Incidental Mutation 'R9218:Zmym4'
| ID |
699301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmym4
|
| Ensembl Gene |
ENSMUSG00000042446 |
| Gene Name |
zinc finger, MYM-type 4 |
| Synonyms |
Zfp262, 6330503C17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.586)
|
| Stock # |
R9218 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126755732-126861928 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126809415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 295
(L295Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106108]
|
| AlphaFold |
A2A791 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106108
AA Change: L295Q
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101714
Gene: ENSMUSG00000042446
AA Change: L295Q
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000120813
Gene: ENSMUSG00000042446
AA Change: L43Q
| 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 |
|
| Meta Mutation Damage Score |
0.0780 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
93% (57/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,610,460 (GRCm39) |
T378A |
probably damaging |
Het |
| Abcb4 |
A |
G |
5: 8,977,960 (GRCm39) |
M513V |
probably benign |
Het |
| Abhd18 |
T |
C |
3: 40,871,201 (GRCm39) |
|
probably null |
Het |
| Adamtsl4 |
A |
T |
3: 95,588,404 (GRCm39) |
Y561* |
probably null |
Het |
| Alx4 |
T |
A |
2: 93,473,172 (GRCm39) |
F57I |
possibly damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,584,959 (GRCm39) |
|
probably null |
Het |
| Arsj |
A |
C |
3: 126,232,114 (GRCm39) |
N287H |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,114,529 (GRCm39) |
C1387S |
probably benign |
Het |
| Cabp4 |
T |
A |
19: 4,188,693 (GRCm39) |
|
probably null |
Het |
| Cdcp3 |
C |
T |
7: 130,863,728 (GRCm39) |
H1244Y |
unknown |
Het |
| Cdh6 |
T |
C |
15: 13,057,556 (GRCm39) |
N255S |
probably null |
Het |
| Ctrb1 |
C |
T |
8: 112,416,140 (GRCm39) |
V49M |
probably damaging |
Het |
| Cts3 |
A |
G |
13: 61,716,583 (GRCm39) |
S18P |
possibly damaging |
Het |
| Dcst1 |
A |
T |
3: 89,272,412 (GRCm39) |
I17N |
probably benign |
Het |
| Dennd5a |
G |
A |
7: 109,507,592 (GRCm39) |
H823Y |
probably damaging |
Het |
| Dmrt2 |
T |
G |
19: 25,651,066 (GRCm39) |
L84R |
possibly damaging |
Het |
| Dock9 |
G |
T |
14: 121,905,871 (GRCm39) |
T93K |
probably damaging |
Het |
| Fsip2 |
C |
T |
2: 82,823,062 (GRCm39) |
P6265L |
probably damaging |
Het |
| Fxn |
T |
A |
19: 24,239,388 (GRCm39) |
K168M |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,922,203 (GRCm39) |
L541P |
probably damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,526,354 (GRCm39) |
H364R |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Inf2 |
G |
A |
12: 112,567,858 (GRCm39) |
D163N |
possibly damaging |
Het |
| Iqcd |
C |
T |
5: 120,738,707 (GRCm39) |
P175L |
possibly damaging |
Het |
| Iqck |
C |
T |
7: 118,540,902 (GRCm39) |
A267V |
probably damaging |
Het |
| Kcnh1 |
A |
T |
1: 192,135,938 (GRCm39) |
N66I |
unknown |
Het |
| Kif16b |
T |
A |
2: 142,541,583 (GRCm39) |
E1239V |
possibly damaging |
Het |
| Mctp1 |
A |
G |
13: 76,871,816 (GRCm39) |
D362G |
possibly damaging |
Het |
| Muc5ac |
T |
A |
7: 141,361,098 (GRCm39) |
S1470T |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,183,638 (GRCm39) |
|
probably null |
Het |
| Odc1 |
T |
A |
12: 17,598,312 (GRCm39) |
L151* |
probably null |
Het |
| Or4e1 |
A |
T |
14: 52,700,788 (GRCm39) |
V226E |
probably damaging |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,431,373 (GRCm39) |
I230T |
possibly damaging |
Het |
| Otof |
T |
A |
5: 30,542,469 (GRCm39) |
Q693L |
probably benign |
Het |
| Pitpnm2 |
G |
A |
5: 124,265,344 (GRCm39) |
S753F |
probably damaging |
Het |
| Pkd1l3 |
C |
A |
8: 110,382,128 (GRCm39) |
S1632* |
probably null |
Het |
| Pkhd1l1 |
A |
G |
15: 44,384,122 (GRCm39) |
T1171A |
possibly damaging |
Het |
| Plpp2 |
A |
G |
10: 79,366,501 (GRCm39) |
F104L |
probably damaging |
Het |
| Pmaip1 |
A |
G |
18: 66,596,370 (GRCm39) |
R80G |
probably damaging |
Het |
| Pms2 |
G |
A |
5: 143,867,945 (GRCm39) |
V850I |
probably benign |
Het |
| Psmd5 |
G |
T |
2: 34,747,794 (GRCm39) |
Q288K |
probably benign |
Het |
| Rab37 |
G |
A |
11: 115,051,475 (GRCm39) |
R194H |
probably damaging |
Het |
| Sds |
C |
T |
5: 120,621,677 (GRCm39) |
A273V |
probably damaging |
Het |
| Sema4f |
A |
G |
6: 82,890,480 (GRCm39) |
S776P |
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,101,101 (GRCm39) |
C65R |
probably benign |
Het |
| Siglece |
C |
T |
7: 43,307,162 (GRCm39) |
R275H |
possibly damaging |
Het |
| Slc6a12 |
G |
A |
6: 121,335,623 (GRCm39) |
A318T |
probably damaging |
Het |
| Smcr8 |
A |
T |
11: 60,670,705 (GRCm39) |
I618L |
probably benign |
Het |
| Stt3a |
A |
G |
9: 36,670,556 (GRCm39) |
F72L |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,154,049 (GRCm39) |
K135E |
possibly damaging |
Het |
| Tmem62 |
A |
G |
2: 120,835,224 (GRCm39) |
I516M |
probably benign |
Het |
| Tnpo2 |
C |
A |
8: 85,776,609 (GRCm39) |
H439N |
possibly damaging |
Het |
| Tut4 |
A |
T |
4: 108,370,083 (GRCm39) |
K661* |
probably null |
Het |
| Txlnb |
C |
T |
10: 17,718,570 (GRCm39) |
S467F |
probably damaging |
Het |
| Tyw5 |
G |
A |
1: 57,435,948 (GRCm39) |
P81S |
probably damaging |
Het |
| Vamp2 |
A |
G |
11: 68,980,585 (GRCm39) |
D51G |
possibly damaging |
Het |
| Vmn1r220 |
T |
A |
13: 23,368,609 (GRCm39) |
Y29F |
probably benign |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,270 (GRCm39) |
T699A |
possibly damaging |
Het |
| Vps9d1 |
G |
A |
8: 123,977,674 (GRCm39) |
T87I |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,520,501 (GRCm39) |
V541A |
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 |
|
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 |
|
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'- TTCTATAGCTACTTTGGAACCCAG -3'
(R):5'- AGGCTGTTTTGGAAGCTAACAC -3'
Sequencing Primer
(F):5'- ACTTTGGAACCCAGTATTAATTATGG -3'
(R):5'- TGGAAGCTAACACTCATTTATTCTTC -3'
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| Posted On |
2022-02-07 |
Incidental Mutation