Incidental Mutation 'R5106:Zfp985'
| ID |
392619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp985
|
| Ensembl Gene |
ENSMUSG00000065999 |
| Gene Name |
zinc finger protein 985 |
| Synonyms |
Gm13154 |
| MMRRC Submission |
042694-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.699)
|
| Stock # |
R5106 (G1)
|
| Quality Score |
103 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
147637734-147669655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 147668612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 493
(S493R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081742]
[ENSMUST00000139784]
[ENSMUST00000143885]
|
| AlphaFold |
A2A7A5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081742
AA Change: S493R
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000080438
Gene: ENSMUSG00000065999
AA Change: S493R
| 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
|
| SMART Domains |
Protein: ENSMUSP00000123296
Gene: ENSMUSG00000065999
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C1qtnf2 |
G |
A |
11: 43,376,880 (GRCm39) |
R84Q |
possibly damaging |
Het |
| Carmil2 |
T |
A |
8: 106,420,638 (GRCm39) |
|
probably null |
Het |
| Cenpf |
A |
T |
1: 189,416,005 (GRCm39) |
C107S |
probably benign |
Het |
| Cideb |
T |
C |
14: 55,991,982 (GRCm39) |
M191V |
probably benign |
Het |
| Cope |
C |
A |
8: 70,763,097 (GRCm39) |
R213S |
possibly damaging |
Het |
| Ctcf |
T |
C |
8: 106,408,130 (GRCm39) |
|
probably benign |
Het |
| Daam2 |
T |
C |
17: 49,783,489 (GRCm39) |
Y647C |
probably damaging |
Het |
| Dlg2 |
T |
C |
7: 92,091,894 (GRCm39) |
Y920H |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Fdps |
C |
A |
3: 89,006,710 (GRCm39) |
R127L |
probably damaging |
Het |
| G6pd2 |
C |
T |
5: 61,967,695 (GRCm39) |
T490I |
probably benign |
Het |
| Gm6401 |
A |
G |
14: 41,787,463 (GRCm39) |
M121T |
probably damaging |
Het |
| Gnl2 |
T |
C |
4: 124,947,329 (GRCm39) |
|
probably null |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gtf2a1l |
A |
G |
17: 89,002,073 (GRCm39) |
S310G |
possibly damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,031,983 (GRCm39) |
F500L |
probably damaging |
Het |
| Lgr4 |
A |
T |
2: 109,827,940 (GRCm39) |
H207L |
probably damaging |
Het |
| Llcfc1 |
A |
G |
6: 41,662,310 (GRCm39) |
M105V |
probably benign |
Het |
| Macroh2a1 |
A |
G |
13: 56,236,106 (GRCm39) |
V213A |
possibly damaging |
Het |
| Map2k3 |
A |
G |
11: 60,832,708 (GRCm39) |
K18E |
probably damaging |
Het |
| Mccc1 |
T |
A |
3: 36,026,713 (GRCm39) |
D528V |
probably benign |
Het |
| Nedd4l |
C |
T |
18: 65,326,376 (GRCm39) |
T568M |
probably damaging |
Het |
| Nr3c1 |
A |
C |
18: 39,619,654 (GRCm39) |
I211S |
possibly damaging |
Het |
| Nudt5 |
C |
T |
2: 5,859,640 (GRCm39) |
|
probably benign |
Het |
| Or2ag20 |
T |
A |
7: 106,464,595 (GRCm39) |
M136K |
probably damaging |
Het |
| Or5d46 |
T |
C |
2: 88,170,454 (GRCm39) |
Y182H |
probably benign |
Het |
| Or6c202 |
T |
C |
10: 128,996,106 (GRCm39) |
Y249C |
probably damaging |
Het |
| Or9k2b |
A |
T |
10: 130,016,177 (GRCm39) |
S191T |
probably benign |
Het |
| Pcid2 |
A |
T |
8: 13,129,648 (GRCm39) |
F326I |
probably damaging |
Het |
| Pcnt |
A |
T |
10: 76,237,278 (GRCm39) |
I1336N |
probably damaging |
Het |
| Pomk |
T |
C |
8: 26,476,404 (GRCm39) |
D50G |
probably benign |
Het |
| Ppp2r2a |
T |
C |
14: 67,260,546 (GRCm39) |
Y244C |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,000,027 (GRCm39) |
T706A |
probably benign |
Het |
| Rad54l |
G |
A |
4: 115,956,961 (GRCm39) |
|
probably benign |
Het |
| Raph1 |
T |
C |
1: 60,572,459 (GRCm39) |
D36G |
probably damaging |
Het |
| Rgs7 |
A |
G |
1: 174,904,416 (GRCm39) |
S166P |
possibly damaging |
Het |
| Rnf183 |
C |
G |
4: 62,346,465 (GRCm39) |
R111P |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,265,395 (GRCm39) |
D327V |
probably damaging |
Het |
| Rpl3l |
A |
G |
17: 24,951,411 (GRCm39) |
Y156C |
probably damaging |
Het |
| Slc25a54 |
G |
T |
3: 109,020,180 (GRCm39) |
C398F |
probably benign |
Het |
| Slc39a2 |
A |
G |
14: 52,132,988 (GRCm39) |
*310W |
probably null |
Het |
| Slit3 |
T |
C |
11: 35,503,194 (GRCm39) |
C464R |
probably damaging |
Het |
| Smu1 |
A |
T |
4: 40,743,104 (GRCm39) |
F345I |
possibly damaging |
Het |
| Ssc5d |
T |
A |
7: 4,939,664 (GRCm39) |
V700E |
probably benign |
Het |
| Stxbp3 |
T |
C |
3: 108,702,243 (GRCm39) |
Y521C |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,492,356 (GRCm39) |
S1061P |
probably damaging |
Het |
| Thoc5 |
T |
C |
11: 4,860,630 (GRCm39) |
S103P |
probably damaging |
Het |
| Tmem221 |
A |
G |
8: 72,008,522 (GRCm39) |
F173L |
probably benign |
Het |
| Trit1 |
T |
C |
4: 122,948,106 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,499,395 (GRCm39) |
|
probably null |
Het |
| Vmn2r38 |
C |
A |
7: 9,078,169 (GRCm39) |
V738L |
possibly damaging |
Het |
| Zfp160 |
T |
A |
17: 21,247,023 (GRCm39) |
H524Q |
probably damaging |
Het |
| Zfp791 |
T |
A |
8: 85,837,259 (GRCm39) |
K202* |
probably null |
Het |
| Zkscan7 |
T |
C |
9: 122,725,198 (GRCm39) |
|
probably benign |
Het |
| Zwilch |
A |
C |
9: 64,060,866 (GRCm39) |
F329V |
probably damaging |
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 |
|
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 |
|
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'- AGAGACCTCACAAATGTAGTGAATG -3'
(R):5'- CTGTTACAGTCTAGGAAATAGGCC -3'
Sequencing Primer
(F):5'- GTGAATGTGACAAATGCTTTACTGG -3'
(R):5'- GTAAAGGATTGTCTCGTTCACTTC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation