Incidental Mutation 'R7730:Zmym2'
| ID |
595785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmym2
|
| Ensembl Gene |
ENSMUSG00000021945 |
| Gene Name |
zinc finger, MYM-type 2 |
| Synonyms |
SCLL, RAMP, Zfp198, FIM, MYM |
| MMRRC Submission |
045786-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.549)
|
| Stock # |
R7730 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
57123986-57199815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57193638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 1151
(Y1151F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022511]
|
| AlphaFold |
Q9CU65 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022511
AA Change: Y1151F
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000022511
Gene: ENSMUSG00000021945
AA Change: Y1151F
| Domain | Start | End | E-Value | Type |
|---|
|
TRASH
|
330 |
366 |
1.55e-5 |
SMART |
|
TRASH
|
372 |
412 |
7.69e-1 |
SMART |
|
TRASH
|
424 |
459 |
7.5e1 |
SMART |
|
TRASH
|
466 |
505 |
6.53e-4 |
SMART |
|
Pfam:zf-FCS
|
527 |
569 |
1.8e-9 |
PFAM |
|
TRASH
|
583 |
619 |
4.79e1 |
SMART |
|
TRASH
|
638 |
674 |
8.49e-3 |
SMART |
|
TRASH
|
680 |
715 |
7.28e-2 |
SMART |
|
TRASH
|
726 |
761 |
1.95e-2 |
SMART |
|
TRASH
|
767 |
802 |
3.89e1 |
SMART |
|
low complexity region
|
881 |
895 |
N/A |
INTRINSIC |
|
low complexity region
|
904 |
917 |
N/A |
INTRINSIC |
|
low complexity region
|
1087 |
1111 |
N/A |
INTRINSIC |
|
Pfam:DUF3504
|
1191 |
1359 |
7.3e-66 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein that contains nine MYM-type zinc finger motifs. Expression of this gene may mediate the inhibition of hematopoietic cell development during ontogeny, and the encoded protein may also play a role in transforming growth factor-beta signaling as a Smad binding protein. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit prenatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
A |
11: 48,838,703 (GRCm39) |
H628L |
probably benign |
Het |
| Adam6a |
T |
A |
12: 113,507,660 (GRCm39) |
V11E |
possibly damaging |
Het |
| Amotl1 |
T |
G |
9: 14,467,059 (GRCm39) |
K660T |
possibly damaging |
Het |
| Ap4m1 |
T |
C |
5: 138,171,077 (GRCm39) |
I59T |
probably damaging |
Het |
| Brd3 |
T |
C |
2: 27,346,967 (GRCm39) |
Y389C |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Card11 |
C |
A |
5: 140,871,751 (GRCm39) |
R650L |
probably damaging |
Het |
| Cercam |
G |
A |
2: 29,762,574 (GRCm39) |
|
probably null |
Het |
| Cnst |
T |
C |
1: 179,452,650 (GRCm39) |
C673R |
probably damaging |
Het |
| Dld |
G |
T |
12: 31,390,864 (GRCm39) |
T194K |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,507,890 (GRCm39) |
W1714R |
probably damaging |
Het |
| Dsg1a |
T |
G |
18: 20,464,768 (GRCm39) |
V421G |
possibly damaging |
Het |
| Fer1l4 |
G |
T |
2: 155,890,854 (GRCm39) |
P188Q |
probably benign |
Het |
| Gpr158 |
T |
C |
2: 21,831,158 (GRCm39) |
S753P |
probably damaging |
Het |
| Hdc |
A |
T |
2: 126,436,002 (GRCm39) |
M623K |
possibly damaging |
Het |
| Herc1 |
CAACCCTGGTAAC |
CAAC |
9: 66,400,472 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,954,878 (GRCm39) |
F203I |
probably damaging |
Het |
| Jag2 |
A |
T |
12: 112,885,661 (GRCm39) |
I145N |
probably damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,446,686 (GRCm39) |
F694I |
probably benign |
Het |
| Lpl |
A |
T |
8: 69,340,100 (GRCm39) |
R32* |
probably null |
Het |
| Mcpt4 |
T |
A |
14: 56,297,428 (GRCm39) |
I243L |
probably benign |
Het |
| Mtf1 |
C |
A |
4: 124,732,412 (GRCm39) |
A490E |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,360,791 (GRCm39) |
M4497K |
probably damaging |
Het |
| Myog |
T |
C |
1: 134,218,914 (GRCm39) |
|
probably null |
Het |
| Nav2 |
T |
C |
7: 49,222,145 (GRCm39) |
S1757P |
probably damaging |
Het |
| Or7g18 |
T |
G |
9: 18,786,709 (GRCm39) |
F26V |
probably benign |
Het |
| Osmr |
T |
A |
15: 6,853,963 (GRCm39) |
I583F |
probably damaging |
Het |
| Phf19 |
T |
A |
2: 34,785,816 (GRCm39) |
E551V |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,046,533 (GRCm39) |
M870T |
probably benign |
Het |
| Psat1 |
A |
G |
19: 15,895,720 (GRCm39) |
F83L |
probably damaging |
Het |
| Reep1 |
T |
A |
6: 71,757,725 (GRCm39) |
V108D |
possibly damaging |
Het |
| Rorc |
A |
G |
3: 94,300,421 (GRCm39) |
T455A |
probably benign |
Het |
| Serinc5 |
T |
G |
13: 92,821,698 (GRCm39) |
I169S |
probably damaging |
Het |
| Serpinb6c |
T |
C |
13: 34,083,292 (GRCm39) |
M41V |
probably damaging |
Het |
| Sgsm3 |
A |
T |
15: 80,892,927 (GRCm39) |
N335Y |
probably damaging |
Het |
| Slamf7 |
C |
T |
1: 171,468,589 (GRCm39) |
R101H |
possibly damaging |
Het |
| Slc17a4 |
A |
T |
13: 24,084,503 (GRCm39) |
L427* |
probably null |
Het |
| Slc35a5 |
T |
C |
16: 44,964,246 (GRCm39) |
Q329R |
probably damaging |
Het |
| Slc45a1 |
C |
T |
4: 150,715,397 (GRCm39) |
C656Y |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,773,643 (GRCm39) |
I18T |
probably damaging |
Het |
| Syn3 |
T |
G |
10: 86,284,773 (GRCm39) |
H109P |
probably benign |
Het |
| Synj2 |
T |
C |
17: 6,066,562 (GRCm39) |
V580A |
probably benign |
Het |
| Tbc1d9b |
T |
C |
11: 50,026,742 (GRCm39) |
V70A |
possibly damaging |
Het |
| Tc2n |
A |
G |
12: 101,617,406 (GRCm39) |
Y402H |
probably damaging |
Het |
| Tmbim4 |
T |
C |
10: 120,059,767 (GRCm39) |
C164R |
possibly damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,117,470 (GRCm39) |
R262* |
probably null |
Het |
| Tnip1 |
T |
C |
11: 54,828,805 (GRCm39) |
K121E |
probably benign |
Het |
| Tut1 |
T |
C |
19: 8,941,740 (GRCm39) |
|
probably null |
Het |
| Uhrf2 |
T |
A |
19: 30,052,501 (GRCm39) |
C332S |
probably damaging |
Het |
| Vmn2r101 |
A |
G |
17: 19,831,950 (GRCm39) |
I649V |
possibly damaging |
Het |
| Vwa8 |
A |
G |
14: 79,232,589 (GRCm39) |
T644A |
probably benign |
Het |
| Zfhx2 |
T |
C |
14: 55,304,357 (GRCm39) |
H1209R |
possibly damaging |
Het |
| Zfp384 |
A |
G |
6: 125,008,635 (GRCm39) |
I306V |
probably benign |
Het |
| Zfp964 |
A |
G |
8: 70,116,360 (GRCm39) |
E320G |
possibly damaging |
Het |
|
| Other mutations in Zmym2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Zmym2
|
APN |
14 |
57,185,394 (GRCm39) |
splice site |
probably benign |
|
|
IGL00587:Zmym2
|
APN |
14 |
57,140,817 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL00736:Zmym2
|
APN |
14 |
57,140,668 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00753:Zmym2
|
APN |
14 |
57,194,517 (GRCm39) |
nonsense |
probably null |
|
|
IGL01608:Zmym2
|
APN |
14 |
57,185,472 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01744:Zmym2
|
APN |
14 |
57,184,029 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02150:Zmym2
|
APN |
14 |
57,148,526 (GRCm39) |
splice site |
probably benign |
|
|
IGL02186:Zmym2
|
APN |
14 |
57,180,808 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02654:Zmym2
|
APN |
14 |
57,148,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02960:Zmym2
|
APN |
14 |
57,175,870 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03104:Zmym2
|
APN |
14 |
57,187,784 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03162:Zmym2
|
APN |
14 |
57,151,500 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL03356:Zmym2
|
APN |
14 |
57,194,517 (GRCm39) |
nonsense |
probably null |
|
|
IGL03412:Zmym2
|
APN |
14 |
57,197,176 (GRCm39) |
nonsense |
probably null |
|
|
R5038_Zmym2_756
|
UTSW |
14 |
57,193,637 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0131:Zmym2
|
UTSW |
14 |
57,180,715 (GRCm39) |
missense |
probably benign |
|
|
R0131:Zmym2
|
UTSW |
14 |
57,180,715 (GRCm39) |
missense |
probably benign |
|
|
R0132:Zmym2
|
UTSW |
14 |
57,180,715 (GRCm39) |
missense |
probably benign |
|
|
R0270:Zmym2
|
UTSW |
14 |
57,187,141 (GRCm39) |
splice site |
probably null |
|
|
R0834:Zmym2
|
UTSW |
14 |
57,194,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1071:Zmym2
|
UTSW |
14 |
57,197,278 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1386:Zmym2
|
UTSW |
14 |
57,150,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1442:Zmym2
|
UTSW |
14 |
57,180,784 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1472:Zmym2
|
UTSW |
14 |
57,148,640 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1595:Zmym2
|
UTSW |
14 |
57,158,187 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1598:Zmym2
|
UTSW |
14 |
57,151,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1598:Zmym2
|
UTSW |
14 |
57,140,226 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1916:Zmym2
|
UTSW |
14 |
57,197,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2261:Zmym2
|
UTSW |
14 |
57,165,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2393:Zmym2
|
UTSW |
14 |
57,158,180 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2866:Zmym2
|
UTSW |
14 |
57,165,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3727:Zmym2
|
UTSW |
14 |
57,156,806 (GRCm39) |
splice site |
probably benign |
|
|
R3847:Zmym2
|
UTSW |
14 |
57,158,956 (GRCm39) |
splice site |
probably benign |
|
|
R4043:Zmym2
|
UTSW |
14 |
57,195,765 (GRCm39) |
splice site |
probably benign |
|
|
R4074:Zmym2
|
UTSW |
14 |
57,140,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4343:Zmym2
|
UTSW |
14 |
57,159,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4420:Zmym2
|
UTSW |
14 |
57,194,335 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4645:Zmym2
|
UTSW |
14 |
57,165,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Zmym2
|
UTSW |
14 |
57,159,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Zmym2
|
UTSW |
14 |
57,193,637 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5223:Zmym2
|
UTSW |
14 |
57,183,971 (GRCm39) |
missense |
probably benign |
|
|
R5364:Zmym2
|
UTSW |
14 |
57,158,102 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5488:Zmym2
|
UTSW |
14 |
57,193,712 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5489:Zmym2
|
UTSW |
14 |
57,193,712 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5818:Zmym2
|
UTSW |
14 |
57,183,986 (GRCm39) |
missense |
probably benign |
|
|
R6160:Zmym2
|
UTSW |
14 |
57,187,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6437:Zmym2
|
UTSW |
14 |
57,140,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7107:Zmym2
|
UTSW |
14 |
57,140,169 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7153:Zmym2
|
UTSW |
14 |
57,187,659 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7337:Zmym2
|
UTSW |
14 |
57,181,557 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7535:Zmym2
|
UTSW |
14 |
57,194,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7779:Zmym2
|
UTSW |
14 |
57,165,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7849:Zmym2
|
UTSW |
14 |
57,184,020 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8219:Zmym2
|
UTSW |
14 |
57,163,316 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8493:Zmym2
|
UTSW |
14 |
57,151,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8885:Zmym2
|
UTSW |
14 |
57,185,329 (GRCm39) |
intron |
probably benign |
|
|
R9162:Zmym2
|
UTSW |
14 |
57,163,361 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9165:Zmym2
|
UTSW |
14 |
57,185,464 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9250:Zmym2
|
UTSW |
14 |
57,148,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9453:Zmym2
|
UTSW |
14 |
57,180,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9677:Zmym2
|
UTSW |
14 |
57,187,115 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Zmym2
|
UTSW |
14 |
57,150,456 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Zmym2
|
UTSW |
14 |
57,151,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGTTCCAAACTGATGTTTC -3'
(R):5'- GAGCTCACGTTCACAAGCTC -3'
Sequencing Primer
(F):5'- CCAAACTGATGTTTCTTACCCAG -3'
(R):5'- GTTCACAAGCTCTTCCATCGTAAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation