Incidental Mutation 'R5160:Zmym4'
| ID |
475475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmym4
|
| Ensembl Gene |
ENSMUSG00000042446 |
| Gene Name |
zinc finger, MYM-type 4 |
| Synonyms |
Zfp262, 6330503C17Rik |
| MMRRC Submission |
042742-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.586)
|
| Stock # |
R5160 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
126755732-126861928 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126763977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1354
(N1354K)
|
| 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: N1354K
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101714
Gene: ENSMUSG00000042446
AA Change: N1354K
| 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: N1013K
|
| SMART Domains |
Protein: ENSMUSP00000120813
Gene: ENSMUSG00000042446
AA Change: N1013K
| 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: ENSMUST00000150467
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
G |
A |
11: 20,662,197 (GRCm39) |
P681L |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,080,007 (GRCm39) |
R1920G |
probably damaging |
Het |
| Ano9 |
G |
A |
7: 140,684,278 (GRCm39) |
R495C |
probably damaging |
Het |
| Apoa5 |
A |
G |
9: 46,181,794 (GRCm39) |
Y290C |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,062,126 (GRCm39) |
I3536T |
possibly damaging |
Het |
| Arhgap42 |
T |
G |
9: 8,997,656 (GRCm39) |
K823T |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,768,066 (GRCm39) |
Y850C |
probably damaging |
Het |
| Cdh2 |
A |
T |
18: 16,762,644 (GRCm39) |
D433E |
probably damaging |
Het |
| Cfap100 |
A |
G |
6: 90,390,692 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,808,208 (GRCm39) |
N947D |
unknown |
Het |
| Col8a2 |
A |
G |
4: 126,204,205 (GRCm39) |
K72E |
possibly damaging |
Het |
| Ddx18 |
A |
G |
1: 121,493,608 (GRCm39) |
|
probably null |
Het |
| Dna2 |
T |
C |
10: 62,782,933 (GRCm39) |
V21A |
probably benign |
Het |
| Dnaja3 |
T |
A |
16: 4,502,152 (GRCm39) |
M52K |
probably benign |
Het |
| Fnip2 |
G |
A |
3: 79,396,298 (GRCm39) |
T504I |
probably damaging |
Het |
| Il18 |
G |
A |
9: 50,489,193 (GRCm39) |
|
probably null |
Het |
| Ina |
T |
A |
19: 47,003,519 (GRCm39) |
I109N |
probably damaging |
Het |
| Katnb1 |
G |
T |
8: 95,822,098 (GRCm39) |
V275L |
probably benign |
Het |
| Kdm6b |
C |
A |
11: 69,291,594 (GRCm39) |
|
probably benign |
Het |
| Kifc2 |
T |
A |
15: 76,547,177 (GRCm39) |
L251Q |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,738,105 (GRCm39) |
|
probably benign |
Het |
| Lcor |
T |
A |
19: 41,544,053 (GRCm39) |
V82E |
probably damaging |
Het |
| Limk2 |
A |
C |
11: 3,300,772 (GRCm39) |
V190G |
probably damaging |
Het |
| Luc7l |
A |
G |
17: 26,486,271 (GRCm39) |
D150G |
probably benign |
Het |
| Magi3 |
T |
A |
3: 103,935,224 (GRCm39) |
H903L |
possibly damaging |
Het |
| Mdh1b |
C |
T |
1: 63,764,804 (GRCm39) |
R33Q |
probably null |
Het |
| Myo9a |
T |
C |
9: 59,779,085 (GRCm39) |
F1614L |
probably benign |
Het |
| Ngly1 |
A |
G |
14: 16,281,751 (GRCm38) |
T210A |
probably damaging |
Het |
| Oas1h |
A |
G |
5: 121,009,145 (GRCm39) |
Y285C |
probably damaging |
Het |
| Or1l4b |
T |
A |
2: 37,036,815 (GRCm39) |
M197K |
probably benign |
Het |
| Or2h1 |
T |
C |
17: 37,404,616 (GRCm39) |
D50G |
possibly damaging |
Het |
| Or2y12 |
T |
C |
11: 49,426,516 (GRCm39) |
L168P |
probably damaging |
Het |
| Or4a79 |
T |
C |
2: 89,551,763 (GRCm39) |
R231G |
probably damaging |
Het |
| Or5ac25 |
C |
T |
16: 59,182,129 (GRCm39) |
G151R |
probably damaging |
Het |
| Or9s23 |
C |
T |
1: 92,501,544 (GRCm39) |
T217I |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,945,382 (GRCm39) |
S81P |
probably damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,079,480 (GRCm39) |
V74A |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,140,917 (GRCm39) |
D68G |
probably benign |
Het |
| Prkcz |
A |
T |
4: 155,377,689 (GRCm39) |
V79D |
probably benign |
Het |
| Ptpn12 |
T |
A |
5: 21,202,829 (GRCm39) |
I650F |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,501,895 (GRCm39) |
|
silent |
Het |
| Rnaseh2b |
T |
G |
14: 62,590,980 (GRCm39) |
Y56* |
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,477,272 (GRCm39) |
C4495S |
probably damaging |
Het |
| Tk1 |
A |
G |
11: 117,715,572 (GRCm39) |
I45T |
possibly damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Upp1 |
T |
C |
11: 9,085,193 (GRCm39) |
S227P |
possibly damaging |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,368 (GRCm39) |
N155Y |
probably benign |
Het |
| Wdr35 |
C |
T |
12: 9,058,487 (GRCm39) |
A548V |
probably damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,681,512 (GRCm39) |
M523K |
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,168,573 (GRCm39) |
L894P |
unknown |
Het |
| Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
| Zfp873 |
C |
T |
10: 81,896,876 (GRCm39) |
H536Y |
possibly damaging |
Het |
| Zscan20 |
A |
G |
4: 128,486,275 (GRCm39) |
S142P |
possibly 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 |
|
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 |
|
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'- CCGTAGTGACCAGTATGTAGG -3'
(R):5'- TTAGAAGCTGTGCAGGGCAG -3'
Sequencing Primer
(F):5'- GACCAGTATGTAGGTTCCATGATAC -3'
(R):5'- CAGATGTAAGGGACAAAACCATTTC -3'
|
| Posted On |
2017-04-24 |
Incidental Mutation