Incidental Mutation 'R2473:Zfp414'
| ID |
253243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp414
|
| Ensembl Gene |
ENSMUSG00000073423 |
| Gene Name |
zinc finger protein 414 |
| Synonyms |
0610030H11Rik |
| MMRRC Submission |
040404-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
R2473 (G1)
|
| Quality Score |
126 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
33848066-33850690 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CAAACTCTTCCGA to CAAACTCTTCCGAAACTCTTCCGA
at 33849551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073570]
[ENSMUST00000165504]
[ENSMUST00000166627]
[ENSMUST00000170225]
|
| AlphaFold |
Q9DCK4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073570
|
| SMART Domains |
Protein: ENSMUSP00000073259
Gene: ENSMUSG00000073423
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
95 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
99 |
123 |
1.01e-1 |
SMART |
|
ZnF_C2H2
|
135 |
159 |
7.49e0 |
SMART |
|
ZnF_C2H2
|
166 |
191 |
2.61e1 |
SMART |
|
low complexity region
|
195 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163245
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164636
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165504
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166627
|
| SMART Domains |
Protein: ENSMUSP00000129423
Gene: ENSMUSG00000073423
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
50 |
74 |
1.01e-1 |
SMART |
|
ZnF_C2H2
|
86 |
110 |
7.49e0 |
SMART |
|
ZnF_C2H2
|
117 |
142 |
2.61e1 |
SMART |
|
low complexity region
|
146 |
182 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169781
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170225
|
| SMART Domains |
Protein: ENSMUSP00000127118
Gene: ENSMUSG00000073423
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
50 |
74 |
1.01e-1 |
SMART |
|
ZnF_C2H2
|
86 |
110 |
7.49e0 |
SMART |
|
ZnF_C2H2
|
117 |
142 |
2.61e1 |
SMART |
|
low complexity region
|
146 |
182 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172455
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b4 |
T |
G |
2: 126,200,814 (GRCm39) |
K785Q |
possibly damaging |
Het |
| Cacnb2 |
G |
A |
2: 14,989,125 (GRCm39) |
D402N |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,392,404 (GRCm39) |
I184F |
possibly damaging |
Het |
| Ephb4 |
T |
A |
5: 137,363,962 (GRCm39) |
D611E |
probably benign |
Het |
| Habp2 |
G |
A |
19: 56,276,464 (GRCm39) |
V13M |
possibly damaging |
Het |
| Mamdc4 |
C |
A |
2: 25,456,344 (GRCm39) |
G713V |
probably damaging |
Het |
| Marveld2 |
C |
T |
13: 100,733,829 (GRCm39) |
V269M |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,169,353 (GRCm39) |
M1508K |
probably benign |
Het |
| Mgp |
T |
C |
6: 136,850,162 (GRCm39) |
|
probably null |
Het |
| Mucl2 |
C |
G |
15: 103,927,628 (GRCm39) |
E110Q |
possibly damaging |
Het |
| Mxra8 |
T |
C |
4: 155,926,500 (GRCm39) |
F286S |
probably damaging |
Het |
| Or2t46 |
A |
G |
11: 58,472,401 (GRCm39) |
T244A |
probably damaging |
Het |
| Or4g16 |
T |
C |
2: 111,137,236 (GRCm39) |
S229P |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,146 (GRCm39) |
Y7H |
possibly damaging |
Het |
| Or5p70 |
C |
T |
7: 107,994,711 (GRCm39) |
A128V |
probably damaging |
Het |
| Pax3 |
C |
T |
1: 78,099,227 (GRCm39) |
|
probably null |
Het |
| Polm |
T |
C |
11: 5,779,881 (GRCm39) |
E339G |
possibly damaging |
Het |
| Sec14l4 |
T |
A |
11: 3,993,359 (GRCm39) |
V218E |
probably benign |
Het |
| Sf3b1 |
C |
T |
1: 55,038,785 (GRCm39) |
|
probably null |
Het |
| Six4 |
A |
G |
12: 73,150,949 (GRCm39) |
V532A |
probably benign |
Het |
| Slc35c1 |
T |
A |
2: 92,285,098 (GRCm39) |
D172V |
probably benign |
Het |
| Ttc39a |
A |
T |
4: 109,299,436 (GRCm39) |
I428F |
probably damaging |
Het |
|
| Other mutations in Zfp414 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1277:Zfp414
|
UTSW |
17 |
33,849,449 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1453:Zfp414
|
UTSW |
17 |
33,849,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3697:Zfp414
|
UTSW |
17 |
33,849,551 (GRCm39) |
frame shift |
probably null |
|
|
R4545:Zfp414
|
UTSW |
17 |
33,850,622 (GRCm39) |
unclassified |
probably benign |
|
|
R5610:Zfp414
|
UTSW |
17 |
33,849,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7265:Zfp414
|
UTSW |
17 |
33,850,253 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7836:Zfp414
|
UTSW |
17 |
33,848,962 (GRCm39) |
nonsense |
probably null |
|
|
R9484:Zfp414
|
UTSW |
17 |
33,848,984 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGTGTTCGTGATCTAGC -3'
(R):5'- ACCACGGCATGTATACCCTG -3'
Sequencing Primer
(F):5'- CAGTGTTCGTGATCTAGCACAGC -3'
(R):5'- GCCAGAATGACTTAATTCCCATCTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation