Incidental Mutation 'R5492:Zfp943'
| ID |
432140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp943
|
| Ensembl Gene |
ENSMUSG00000053347 |
| Gene Name |
zinc finger prtoein 943 |
| Synonyms |
4930432O21Rik |
| MMRRC Submission |
043053-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.250)
|
| Stock # |
R5492 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
22181540-22213347 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22212056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 381
(C381S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055349]
[ENSMUST00000153985]
[ENSMUST00000174015]
|
| AlphaFold |
Q6NZP4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055349
AA Change: C381S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059554
Gene: ENSMUSG00000053347
AA Change: C381S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
72 |
2.62e-18 |
SMART |
|
ZnF_C2H2
|
180 |
202 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
208 |
230 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
236 |
258 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
264 |
286 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
292 |
314 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
320 |
342 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
348 |
370 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
376 |
398 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
404 |
426 |
2.15e-5 |
SMART |
|
ZnF_C2H2
|
432 |
454 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
460 |
482 |
3.34e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153985
|
| SMART Domains |
Protein: ENSMUSP00000115817
Gene: ENSMUSG00000053347
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
73 |
3.51e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174015
|
| SMART Domains |
Protein: ENSMUSP00000133735
Gene: ENSMUSG00000053347
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
60 |
3.79e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.5%
- 20x: 89.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
T |
1: 11,615,431 (GRCm39) |
R135C |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,073,176 (GRCm39) |
Y328H |
probably benign |
Het |
| Abcg4 |
T |
C |
9: 44,189,355 (GRCm39) |
T381A |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,336,384 (GRCm39) |
N1490D |
probably benign |
Het |
| Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
| Armc8 |
G |
T |
9: 99,409,184 (GRCm39) |
C169* |
probably null |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,989,714 (GRCm39) |
P2013S |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,813,915 (GRCm39) |
|
probably null |
Het |
| Cmtr1 |
T |
A |
17: 29,909,316 (GRCm39) |
F408L |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,488,608 (GRCm39) |
R1104W |
possibly damaging |
Het |
| Drg2 |
A |
C |
11: 60,352,422 (GRCm39) |
H208P |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,339,306 (GRCm39) |
D533V |
probably damaging |
Het |
| Gm9930 |
T |
A |
10: 9,410,337 (GRCm39) |
|
noncoding transcript |
Het |
| Haus5 |
A |
G |
7: 30,358,380 (GRCm39) |
V305A |
possibly damaging |
Het |
| Hint3 |
C |
A |
10: 30,494,245 (GRCm39) |
R30L |
probably benign |
Het |
| Hltf |
T |
A |
3: 20,152,231 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,310,318 (GRCm39) |
L3304Q |
probably benign |
Het |
| Hspa2 |
A |
G |
12: 76,451,308 (GRCm39) |
M1V |
probably null |
Het |
| Htr5b |
T |
C |
1: 121,455,387 (GRCm39) |
T178A |
possibly damaging |
Het |
| Ighv1-11 |
A |
G |
12: 114,576,084 (GRCm39) |
S44P |
probably damaging |
Het |
| Larp1b |
C |
T |
3: 40,924,334 (GRCm39) |
R104W |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,361,189 (GRCm39) |
T550A |
probably damaging |
Het |
| Map4 |
T |
A |
9: 109,881,450 (GRCm39) |
S105T |
possibly damaging |
Het |
| Mgam |
T |
C |
6: 40,733,297 (GRCm39) |
C691R |
probably damaging |
Het |
| Mms19 |
A |
G |
19: 41,944,270 (GRCm39) |
I310T |
possibly damaging |
Het |
| Myh2 |
A |
C |
11: 67,071,701 (GRCm39) |
K506T |
probably benign |
Het |
| Ngdn |
T |
C |
14: 55,260,509 (GRCm39) |
V239A |
probably benign |
Het |
| Plin1 |
G |
A |
7: 79,375,460 (GRCm39) |
R151* |
probably null |
Het |
| Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
| Rdh16f2 |
G |
T |
10: 127,702,623 (GRCm39) |
E67* |
probably null |
Het |
| Slc25a36 |
A |
C |
9: 96,982,259 (GRCm39) |
C25W |
probably damaging |
Het |
| Stk31 |
G |
A |
6: 49,375,177 (GRCm39) |
A49T |
probably damaging |
Het |
| Tigar |
T |
A |
6: 127,066,167 (GRCm39) |
T124S |
possibly damaging |
Het |
| Tsn |
A |
G |
1: 118,232,443 (GRCm39) |
V144A |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfyve19 |
A |
T |
2: 119,039,595 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zfp943 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03101:Zfp943
|
APN |
17 |
22,211,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0019:Zfp943
|
UTSW |
17 |
22,211,070 (GRCm39) |
intron |
probably benign |
|
|
R0827:Zfp943
|
UTSW |
17 |
22,211,071 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1824:Zfp943
|
UTSW |
17 |
22,211,361 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1958:Zfp943
|
UTSW |
17 |
22,211,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2174:Zfp943
|
UTSW |
17 |
22,211,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3790:Zfp943
|
UTSW |
17 |
22,211,403 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4093:Zfp943
|
UTSW |
17 |
22,211,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4094:Zfp943
|
UTSW |
17 |
22,211,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4352:Zfp943
|
UTSW |
17 |
22,212,104 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4677:Zfp943
|
UTSW |
17 |
22,212,176 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4735:Zfp943
|
UTSW |
17 |
22,211,391 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5201:Zfp943
|
UTSW |
17 |
22,211,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Zfp943
|
UTSW |
17 |
22,211,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6031:Zfp943
|
UTSW |
17 |
22,212,357 (GRCm39) |
missense |
probably benign |
|
|
R6031:Zfp943
|
UTSW |
17 |
22,212,357 (GRCm39) |
missense |
probably benign |
|
|
R6667:Zfp943
|
UTSW |
17 |
22,211,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6864:Zfp943
|
UTSW |
17 |
22,211,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6976:Zfp943
|
UTSW |
17 |
22,209,922 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7837:Zfp943
|
UTSW |
17 |
22,211,346 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7934:Zfp943
|
UTSW |
17 |
22,212,361 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8302:Zfp943
|
UTSW |
17 |
22,211,091 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8323:Zfp943
|
UTSW |
17 |
22,211,763 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9025:Zfp943
|
UTSW |
17 |
22,211,321 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9101:Zfp943
|
UTSW |
17 |
22,212,392 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9279:Zfp943
|
UTSW |
17 |
22,209,832 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9640:Zfp943
|
UTSW |
17 |
22,209,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Zfp943
|
UTSW |
17 |
22,211,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zfp943
|
UTSW |
17 |
22,207,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTTACACGCAAAGGAGA -3'
(R):5'- CGGGGTTAGGAATTTATCACATTCAC -3'
Sequencing Primer
(F):5'- GAATTCATACAGGAGAGAAACCTTAC -3'
(R):5'- CGCTGATGAATTCTAAGCTCAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation