Incidental Mutation 'R3948:Zfp248'
| ID |
307784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp248
|
| Ensembl Gene |
ENSMUSG00000030145 |
| Gene Name |
zinc finger protein 248 |
| Synonyms |
2810037F07Rik, E130106N01Rik |
| MMRRC Submission |
040928-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R3948 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
118404280-118432489 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TTAAATTCAT to TT
at 118407155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069292]
[ENSMUST00000159403]
[ENSMUST00000161519]
|
| AlphaFold |
Q640N4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069292
|
| SMART Domains |
Protein: ENSMUSP00000068807
Gene: ENSMUSG00000030145
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
2.4e-35 |
SMART |
|
internal_repeat_1
|
209 |
375 |
2.52e-18 |
PROSPERO |
|
ZnF_C2H2
|
377 |
399 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
405 |
427 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
433 |
455 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
461 |
483 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
489 |
511 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
517 |
539 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
545 |
567 |
6.52e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159403
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161519
|
| SMART Domains |
Protein: ENSMUSP00000124539
Gene: ENSMUSG00000030145
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C2H2_6
|
165 |
188 |
3.3e-2 |
PFAM |
|
ZnF_C2H2
|
276 |
298 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
304 |
326 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
332 |
354 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
360 |
382 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
444 |
466 |
6.52e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175338
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
A |
G |
4: 49,447,477 (GRCm39) |
L368P |
possibly damaging |
Het |
| Adgrg4 |
C |
T |
X: 55,963,114 (GRCm39) |
T1561I |
probably benign |
Het |
| Ankrd50 |
A |
G |
3: 38,536,990 (GRCm39) |
L121S |
possibly damaging |
Het |
| Arfgef1 |
CAGAG |
CAG |
1: 10,212,811 (GRCm39) |
|
probably null |
Het |
| Avil |
A |
G |
10: 126,850,074 (GRCm39) |
S642G |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
| Dhx15 |
T |
C |
5: 52,318,922 (GRCm39) |
|
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,662,615 (GRCm39) |
|
probably benign |
Het |
| H2-T24 |
T |
C |
17: 36,328,264 (GRCm39) |
Y73C |
probably damaging |
Het |
| Hal |
T |
C |
10: 93,325,769 (GRCm39) |
I94T |
possibly damaging |
Het |
| Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
| Irak3 |
T |
A |
10: 120,006,278 (GRCm39) |
M213L |
probably benign |
Het |
| Kcnj2 |
A |
G |
11: 110,963,481 (GRCm39) |
D291G |
possibly damaging |
Het |
| Krtap13 |
A |
G |
16: 88,547,957 (GRCm39) |
L177P |
possibly damaging |
Het |
| Mios |
A |
G |
6: 8,215,496 (GRCm39) |
T231A |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Odr4 |
A |
T |
1: 150,264,308 (GRCm39) |
L67* |
probably null |
Het |
| Or4c122 |
A |
G |
2: 89,079,336 (GRCm39) |
F234S |
possibly damaging |
Het |
| Pramel30 |
A |
C |
4: 144,057,876 (GRCm39) |
Q161P |
probably benign |
Het |
| Ralgapa1 |
C |
A |
12: 55,745,552 (GRCm39) |
V1268F |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,113,414 (GRCm39) |
M551K |
possibly damaging |
Het |
| Serpinb9c |
A |
C |
13: 33,334,077 (GRCm39) |
C322G |
probably benign |
Het |
| Slc28a3 |
C |
T |
13: 58,710,824 (GRCm39) |
|
probably null |
Het |
| Slc35e4 |
A |
T |
11: 3,862,970 (GRCm39) |
V73E |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
| Trim5 |
G |
A |
7: 103,915,727 (GRCm39) |
Q273* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,867,910 (GRCm39) |
T1974M |
probably damaging |
Het |
| Wdr25 |
T |
A |
12: 108,993,208 (GRCm39) |
C475S |
probably benign |
Het |
| Zfp202 |
C |
A |
9: 40,119,721 (GRCm39) |
H175N |
probably benign |
Het |
|
| Other mutations in Zfp248 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00582:Zfp248
|
APN |
6 |
118,406,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02268:Zfp248
|
APN |
6 |
118,430,801 (GRCm39) |
intron |
probably benign |
|
|
R1374:Zfp248
|
UTSW |
6 |
118,410,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:Zfp248
|
UTSW |
6 |
118,406,765 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1794:Zfp248
|
UTSW |
6 |
118,406,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Zfp248
|
UTSW |
6 |
118,405,931 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3900:Zfp248
|
UTSW |
6 |
118,406,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Zfp248
|
UTSW |
6 |
118,410,268 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4810:Zfp248
|
UTSW |
6 |
118,406,807 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4924:Zfp248
|
UTSW |
6 |
118,406,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4926:Zfp248
|
UTSW |
6 |
118,406,787 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7326:Zfp248
|
UTSW |
6 |
118,407,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7357:Zfp248
|
UTSW |
6 |
118,406,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7910:Zfp248
|
UTSW |
6 |
118,407,103 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9332:Zfp248
|
UTSW |
6 |
118,405,891 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9789:Zfp248
|
UTSW |
6 |
118,406,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAAGCCTTGTCCTGTTTCG -3'
(R):5'- CGACCTATTAGAGAGCAACCAG -3'
Sequencing Primer
(F):5'- GTCCTGTTTCGTTATACTCAAAAGGC -3'
(R):5'- GGAAAATCAAGATGGACATTTTTGGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation