Incidental Mutation 'R3847:Zmym2'
| ID |
277448 |
| 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 |
040895-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.549)
|
| Stock # |
R3847 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
57123986-57199815 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 57158956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022511]
|
| AlphaFold |
Q9CU65 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022511
|
| SMART Domains |
Protein: ENSMUSP00000022511
Gene: ENSMUSG00000021945
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224922
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
100% (66/66) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
T |
C |
5: 109,884,190 (GRCm39) |
|
probably null |
Het |
| Abcc12 |
C |
T |
8: 87,280,020 (GRCm39) |
E338K |
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,190,906 (GRCm39) |
S815T |
probably benign |
Het |
| Ankrd16 |
G |
A |
2: 11,794,619 (GRCm39) |
E335K |
probably benign |
Het |
| Atm |
A |
G |
9: 53,414,375 (GRCm39) |
F905S |
possibly damaging |
Het |
| Bckdha |
C |
T |
7: 25,331,077 (GRCm39) |
R281H |
probably damaging |
Het |
| Blvra |
C |
T |
2: 126,937,111 (GRCm39) |
T188I |
probably damaging |
Het |
| Bmp8b |
C |
A |
4: 123,009,961 (GRCm39) |
|
probably benign |
Het |
| Cacna2d3 |
A |
G |
14: 29,069,077 (GRCm39) |
|
probably null |
Het |
| Cacng8 |
T |
C |
7: 3,442,990 (GRCm39) |
S84P |
probably damaging |
Het |
| Cad |
T |
A |
5: 31,218,994 (GRCm39) |
V605E |
probably damaging |
Het |
| Ccny |
A |
G |
18: 9,449,641 (GRCm39) |
S11P |
probably benign |
Het |
| Col3a1 |
C |
A |
1: 45,361,150 (GRCm39) |
P112T |
unknown |
Het |
| Corin |
T |
C |
5: 72,579,508 (GRCm39) |
E155G |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,836,061 (GRCm39) |
Y1195C |
probably damaging |
Het |
| Cyp27a1 |
A |
G |
1: 74,776,718 (GRCm39) |
E501G |
probably damaging |
Het |
| Dennd3 |
T |
A |
15: 73,414,581 (GRCm39) |
N457K |
possibly damaging |
Het |
| Dnah7a |
T |
G |
1: 53,540,815 (GRCm39) |
I2520L |
probably benign |
Het |
| Dst |
C |
T |
1: 34,251,400 (GRCm39) |
S4165F |
probably damaging |
Het |
| Fgf14 |
A |
C |
14: 124,217,801 (GRCm39) |
I234R |
probably benign |
Het |
| Foxp4 |
A |
G |
17: 48,186,453 (GRCm39) |
I442T |
unknown |
Het |
| Gad2 |
T |
G |
2: 22,575,000 (GRCm39) |
D472E |
probably benign |
Het |
| Garnl3 |
G |
T |
2: 32,882,240 (GRCm39) |
H832N |
probably benign |
Het |
| Gm13941 |
T |
C |
2: 110,935,198 (GRCm39) |
M11V |
unknown |
Het |
| Gnptab |
T |
A |
10: 88,269,439 (GRCm39) |
L714* |
probably null |
Het |
| Golgb1 |
C |
A |
16: 36,719,095 (GRCm39) |
Q334K |
probably benign |
Het |
| Gp9 |
A |
G |
6: 87,756,133 (GRCm39) |
I49M |
probably benign |
Het |
| Guf1 |
A |
G |
5: 69,718,500 (GRCm39) |
N213S |
probably damaging |
Het |
| H2-K2 |
T |
G |
17: 34,216,303 (GRCm39) |
H281P |
probably damaging |
Het |
| Hhip |
T |
A |
8: 80,724,124 (GRCm39) |
M373L |
probably benign |
Het |
| Ifi203 |
C |
T |
1: 173,761,362 (GRCm39) |
C229Y |
possibly damaging |
Het |
| Ighv13-2 |
A |
G |
12: 114,321,418 (GRCm39) |
L88S |
probably damaging |
Het |
| Kcna3 |
T |
C |
3: 106,944,012 (GRCm39) |
Y92H |
possibly damaging |
Het |
| Lmo7 |
A |
G |
14: 102,159,531 (GRCm39) |
|
probably null |
Het |
| Lrguk |
A |
G |
6: 34,050,703 (GRCm39) |
D387G |
probably damaging |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Mknk2 |
C |
T |
10: 80,503,809 (GRCm39) |
W367* |
probably null |
Het |
| Mocos |
A |
G |
18: 24,809,719 (GRCm39) |
K441E |
probably damaging |
Het |
| Mpnd |
T |
C |
17: 56,318,692 (GRCm39) |
S150P |
probably damaging |
Het |
| Naip2 |
G |
C |
13: 100,315,941 (GRCm39) |
L280V |
probably damaging |
Het |
| Naip2 |
A |
T |
13: 100,315,940 (GRCm39) |
L280Q |
probably damaging |
Het |
| Neurod4 |
C |
T |
10: 130,106,351 (GRCm39) |
V308I |
probably benign |
Het |
| Nxf3 |
C |
T |
X: 134,974,732 (GRCm39) |
V474I |
probably benign |
Het |
| Or10d5j |
A |
T |
9: 39,867,877 (GRCm39) |
M118K |
probably damaging |
Het |
| Or8u10 |
A |
T |
2: 85,915,751 (GRCm39) |
Y123* |
probably null |
Het |
| Pam |
T |
A |
1: 97,782,481 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,596,809 (GRCm39) |
Y467H |
probably damaging |
Het |
| Pibf1 |
T |
A |
14: 99,374,557 (GRCm39) |
V332E |
possibly damaging |
Het |
| Plxna1 |
C |
A |
6: 89,333,501 (GRCm39) |
R376L |
probably damaging |
Het |
| Proz |
A |
G |
8: 13,123,533 (GRCm39) |
E268G |
probably benign |
Het |
| Rimbp3 |
A |
T |
16: 17,028,163 (GRCm39) |
H529L |
probably benign |
Het |
| Rnf103 |
C |
G |
6: 71,485,859 (GRCm39) |
C163W |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,749,753 (GRCm39) |
V1433A |
probably damaging |
Het |
| Septin11 |
G |
T |
5: 93,310,026 (GRCm39) |
M276I |
probably damaging |
Het |
| Slc30a4 |
A |
G |
2: 122,544,192 (GRCm39) |
V50A |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,302,887 (GRCm39) |
V570A |
probably damaging |
Het |
| Spout1 |
T |
C |
2: 30,067,419 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
C |
12: 76,095,396 (GRCm39) |
L5241P |
probably damaging |
Het |
| Tas2r110 |
T |
A |
6: 132,845,638 (GRCm39) |
I223N |
probably damaging |
Het |
| Tead2 |
T |
A |
7: 44,881,752 (GRCm39) |
|
probably null |
Het |
| Thsd1 |
A |
G |
8: 22,749,427 (GRCm39) |
H713R |
probably damaging |
Het |
| Ttc21b |
A |
G |
2: 66,073,023 (GRCm39) |
L221S |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r105 |
A |
G |
17: 20,428,952 (GRCm39) |
I708T |
possibly damaging |
Het |
| Vmn2r117 |
G |
T |
17: 23,679,389 (GRCm39) |
H612N |
probably damaging |
Het |
| Wnk1 |
C |
T |
6: 119,946,315 (GRCm39) |
G613S |
possibly damaging |
Het |
| Zbtb41 |
T |
A |
1: 139,351,734 (GRCm39) |
H282Q |
probably benign |
Het |
| Zfp335 |
C |
A |
2: 164,742,026 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
R7730:Zmym2
|
UTSW |
14 |
57,193,638 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- ATGTTTGTTTTAGGTAATTTGACAGC -3'
(R):5'- TCTCATCAGGCACTCAACAAATTAA -3'
Sequencing Primer
(F):5'- TGGAACTCACTTTGTAGACCACG -3'
(R):5'- GGCACTCAACAAATTAAAAGTAACAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation