Incidental Mutation 'R5105:Zmym6'
| ID |
401976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmym6
|
| Ensembl Gene |
ENSMUSG00000042408 |
| Gene Name |
zinc finger, MYM-type 6 |
| Synonyms |
9330177P20Rik, Zfp258, D4Wsu24e |
| MMRRC Submission |
042693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5105 (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 127017551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1019
(I1019V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046751]
[ENSMUST00000094712]
[ENSMUST00000094713]
[ENSMUST00000106097]
|
| AlphaFold |
Q8BS54 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046751
AA Change: I1111V
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000045366
Gene: ENSMUSG00000042408
AA Change: I1111V
| 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: ENSMUST00000094712
|
| SMART Domains |
Protein: ENSMUSP00000092302
Gene: ENSMUSG00000070737
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DoxX
|
5 |
103 |
9e-9 |
PFAM |
|
Pfam:DoxX_2
|
7 |
124 |
4.8e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094713
AA Change: I1019V
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000092303
Gene: ENSMUSG00000042408
AA Change: I1019V
| 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 |
probably benign
Transcript: ENSMUST00000106097
|
| SMART Domains |
Protein: ENSMUSP00000101703
Gene: ENSMUSG00000070737
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DoxX_2
|
27 |
111 |
8.1e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.0801 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
96% (52/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btbd8 |
T |
G |
5: 107,658,337 (GRCm39) |
S1124A |
possibly damaging |
Het |
| Camsap1 |
A |
G |
2: 25,830,941 (GRCm39) |
S445P |
probably damaging |
Het |
| Ccdc92 |
G |
A |
5: 124,912,858 (GRCm39) |
P224S |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,741,939 (GRCm39) |
V125A |
probably benign |
Het |
| Cep192 |
T |
A |
18: 67,999,612 (GRCm39) |
C2159S |
probably benign |
Het |
| Col1a1 |
G |
T |
11: 94,833,211 (GRCm39) |
R404L |
unknown |
Het |
| Col6a3 |
A |
T |
1: 90,725,862 (GRCm39) |
M1382K |
possibly damaging |
Het |
| Cyp4a12b |
T |
C |
4: 115,290,958 (GRCm39) |
S329P |
probably damaging |
Het |
| Dclk1 |
T |
G |
3: 55,163,360 (GRCm39) |
S151A |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,894,864 (GRCm39) |
V202E |
probably benign |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,888,546 (GRCm39) |
E3050G |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,584,366 (GRCm39) |
F590I |
probably damaging |
Het |
| Eif4b |
T |
C |
15: 101,992,631 (GRCm39) |
Y63H |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,520,110 (GRCm39) |
E452G |
possibly damaging |
Het |
| Gpx3 |
A |
T |
11: 54,797,980 (GRCm39) |
T39S |
possibly damaging |
Het |
| Grin2b |
T |
A |
6: 135,709,439 (GRCm39) |
Y1369F |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,667,396 (GRCm39) |
N350K |
probably benign |
Het |
| Kdm5d |
A |
G |
Y: 941,752 (GRCm39) |
K1318E |
probably benign |
Het |
| Large1 |
A |
T |
8: 73,578,872 (GRCm39) |
Y444* |
probably null |
Het |
| Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,091,435 (GRCm39) |
|
probably null |
Het |
| Lrrc47 |
A |
G |
4: 154,096,673 (GRCm39) |
Q156R |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,704,632 (GRCm39) |
L220P |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,355,814 (GRCm39) |
D273G |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 112,988,644 (GRCm39) |
I981F |
probably damaging |
Het |
| Or1q1 |
G |
A |
2: 36,887,469 (GRCm39) |
|
probably null |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or5aq1 |
A |
G |
2: 86,966,554 (GRCm39) |
I37T |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,462 (GRCm39) |
Y74H |
probably damaging |
Het |
| Or8d6 |
T |
C |
9: 39,853,694 (GRCm39) |
V46A |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,700,585 (GRCm39) |
T1784A |
probably damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,559,490 (GRCm39) |
V422A |
possibly damaging |
Het |
| Rlf |
G |
A |
4: 121,007,564 (GRCm39) |
T472I |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,318,313 (GRCm39) |
E417G |
probably damaging |
Het |
| Shisa2 |
A |
T |
14: 59,867,263 (GRCm39) |
T172S |
possibly damaging |
Het |
| Siglec1 |
T |
A |
2: 130,922,320 (GRCm39) |
Q585L |
possibly damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,213,579 (GRCm39) |
M716K |
possibly damaging |
Het |
| Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
| Stxbp5l |
C |
A |
16: 36,962,734 (GRCm39) |
V774F |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,568,259 (GRCm39) |
F699S |
probably damaging |
Het |
| Tmem87b |
T |
C |
2: 128,673,509 (GRCm39) |
V251A |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,649,471 (GRCm39) |
N560K |
probably benign |
Het |
| Trpv4 |
T |
A |
5: 114,764,981 (GRCm39) |
I678F |
probably damaging |
Het |
| Ttc3 |
A |
T |
16: 94,267,793 (GRCm39) |
H1935L |
possibly damaging |
Het |
| Vmn2r59 |
T |
A |
7: 41,696,529 (GRCm39) |
Y71F |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,003,415 (GRCm39) |
I2900T |
probably damaging |
Het |
| Zfp184 |
A |
G |
13: 22,143,799 (GRCm39) |
T502A |
possibly damaging |
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 |
|
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 |
|
R5841:Zmym6
|
UTSW |
4 |
126,994,463 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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'- ATTCAAGTCTCCAAGGAACCATGAC -3'
(R):5'- TGCATTGACCCAAAACTGTG -3'
Sequencing Primer
(F):5'- ATTACGGCATGTTCCCTCT -3'
(R):5'- GTGAACTGACTGAAATCCCGTATCG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation