Incidental Mutation 'R6090:Zfp131'
| ID |
486161 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp131
|
| Ensembl Gene |
ENSMUSG00000094870 |
| Gene Name |
zinc finger protein 131 |
| Synonyms |
2610109I01Rik, Znf131 |
| MMRRC Submission |
044247-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R6090 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
120226723-120252425 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120237532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 275
(H275Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177916]
[ENSMUST00000178271]
[ENSMUST00000223722]
[ENSMUST00000223813]
[ENSMUST00000224946]
|
| AlphaFold |
Q8K3J5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177916
AA Change: H275Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136867
Gene: ENSMUSG00000094870
AA Change: H275Q
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
129 |
4.83e-23 |
SMART |
|
low complexity region
|
205 |
216 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
261 |
283 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
288 |
311 |
2.02e-1 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
356 |
376 |
1.09e2 |
SMART |
|
ZnF_C2H2
|
392 |
414 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
420 |
443 |
1.14e0 |
SMART |
|
low complexity region
|
532 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
593 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178271
|
| SMART Domains |
Protein: ENSMUSP00000136019
Gene: ENSMUSG00000094870
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
129 |
4.83e-23 |
SMART |
|
low complexity region
|
205 |
216 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
254 |
277 |
2.02e-1 |
SMART |
|
ZnF_C2H2
|
294 |
316 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
322 |
342 |
1.09e2 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
386 |
409 |
1.14e0 |
SMART |
|
low complexity region
|
498 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
559 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223722
AA Change: H275Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223797
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223813
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224946
AA Change: H275Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224969
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225484
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the BTB/POZ family of transcription factors. This protein has been found to act as a transcriptional activator and may regulate estrogen receptor signaling. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,624,972 (GRCm39) |
A450V |
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,954,048 (GRCm39) |
|
probably null |
Het |
| Adgrl3 |
A |
T |
5: 81,660,173 (GRCm39) |
N246I |
probably damaging |
Het |
| Bmal2 |
T |
A |
6: 146,731,194 (GRCm39) |
S500T |
possibly damaging |
Het |
| Cdipt |
A |
T |
7: 126,576,131 (GRCm39) |
M29L |
possibly damaging |
Het |
| Chml |
G |
T |
1: 175,514,624 (GRCm39) |
Y432* |
probably null |
Het |
| Clasp2 |
G |
T |
9: 113,681,803 (GRCm39) |
V320L |
probably benign |
Het |
| Col12a1 |
G |
A |
9: 79,599,675 (GRCm39) |
T826M |
probably damaging |
Het |
| Cpsf3 |
A |
G |
12: 21,345,194 (GRCm39) |
I169V |
probably damaging |
Het |
| Dhx36 |
G |
A |
3: 62,404,241 (GRCm39) |
T234M |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,571,375 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
A |
T |
14: 30,991,382 (GRCm39) |
I3132N |
possibly damaging |
Het |
| Fbxw20 |
G |
T |
9: 109,052,431 (GRCm39) |
Q231K |
probably benign |
Het |
| Gfod1 |
G |
T |
13: 43,354,437 (GRCm39) |
Y179* |
probably null |
Het |
| Glg1 |
T |
A |
8: 111,907,667 (GRCm39) |
I510F |
probably damaging |
Het |
| Gm10801 |
TC |
TCGGC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Gse1 |
C |
A |
8: 121,297,908 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Klrd1 |
T |
C |
6: 129,572,499 (GRCm39) |
L97P |
probably damaging |
Het |
| Lgmn |
A |
T |
12: 102,366,413 (GRCm39) |
M240K |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,075,880 (GRCm39) |
|
probably null |
Het |
| Notch2 |
A |
T |
3: 98,042,693 (GRCm39) |
R1353* |
probably null |
Het |
| Or2d2b |
A |
G |
7: 106,705,456 (GRCm39) |
V204A |
possibly damaging |
Het |
| Or5t18 |
A |
C |
2: 86,636,701 (GRCm39) |
V214G |
possibly damaging |
Het |
| Pcdhb14 |
G |
A |
18: 37,581,659 (GRCm39) |
S255N |
probably benign |
Het |
| Pcgf2 |
C |
T |
11: 97,581,817 (GRCm39) |
M25I |
possibly damaging |
Het |
| Poll |
G |
T |
19: 45,544,436 (GRCm39) |
D328E |
probably benign |
Het |
| Pomgnt2 |
A |
T |
9: 121,811,863 (GRCm39) |
L306Q |
probably damaging |
Het |
| Proser1 |
A |
T |
3: 53,386,088 (GRCm39) |
M657L |
probably benign |
Het |
| Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
| Rdh11 |
G |
T |
12: 79,235,838 (GRCm39) |
P37T |
probably benign |
Het |
| Rsph10b |
A |
T |
5: 143,913,946 (GRCm39) |
I286L |
probably benign |
Het |
| Septin4 |
G |
A |
11: 87,480,343 (GRCm39) |
R238K |
possibly damaging |
Het |
| Sptan1 |
C |
T |
2: 29,883,899 (GRCm39) |
R580C |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,524,135 (GRCm39) |
W777R |
probably damaging |
Het |
| Timd2 |
T |
C |
11: 46,578,063 (GRCm39) |
T23A |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,052 (GRCm39) |
Y376H |
probably damaging |
Het |
| Tmem143 |
A |
G |
7: 45,558,950 (GRCm39) |
I297M |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,014,575 (GRCm39) |
T609A |
probably benign |
Het |
| Tyw3 |
T |
C |
3: 154,302,704 (GRCm39) |
H10R |
probably benign |
Het |
| Unc13b |
C |
A |
4: 43,239,306 (GRCm39) |
H3456Q |
probably damaging |
Het |
|
| Other mutations in Zfp131 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1444:Zfp131
|
UTSW |
13 |
120,251,784 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1604:Zfp131
|
UTSW |
13 |
120,230,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1605:Zfp131
|
UTSW |
13 |
120,230,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1712:Zfp131
|
UTSW |
13 |
120,228,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1899:Zfp131
|
UTSW |
13 |
120,228,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2207:Zfp131
|
UTSW |
13 |
120,237,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4227:Zfp131
|
UTSW |
13 |
120,228,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4342:Zfp131
|
UTSW |
13 |
120,237,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4852:Zfp131
|
UTSW |
13 |
120,250,394 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4876:Zfp131
|
UTSW |
13 |
120,250,491 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4990:Zfp131
|
UTSW |
13 |
120,244,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5979:Zfp131
|
UTSW |
13 |
120,237,982 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6269:Zfp131
|
UTSW |
13 |
120,227,941 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6791:Zfp131
|
UTSW |
13 |
120,228,129 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7147:Zfp131
|
UTSW |
13 |
120,228,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7217:Zfp131
|
UTSW |
13 |
120,237,377 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7809:Zfp131
|
UTSW |
13 |
120,250,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7815:Zfp131
|
UTSW |
13 |
120,237,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8231:Zfp131
|
UTSW |
13 |
120,237,348 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8308:Zfp131
|
UTSW |
13 |
120,244,440 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8890:Zfp131
|
UTSW |
13 |
120,244,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9485:Zfp131
|
UTSW |
13 |
120,251,885 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTGTCACAGTACTGGCATATG -3'
(R):5'- ACAGGCTCCTCCGATGATTC -3'
Sequencing Primer
(F):5'- ACGCACTCTCTCGAAGAT -3'
(R):5'- TGTTGGCAGATATCACCAGC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation