Incidental Mutation 'R4637:Zfp791'
| ID |
350762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp791
|
| Ensembl Gene |
ENSMUSG00000074194 |
| Gene Name |
zinc finger protein 791 |
| Synonyms |
EG244556 |
| MMRRC Submission |
042010-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4637 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85835182-85849724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85836514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 450
(E450G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098550]
[ENSMUST00000211109]
|
| AlphaFold |
Q497V9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098550
AA Change: E450G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096150
Gene: ENSMUSG00000074194
AA Change: E450G
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
64 |
4.26e-18 |
SMART |
|
ZnF_C2H2
|
102 |
124 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
139 |
161 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
195 |
217 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
223 |
245 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
251 |
273 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
281 |
303 |
2.02e-1 |
SMART |
|
ZnF_C2H2
|
309 |
331 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
337 |
359 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
365 |
387 |
2.29e0 |
SMART |
|
ZnF_C2H2
|
393 |
415 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
421 |
443 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
449 |
471 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
477 |
499 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
505 |
527 |
2.71e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158588
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211109
AA Change: E450G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.2380 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (27/28) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Art1 |
T |
A |
7: 101,755,544 (GRCm39) |
V12E |
probably damaging |
Het |
| Ccdc121 |
G |
A |
5: 31,645,435 (GRCm39) |
R396Q |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,914,443 (GRCm39) |
S653G |
probably benign |
Het |
| Clic6 |
T |
C |
16: 92,293,949 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,925,947 (GRCm39) |
L3717Q |
probably damaging |
Het |
| Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
| Gtf2f1 |
G |
T |
17: 57,311,534 (GRCm39) |
P292H |
probably benign |
Het |
| Hcn1 |
A |
T |
13: 118,112,249 (GRCm39) |
T738S |
unknown |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hmbs |
A |
G |
9: 44,250,834 (GRCm39) |
S130P |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,283,768 (GRCm39) |
I1299N |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Muc17 |
A |
T |
5: 137,175,502 (GRCm39) |
L56Q |
probably damaging |
Het |
| Myd88 |
G |
A |
9: 119,167,175 (GRCm39) |
|
probably null |
Het |
| Nol6 |
G |
A |
4: 41,121,788 (GRCm39) |
R249W |
probably damaging |
Het |
| Or4g17 |
C |
T |
2: 111,209,927 (GRCm39) |
T194I |
probably benign |
Het |
| Pcdhb1 |
T |
C |
18: 37,398,802 (GRCm39) |
V251A |
possibly damaging |
Het |
| Prkcd |
A |
G |
14: 30,320,722 (GRCm39) |
S633P |
probably benign |
Het |
| Rarb |
T |
C |
14: 16,574,875 (GRCm38) |
H47R |
possibly damaging |
Het |
| Slc16a14 |
A |
G |
1: 84,885,003 (GRCm39) |
V512A |
possibly damaging |
Het |
| Slc34a3 |
C |
T |
2: 25,119,473 (GRCm39) |
V466M |
possibly damaging |
Het |
| Stat3 |
A |
G |
11: 100,784,056 (GRCm39) |
S623P |
probably damaging |
Het |
| Vmn2r16 |
T |
G |
5: 109,478,280 (GRCm39) |
S12A |
probably benign |
Het |
| Zfhx4 |
C |
G |
3: 5,468,464 (GRCm39) |
P2874R |
probably damaging |
Het |
| Zfp3 |
T |
C |
11: 70,662,181 (GRCm39) |
S47P |
probably benign |
Het |
|
| Other mutations in Zfp791 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01512:Zfp791
|
APN |
8 |
85,840,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0004:Zfp791
|
UTSW |
8 |
85,837,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0085:Zfp791
|
UTSW |
8 |
85,838,862 (GRCm39) |
nonsense |
probably null |
|
|
R0496:Zfp791
|
UTSW |
8 |
85,836,609 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1196:Zfp791
|
UTSW |
8 |
85,837,583 (GRCm39) |
nonsense |
probably null |
|
|
R1927:Zfp791
|
UTSW |
8 |
85,837,312 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4240:Zfp791
|
UTSW |
8 |
85,836,295 (GRCm39) |
missense |
probably null |
1.00 |
|
R4370:Zfp791
|
UTSW |
8 |
85,840,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Zfp791
|
UTSW |
8 |
85,837,559 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4713:Zfp791
|
UTSW |
8 |
85,837,597 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4822:Zfp791
|
UTSW |
8 |
85,837,035 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4914:Zfp791
|
UTSW |
8 |
85,837,580 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4915:Zfp791
|
UTSW |
8 |
85,837,580 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4916:Zfp791
|
UTSW |
8 |
85,837,580 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4918:Zfp791
|
UTSW |
8 |
85,837,580 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5106:Zfp791
|
UTSW |
8 |
85,837,259 (GRCm39) |
nonsense |
probably null |
|
|
R5549:Zfp791
|
UTSW |
8 |
85,836,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6093:Zfp791
|
UTSW |
8 |
85,840,135 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6362:Zfp791
|
UTSW |
8 |
85,846,279 (GRCm39) |
start gained |
probably benign |
|
|
R7737:Zfp791
|
UTSW |
8 |
85,838,844 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8986:Zfp791
|
UTSW |
8 |
85,837,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9050:Zfp791
|
UTSW |
8 |
85,837,334 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCATGCGTACACTAAGCAC -3'
(R):5'- AAAGCCTTCATCTGCCTCAC -3'
Sequencing Primer
(F):5'- TCTTTTAAGGGAACTGCCGAGCC -3'
(R):5'- GAGAAGTCCTACGAATGCGATC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation