Incidental Mutation 'R8948:Zmym4'
| ID |
681440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmym4
|
| Ensembl Gene |
ENSMUSG00000042446 |
| Gene Name |
zinc finger, MYM-type 4 |
| Synonyms |
Zfp262, 6330503C17Rik |
| MMRRC Submission |
068786-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.586)
|
| Stock # |
R8948 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126755732-126861928 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 126758060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 1498
(R1498H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102607]
[ENSMUST00000102608]
[ENSMUST00000106108]
|
| AlphaFold |
A2A791 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102607
|
| SMART Domains |
Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
83 |
97 |
N/A |
INTRINSIC |
|
FN3
|
113 |
391 |
8.45e1 |
SMART |
|
IG_like
|
305 |
398 |
3.57e1 |
SMART |
|
PKD
|
309 |
400 |
3.1e-1 |
SMART |
|
FN3
|
399 |
485 |
2.7e1 |
SMART |
|
PKD
|
408 |
497 |
1.87e-4 |
SMART |
|
FN3
|
502 |
676 |
4.47e1 |
SMART |
|
PKD
|
503 |
593 |
3.22e-8 |
SMART |
|
IG_like
|
508 |
591 |
1.17e1 |
SMART |
|
IG_like
|
597 |
782 |
1.66e2 |
SMART |
|
PKD
|
599 |
687 |
8.98e-7 |
SMART |
|
PKD
|
693 |
784 |
1.05e-7 |
SMART |
|
FN3
|
694 |
772 |
3.71e1 |
SMART |
|
transmembrane domain
|
927 |
949 |
N/A |
INTRINSIC |
|
low complexity region
|
995 |
1010 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102608
|
| SMART Domains |
Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
83 |
97 |
N/A |
INTRINSIC |
|
FN3
|
113 |
391 |
8.45e1 |
SMART |
|
IG_like
|
305 |
398 |
3.57e1 |
SMART |
|
PKD
|
309 |
400 |
3.1e-1 |
SMART |
|
FN3
|
399 |
485 |
2.7e1 |
SMART |
|
PKD
|
408 |
497 |
1.87e-4 |
SMART |
|
FN3
|
502 |
676 |
4.47e1 |
SMART |
|
PKD
|
503 |
593 |
3.22e-8 |
SMART |
|
IG_like
|
508 |
591 |
1.17e1 |
SMART |
|
IG_like
|
597 |
782 |
1.66e2 |
SMART |
|
PKD
|
599 |
687 |
8.98e-7 |
SMART |
|
PKD
|
693 |
784 |
1.05e-7 |
SMART |
|
FN3
|
694 |
772 |
3.71e1 |
SMART |
|
transmembrane domain
|
927 |
949 |
N/A |
INTRINSIC |
|
low complexity region
|
995 |
1010 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106108
AA Change: R1498H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101714
Gene: ENSMUSG00000042446
AA Change: R1498H
| 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: R1157H
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
T |
C |
16: 8,418,805 (GRCm39) |
I102T |
possibly damaging |
Het |
| Abca9 |
T |
C |
11: 110,054,206 (GRCm39) |
|
probably null |
Het |
| Ago3 |
T |
C |
4: 126,244,115 (GRCm39) |
|
probably null |
Het |
| Akap1 |
G |
T |
11: 88,735,099 (GRCm39) |
A75E |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,041,012 (GRCm39) |
A227E |
possibly damaging |
Het |
| Bmpr1a |
G |
T |
14: 34,163,148 (GRCm39) |
H81N |
possibly damaging |
Het |
| Camkv |
C |
T |
9: 107,824,296 (GRCm39) |
T236I |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,181,358 (GRCm39) |
E601G |
probably benign |
Het |
| Ccin |
G |
A |
4: 43,984,064 (GRCm39) |
R157H |
probably damaging |
Het |
| Cdkn3 |
C |
T |
14: 47,004,780 (GRCm39) |
P114L |
probably damaging |
Het |
| Col6a2 |
C |
T |
10: 76,446,527 (GRCm39) |
G352D |
probably damaging |
Het |
| Csf2rb |
A |
T |
15: 78,232,520 (GRCm39) |
D609V |
probably benign |
Het |
| Ctc1 |
T |
G |
11: 68,917,175 (GRCm39) |
Y110* |
probably null |
Het |
| D630023F18Rik |
T |
A |
1: 65,147,899 (GRCm39) |
N218I |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,408,212 (GRCm39) |
H1873Q |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,012,396 (GRCm39) |
D1901G |
probably damaging |
Het |
| Eddm3b |
T |
A |
14: 51,354,110 (GRCm39) |
S33T |
probably damaging |
Het |
| Efcc1 |
A |
G |
6: 87,728,768 (GRCm39) |
T408A |
probably benign |
Het |
| Epas1 |
A |
G |
17: 87,134,920 (GRCm39) |
T518A |
probably benign |
Het |
| Ergic2 |
A |
T |
6: 148,104,005 (GRCm39) |
M84K |
probably damaging |
Het |
| Ergic3 |
T |
C |
2: 155,853,160 (GRCm39) |
V201A |
probably benign |
Het |
| Espn |
C |
A |
4: 152,223,278 (GRCm39) |
W258L |
probably damaging |
Het |
| Gm45337 |
A |
G |
7: 141,697,817 (GRCm39) |
S156P |
unknown |
Het |
| Hmcn2 |
T |
C |
2: 31,244,741 (GRCm39) |
Y733H |
probably damaging |
Het |
| Itga2 |
C |
T |
13: 115,009,866 (GRCm39) |
G363D |
probably damaging |
Het |
| Kcnk5 |
T |
C |
14: 20,192,046 (GRCm39) |
R372G |
probably benign |
Het |
| Khdc4 |
G |
T |
3: 88,617,219 (GRCm39) |
S506I |
probably damaging |
Het |
| Kif11 |
T |
A |
19: 37,386,602 (GRCm39) |
D387E |
probably damaging |
Het |
| Lrrn2 |
A |
C |
1: 132,866,104 (GRCm39) |
I390L |
probably benign |
Het |
| Map2 |
G |
T |
1: 66,419,684 (GRCm39) |
R5L |
probably damaging |
Het |
| Muc16 |
C |
T |
9: 18,558,529 (GRCm39) |
R2588K |
unknown |
Het |
| Or3a10 |
A |
G |
11: 73,935,782 (GRCm39) |
F106S |
possibly damaging |
Het |
| Or5b99 |
A |
T |
19: 12,976,445 (GRCm39) |
I32F |
probably damaging |
Het |
| Or7g29 |
A |
G |
9: 19,286,262 (GRCm39) |
I305T |
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,103,530 (GRCm39) |
I178T |
probably damaging |
Het |
| Pak2 |
A |
T |
16: 31,852,729 (GRCm39) |
|
probably benign |
Het |
| Perp |
A |
T |
10: 18,729,326 (GRCm39) |
I86F |
possibly damaging |
Het |
| Plpp1 |
A |
T |
13: 112,993,511 (GRCm39) |
I149F |
probably damaging |
Het |
| Polr1f |
T |
A |
12: 33,483,526 (GRCm39) |
Y93N |
probably damaging |
Het |
| Preb |
A |
G |
5: 31,115,671 (GRCm39) |
S220P |
probably damaging |
Het |
| Prrt4 |
T |
C |
6: 29,177,665 (GRCm39) |
T35A |
probably damaging |
Het |
| Ror2 |
T |
A |
13: 53,286,032 (GRCm39) |
I73F |
possibly damaging |
Het |
| Rpl36-ps4 |
A |
G |
17: 88,228,574 (GRCm39) |
T40A |
probably damaging |
Het |
| Rsbn1 |
A |
T |
3: 103,868,830 (GRCm39) |
H623L |
possibly damaging |
Het |
| Sap30 |
C |
A |
8: 57,940,456 (GRCm39) |
A49S |
possibly damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,550,075 (GRCm39) |
T648A |
probably benign |
Het |
| Sh3pxd2a |
T |
C |
19: 47,361,882 (GRCm39) |
R83G |
probably damaging |
Het |
| Slc35e1 |
A |
T |
8: 73,246,042 (GRCm39) |
I130N |
probably damaging |
Het |
| Smchd1 |
C |
T |
17: 71,743,767 (GRCm39) |
R466Q |
probably damaging |
Het |
| Smgc |
C |
T |
15: 91,722,565 (GRCm39) |
|
probably benign |
Het |
| Stk32b |
A |
T |
5: 37,612,341 (GRCm39) |
N348K |
possibly damaging |
Het |
| Sult2a1 |
A |
G |
7: 13,530,342 (GRCm39) |
F266L |
probably damaging |
Het |
| Sult2a2 |
A |
T |
7: 13,467,484 (GRCm39) |
M1L |
probably damaging |
Het |
| Telo2 |
A |
G |
17: 25,332,085 (GRCm39) |
V161A |
probably benign |
Het |
| Tmed11 |
C |
T |
5: 108,925,293 (GRCm39) |
R173H |
probably damaging |
Het |
| Trappc6a |
G |
A |
7: 19,249,923 (GRCm39) |
|
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,522 (GRCm39) |
V819D |
probably damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,569 (GRCm39) |
I259T |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,723,340 (GRCm39) |
I286T |
probably damaging |
Het |
| Vsig10l |
A |
T |
7: 43,117,623 (GRCm39) |
I739F |
possibly damaging |
Het |
| Zfyve1 |
A |
C |
12: 83,594,802 (GRCm39) |
V730G |
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,499,288 (GRCm39) |
D1284E |
possibly damaging |
Het |
| Znhit2 |
A |
T |
19: 6,111,803 (GRCm39) |
R183* |
probably null |
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 |
|
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'- CAACAGCTGAGTGCATCACAG -3'
(R):5'- GTGTTACTGACAACGTGAGACG -3'
Sequencing Primer
(F):5'- GCATGAAAACGGGAGCTTTCCTTC -3'
(R):5'- CGGGATGGGAAGAAGTTCAGAAC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation