENSMUSG00000047473 |
| Gene Name |
zinc finger protein 30 |
| Synonyms |
Zfp-30, 2610306P15Rik |
| MMRRC Submission |
040714-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R3723 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29483423-29494127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29492778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 344
(E344G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032803]
[ENSMUST00000122387]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032803
AA Change: E425G
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032803
Gene: ENSMUSG00000047473
AA Change: E425G
| 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: E344G
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113426
Gene: ENSMUSG00000047473
AA Change: E344G
| 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 |
0.1085 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
95% (38/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,994,217 (GRCm39) |
V5167A |
possibly damaging |
Het |
| Ano5 |
A |
G |
7: 51,226,276 (GRCm39) |
Y510C |
probably damaging |
Het |
| Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,056,327 (GRCm39) |
Q1570L |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,061,763 (GRCm39) |
N3415S |
possibly damaging |
Het |
| Arsk |
T |
A |
13: 76,214,772 (GRCm39) |
I361F |
probably damaging |
Het |
| C9 |
G |
A |
15: 6,512,561 (GRCm39) |
E228K |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,304,731 (GRCm39) |
|
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,492,640 (GRCm39) |
I455V |
probably benign |
Het |
| Ckap4 |
A |
G |
10: 84,364,256 (GRCm39) |
L269P |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,486,505 (GRCm39) |
D3352V |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,041,658 (GRCm39) |
M3335K |
probably benign |
Het |
| Fam171a1 |
A |
G |
2: 3,221,412 (GRCm39) |
|
probably benign |
Het |
| Glis3 |
A |
T |
19: 28,239,991 (GRCm39) |
C97* |
probably null |
Het |
| Gm14221 |
C |
G |
2: 160,410,347 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8603 |
A |
C |
17: 13,737,075 (GRCm39) |
|
probably null |
Het |
| Gm9767 |
G |
T |
10: 25,954,469 (GRCm39) |
|
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,391,912 (GRCm39) |
T167A |
possibly damaging |
Het |
| Kif18b |
A |
G |
11: 102,807,102 (GRCm39) |
F78L |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,526,058 (GRCm39) |
|
probably null |
Het |
| Mipol1 |
C |
A |
12: 57,503,878 (GRCm39) |
L349I |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,803,374 (GRCm39) |
V1527A |
probably damaging |
Het |
| Naip5 |
G |
T |
13: 100,359,522 (GRCm39) |
Y571* |
probably null |
Het |
| Npl |
A |
G |
1: 153,391,210 (GRCm39) |
F182L |
probably benign |
Het |
| Pan3 |
T |
A |
5: 147,440,018 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,481,680 (GRCm39) |
T342S |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,796,045 (GRCm39) |
T350A |
possibly damaging |
Het |
| Pramel28 |
T |
C |
4: 143,693,251 (GRCm39) |
T76A |
probably benign |
Het |
| Prdm4 |
A |
G |
10: 85,735,145 (GRCm39) |
S666P |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,553,252 (GRCm39) |
E148G |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,407,613 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,087,335 (GRCm39) |
S1035P |
possibly damaging |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Supt3 |
A |
G |
17: 45,305,274 (GRCm39) |
D108G |
probably damaging |
Het |
| Tnfsf13b |
A |
G |
8: 10,081,545 (GRCm39) |
I236V |
possibly damaging |
Het |
| Tns1 |
T |
C |
1: 73,964,099 (GRCm39) |
S1511G |
probably damaging |
Het |
| Tpm1 |
G |
A |
9: 66,939,227 (GRCm39) |
|
probably benign |
Het |
| Uba6 |
T |
C |
5: 86,282,906 (GRCm39) |
D559G |
probably damaging |
Het |
| Vmn1r117 |
T |
A |
7: 20,617,380 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn2r91 |
G |
A |
17: 18,305,540 (GRCm39) |
|
probably null |
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 |
|
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'- TACGACTGCAAGGAGTGTGG -3'
(R):5'- TGCAAGGCAAGGATTCGTAG -3'
Sequencing Primer
(F):5'- AAGGCGTTCCGGGTGAG -3'
(R):5'- GTTGACGGAAGGCCTTCTTACAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation