Incidental Mutation 'R9575:Zfp971'
ID |
722231 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp971
|
Ensembl Gene |
ENSMUSG00000074519 |
Gene Name |
zinc finger protein 971 |
Synonyms |
Etohi1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R9575 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
177665077-177675815 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 177675303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 301
(C301S)
|
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 |
probably damaging
Transcript: ENSMUST00000108926
AA Change: C301S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104554 Gene: ENSMUSG00000074519 AA Change: C301S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
B4galt4 |
T |
C |
16: 38,583,513 (GRCm39) |
Y253H |
probably damaging |
Het |
Catsperd |
A |
G |
17: 56,935,231 (GRCm39) |
R15G |
unknown |
Het |
Cep350 |
G |
A |
1: 155,751,113 (GRCm39) |
P2020S |
probably benign |
Het |
Cip2a |
T |
A |
16: 48,838,754 (GRCm39) |
M857K |
probably benign |
Het |
Fancm |
T |
A |
12: 65,152,314 (GRCm39) |
D923E |
possibly damaging |
Het |
Fastk |
A |
G |
5: 24,650,067 (GRCm39) |
S27P |
probably benign |
Het |
Flnc |
A |
G |
6: 29,454,399 (GRCm39) |
H1937R |
probably damaging |
Het |
Gfm2 |
T |
C |
13: 97,285,906 (GRCm39) |
W132R |
probably damaging |
Het |
Grhl1 |
T |
C |
12: 24,636,082 (GRCm39) |
I348T |
probably damaging |
Het |
Gstcd |
G |
T |
3: 132,704,708 (GRCm39) |
H515Q |
probably damaging |
Het |
Igsf3 |
A |
G |
3: 101,338,625 (GRCm39) |
Y313C |
probably damaging |
Het |
Mbtd1 |
G |
A |
11: 93,799,764 (GRCm39) |
|
probably null |
Het |
Myo9a |
T |
C |
9: 59,813,190 (GRCm39) |
S2130P |
probably damaging |
Het |
Or3a10 |
A |
T |
11: 73,935,840 (GRCm39) |
C87S |
probably benign |
Het |
Plpp4 |
T |
A |
7: 128,925,211 (GRCm39) |
F149I |
probably benign |
Het |
Poglut1 |
T |
C |
16: 38,363,285 (GRCm39) |
T165A |
probably benign |
Het |
Potefam3b |
A |
T |
8: 21,159,090 (GRCm39) |
D148V |
probably damaging |
Het |
Rhbdf1 |
A |
G |
11: 32,163,101 (GRCm39) |
I425T |
probably benign |
Het |
Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
Slc6a9 |
T |
C |
4: 117,714,603 (GRCm39) |
S175P |
probably benign |
Het |
Slitrk3 |
C |
T |
3: 72,956,127 (GRCm39) |
G882S |
probably benign |
Het |
Spag9 |
A |
G |
11: 93,962,409 (GRCm39) |
I356M |
probably damaging |
Het |
Spef2 |
A |
T |
15: 9,596,672 (GRCm39) |
L1459Q |
probably damaging |
Het |
Tenm3 |
A |
T |
8: 48,688,796 (GRCm39) |
F2264I |
possibly damaging |
Het |
Vmn2r3 |
T |
C |
3: 64,178,735 (GRCm39) |
N510S |
probably benign |
Het |
Zfp866 |
A |
T |
8: 70,219,288 (GRCm39) |
C111S |
probably damaging |
Het |
Zfp976 |
T |
C |
7: 42,262,041 (GRCm39) |
T600A |
unknown |
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 |
R2343:Zfp971
|
UTSW |
2 |
177,674,787 (GRCm39) |
missense |
possibly damaging |
0.84 |
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 |
R9629:Zfp971
|
UTSW |
2 |
177,675,417 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCTGTCATCTCAGAATCCATAAG -3'
(R):5'- AGGTCACTACTGCTTGCAAAG -3'
Sequencing Primer
(F):5'- GCAGTAAGCAGTCATCTCGGAATC -3'
(R):5'- GCTTGCAAAGGCTTTACCACATTG -3'
|
Posted On |
2022-08-09 |