Incidental Mutation 'R3422:Zfp91'
ID |
267102 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp91
|
Ensembl Gene |
ENSMUSG00000024695 |
Gene Name |
zinc finger protein 91 |
Synonyms |
Pzf, 9130014I08Rik, A530054C17Rik |
MMRRC Submission |
040640-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.488)
|
Stock # |
R3422 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
12744384-12773490 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 12747656 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 489
(A489V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124424
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038627]
[ENSMUST00000112933]
[ENSMUST00000142247]
|
AlphaFold |
Q62511 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038627
AA Change: A489V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000037971 Gene: ENSMUSG00000024695 AA Change: A489V
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
27 |
N/A |
INTRINSIC |
low complexity region
|
35 |
43 |
N/A |
INTRINSIC |
low complexity region
|
72 |
92 |
N/A |
INTRINSIC |
low complexity region
|
98 |
114 |
N/A |
INTRINSIC |
low complexity region
|
120 |
135 |
N/A |
INTRINSIC |
low complexity region
|
143 |
167 |
N/A |
INTRINSIC |
low complexity region
|
207 |
226 |
N/A |
INTRINSIC |
coiled coil region
|
256 |
284 |
N/A |
INTRINSIC |
ZnF_C2H2
|
313 |
338 |
1.08e-1 |
SMART |
ZnF_C2H2
|
344 |
368 |
7.15e-2 |
SMART |
ZnF_C2H2
|
374 |
396 |
1.56e-2 |
SMART |
ZnF_C2H2
|
402 |
424 |
2.61e-4 |
SMART |
ZnF_C2H2
|
432 |
455 |
1.92e-2 |
SMART |
low complexity region
|
459 |
471 |
N/A |
INTRINSIC |
low complexity region
|
491 |
502 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112933
|
SMART Domains |
Protein: ENSMUSP00000108555 Gene: ENSMUSG00000079415
Domain | Start | End | E-Value | Type |
Pfam:CNTF
|
1 |
194 |
4.2e-109 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137256
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142247
AA Change: A489V
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000124424 Gene: ENSMUSG00000024695 AA Change: A489V
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
27 |
N/A |
INTRINSIC |
low complexity region
|
35 |
43 |
N/A |
INTRINSIC |
low complexity region
|
72 |
92 |
N/A |
INTRINSIC |
low complexity region
|
98 |
114 |
N/A |
INTRINSIC |
low complexity region
|
120 |
135 |
N/A |
INTRINSIC |
low complexity region
|
143 |
167 |
N/A |
INTRINSIC |
low complexity region
|
207 |
226 |
N/A |
INTRINSIC |
coiled coil region
|
256 |
284 |
N/A |
INTRINSIC |
ZnF_C2H2
|
313 |
338 |
1.08e-1 |
SMART |
ZnF_C2H2
|
344 |
368 |
7.15e-2 |
SMART |
ZnF_C2H2
|
374 |
396 |
1.56e-2 |
SMART |
ZnF_C2H2
|
402 |
424 |
2.61e-4 |
SMART |
ZnF_C2H2
|
432 |
455 |
1.92e-2 |
SMART |
low complexity region
|
459 |
471 |
N/A |
INTRINSIC |
low complexity region
|
491 |
502 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (40/40) |
MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the zinc finger family of proteins. The gene product contains C2H2-type domains, which are the classical zinc finger domains found in numerous nucleic acid-binding proteins. The homologous human protein has been shown to function as a regulator of the non-canonical NF-kappaB pathway in lymphotoxin-beta receptor signaling. A read-through transcript variant composed of Zfp91 and the downstream Cntf gene sequence has been identified, but it is thought to be non-coding. Read-through transcription of Zfp91 and Cntf has been observed in both human and mouse. A Zfp91-related pseudogene has also been identified on chromosome 17. [provided by RefSeq, Oct 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl3 |
A |
G |
6: 34,770,900 (GRCm39) |
T132A |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,983,072 (GRCm39) |
D1452G |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,984,116 (GRCm39) |
D1800G |
probably benign |
Het |
Atp7b |
C |
T |
8: 22,518,686 (GRCm39) |
D51N |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,466,586 (GRCm39) |
T2117A |
possibly damaging |
Het |
Ccdc73 |
A |
T |
2: 104,782,292 (GRCm39) |
K216M |
probably null |
Het |
Ccdc73 |
G |
A |
2: 104,782,293 (GRCm39) |
|
probably null |
Het |
Ckap5 |
T |
A |
2: 91,400,597 (GRCm39) |
W650R |
probably damaging |
Het |
D930048N14Rik |
T |
C |
11: 51,545,785 (GRCm39) |
*226R |
probably null |
Het |
Grin1 |
C |
T |
2: 25,193,926 (GRCm39) |
G390D |
probably damaging |
Het |
Ifit1bl1 |
T |
G |
19: 34,571,350 (GRCm39) |
N369T |
probably benign |
Het |
Kcnip1 |
A |
G |
11: 33,595,594 (GRCm39) |
V43A |
probably damaging |
Het |
Kifap3 |
T |
A |
1: 163,621,595 (GRCm39) |
I81N |
probably damaging |
Het |
Me2 |
C |
T |
18: 73,924,265 (GRCm39) |
A316T |
probably damaging |
Het |
Mgat4d |
T |
C |
8: 84,084,772 (GRCm39) |
S172P |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Nmt2 |
A |
G |
2: 3,285,425 (GRCm39) |
E31G |
possibly damaging |
Het |
Nuak2 |
A |
G |
1: 132,259,818 (GRCm39) |
D532G |
probably benign |
Het |
Nwd2 |
G |
T |
5: 63,882,536 (GRCm39) |
V63L |
possibly damaging |
Het |
Odad2 |
T |
C |
18: 7,223,523 (GRCm39) |
|
probably benign |
Het |
Or1e1 |
A |
G |
11: 73,245,460 (GRCm39) |
N294D |
probably damaging |
Het |
Or4k15b |
T |
C |
14: 50,271,997 (GRCm39) |
T288A |
possibly damaging |
Het |
Otub1 |
C |
T |
19: 7,176,424 (GRCm39) |
D237N |
probably damaging |
Het |
Pik3cg |
A |
T |
12: 32,254,738 (GRCm39) |
F416L |
probably damaging |
Het |
Psmb2 |
T |
C |
4: 126,571,630 (GRCm39) |
M28T |
probably damaging |
Het |
Saysd1 |
T |
A |
14: 20,132,994 (GRCm39) |
K54N |
probably benign |
Het |
Slc5a4a |
T |
C |
10: 76,012,407 (GRCm39) |
V359A |
probably benign |
Het |
Slc7a3 |
T |
A |
X: 100,124,481 (GRCm39) |
|
probably benign |
Het |
Soat2 |
T |
C |
15: 102,065,244 (GRCm39) |
|
probably benign |
Het |
Spink5 |
A |
G |
18: 44,143,311 (GRCm39) |
K756R |
probably benign |
Het |
Tafa1 |
C |
A |
6: 96,626,099 (GRCm39) |
D112E |
probably damaging |
Het |
Tlr4 |
A |
G |
4: 66,757,773 (GRCm39) |
I189V |
probably benign |
Het |
Vsig2 |
G |
A |
9: 37,452,775 (GRCm39) |
V195I |
possibly damaging |
Het |
Zfp217 |
A |
G |
2: 169,961,937 (GRCm39) |
F130S |
possibly damaging |
Het |
|
Other mutations in Zfp91 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02240:Zfp91
|
APN |
19 |
12,753,770 (GRCm39) |
splice site |
probably benign |
|
R0139:Zfp91
|
UTSW |
19 |
12,747,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R0369:Zfp91
|
UTSW |
19 |
12,747,438 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0485:Zfp91
|
UTSW |
19 |
12,753,353 (GRCm39) |
splice site |
probably benign |
|
R0559:Zfp91
|
UTSW |
19 |
12,747,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R0597:Zfp91
|
UTSW |
19 |
12,747,459 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1565:Zfp91
|
UTSW |
19 |
12,756,439 (GRCm39) |
missense |
probably benign |
0.02 |
R4438:Zfp91
|
UTSW |
19 |
12,755,385 (GRCm39) |
nonsense |
probably null |
|
R4898:Zfp91
|
UTSW |
19 |
12,747,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R4927:Zfp91
|
UTSW |
19 |
12,753,774 (GRCm39) |
critical splice donor site |
probably null |
|
R5509:Zfp91
|
UTSW |
19 |
12,756,451 (GRCm39) |
missense |
probably damaging |
0.99 |
R5878:Zfp91
|
UTSW |
19 |
12,747,684 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5978:Zfp91
|
UTSW |
19 |
12,747,515 (GRCm39) |
missense |
probably benign |
0.43 |
R7703:Zfp91
|
UTSW |
19 |
12,754,241 (GRCm39) |
missense |
probably benign |
0.24 |
R7864:Zfp91
|
UTSW |
19 |
12,748,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CCGAGTATATCCGAGTTCATGAC -3'
(R):5'- ATGATGCAGACTCCTTCTACCAG -3'
Sequencing Primer
(F):5'- GAGTATATCCGAGTTCATGACCAGCC -3'
(R):5'- ACCAGTTTTCTTGCAATATCTGTGG -3'
|
Posted On |
2015-02-18 |