Incidental Mutation 'R4528:Zfp985'
ID |
332986 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp985
|
Ensembl Gene |
ENSMUSG00000065999 |
Gene Name |
zinc finger protein 985 |
Synonyms |
Gm13154 |
MMRRC Submission |
041769-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.624)
|
Stock # |
R4528 (G1)
|
Quality Score |
147 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
147637734-147669655 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 147667347 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 72
(I72F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081742]
[ENSMUST00000139784]
[ENSMUST00000143885]
|
AlphaFold |
A2A7A5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081742
AA Change: I72F
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000080438 Gene: ENSMUSG00000065999 AA Change: I72F
Domain | Start | End | E-Value | Type |
KRAB
|
13 |
72 |
4.36e-15 |
SMART |
ZnF_C2H2
|
238 |
260 |
8.34e-3 |
SMART |
ZnF_C2H2
|
266 |
288 |
1.47e-3 |
SMART |
ZnF_C2H2
|
294 |
316 |
2.36e-2 |
SMART |
ZnF_C2H2
|
322 |
344 |
8.34e-3 |
SMART |
ZnF_C2H2
|
350 |
372 |
7.67e-2 |
SMART |
ZnF_C2H2
|
378 |
400 |
8.6e-5 |
SMART |
ZnF_C2H2
|
406 |
428 |
8.6e-5 |
SMART |
ZnF_C2H2
|
434 |
456 |
7.9e-4 |
SMART |
ZnF_C2H2
|
462 |
484 |
1.95e-3 |
SMART |
ZnF_C2H2
|
490 |
512 |
2.09e-3 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139784
AA Change: I72F
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000123296 Gene: ENSMUSG00000065999 AA Change: I72F
Domain | Start | End | E-Value | Type |
KRAB
|
13 |
72 |
4.36e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143885
AA Change: I72F
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000121177 Gene: ENSMUSG00000065999 AA Change: I72F
Domain | Start | End | E-Value | Type |
KRAB
|
13 |
72 |
4.36e-15 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atm |
A |
T |
9: 53,412,059 (GRCm39) |
I999K |
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,656,515 (GRCm39) |
E535G |
possibly damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cenpu |
G |
T |
8: 47,015,457 (GRCm39) |
G34* |
probably null |
Het |
Col7a1 |
C |
A |
9: 108,788,601 (GRCm39) |
A739D |
unknown |
Het |
Coro1b |
T |
C |
19: 4,199,980 (GRCm39) |
V107A |
probably benign |
Het |
Cpeb3 |
T |
C |
19: 37,116,488 (GRCm39) |
D381G |
possibly damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,634,194 (GRCm39) |
D320G |
possibly damaging |
Het |
Dcaf1 |
A |
T |
9: 106,721,403 (GRCm39) |
K398N |
probably damaging |
Het |
Etfa |
A |
G |
9: 55,407,334 (GRCm39) |
S52P |
probably damaging |
Het |
Fat4 |
T |
A |
3: 38,945,443 (GRCm39) |
H1445Q |
probably benign |
Het |
Foxred2 |
T |
A |
15: 77,827,449 (GRCm39) |
M637L |
probably benign |
Het |
Gbe1 |
A |
T |
16: 70,275,225 (GRCm39) |
I342L |
probably benign |
Het |
Gm14410 |
A |
T |
2: 176,885,736 (GRCm39) |
I176K |
probably benign |
Het |
Gm14410 |
G |
T |
2: 176,885,734 (GRCm39) |
H177N |
probably damaging |
Het |
Gm1527 |
T |
A |
3: 28,968,542 (GRCm39) |
M198K |
probably damaging |
Het |
Hr |
T |
C |
14: 70,803,823 (GRCm39) |
L838P |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,678,556 (GRCm39) |
S212P |
possibly damaging |
Het |
Lims1 |
T |
C |
10: 58,245,882 (GRCm39) |
C180R |
probably damaging |
Het |
Mki67 |
A |
T |
7: 135,297,088 (GRCm39) |
S2649T |
probably damaging |
Het |
Or10x1 |
T |
A |
1: 174,196,822 (GRCm39) |
L113H |
probably damaging |
Het |
Or4f57 |
T |
C |
2: 111,791,293 (GRCm39) |
N42D |
probably damaging |
Het |
Or51t4 |
A |
G |
7: 102,598,013 (GRCm39) |
M104V |
probably damaging |
Het |
Pde4dip |
C |
T |
3: 97,624,338 (GRCm39) |
E1399K |
probably damaging |
Het |
Pex1 |
T |
C |
5: 3,681,712 (GRCm39) |
Y1053H |
probably damaging |
Het |
Plscr2 |
G |
A |
9: 92,171,746 (GRCm39) |
E113K |
possibly damaging |
Het |
Pus1 |
T |
C |
5: 110,922,596 (GRCm39) |
Y309C |
probably damaging |
Het |
Scube3 |
T |
A |
17: 28,381,973 (GRCm39) |
V333D |
possibly damaging |
Het |
Serpina11 |
A |
T |
12: 103,952,592 (GRCm39) |
N66K |
probably benign |
Het |
Thtpa |
T |
A |
14: 55,333,039 (GRCm39) |
D41E |
probably damaging |
Het |
Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
Tlr12 |
A |
C |
4: 128,511,818 (GRCm39) |
L144R |
probably damaging |
Het |
Uba7 |
A |
G |
9: 107,861,102 (GRCm39) |
E964G |
possibly damaging |
Het |
Ugt1a6b |
T |
A |
1: 88,035,301 (GRCm39) |
I213N |
probably damaging |
Het |
Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
Zbtb43 |
A |
G |
2: 33,352,337 (GRCm39) |
|
probably benign |
Het |
Zfpm1 |
G |
A |
8: 123,062,381 (GRCm39) |
R480H |
probably benign |
Het |
|
Other mutations in Zfp985 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0098:Zfp985
|
UTSW |
4 |
147,661,566 (GRCm39) |
missense |
probably damaging |
0.97 |
R0324:Zfp985
|
UTSW |
4 |
147,667,314 (GRCm39) |
missense |
probably benign |
0.00 |
R1307:Zfp985
|
UTSW |
4 |
147,667,704 (GRCm39) |
missense |
probably benign |
|
R1594:Zfp985
|
UTSW |
4 |
147,667,537 (GRCm39) |
missense |
probably benign |
0.05 |
R1657:Zfp985
|
UTSW |
4 |
147,668,567 (GRCm39) |
missense |
probably benign |
0.01 |
R1667:Zfp985
|
UTSW |
4 |
147,668,407 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1761:Zfp985
|
UTSW |
4 |
147,668,502 (GRCm39) |
missense |
probably benign |
0.00 |
R1858:Zfp985
|
UTSW |
4 |
147,667,315 (GRCm39) |
missense |
probably benign |
0.29 |
R2509:Zfp985
|
UTSW |
4 |
147,667,443 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2510:Zfp985
|
UTSW |
4 |
147,667,443 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2847:Zfp985
|
UTSW |
4 |
147,667,468 (GRCm39) |
nonsense |
probably null |
|
R2848:Zfp985
|
UTSW |
4 |
147,667,468 (GRCm39) |
nonsense |
probably null |
|
R4245:Zfp985
|
UTSW |
4 |
147,667,396 (GRCm39) |
missense |
probably damaging |
0.96 |
R4260:Zfp985
|
UTSW |
4 |
147,668,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R4434:Zfp985
|
UTSW |
4 |
147,668,368 (GRCm39) |
missense |
probably benign |
0.37 |
R4480:Zfp985
|
UTSW |
4 |
147,668,536 (GRCm39) |
missense |
probably benign |
0.07 |
R4512:Zfp985
|
UTSW |
4 |
147,668,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R4514:Zfp985
|
UTSW |
4 |
147,668,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R4836:Zfp985
|
UTSW |
4 |
147,668,612 (GRCm39) |
missense |
probably damaging |
0.97 |
R4884:Zfp985
|
UTSW |
4 |
147,667,801 (GRCm39) |
missense |
probably benign |
0.04 |
R5054:Zfp985
|
UTSW |
4 |
147,667,438 (GRCm39) |
missense |
probably damaging |
0.98 |
R5106:Zfp985
|
UTSW |
4 |
147,668,612 (GRCm39) |
missense |
probably damaging |
0.97 |
R5205:Zfp985
|
UTSW |
4 |
147,667,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R5266:Zfp985
|
UTSW |
4 |
147,667,289 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5468:Zfp985
|
UTSW |
4 |
147,667,702 (GRCm39) |
missense |
probably benign |
|
R5533:Zfp985
|
UTSW |
4 |
147,667,440 (GRCm39) |
nonsense |
probably null |
|
R6282:Zfp985
|
UTSW |
4 |
147,667,805 (GRCm39) |
missense |
probably benign |
0.00 |
R6303:Zfp985
|
UTSW |
4 |
147,668,232 (GRCm39) |
missense |
probably benign |
0.01 |
R6609:Zfp985
|
UTSW |
4 |
147,668,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R6609:Zfp985
|
UTSW |
4 |
147,667,578 (GRCm39) |
missense |
probably benign |
|
R6722:Zfp985
|
UTSW |
4 |
147,667,528 (GRCm39) |
missense |
probably benign |
0.26 |
R6858:Zfp985
|
UTSW |
4 |
147,667,764 (GRCm39) |
nonsense |
probably null |
|
R7064:Zfp985
|
UTSW |
4 |
147,667,573 (GRCm39) |
missense |
probably benign |
0.20 |
R7216:Zfp985
|
UTSW |
4 |
147,667,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R7471:Zfp985
|
UTSW |
4 |
147,667,388 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7583:Zfp985
|
UTSW |
4 |
147,667,946 (GRCm39) |
nonsense |
probably null |
|
R7685:Zfp985
|
UTSW |
4 |
147,667,331 (GRCm39) |
missense |
probably benign |
0.00 |
R8242:Zfp985
|
UTSW |
4 |
147,668,639 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8504:Zfp985
|
UTSW |
4 |
147,667,883 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8780:Zfp985
|
UTSW |
4 |
147,668,412 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8785:Zfp985
|
UTSW |
4 |
147,668,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R9485:Zfp985
|
UTSW |
4 |
147,668,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R9513:Zfp985
|
UTSW |
4 |
147,667,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R9631:Zfp985
|
UTSW |
4 |
147,665,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R9722:Zfp985
|
UTSW |
4 |
147,667,618 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9786:Zfp985
|
UTSW |
4 |
147,668,047 (GRCm39) |
missense |
probably benign |
|
X0050:Zfp985
|
UTSW |
4 |
147,667,728 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAGGTTCTTCTGAGGATACATGTAG -3'
(R):5'- TGGATTCCTTGATTGAGACTAATGG -3'
Sequencing Primer
(F):5'- GAGAGAGAGAGAGAGAGACCTC -3'
(R):5'- ACAAACTTACACTGTTTACAGAGTC -3'
|
Posted On |
2015-08-18 |