Incidental Mutation 'R5991:Zmym6'
| ID |
482150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmym6
|
| Ensembl Gene |
ENSMUSG00000042408 |
| Gene Name |
zinc finger, MYM-type 6 |
| Synonyms |
9330177P20Rik, Zfp258, D4Wsu24e |
| MMRRC Submission |
044171-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5991 (G1)
|
| Quality Score |
194.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126971176-127018165 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 127002266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046751]
[ENSMUST00000094713]
|
| AlphaFold |
Q8BS54 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046751
|
| SMART Domains |
Protein: ENSMUSP00000045366
Gene: ENSMUSG00000042408
| 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 null
Transcript: ENSMUST00000094713
|
| SMART Domains |
Protein: ENSMUSP00000092303
Gene: ENSMUSG00000042408
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158357
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
| Validation Efficiency |
96% (53/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
G |
A |
8: 111,777,032 (GRCm39) |
R683Q |
probably damaging |
Het |
| Adam8 |
T |
A |
7: 139,570,200 (GRCm39) |
H69L |
probably damaging |
Het |
| Bbs2 |
G |
T |
8: 94,824,914 (GRCm39) |
R23S |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,974,206 (GRCm39) |
C2369* |
probably null |
Het |
| Capn11 |
G |
T |
17: 45,970,278 (GRCm39) |
|
probably null |
Het |
| Carmil2 |
A |
G |
8: 106,418,023 (GRCm39) |
Q679R |
probably null |
Het |
| Cep120 |
T |
C |
18: 53,854,870 (GRCm39) |
I422V |
probably benign |
Het |
| Cnot7 |
A |
C |
8: 40,948,696 (GRCm39) |
|
probably null |
Het |
| Col1a1 |
T |
C |
11: 94,828,745 (GRCm39) |
V29A |
unknown |
Het |
| Dnttip1 |
A |
T |
2: 164,596,100 (GRCm39) |
Q115L |
possibly damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,857,188 (GRCm39) |
V497A |
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,532,667 (GRCm39) |
D1635G |
unknown |
Het |
| Ercc5 |
T |
A |
1: 44,219,990 (GRCm39) |
C1087* |
probably null |
Het |
| Fap |
A |
T |
2: 62,348,865 (GRCm39) |
M517K |
probably damaging |
Het |
| Focad |
C |
A |
4: 88,319,256 (GRCm39) |
D1574E |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,820,812 (GRCm39) |
P5515L |
probably benign |
Het |
| Gpr158 |
T |
C |
2: 21,373,319 (GRCm39) |
Y85H |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,896,117 (GRCm39) |
V1222A |
possibly damaging |
Het |
| Hipk3 |
C |
T |
2: 104,268,328 (GRCm39) |
M546I |
probably damaging |
Het |
| Jup |
T |
C |
11: 100,270,395 (GRCm39) |
N371D |
possibly damaging |
Het |
| Ltbp4 |
A |
G |
7: 27,008,741 (GRCm39) |
Y1262H |
probably damaging |
Het |
| Lyar |
A |
G |
5: 38,385,209 (GRCm39) |
E83G |
probably damaging |
Het |
| Lyg2 |
C |
T |
1: 37,954,800 (GRCm39) |
|
probably null |
Het |
| Mtmr11 |
T |
A |
3: 96,075,905 (GRCm39) |
|
probably null |
Het |
| Myct1 |
A |
T |
10: 5,554,426 (GRCm39) |
R98* |
probably null |
Het |
| Nol11 |
T |
C |
11: 107,061,971 (GRCm39) |
T612A |
probably benign |
Het |
| Or2l5 |
T |
C |
16: 19,333,507 (GRCm39) |
N293S |
probably damaging |
Het |
| Or4b1d |
T |
A |
2: 89,968,578 (GRCm39) |
K302* |
probably null |
Het |
| Or4c113 |
C |
T |
2: 88,885,126 (GRCm39) |
V215I |
probably benign |
Het |
| Or4f61 |
C |
T |
2: 111,922,960 (GRCm39) |
V29M |
probably benign |
Het |
| Or5m9 |
A |
G |
2: 85,877,254 (GRCm39) |
I143V |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,661,827 (GRCm39) |
P1403S |
probably benign |
Het |
| Pcdhb3 |
T |
C |
18: 37,434,561 (GRCm39) |
S176P |
probably benign |
Het |
| Pdcd1lg2 |
C |
T |
19: 29,431,867 (GRCm39) |
R212W |
probably benign |
Het |
| Plin3 |
T |
C |
17: 56,593,576 (GRCm39) |
Y46C |
probably damaging |
Het |
| Rfx7 |
G |
A |
9: 72,526,820 (GRCm39) |
E1337K |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ryr1 |
G |
T |
7: 28,804,035 (GRCm39) |
N584K |
probably damaging |
Het |
| Scmh1 |
T |
C |
4: 120,379,817 (GRCm39) |
V544A |
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,834,080 (GRCm39) |
T34M |
probably damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,443,790 (GRCm39) |
L270H |
probably damaging |
Het |
| Shoc2 |
T |
A |
19: 53,991,480 (GRCm39) |
N248K |
probably damaging |
Het |
| Sirpd |
G |
T |
3: 15,385,818 (GRCm39) |
A28E |
probably benign |
Het |
| Slc25a4 |
T |
C |
8: 46,662,373 (GRCm39) |
Y95C |
probably damaging |
Het |
| Slc4a1ap |
A |
G |
5: 31,691,413 (GRCm39) |
N403S |
possibly damaging |
Het |
| Spink10 |
T |
A |
18: 62,790,956 (GRCm39) |
W7R |
probably null |
Het |
| Ssrp1 |
A |
G |
2: 84,872,640 (GRCm39) |
K426R |
possibly damaging |
Het |
| Tbc1d24 |
G |
A |
17: 24,428,043 (GRCm39) |
|
probably benign |
Het |
| Tead3 |
A |
T |
17: 28,553,352 (GRCm39) |
|
probably null |
Het |
| Timd4 |
A |
G |
11: 46,734,030 (GRCm39) |
*344W |
probably null |
Het |
| Tmem181a |
T |
A |
17: 6,339,312 (GRCm39) |
W115R |
probably damaging |
Het |
| Tmem245 |
G |
A |
4: 56,916,733 (GRCm39) |
T65I |
probably damaging |
Het |
| Vmn1r12 |
G |
C |
6: 57,136,640 (GRCm39) |
V202L |
probably damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,423 (GRCm39) |
T178A |
probably benign |
Het |
| Vps33b |
T |
A |
7: 79,933,162 (GRCm39) |
|
probably null |
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 |
|
R5841:Zmym6
|
UTSW |
4 |
126,994,463 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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'- CAGGCTCTTCTTGAGTTCCAG -3'
(R):5'- AAACATTGTTCGTGTTCCTGG -3'
Sequencing Primer
(F):5'- TTCCAGTGAACACAGACTTTAACAG -3'
(R):5'- TGCCAATGATGTCACACTGG -3'
|
| Posted On |
2017-06-27 |
Incidental Mutation