Incidental Mutation 'R8353:Zmym4'
| ID |
660523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmym4
|
| Ensembl Gene |
ENSMUSG00000042446 |
| Gene Name |
zinc finger, MYM-type 4 |
| Synonyms |
Zfp262, 6330503C17Rik |
| MMRRC Submission |
067805-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.586)
|
| Stock # |
R8353 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126755732-126861928 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126800905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 565
(Y565F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106108]
|
| AlphaFold |
A2A791 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106108
AA Change: Y565F
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101714
Gene: ENSMUSG00000042446
AA Change: Y565F
| 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 |
probably benign
Transcript: ENSMUST00000135003
|
| SMART Domains |
Protein: ENSMUSP00000120813
Gene: ENSMUSG00000042446
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
T |
C |
11: 76,310,659 (GRCm39) |
T752A |
probably damaging |
Het |
| Adar |
A |
G |
3: 89,657,569 (GRCm39) |
T508A |
possibly damaging |
Het |
| Atxn3 |
T |
A |
12: 101,912,159 (GRCm39) |
K85I |
probably benign |
Het |
| Atxn7l1 |
G |
T |
12: 33,197,882 (GRCm39) |
W50L |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,165,251 (GRCm39) |
V894A |
probably damaging |
Het |
| Bloc1s3 |
G |
T |
7: 19,241,324 (GRCm39) |
T68K |
probably benign |
Het |
| Bmerb1 |
T |
A |
16: 13,855,877 (GRCm39) |
|
probably null |
Het |
| Brd10 |
T |
C |
19: 29,731,242 (GRCm39) |
H590R |
possibly damaging |
Het |
| C130073F10Rik |
C |
T |
4: 101,747,881 (GRCm39) |
|
probably null |
Het |
| Cd55b |
T |
C |
1: 130,341,870 (GRCm39) |
I256V |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,703,734 (GRCm39) |
D72E |
probably benign |
Het |
| Cep41 |
T |
C |
6: 30,658,891 (GRCm39) |
D152G |
probably benign |
Het |
| Cip2a |
C |
T |
16: 48,821,436 (GRCm39) |
Q181* |
probably null |
Het |
| Cpne8 |
C |
A |
15: 90,425,496 (GRCm39) |
K285N |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 47,813,349 (GRCm39) |
I1061K |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,805,953 (GRCm39) |
N2255Y |
probably damaging |
Het |
| Cym |
T |
A |
3: 107,129,025 (GRCm39) |
|
probably benign |
Het |
| Cyp2d9 |
T |
C |
15: 82,336,720 (GRCm39) |
V23A |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,005,159 (GRCm39) |
I2365K |
probably benign |
Het |
| Dock5 |
C |
T |
14: 68,054,957 (GRCm39) |
|
probably null |
Het |
| Dop1a |
A |
T |
9: 86,403,639 (GRCm39) |
H1613L |
probably damaging |
Het |
| Dusp5 |
T |
C |
19: 53,518,113 (GRCm39) |
V122A |
possibly damaging |
Het |
| Emc6 |
A |
G |
11: 73,067,399 (GRCm39) |
L44P |
probably damaging |
Het |
| Fbxl6 |
G |
T |
15: 76,422,678 (GRCm39) |
T80K |
probably benign |
Het |
| Frrs1 |
T |
A |
3: 116,692,822 (GRCm39) |
M32K |
possibly damaging |
Het |
| Gfod1 |
A |
G |
13: 43,354,366 (GRCm39) |
V203A |
possibly damaging |
Het |
| Gjc2 |
G |
A |
11: 59,067,840 (GRCm39) |
A214V |
unknown |
Het |
| Gkn2 |
T |
C |
6: 87,355,135 (GRCm39) |
Y115H |
probably damaging |
Het |
| Gpatch1 |
A |
C |
7: 34,976,704 (GRCm39) |
|
probably benign |
Het |
| Hemgn |
G |
T |
4: 46,403,935 (GRCm39) |
P20Q |
possibly damaging |
Het |
| Herc1 |
G |
T |
9: 66,415,571 (GRCm39) |
V4849L |
possibly damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,275,353 (GRCm39) |
|
probably null |
Het |
| Htt |
C |
A |
5: 35,034,499 (GRCm39) |
T1990N |
possibly damaging |
Het |
| Jrk |
C |
T |
15: 74,578,474 (GRCm39) |
W270* |
probably null |
Het |
| Katnb1 |
A |
G |
8: 95,822,072 (GRCm39) |
D266G |
probably damaging |
Het |
| Klhl42 |
A |
G |
6: 147,009,421 (GRCm39) |
K420R |
probably damaging |
Het |
| Lamb1 |
C |
A |
12: 31,356,998 (GRCm39) |
T1035K |
probably damaging |
Het |
| Laptm5 |
T |
C |
4: 130,656,079 (GRCm39) |
|
probably null |
Het |
| Lilra5 |
T |
C |
7: 4,240,971 (GRCm39) |
S22P |
probably benign |
Het |
| Mn1 |
A |
G |
5: 111,568,505 (GRCm39) |
N825S |
possibly damaging |
Het |
| Mup17 |
C |
T |
4: 61,510,419 (GRCm39) |
|
probably null |
Het |
| Ncapd3 |
T |
A |
9: 26,983,100 (GRCm39) |
D949E |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,570,155 (GRCm39) |
E230G |
probably damaging |
Het |
| Nxnl1 |
A |
G |
8: 72,015,512 (GRCm39) |
V132A |
probably damaging |
Het |
| Oard1 |
A |
G |
17: 48,723,788 (GRCm39) |
I145V |
probably benign |
Het |
| Pabpc4 |
T |
G |
4: 123,189,846 (GRCm39) |
L555R |
probably benign |
Het |
| Ppp1r11 |
G |
T |
17: 37,260,866 (GRCm39) |
S21R |
possibly damaging |
Het |
| Prr36 |
T |
C |
8: 4,263,831 (GRCm39) |
|
probably benign |
Het |
| Serpina1a |
T |
A |
12: 103,822,038 (GRCm39) |
D298V |
probably benign |
Het |
| Sqle |
A |
T |
15: 59,196,314 (GRCm39) |
H369L |
possibly damaging |
Het |
| Stambp |
T |
C |
6: 83,538,881 (GRCm39) |
E173G |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,300,983 (GRCm39) |
N915S |
probably damaging |
Het |
| Tjap1 |
C |
A |
17: 46,593,530 (GRCm39) |
|
probably benign |
Het |
| Tmem62 |
A |
C |
2: 120,814,817 (GRCm39) |
K30T |
probably damaging |
Het |
| Tmtc1 |
T |
C |
6: 148,327,346 (GRCm39) |
T56A |
probably benign |
Het |
| Trav6-4 |
A |
T |
14: 53,691,946 (GRCm39) |
M18L |
probably benign |
Het |
| Trim69 |
T |
C |
2: 121,998,490 (GRCm39) |
I154T |
possibly damaging |
Het |
| Uggt1 |
T |
C |
1: 36,209,377 (GRCm39) |
|
probably null |
Het |
| Usp48 |
T |
A |
4: 137,350,693 (GRCm39) |
M60K |
probably benign |
Het |
| Usp7 |
A |
G |
16: 8,513,735 (GRCm39) |
S753P |
probably benign |
Het |
| Vmn2r27 |
A |
C |
6: 124,169,404 (GRCm39) |
N575K |
probably damaging |
Het |
| Wdfy4 |
A |
C |
14: 32,695,581 (GRCm39) |
D2672E |
probably benign |
Het |
| Zdhhc17 |
G |
A |
10: 110,845,803 (GRCm39) |
P30L |
probably benign |
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 |
|
R5614:Zmym4
|
UTSW |
4 |
126,804,729 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
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 |
|
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'- AATCCATTCAGTAAGGGGATGC -3'
(R):5'- ATTGACTCCTGCTACCACAC -3'
Sequencing Primer
(F):5'- TTCAGTAAGGGGATGCATAAATAGGC -3'
(R):5'- TCCTGCTACCACACATAAAAAGTAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation