Incidental Mutation 'R3957:Zmym6'
| ID |
310751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmym6
|
| Ensembl Gene |
ENSMUSG00000042408 |
| Gene Name |
zinc finger, MYM-type 6 |
| Synonyms |
9330177P20Rik, Zfp258, D4Wsu24e |
| MMRRC Submission |
040931-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3957 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
126971176-127018165 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127017089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 957
(S957P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046751]
[ENSMUST00000094712]
[ENSMUST00000094713]
[ENSMUST00000106097]
|
| AlphaFold |
Q8BS54 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046751
AA Change: S957P
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000045366
Gene: ENSMUSG00000042408
AA Change: S957P
| 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: S865P
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092303
Gene: ENSMUSG00000042408
AA Change: S865P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,100,805 (GRCm39) |
K393E |
possibly damaging |
Het |
| Acsm4 |
A |
T |
7: 119,302,588 (GRCm39) |
M238L |
possibly damaging |
Het |
| Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,117,012 (GRCm39) |
I579L |
probably benign |
Het |
| Canx |
A |
G |
11: 50,199,210 (GRCm39) |
V153A |
probably damaging |
Het |
| Cdan1 |
A |
G |
2: 120,556,113 (GRCm39) |
Y718H |
probably damaging |
Het |
| Cdan1 |
G |
A |
2: 120,561,501 (GRCm39) |
|
probably benign |
Het |
| Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
| Dach1 |
T |
C |
14: 98,077,545 (GRCm39) |
T561A |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
| Dhx29 |
C |
T |
13: 113,067,455 (GRCm39) |
A112V |
probably benign |
Het |
| Fanca |
G |
A |
8: 124,043,102 (GRCm39) |
R95C |
probably benign |
Het |
| Fat4 |
C |
A |
3: 39,036,495 (GRCm39) |
N3382K |
probably benign |
Het |
| Fkbp15 |
A |
C |
4: 62,252,489 (GRCm39) |
F290L |
probably benign |
Het |
| Fkbp8 |
T |
G |
8: 70,987,517 (GRCm39) |
S376A |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,894,918 (GRCm39) |
Y1883H |
possibly damaging |
Het |
| Ighv3-4 |
T |
A |
12: 114,217,300 (GRCm39) |
Q97L |
probably damaging |
Het |
| Igkv15-103 |
A |
T |
6: 68,414,903 (GRCm39) |
Y114F |
probably benign |
Het |
| Kera |
G |
A |
10: 97,448,707 (GRCm39) |
R309H |
probably benign |
Het |
| Kif1a |
T |
A |
1: 92,953,416 (GRCm39) |
H1256L |
probably damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Lmx1b |
T |
C |
2: 33,459,106 (GRCm39) |
E149G |
probably damaging |
Het |
| Me2 |
A |
G |
18: 73,914,203 (GRCm39) |
F443L |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,980,589 (GRCm39) |
S307R |
probably damaging |
Het |
| Mettl25b |
T |
C |
3: 87,834,135 (GRCm39) |
K116R |
possibly damaging |
Het |
| Mocs2 |
T |
A |
13: 114,961,803 (GRCm39) |
|
probably null |
Het |
| Nek7 |
C |
A |
1: 138,462,127 (GRCm39) |
C79F |
probably damaging |
Het |
| Or14j6 |
A |
T |
17: 38,214,500 (GRCm39) |
H21L |
probably benign |
Het |
| Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
| Or5al1 |
A |
G |
2: 85,990,282 (GRCm39) |
V144A |
probably benign |
Het |
| Or5d43 |
A |
G |
2: 88,105,348 (GRCm39) |
F15S |
probably damaging |
Het |
| Ovch2 |
G |
A |
7: 107,388,318 (GRCm39) |
L421F |
probably damaging |
Het |
| Pan2 |
C |
T |
10: 128,151,046 (GRCm39) |
R806C |
probably damaging |
Het |
| Plod3 |
A |
T |
5: 137,023,046 (GRCm39) |
H616L |
probably damaging |
Het |
| Plxnb3 |
T |
C |
X: 72,814,826 (GRCm39) |
V1789A |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Tbc1d9 |
C |
T |
8: 83,960,161 (GRCm39) |
T138I |
probably damaging |
Het |
| Tdrkh |
A |
G |
3: 94,335,556 (GRCm39) |
N383S |
probably damaging |
Het |
| Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
| Trub1 |
G |
A |
19: 57,473,798 (GRCm39) |
A239T |
possibly damaging |
Het |
| Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,799,593 (GRCm39) |
V429A |
possibly damaging |
Het |
| Unc13b |
A |
G |
4: 43,256,834 (GRCm39) |
Y3962C |
probably damaging |
Het |
| Usp3 |
T |
C |
9: 66,469,873 (GRCm39) |
T83A |
probably benign |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,358 (GRCm39) |
Y257N |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,654,395 (GRCm39) |
T722A |
probably 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 |
|
|
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 |
|
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'- GAGTCCAGGTGGTTTGCC -3'
(R):5'- ATACCTGGCCAAATCTGAATGCT -3'
Sequencing Primer
(F):5'- TCTCCGAGCACAGATCTTGAAGTG -3'
(R):5'- CCAGCGTACTTCAGCATT -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation