Incidental Mutation 'R5614:Zmym4'
| ID |
438131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmym4
|
| Ensembl Gene |
ENSMUSG00000042446 |
| Gene Name |
zinc finger, MYM-type 4 |
| Synonyms |
Zfp262, 6330503C17Rik |
| MMRRC Submission |
043275-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.586)
|
| Stock # |
R5614 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126755732-126861928 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126804729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 475
(F475L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106108]
|
| AlphaFold |
A2A791 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106108
AA Change: F475L
PolyPhen 2
Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101714
Gene: ENSMUSG00000042446
AA Change: F475L
| Domain | Start | End | E-Value | Type |
|---|
|
TRASH
|
341 |
377 |
6.53e-4 |
SMART |
|
TRASH
|
389 |
429 |
7.22e-6 |
SMART |
|
TRASH
|
441 |
479 |
1.77e0 |
SMART |
|
TRASH
|
486 |
525 |
4.95e-4 |
SMART |
|
TRASH
|
531 |
569 |
1.05e-2 |
SMART |
|
TRASH
|
579 |
615 |
2.82e1 |
SMART |
|
low complexity region
|
640 |
649 |
N/A |
INTRINSIC |
|
TRASH
|
687 |
723 |
8.49e-3 |
SMART |
|
TRASH
|
729 |
764 |
1.14e-3 |
SMART |
|
TRASH
|
772 |
810 |
4.48e-2 |
SMART |
|
TRASH
|
816 |
851 |
2.06e-1 |
SMART |
|
low complexity region
|
974 |
993 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1021 |
N/A |
INTRINSIC |
|
Pfam:DUF3504
|
1357 |
1527 |
1.7e-68 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000135003
AA Change: F223L
|
| SMART Domains |
Protein: ENSMUSP00000120813
Gene: ENSMUSG00000042446
AA Change: F223L
| Domain | Start | End | E-Value | Type |
|---|
|
TRASH
|
90 |
126 |
6.53e-4 |
SMART |
|
TRASH
|
138 |
178 |
7.22e-6 |
SMART |
|
TRASH
|
190 |
228 |
1.77e0 |
SMART |
|
TRASH
|
235 |
274 |
3.05e-4 |
SMART |
|
low complexity region
|
300 |
309 |
N/A |
INTRINSIC |
|
TRASH
|
347 |
383 |
8.49e-3 |
SMART |
|
TRASH
|
389 |
424 |
1.14e-3 |
SMART |
|
TRASH
|
432 |
470 |
4.48e-2 |
SMART |
|
TRASH
|
476 |
511 |
2.06e-1 |
SMART |
|
low complexity region
|
634 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
681 |
N/A |
INTRINSIC |
|
Pfam:DUF3504
|
1017 |
1187 |
1.5e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151026
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152489
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152952
|
| Meta Mutation Damage Score |
0.4745 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,046,132 (GRCm39) |
V1712A |
probably damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,243,783 (GRCm39) |
S333P |
probably damaging |
Het |
| Arfrp1 |
A |
G |
2: 181,001,236 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
A |
G |
4: 140,719,493 (GRCm39) |
T21A |
probably benign |
Het |
| Bud23 |
C |
A |
5: 135,087,966 (GRCm39) |
A152S |
probably benign |
Het |
| Cant1 |
T |
C |
11: 118,299,569 (GRCm39) |
D260G |
probably benign |
Het |
| Ces1b |
T |
C |
8: 93,794,836 (GRCm39) |
I254M |
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,902,832 (GRCm39) |
T375A |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,880,911 (GRCm39) |
L384P |
probably damaging |
Het |
| Chrne |
C |
T |
11: 70,505,879 (GRCm39) |
V469I |
possibly damaging |
Het |
| Clspn |
A |
G |
4: 126,474,755 (GRCm39) |
E968G |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,694,772 (GRCm39) |
|
probably benign |
Het |
| Dtx4 |
T |
C |
19: 12,459,547 (GRCm39) |
Y419C |
probably damaging |
Het |
| Fam171b |
T |
A |
2: 83,643,217 (GRCm39) |
I42N |
probably damaging |
Het |
| Fam43a |
T |
C |
16: 30,420,490 (GRCm39) |
I358T |
possibly damaging |
Het |
| Fasn |
T |
C |
11: 120,704,154 (GRCm39) |
S1422G |
probably benign |
Het |
| Fig4 |
A |
T |
10: 41,148,981 (GRCm39) |
V157E |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,573,543 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
G |
T |
2: 31,318,315 (GRCm39) |
V3887F |
probably damaging |
Het |
| Hmgcll1 |
A |
G |
9: 75,988,675 (GRCm39) |
Y182C |
probably damaging |
Het |
| Hook2 |
T |
A |
8: 85,729,137 (GRCm39) |
I585N |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,021,705 (GRCm39) |
T866A |
probably benign |
Het |
| Iqca1l |
G |
A |
5: 24,755,140 (GRCm39) |
A330V |
probably benign |
Het |
| Lrit1 |
T |
A |
14: 36,783,911 (GRCm39) |
M413K |
probably benign |
Het |
| Myl9 |
G |
A |
2: 156,623,083 (GRCm39) |
|
probably benign |
Het |
| Nelfa |
A |
T |
5: 34,077,844 (GRCm39) |
L179Q |
probably damaging |
Het |
| Nod2 |
A |
T |
8: 89,390,824 (GRCm39) |
D355V |
probably damaging |
Het |
| Npbwr1 |
A |
T |
1: 5,987,030 (GRCm39) |
S161R |
probably damaging |
Het |
| Nxpe2 |
A |
T |
9: 48,234,401 (GRCm39) |
F289I |
probably benign |
Het |
| Odf2 |
A |
G |
2: 29,810,879 (GRCm39) |
I538M |
probably damaging |
Het |
| Osbpl6 |
T |
A |
2: 76,398,453 (GRCm39) |
V379E |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,143,750 (GRCm39) |
C3859R |
possibly damaging |
Het |
| Rgs1 |
G |
T |
1: 144,121,995 (GRCm39) |
T99N |
probably benign |
Het |
| Rnf6 |
T |
C |
5: 146,154,910 (GRCm39) |
|
probably null |
Het |
| Rtp1 |
C |
A |
16: 23,249,940 (GRCm39) |
Q102K |
possibly damaging |
Het |
| Sec24c |
T |
A |
14: 20,732,806 (GRCm39) |
V123E |
possibly damaging |
Het |
| Serpini2 |
T |
C |
3: 75,165,014 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
A |
T |
10: 9,636,638 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,250,351 (GRCm39) |
S1809P |
probably damaging |
Het |
| Tgfb2 |
T |
A |
1: 186,357,710 (GRCm39) |
I394F |
probably benign |
Het |
| Thg1l |
T |
C |
11: 45,841,054 (GRCm39) |
Y175C |
possibly damaging |
Het |
| Tmem67 |
C |
A |
4: 12,061,755 (GRCm39) |
K572N |
possibly damaging |
Het |
| Tollip |
T |
C |
7: 141,445,825 (GRCm39) |
T19A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,542,451 (GRCm39) |
Y25185H |
probably damaging |
Het |
| Vgll2 |
A |
T |
10: 51,901,318 (GRCm39) |
R83* |
probably null |
Het |
| Wfdc8 |
G |
T |
2: 164,445,123 (GRCm39) |
A164E |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,111,718 (GRCm39) |
|
probably benign |
Het |
| Zfp326 |
T |
A |
5: 106,036,361 (GRCm39) |
S91T |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,906,623 (GRCm39) |
F263L |
probably damaging |
Het |
| Zfp800 |
G |
A |
6: 28,243,135 (GRCm39) |
T610I |
probably damaging |
Het |
|
| Other mutations in Zmym4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00537:Zmym4
|
APN |
4 |
126,783,851 (GRCm39) |
missense |
probably benign |
|
|
IGL00845:Zmym4
|
APN |
4 |
126,794,406 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01122:Zmym4
|
APN |
4 |
126,758,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01374:Zmym4
|
APN |
4 |
126,762,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01564:Zmym4
|
APN |
4 |
126,805,073 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02014:Zmym4
|
APN |
4 |
126,794,462 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02187:Zmym4
|
APN |
4 |
126,764,066 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02887:Zmym4
|
APN |
4 |
126,842,268 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03371:Zmym4
|
APN |
4 |
126,808,881 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03400:Zmym4
|
APN |
4 |
126,816,920 (GRCm39) |
missense |
probably benign |
0.12 |
|
arriba
|
UTSW |
4 |
126,809,415 (GRCm39) |
missense |
probably damaging |
0.97 |
|
foreclosed
|
UTSW |
4 |
126,789,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Foreshortened
|
UTSW |
4 |
126,804,729 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
levantese
|
UTSW |
4 |
126,757,961 (GRCm39) |
missense |
probably damaging |
0.99 |
|
terminated
|
UTSW |
4 |
126,819,588 (GRCm39) |
missense |
probably benign |
0.02 |
|
BB004:Zmym4
|
UTSW |
4 |
126,799,170 (GRCm39) |
missense |
probably benign |
0.42 |
|
BB014:Zmym4
|
UTSW |
4 |
126,799,170 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0149:Zmym4
|
UTSW |
4 |
126,804,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0361:Zmym4
|
UTSW |
4 |
126,804,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0423:Zmym4
|
UTSW |
4 |
126,776,112 (GRCm39) |
splice site |
probably benign |
|
|
R0532:Zmym4
|
UTSW |
4 |
126,792,194 (GRCm39) |
nonsense |
probably null |
|
|
R0745:Zmym4
|
UTSW |
4 |
126,796,496 (GRCm39) |
splice site |
probably benign |
|
|
R1183:Zmym4
|
UTSW |
4 |
126,819,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1401:Zmym4
|
UTSW |
4 |
126,804,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1446:Zmym4
|
UTSW |
4 |
126,776,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1491:Zmym4
|
UTSW |
4 |
126,776,105 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1566:Zmym4
|
UTSW |
4 |
126,804,940 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1962:Zmym4
|
UTSW |
4 |
126,796,463 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2398:Zmym4
|
UTSW |
4 |
126,816,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2930:Zmym4
|
UTSW |
4 |
126,819,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3891:Zmym4
|
UTSW |
4 |
126,798,269 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3892:Zmym4
|
UTSW |
4 |
126,798,269 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4659:Zmym4
|
UTSW |
4 |
126,842,221 (GRCm39) |
splice site |
probably null |
|
|
R4702:Zmym4
|
UTSW |
4 |
126,816,958 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5160:Zmym4
|
UTSW |
4 |
126,763,977 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5773:Zmym4
|
UTSW |
4 |
126,799,163 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6450:Zmym4
|
UTSW |
4 |
126,789,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6741:Zmym4
|
UTSW |
4 |
126,808,878 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7023:Zmym4
|
UTSW |
4 |
126,762,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7315:Zmym4
|
UTSW |
4 |
126,776,385 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7468:Zmym4
|
UTSW |
4 |
126,776,029 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7546:Zmym4
|
UTSW |
4 |
126,757,961 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7609:Zmym4
|
UTSW |
4 |
126,819,588 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7764:Zmym4
|
UTSW |
4 |
126,819,409 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7897:Zmym4
|
UTSW |
4 |
126,783,332 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7918:Zmym4
|
UTSW |
4 |
126,804,797 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7927:Zmym4
|
UTSW |
4 |
126,799,170 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8129:Zmym4
|
UTSW |
4 |
126,808,956 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8240:Zmym4
|
UTSW |
4 |
126,798,188 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8248:Zmym4
|
UTSW |
4 |
126,799,162 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8261:Zmym4
|
UTSW |
4 |
126,798,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8313:Zmym4
|
UTSW |
4 |
126,804,762 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8353:Zmym4
|
UTSW |
4 |
126,800,905 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8747:Zmym4
|
UTSW |
4 |
126,787,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8787:Zmym4
|
UTSW |
4 |
126,816,953 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8795:Zmym4
|
UTSW |
4 |
126,799,819 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8948:Zmym4
|
UTSW |
4 |
126,758,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9218:Zmym4
|
UTSW |
4 |
126,809,415 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9233:Zmym4
|
UTSW |
4 |
126,776,310 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9286:Zmym4
|
UTSW |
4 |
126,783,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9468:Zmym4
|
UTSW |
4 |
126,800,993 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9542:Zmym4
|
UTSW |
4 |
126,799,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9756:Zmym4
|
UTSW |
4 |
126,771,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9776:Zmym4
|
UTSW |
4 |
126,804,942 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
U24488:Zmym4
|
UTSW |
4 |
126,819,453 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1177:Zmym4
|
UTSW |
4 |
126,801,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTACCCAAGGTTTCAACTC -3'
(R):5'- ATGTGCCAGAAGAACGCTG -3'
Sequencing Primer
(F):5'- GGTTTCAACTCCCCTGAAATGAAG -3'
(R):5'- CGCTGTCGTAAGTCACCTC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation