Incidental Mutation 'R1594:Zfp985'
| ID |
175550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp985
|
| Ensembl Gene |
ENSMUSG00000065999 |
| Gene Name |
zinc finger protein 985 |
| Synonyms |
Gm13154 |
| MMRRC Submission |
039631-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.699)
|
| Stock # |
R1594 (G1)
|
| Quality Score |
98 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
147637734-147669655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 147667537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 135
(V135A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081742]
[ENSMUST00000139784]
[ENSMUST00000143885]
|
| AlphaFold |
A2A7A5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081742
AA Change: V135A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000080438
Gene: ENSMUSG00000065999
AA Change: V135A
| 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 |
probably benign
Transcript: ENSMUST00000139784
AA Change: V135A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000123296
Gene: ENSMUSG00000065999
AA Change: V135A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
72 |
4.36e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143885
|
| SMART Domains |
Protein: ENSMUSP00000121177
Gene: ENSMUSG00000065999
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
72 |
4.36e-15 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.7%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
G |
A |
16: 30,946,205 (GRCm39) |
A264V |
probably benign |
Het |
| Adam17 |
A |
G |
12: 21,390,471 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
A |
G |
1: 165,352,602 (GRCm39) |
N479D |
probably benign |
Het |
| C2cd2l |
A |
G |
9: 44,228,070 (GRCm39) |
S84P |
probably damaging |
Het |
| Capn13 |
A |
G |
17: 73,658,474 (GRCm39) |
V198A |
probably benign |
Het |
| Cblc |
G |
A |
7: 19,526,471 (GRCm39) |
S206F |
probably damaging |
Het |
| Ccdc7b |
A |
T |
8: 129,904,838 (GRCm39) |
T159S |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,231,552 (GRCm39) |
T546A |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,948,870 (GRCm39) |
V214A |
possibly damaging |
Het |
| Csgalnact1 |
A |
T |
8: 68,811,284 (GRCm39) |
V462E |
probably damaging |
Het |
| Cts6 |
G |
A |
13: 61,346,181 (GRCm39) |
T202I |
probably damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,430,973 (GRCm39) |
Y435C |
probably benign |
Het |
| D630003M21Rik |
T |
A |
2: 158,053,550 (GRCm39) |
Q646L |
probably damaging |
Het |
| E2f2 |
A |
G |
4: 135,914,141 (GRCm39) |
Q297R |
possibly damaging |
Het |
| Eef1d |
T |
C |
15: 75,768,195 (GRCm39) |
E189G |
probably damaging |
Het |
| Fam114a2 |
A |
C |
11: 57,404,066 (GRCm39) |
|
probably null |
Het |
| Fam24b |
A |
C |
7: 130,928,025 (GRCm39) |
Y55D |
probably benign |
Het |
| Gimap6 |
T |
C |
6: 48,679,125 (GRCm39) |
T304A |
probably benign |
Het |
| Gm11232 |
T |
C |
4: 71,675,572 (GRCm39) |
E63G |
possibly damaging |
Het |
| Hbs1l |
A |
G |
10: 21,227,922 (GRCm39) |
M152V |
probably benign |
Het |
| Herc3 |
C |
A |
6: 58,864,569 (GRCm39) |
|
probably benign |
Het |
| Hmx2 |
A |
G |
7: 131,157,231 (GRCm39) |
D115G |
probably benign |
Het |
| Igsf3 |
C |
A |
3: 101,358,393 (GRCm39) |
Y761* |
probably null |
Het |
| Kbtbd13 |
A |
G |
9: 65,298,901 (GRCm39) |
W12R |
probably benign |
Het |
| Kif2c |
C |
A |
4: 117,035,385 (GRCm39) |
R21L |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,519,876 (GRCm39) |
N2078S |
probably benign |
Het |
| Mgst3 |
T |
A |
1: 167,201,379 (GRCm39) |
Y102F |
probably damaging |
Het |
| Mov10 |
G |
T |
3: 104,702,727 (GRCm39) |
T946N |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,344,450 (GRCm39) |
I2317N |
possibly damaging |
Het |
| Nid2 |
T |
A |
14: 19,831,329 (GRCm39) |
I741N |
probably benign |
Het |
| Nlrp9a |
G |
A |
7: 26,269,932 (GRCm39) |
W786* |
probably null |
Het |
| Or8g20 |
A |
C |
9: 39,396,042 (GRCm39) |
I166S |
probably benign |
Het |
| Or9a7 |
T |
C |
6: 40,521,281 (GRCm39) |
I211V |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,191,283 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,812,310 (GRCm39) |
|
probably benign |
Het |
| Psg16 |
A |
G |
7: 16,827,748 (GRCm39) |
T144A |
probably damaging |
Het |
| Sec24b |
A |
G |
3: 129,785,000 (GRCm39) |
V1002A |
probably benign |
Het |
| Shank1 |
A |
T |
7: 43,976,647 (GRCm39) |
K582* |
probably null |
Het |
| Slc22a7 |
T |
C |
17: 46,748,957 (GRCm39) |
D120G |
possibly damaging |
Het |
| Slco6c1 |
T |
A |
1: 96,990,163 (GRCm39) |
T676S |
probably benign |
Het |
| Sulf2 |
A |
G |
2: 165,926,367 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
T |
C |
14: 55,946,976 (GRCm39) |
D344G |
probably damaging |
Het |
| Tle4 |
C |
T |
19: 14,430,970 (GRCm39) |
W604* |
probably null |
Het |
| Tmco3 |
T |
C |
8: 13,342,052 (GRCm39) |
S109P |
probably damaging |
Het |
| Unc13d |
T |
G |
11: 115,959,538 (GRCm39) |
D647A |
probably benign |
Het |
| Usp19 |
T |
C |
9: 108,375,721 (GRCm39) |
V887A |
probably damaging |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,550 (GRCm39) |
D727E |
probably damaging |
Het |
| Ypel1 |
A |
G |
16: 16,899,985 (GRCm39) |
H72R |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,227,456 (GRCm39) |
V2051A |
probably benign |
Het |
| Zfp438 |
A |
G |
18: 5,213,515 (GRCm39) |
L481P |
possibly damaging |
Het |
| Zfp850 |
C |
A |
7: 27,688,816 (GRCm39) |
R464L |
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 |
|
|
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 |
|
R4528:Zfp985
|
UTSW |
4 |
147,667,347 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
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 |
|
| Posted On |
2014-04-24 |
Incidental Mutation