Incidental Mutation 'R2343:Zfp971'
| ID |
245892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp971
|
| Ensembl Gene |
ENSMUSG00000074519 |
| Gene Name |
zinc finger protein 971 |
| Synonyms |
Etohi1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R2343 (G1)
|
| Quality Score |
201 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
177665077-177675815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 177674787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 129
(K129E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108925]
[ENSMUST00000108926]
|
| AlphaFold |
A2BFG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108925
|
| SMART Domains |
Protein: ENSMUSP00000104553
Gene: ENSMUSG00000074519
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
64 |
1.2e-12 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108926
AA Change: K129E
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104554
Gene: ENSMUSG00000074519
AA Change: K129E
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
1.6e-13 |
SMART |
|
ZnF_C2H2
|
78 |
97 |
1.38e2 |
SMART |
|
ZnF_C2H2
|
103 |
125 |
4.38e1 |
SMART |
|
ZnF_C2H2
|
131 |
153 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
159 |
181 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
187 |
209 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
215 |
237 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
243 |
265 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
271 |
293 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
299 |
321 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
327 |
349 |
4.61e-5 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
383 |
405 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
411 |
433 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
439 |
461 |
5.99e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181241
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcr |
T |
C |
10: 74,981,254 (GRCm39) |
I691T |
probably benign |
Het |
| Col20a1 |
A |
G |
2: 180,643,124 (GRCm39) |
T865A |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 50,023,745 (GRCm39) |
R1676H |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,735,355 (GRCm39) |
V1111A |
probably damaging |
Het |
| Eif3g |
T |
C |
9: 20,806,450 (GRCm39) |
Y213C |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 39,011,254 (GRCm39) |
S2118F |
probably damaging |
Het |
| Gpr85 |
A |
G |
6: 13,836,695 (GRCm39) |
S70P |
probably damaging |
Het |
| Krtap31-1 |
A |
C |
11: 99,798,847 (GRCm39) |
T17P |
possibly damaging |
Het |
| Lig1 |
A |
G |
7: 13,026,121 (GRCm39) |
|
probably null |
Het |
| Lman2l |
A |
T |
1: 36,467,190 (GRCm39) |
D269E |
possibly damaging |
Het |
| Mcc |
A |
G |
18: 44,592,864 (GRCm39) |
|
probably null |
Het |
| Nav2 |
T |
C |
7: 49,248,565 (GRCm39) |
F2302L |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or13p4 |
C |
A |
4: 118,547,384 (GRCm39) |
M88I |
probably benign |
Het |
| Or4k38 |
A |
G |
2: 111,166,045 (GRCm39) |
I126T |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,074,394 (GRCm39) |
F67L |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,612,597 (GRCm39) |
V448D |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,564,604 (GRCm39) |
K160R |
probably benign |
Het |
| Spata2 |
A |
T |
2: 167,325,280 (GRCm39) |
V513E |
probably damaging |
Het |
| Susd3 |
T |
A |
13: 49,392,335 (GRCm39) |
M107L |
probably damaging |
Het |
| Tnni3k |
A |
G |
3: 154,644,466 (GRCm39) |
I564T |
probably benign |
Het |
|
| Other mutations in Zfp971 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Zfp971
|
APN |
2 |
177,665,175 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1108:Zfp971
|
UTSW |
2 |
177,675,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Zfp971
|
UTSW |
2 |
177,675,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2183:Zfp971
|
UTSW |
2 |
177,675,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Zfp971
|
UTSW |
2 |
177,674,940 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4875:Zfp971
|
UTSW |
2 |
177,674,940 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5263:Zfp971
|
UTSW |
2 |
177,675,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Zfp971
|
UTSW |
2 |
177,675,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6150:Zfp971
|
UTSW |
2 |
177,675,247 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6693:Zfp971
|
UTSW |
2 |
177,675,224 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6811:Zfp971
|
UTSW |
2 |
177,675,674 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7427:Zfp971
|
UTSW |
2 |
177,674,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Zfp971
|
UTSW |
2 |
177,674,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7594:Zfp971
|
UTSW |
2 |
177,675,793 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7790:Zfp971
|
UTSW |
2 |
177,675,292 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7796:Zfp971
|
UTSW |
2 |
177,673,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7934:Zfp971
|
UTSW |
2 |
177,675,173 (GRCm39) |
missense |
probably benign |
|
|
R7990:Zfp971
|
UTSW |
2 |
177,675,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8671:Zfp971
|
UTSW |
2 |
177,675,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9181:Zfp971
|
UTSW |
2 |
177,674,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9575:Zfp971
|
UTSW |
2 |
177,675,303 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9629:Zfp971
|
UTSW |
2 |
177,675,417 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATGAAAGAAGTTCTTCTGCAG -3'
(R):5'- TACTGCAAAGGCTTTACCACATTG -3'
Sequencing Primer
(F):5'- GAAGTTCTTCTGCAGAGCAAC -3'
(R):5'- GCAAAGGCTTTACCACATTGTTTAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation