Incidental Mutation 'R4017:Zfp940'
| ID |
311989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp940
|
| Ensembl Gene |
ENSMUSG00000050855 |
| Gene Name |
zinc finger protein 940 |
| Synonyms |
BC027344 |
| MMRRC Submission |
041611-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4017 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29533943-29553101 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29545359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 183
(I183V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085792]
[ENSMUST00000108223]
|
| AlphaFold |
Q8R2Q3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085792
AA Change: I183V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082947
Gene: ENSMUSG00000050855
AA Change: I183V
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
66 |
1.05e-31 |
SMART |
|
ZnF_C2H2
|
251 |
273 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
279 |
301 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
307 |
329 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
340 |
362 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
368 |
390 |
5.34e-1 |
SMART |
|
ZnF_C2H2
|
396 |
418 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
424 |
446 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
452 |
474 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
485 |
507 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
513 |
535 |
2.24e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108223
|
| SMART Domains |
Protein: ENSMUSP00000103858
Gene: ENSMUSG00000050855
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
67 |
2.42e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145098
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
G |
T |
19: 4,917,574 (GRCm39) |
T423N |
possibly damaging |
Het |
| Apold1 |
A |
G |
6: 134,960,869 (GRCm39) |
I108V |
probably benign |
Het |
| Arhgap21 |
G |
T |
2: 20,896,915 (GRCm39) |
F121L |
probably benign |
Het |
| BC004004 |
T |
C |
17: 29,517,706 (GRCm39) |
S307P |
probably damaging |
Het |
| Cpeb4 |
A |
G |
11: 31,874,671 (GRCm39) |
D484G |
probably damaging |
Het |
| Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
| Dnm2 |
A |
G |
9: 21,405,900 (GRCm39) |
Y553C |
probably damaging |
Het |
| Dync1h1 |
G |
T |
12: 110,609,624 (GRCm39) |
R2802I |
probably damaging |
Het |
| Eif2a |
T |
A |
3: 58,452,776 (GRCm39) |
M209K |
probably damaging |
Het |
| Epb41 |
A |
T |
4: 131,709,756 (GRCm39) |
|
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,400,813 (GRCm39) |
K1071E |
probably benign |
Het |
| Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,371,067 (GRCm39) |
Y504N |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 93,004,014 (GRCm39) |
D156G |
probably damaging |
Het |
| Klhl10 |
G |
A |
11: 100,336,500 (GRCm39) |
M162I |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,497,513 (GRCm39) |
R165S |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,417,367 (GRCm39) |
V3438M |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,468,182 (GRCm39) |
R479G |
possibly damaging |
Het |
| Npr1 |
T |
C |
3: 90,363,539 (GRCm39) |
E828G |
probably damaging |
Het |
| Obscn |
A |
G |
11: 59,023,448 (GRCm39) |
F643S |
probably damaging |
Het |
| Or11h23 |
A |
T |
14: 50,948,333 (GRCm39) |
D182V |
probably benign |
Het |
| Or12e1 |
A |
G |
2: 87,022,846 (GRCm39) |
S272G |
probably benign |
Het |
| Pcdhga8 |
T |
C |
18: 37,948,791 (GRCm39) |
V69A |
probably damaging |
Het |
| Ppp6r1 |
C |
A |
7: 4,636,743 (GRCm39) |
C688F |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rnf157 |
A |
T |
11: 116,250,067 (GRCm39) |
|
probably null |
Het |
| Saxo1 |
A |
T |
4: 86,476,233 (GRCm39) |
I7N |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,572,329 (GRCm39) |
I214N |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Suz12 |
G |
T |
11: 79,904,292 (GRCm39) |
V211F |
probably damaging |
Het |
| Trim9 |
G |
A |
12: 70,393,126 (GRCm39) |
H273Y |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
| Wdr70 |
A |
T |
15: 8,108,698 (GRCm39) |
C149* |
probably null |
Het |
|
| Other mutations in Zfp940 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01941:Zfp940
|
APN |
7 |
29,546,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02092:Zfp940
|
APN |
7 |
29,545,626 (GRCm39) |
missense |
probably benign |
|
|
IGL02498:Zfp940
|
APN |
7 |
29,546,376 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0503:Zfp940
|
UTSW |
7 |
29,545,445 (GRCm39) |
intron |
probably benign |
|
|
R0614:Zfp940
|
UTSW |
7 |
29,545,671 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1604:Zfp940
|
UTSW |
7 |
29,545,500 (GRCm39) |
missense |
probably benign |
|
|
R1619:Zfp940
|
UTSW |
7 |
29,544,962 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1715:Zfp940
|
UTSW |
7 |
29,544,363 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1749:Zfp940
|
UTSW |
7 |
29,544,952 (GRCm39) |
nonsense |
probably null |
|
|
R1862:Zfp940
|
UTSW |
7 |
29,544,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4673:Zfp940
|
UTSW |
7 |
29,544,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4761:Zfp940
|
UTSW |
7 |
29,545,578 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4890:Zfp940
|
UTSW |
7 |
29,544,824 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5027:Zfp940
|
UTSW |
7 |
29,550,381 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5285:Zfp940
|
UTSW |
7 |
29,545,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5340:Zfp940
|
UTSW |
7 |
29,544,266 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5439:Zfp940
|
UTSW |
7 |
29,544,858 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5983:Zfp940
|
UTSW |
7 |
29,544,477 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7873:Zfp940
|
UTSW |
7 |
29,535,042 (GRCm39) |
missense |
unknown |
|
|
R8035:Zfp940
|
UTSW |
7 |
29,544,948 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8430:Zfp940
|
UTSW |
7 |
29,544,771 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8469:Zfp940
|
UTSW |
7 |
29,544,572 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Z1186:Zfp940
|
UTSW |
7 |
29,545,404 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp940
|
UTSW |
7 |
29,545,361 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp940
|
UTSW |
7 |
29,535,031 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCGGAAGGCCCAGTATTC -3'
(R):5'- GAAAACGCAGTCTTGAAGATTTCTG -3'
Sequencing Primer
(F):5'- AAGGCCCAGTATTCCTGAAGGC -3'
(R):5'- CTGGGATGGCAAAAATCAGTTTC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation