Incidental Mutation 'R5505:Zfp941'
| ID |
430884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp941
|
| Ensembl Gene |
ENSMUSG00000060314 |
| Gene Name |
zinc finger protein 941 |
| Synonyms |
BC066028 |
| MMRRC Submission |
043066-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R5505 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140387362-140402091 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 140391830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 510
(V510I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080651]
[ENSMUST00000106052]
[ENSMUST00000150053]
|
| AlphaFold |
Q3URY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080651
AA Change: V510I
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000079482
Gene: ENSMUSG00000060314
AA Change: V510I
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
65 |
3.88e-21 |
SMART |
|
ZnF_C2H2
|
339 |
361 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
367 |
389 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
395 |
417 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
423 |
445 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
451 |
471 |
1.16e1 |
SMART |
|
ZnF_C2H2
|
500 |
522 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
528 |
550 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
556 |
578 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
584 |
606 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
612 |
634 |
3.69e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106052
AA Change: V510I
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000101667
Gene: ENSMUSG00000060314
AA Change: V510I
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
65 |
3.88e-21 |
SMART |
|
ZnF_C2H2
|
339 |
361 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
367 |
389 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
395 |
417 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
423 |
445 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
451 |
471 |
1.16e1 |
SMART |
|
ZnF_C2H2
|
500 |
522 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
528 |
550 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
556 |
578 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
584 |
606 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
612 |
634 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
640 |
662 |
2.99e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150053
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.9%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
A |
5: 24,606,036 (GRCm39) |
D240E |
probably damaging |
Het |
| Alpk3 |
G |
A |
7: 80,728,309 (GRCm39) |
E480K |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,750,248 (GRCm39) |
E372G |
probably damaging |
Het |
| Atp23 |
G |
T |
10: 126,723,499 (GRCm39) |
A201D |
probably damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,046,699 (GRCm39) |
D73G |
probably benign |
Het |
| Ccdc7a |
A |
G |
8: 129,706,655 (GRCm39) |
S325P |
possibly damaging |
Het |
| Cckar |
A |
G |
5: 53,860,410 (GRCm39) |
Y140H |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,767,688 (GRCm39) |
D124E |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,335,048 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,803,745 (GRCm39) |
S34P |
probably benign |
Het |
| Enah |
T |
A |
1: 181,734,018 (GRCm39) |
|
probably benign |
Het |
| Gad2 |
C |
G |
2: 22,514,845 (GRCm39) |
L108V |
probably benign |
Het |
| Gpr22 |
T |
C |
12: 31,759,724 (GRCm39) |
I133V |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,903,187 (GRCm39) |
T13A |
probably benign |
Het |
| Ighv1-4 |
A |
G |
12: 114,451,057 (GRCm39) |
V17A |
possibly damaging |
Het |
| Ints8 |
T |
A |
4: 11,221,143 (GRCm39) |
Q744L |
probably benign |
Het |
| Lrit3 |
C |
T |
3: 129,585,087 (GRCm39) |
V224I |
possibly damaging |
Het |
| Mgat4a |
T |
C |
1: 37,535,035 (GRCm39) |
I108V |
probably benign |
Het |
| Mmp9 |
T |
C |
2: 164,795,528 (GRCm39) |
I682T |
probably benign |
Het |
| Myh7b |
G |
A |
2: 155,474,592 (GRCm39) |
A1742T |
probably benign |
Het |
| Nlrp12 |
C |
T |
7: 3,298,015 (GRCm39) |
G52D |
probably damaging |
Het |
| Or5t9 |
T |
C |
2: 86,659,845 (GRCm39) |
F250L |
possibly damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,996,927 (GRCm39) |
L941P |
probably damaging |
Het |
| Pla2g4e |
T |
C |
2: 120,075,256 (GRCm39) |
R45G |
probably benign |
Het |
| Plcz1 |
C |
G |
6: 139,961,942 (GRCm39) |
G203A |
probably damaging |
Het |
| Poldip2 |
A |
G |
11: 78,406,001 (GRCm39) |
T76A |
probably benign |
Het |
| Prdm15 |
T |
A |
16: 97,618,183 (GRCm39) |
H325L |
possibly damaging |
Het |
| Ralyl |
A |
T |
3: 13,841,980 (GRCm39) |
I39F |
probably damaging |
Het |
| Rnf220 |
A |
C |
4: 117,153,288 (GRCm39) |
|
probably benign |
Het |
| Rnpc3 |
T |
C |
3: 113,409,102 (GRCm39) |
K318E |
probably damaging |
Het |
| Rsbn1 |
T |
A |
3: 103,836,259 (GRCm39) |
N432K |
probably damaging |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,072 (GRCm39) |
Y176N |
probably damaging |
Het |
| Slc25a30 |
G |
A |
14: 76,000,789 (GRCm39) |
L272F |
probably damaging |
Het |
| Spag1 |
T |
C |
15: 36,234,772 (GRCm39) |
V844A |
probably damaging |
Het |
| Srsf5 |
T |
C |
12: 80,995,857 (GRCm39) |
|
probably benign |
Het |
| Tle2 |
T |
A |
10: 81,417,574 (GRCm39) |
D223E |
probably benign |
Het |
| Tmem192 |
A |
G |
8: 65,416,898 (GRCm39) |
E39G |
possibly damaging |
Het |
| Trpc6 |
T |
A |
9: 8,626,736 (GRCm39) |
L362H |
probably damaging |
Het |
| Tuba4a |
A |
G |
1: 75,193,060 (GRCm39) |
Y185H |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,268,405 (GRCm39) |
V941A |
probably benign |
Het |
| Vmn2r35 |
A |
T |
7: 7,789,479 (GRCm39) |
Y753N |
probably damaging |
Het |
|
| Other mutations in Zfp941 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01393:Zfp941
|
APN |
7 |
140,391,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:Zfp941
|
APN |
7 |
140,392,612 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL03202:Zfp941
|
APN |
7 |
140,392,966 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0025:Zfp941
|
UTSW |
7 |
140,393,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0025:Zfp941
|
UTSW |
7 |
140,393,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0226:Zfp941
|
UTSW |
7 |
140,393,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0945:Zfp941
|
UTSW |
7 |
140,391,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1455:Zfp941
|
UTSW |
7 |
140,392,687 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1581:Zfp941
|
UTSW |
7 |
140,392,033 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2474:Zfp941
|
UTSW |
7 |
140,391,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4052:Zfp941
|
UTSW |
7 |
140,392,340 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4576:Zfp941
|
UTSW |
7 |
140,391,503 (GRCm39) |
nonsense |
probably null |
|
|
R4604:Zfp941
|
UTSW |
7 |
140,392,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5170:Zfp941
|
UTSW |
7 |
140,392,870 (GRCm39) |
unclassified |
probably benign |
|
|
R5311:Zfp941
|
UTSW |
7 |
140,391,872 (GRCm39) |
nonsense |
probably null |
|
|
R5549:Zfp941
|
UTSW |
7 |
140,388,021 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5566:Zfp941
|
UTSW |
7 |
140,392,679 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5723:Zfp941
|
UTSW |
7 |
140,392,763 (GRCm39) |
unclassified |
probably benign |
|
|
R5736:Zfp941
|
UTSW |
7 |
140,392,973 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5861:Zfp941
|
UTSW |
7 |
140,392,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6041:Zfp941
|
UTSW |
7 |
140,392,158 (GRCm39) |
nonsense |
probably null |
|
|
R6058:Zfp941
|
UTSW |
7 |
140,392,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Zfp941
|
UTSW |
7 |
140,392,398 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6488:Zfp941
|
UTSW |
7 |
140,392,663 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6824:Zfp941
|
UTSW |
7 |
140,392,612 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7356:Zfp941
|
UTSW |
7 |
140,392,028 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7554:Zfp941
|
UTSW |
7 |
140,391,970 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1177:Zfp941
|
UTSW |
7 |
140,392,099 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTATGAACTCGCTGGTGCTC -3'
(R):5'- TCAGACCTTAATGTACATCAGAGAAGT -3'
Sequencing Primer
(F):5'- AACTCGCTGGTGCTCTGTAAG -3'
(R):5'- GGATTCACACTGGAGAGAAACCTTTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation