Incidental Mutation 'R5841:Zmym6'
| ID |
450427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmym6
|
| Ensembl Gene |
ENSMUSG00000042408 |
| Gene Name |
zinc finger, MYM-type 6 |
| Synonyms |
9330177P20Rik, Zfp258, D4Wsu24e |
| MMRRC Submission |
044061-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5841 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126971176-127018165 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126994463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 206
(I206V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046751]
[ENSMUST00000094713]
|
| AlphaFold |
Q8BS54 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046751
AA Change: I206V
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000045366
Gene: ENSMUSG00000042408
AA Change: I206V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TRASH
|
77 |
113 |
1e-12 |
BLAST |
|
TRASH
|
123 |
163 |
1.18e-1 |
SMART |
|
TRASH
|
197 |
231 |
5.47e3 |
SMART |
|
TRASH
|
241 |
277 |
4.01e1 |
SMART |
|
TRASH
|
349 |
385 |
2.46e1 |
SMART |
|
TRASH
|
391 |
426 |
3.32e2 |
SMART |
|
TRASH
|
434 |
472 |
2.91e-1 |
SMART |
|
TRASH
|
478 |
513 |
9.99e0 |
SMART |
|
low complexity region
|
602 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
656 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094713
AA Change: I206V
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000092303
Gene: ENSMUSG00000042408
AA Change: I206V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TRASH
|
77 |
113 |
1e-12 |
BLAST |
|
TRASH
|
123 |
163 |
1.18e-1 |
SMART |
|
TRASH
|
197 |
231 |
5.47e3 |
SMART |
|
TRASH
|
262 |
293 |
6.03e2 |
SMART |
|
TRASH
|
299 |
334 |
3.32e2 |
SMART |
|
TRASH
|
342 |
380 |
2.91e-1 |
SMART |
|
TRASH
|
386 |
421 |
9.99e0 |
SMART |
|
low complexity region
|
510 |
520 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151461
|
| Meta Mutation Damage Score |
0.0720 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
A |
T |
1: 75,150,994 (GRCm39) |
F565L |
possibly damaging |
Het |
| Abhd6 |
T |
A |
14: 8,049,596 (GRCm38) |
V188D |
probably benign |
Het |
| Bbs12 |
T |
G |
3: 37,373,670 (GRCm39) |
N39K |
probably benign |
Het |
| Bend5 |
A |
G |
4: 111,290,667 (GRCm39) |
Y221C |
probably damaging |
Het |
| Brd8 |
A |
G |
18: 34,738,576 (GRCm39) |
S683P |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,715,183 (GRCm39) |
D79G |
probably damaging |
Het |
| Cdyl |
T |
C |
13: 36,056,544 (GRCm39) |
L509P |
probably damaging |
Het |
| Cenpf |
G |
T |
1: 189,389,641 (GRCm39) |
T1397N |
possibly damaging |
Het |
| Ckap5 |
T |
A |
2: 91,431,027 (GRCm39) |
M1479K |
probably benign |
Het |
| Cpsf2 |
T |
C |
12: 101,951,497 (GRCm39) |
S145P |
probably damaging |
Het |
| Cyp4a12a |
A |
T |
4: 115,183,899 (GRCm39) |
H235L |
probably benign |
Het |
| Cyp7b1 |
A |
T |
3: 18,151,670 (GRCm39) |
F181Y |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 148,946,253 (GRCm39) |
T453A |
probably benign |
Het |
| Dlgap3 |
A |
G |
4: 127,089,193 (GRCm39) |
D263G |
probably damaging |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Dync2li1 |
G |
A |
17: 84,940,990 (GRCm39) |
G69R |
probably damaging |
Het |
| Edc3 |
T |
C |
9: 57,651,885 (GRCm39) |
V331A |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ganc |
C |
T |
2: 120,242,020 (GRCm39) |
T66I |
possibly damaging |
Het |
| Gm11595 |
C |
A |
11: 99,663,143 (GRCm39) |
C179F |
unknown |
Het |
| Gnptg |
A |
G |
17: 25,454,391 (GRCm39) |
S159P |
probably damaging |
Het |
| Gsdmc2 |
C |
T |
15: 63,698,059 (GRCm39) |
V349I |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,259,846 (GRCm39) |
I2606T |
possibly damaging |
Het |
| Ino80d |
A |
G |
1: 63,097,999 (GRCm39) |
S632P |
probably damaging |
Het |
| Kcnn2 |
G |
A |
18: 45,692,463 (GRCm39) |
R13H |
probably benign |
Het |
| Klb |
A |
T |
5: 65,536,667 (GRCm39) |
K666* |
probably null |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Kpna7 |
T |
C |
5: 144,930,766 (GRCm39) |
I360V |
possibly damaging |
Het |
| Lmbrd2 |
A |
G |
15: 9,182,657 (GRCm39) |
K576E |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,310,497 (GRCm39) |
Y2692F |
probably benign |
Het |
| Meis2 |
T |
A |
2: 115,889,145 (GRCm39) |
E202D |
probably benign |
Het |
| Mgat4c |
A |
T |
10: 102,224,826 (GRCm39) |
T347S |
probably damaging |
Het |
| Mmp12 |
G |
A |
9: 7,347,501 (GRCm39) |
C26Y |
possibly damaging |
Het |
| Mrpl24 |
G |
A |
3: 87,830,292 (GRCm39) |
R145Q |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Mycbpap |
T |
A |
11: 94,396,436 (GRCm39) |
R135W |
probably damaging |
Het |
| Myo1g |
T |
A |
11: 6,457,000 (GRCm39) |
Y942F |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,200,911 (GRCm39) |
K52R |
probably null |
Het |
| Ncf2 |
A |
T |
1: 152,697,269 (GRCm39) |
|
silent |
Het |
| Nherf2 |
A |
T |
17: 24,863,851 (GRCm39) |
M8K |
probably benign |
Het |
| Or51f1e |
T |
C |
7: 102,747,161 (GRCm39) |
F71S |
probably damaging |
Het |
| Otx1 |
T |
C |
11: 21,948,594 (GRCm39) |
|
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,965,429 (GRCm39) |
V532D |
possibly damaging |
Het |
| Pik3r5 |
T |
C |
11: 68,383,096 (GRCm39) |
L305P |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,898 (GRCm39) |
R324* |
probably null |
Het |
| Polr3a |
A |
T |
14: 24,500,766 (GRCm39) |
C1341S |
probably benign |
Het |
| Ppp1r3a |
T |
C |
6: 14,718,983 (GRCm39) |
T644A |
probably benign |
Het |
| Pramel22 |
A |
G |
4: 143,382,109 (GRCm39) |
S196P |
possibly damaging |
Het |
| Ptbp1 |
A |
G |
10: 79,695,766 (GRCm39) |
D289G |
probably benign |
Het |
| Pwp2 |
A |
G |
10: 78,007,952 (GRCm39) |
F868L |
probably benign |
Het |
| Rgs8 |
A |
G |
1: 153,568,574 (GRCm39) |
E153G |
probably damaging |
Het |
| Rhbdf2 |
G |
A |
11: 116,493,180 (GRCm39) |
|
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,192,271 (GRCm39) |
H78R |
probably damaging |
Het |
| Sdr16c6 |
C |
T |
4: 4,062,728 (GRCm39) |
A197T |
possibly damaging |
Het |
| Slc36a3 |
A |
T |
11: 55,016,547 (GRCm39) |
Y349* |
probably null |
Het |
| Slc38a9 |
T |
C |
13: 112,831,856 (GRCm39) |
L202P |
possibly damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,951,509 (GRCm39) |
M216K |
probably damaging |
Het |
| Srebf1 |
T |
A |
11: 60,094,410 (GRCm39) |
Q568H |
possibly damaging |
Het |
| Srp54b |
A |
G |
12: 55,299,614 (GRCm39) |
N315S |
probably benign |
Het |
| Strc |
A |
G |
2: 121,196,358 (GRCm39) |
F1557L |
probably benign |
Het |
| Susd3 |
C |
A |
13: 49,392,202 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
G |
A |
14: 20,600,351 (GRCm39) |
T1462I |
probably benign |
Het |
| Vmn1r11 |
T |
A |
6: 57,114,787 (GRCm39) |
N150K |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,231,958 (GRCm39) |
H606Y |
probably benign |
Het |
|
| Other mutations in Zmym6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Zmym6
|
APN |
4 |
126,995,742 (GRCm39) |
nonsense |
probably null |
|
|
IGL00486:Zmym6
|
APN |
4 |
127,017,978 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01017:Zmym6
|
APN |
4 |
126,982,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01385:Zmym6
|
APN |
4 |
127,017,899 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01577:Zmym6
|
APN |
4 |
126,999,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01654:Zmym6
|
APN |
4 |
127,017,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01736:Zmym6
|
APN |
4 |
127,002,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01824:Zmym6
|
APN |
4 |
127,002,499 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01916:Zmym6
|
APN |
4 |
127,017,549 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01985:Zmym6
|
APN |
4 |
126,994,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02056:Zmym6
|
APN |
4 |
126,997,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:Zmym6
|
APN |
4 |
126,972,295 (GRCm39) |
nonsense |
probably null |
|
|
IGL02754:Zmym6
|
APN |
4 |
127,003,764 (GRCm39) |
splice site |
probably benign |
|
|
IGL03344:Zmym6
|
APN |
4 |
127,014,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03412:Zmym6
|
APN |
4 |
126,986,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0335:Zmym6
|
UTSW |
4 |
127,016,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0448:Zmym6
|
UTSW |
4 |
127,002,487 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0463:Zmym6
|
UTSW |
4 |
127,016,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0538:Zmym6
|
UTSW |
4 |
127,017,162 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0789:Zmym6
|
UTSW |
4 |
127,016,615 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0798:Zmym6
|
UTSW |
4 |
126,997,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1311:Zmym6
|
UTSW |
4 |
127,017,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1351:Zmym6
|
UTSW |
4 |
127,016,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1429:Zmym6
|
UTSW |
4 |
127,017,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1636:Zmym6
|
UTSW |
4 |
127,017,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1666:Zmym6
|
UTSW |
4 |
127,016,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1919:Zmym6
|
UTSW |
4 |
126,997,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:Zmym6
|
UTSW |
4 |
126,982,208 (GRCm39) |
nonsense |
probably null |
|
|
R3957:Zmym6
|
UTSW |
4 |
127,017,089 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3978:Zmym6
|
UTSW |
4 |
127,017,348 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4417:Zmym6
|
UTSW |
4 |
126,986,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Zmym6
|
UTSW |
4 |
127,017,009 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4802:Zmym6
|
UTSW |
4 |
127,017,009 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5052:Zmym6
|
UTSW |
4 |
127,017,767 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5105:Zmym6
|
UTSW |
4 |
127,017,551 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5217:Zmym6
|
UTSW |
4 |
126,999,167 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5682:Zmym6
|
UTSW |
4 |
126,998,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5991:Zmym6
|
UTSW |
4 |
127,002,266 (GRCm39) |
splice site |
probably null |
|
|
R6478:Zmym6
|
UTSW |
4 |
127,017,176 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7014:Zmym6
|
UTSW |
4 |
127,017,337 (GRCm39) |
nonsense |
probably null |
|
|
R7287:Zmym6
|
UTSW |
4 |
127,016,775 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7290:Zmym6
|
UTSW |
4 |
127,017,294 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7371:Zmym6
|
UTSW |
4 |
126,998,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7967:Zmym6
|
UTSW |
4 |
127,016,453 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8237:Zmym6
|
UTSW |
4 |
127,016,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8306:Zmym6
|
UTSW |
4 |
127,016,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8312:Zmym6
|
UTSW |
4 |
127,017,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9090:Zmym6
|
UTSW |
4 |
127,017,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9216:Zmym6
|
UTSW |
4 |
127,002,500 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9271:Zmym6
|
UTSW |
4 |
127,017,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9695:Zmym6
|
UTSW |
4 |
127,016,340 (GRCm39) |
missense |
probably benign |
|
|
X0025:Zmym6
|
UTSW |
4 |
127,016,143 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
X0067:Zmym6
|
UTSW |
4 |
126,998,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zmym6
|
UTSW |
4 |
127,017,590 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGTATATTAGTGAACAAGTGTGCA -3'
(R):5'- CAGTTCTTCAAAAGTAAATCAGTCTTG -3'
Sequencing Primer
(F):5'- GTGTGCACACCATAGCATATGTG -3'
(R):5'- GCAACAGCAGTTATGGTCA -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation