Incidental Mutation 'R2261:Zmym2'
ID |
243820 |
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 |
040261-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.549)
|
Stock # |
R2261 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
57123986-57199815 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 57165719 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 681
(E681K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022511
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022511]
|
AlphaFold |
Q9CU65 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022511
AA Change: E681K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000022511 Gene: ENSMUSG00000021945 AA Change: E681K
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 |
0.2397 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
98% (60/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,242,288 (GRCm39) |
M1384L |
probably benign |
Het |
Ahdc1 |
A |
G |
4: 132,790,474 (GRCm39) |
T572A |
unknown |
Het |
Arhgap31 |
T |
A |
16: 38,429,639 (GRCm39) |
Q412L |
probably damaging |
Het |
Arsi |
T |
C |
18: 61,049,737 (GRCm39) |
Y207H |
probably damaging |
Het |
Bco1 |
T |
C |
8: 117,859,764 (GRCm39) |
L489S |
probably damaging |
Het |
Cacna1g |
T |
A |
11: 94,347,961 (GRCm39) |
H709L |
probably benign |
Het |
Cacna1h |
T |
C |
17: 25,652,139 (GRCm39) |
T2A |
possibly damaging |
Het |
Casz1 |
G |
T |
4: 149,013,556 (GRCm39) |
R40L |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,152,907 (GRCm39) |
V2372A |
probably damaging |
Het |
Cdk17 |
T |
A |
10: 93,047,820 (GRCm39) |
S56T |
possibly damaging |
Het |
Ces2h |
T |
A |
8: 105,743,191 (GRCm39) |
M142K |
probably damaging |
Het |
Cfap69 |
C |
A |
5: 5,646,018 (GRCm39) |
V561F |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
T |
A |
12: 117,843,760 (GRCm39) |
M4362L |
probably benign |
Het |
Dnah11 |
T |
C |
12: 117,930,374 (GRCm39) |
T3324A |
probably damaging |
Het |
Dnajc3 |
A |
G |
14: 119,198,232 (GRCm39) |
Q118R |
probably damaging |
Het |
Dok4 |
A |
T |
8: 95,593,140 (GRCm39) |
C182S |
probably damaging |
Het |
Fam184a |
A |
G |
10: 53,523,666 (GRCm39) |
|
probably null |
Het |
Fanca |
A |
G |
8: 124,016,098 (GRCm39) |
|
probably null |
Het |
Flt3 |
G |
A |
5: 147,284,873 (GRCm39) |
P748L |
probably benign |
Het |
Gbp2b |
G |
A |
3: 142,312,496 (GRCm39) |
S293N |
probably benign |
Het |
Gbp8 |
T |
C |
5: 105,163,999 (GRCm39) |
Q433R |
possibly damaging |
Het |
Gm12874 |
G |
A |
4: 122,487,533 (GRCm39) |
|
noncoding transcript |
Het |
Golgb1 |
T |
A |
16: 36,713,722 (GRCm39) |
F234L |
probably damaging |
Het |
Gpr65 |
A |
T |
12: 98,241,494 (GRCm39) |
N49I |
probably damaging |
Het |
Grip1 |
G |
A |
10: 119,821,489 (GRCm39) |
V385M |
probably benign |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Mast4 |
A |
G |
13: 102,934,715 (GRCm39) |
|
probably benign |
Het |
Mia3 |
A |
G |
1: 183,115,647 (GRCm39) |
Y295H |
probably benign |
Het |
Morc3 |
T |
A |
16: 93,650,109 (GRCm39) |
|
probably benign |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Nell1 |
C |
T |
7: 50,210,569 (GRCm39) |
T494I |
possibly damaging |
Het |
Npy2r |
A |
G |
3: 82,448,346 (GRCm39) |
V30A |
possibly damaging |
Het |
Nsd2 |
A |
T |
5: 34,042,871 (GRCm39) |
Q1045L |
probably damaging |
Het |
Or51t4 |
T |
C |
7: 102,598,464 (GRCm39) |
F254S |
probably damaging |
Het |
Or5d40 |
T |
A |
2: 88,015,965 (GRCm39) |
I248N |
probably damaging |
Het |
Otub1 |
T |
A |
19: 7,176,861 (GRCm39) |
|
probably null |
Het |
Pcdh1 |
A |
T |
18: 38,331,710 (GRCm39) |
L431H |
probably benign |
Het |
Pdgfra |
T |
C |
5: 75,346,184 (GRCm39) |
V778A |
probably benign |
Het |
Plekhm2 |
C |
T |
4: 141,370,043 (GRCm39) |
E29K |
probably damaging |
Het |
Ralgapa2 |
T |
C |
2: 146,184,603 (GRCm39) |
N1468S |
probably damaging |
Het |
Rnf111 |
T |
C |
9: 70,383,673 (GRCm39) |
S87G |
probably benign |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Saxo1 |
C |
T |
4: 86,397,212 (GRCm39) |
D109N |
probably damaging |
Het |
Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
Slc20a1 |
A |
G |
2: 129,048,394 (GRCm39) |
R260G |
possibly damaging |
Het |
Slk |
T |
C |
19: 47,625,791 (GRCm39) |
I1090T |
probably damaging |
Het |
Spr-ps1 |
G |
T |
6: 85,132,945 (GRCm39) |
|
noncoding transcript |
Het |
Ssh1 |
T |
C |
5: 114,080,764 (GRCm39) |
S867G |
possibly damaging |
Het |
St18 |
T |
A |
1: 6,915,796 (GRCm39) |
C814S |
probably damaging |
Het |
Stmn2 |
T |
C |
3: 8,606,955 (GRCm39) |
F25S |
probably damaging |
Het |
Taar3 |
A |
G |
10: 23,826,053 (GRCm39) |
I200V |
probably benign |
Het |
Tmem184c |
A |
G |
8: 78,323,672 (GRCm39) |
Y397H |
probably damaging |
Het |
Tmem184c |
T |
C |
8: 78,323,804 (GRCm39) |
T353A |
probably damaging |
Het |
Tuba1c |
A |
G |
15: 98,935,757 (GRCm39) |
H406R |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,140,773 (GRCm39) |
S1231P |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 37,988,528 (GRCm39) |
D2143E |
probably damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,464,090 (GRCm39) |
N248S |
probably benign |
Het |
Vmn2r63 |
G |
T |
7: 42,578,031 (GRCm39) |
T169N |
probably benign |
Het |
Zfp37 |
A |
T |
4: 62,109,873 (GRCm39) |
L397Q |
probably 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 |
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 |
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'- TCTGTGGCCGTTAGCAAATGTATC -3'
(R):5'- GTGTACCTATTCTGGACGTCTG -3'
Sequencing Primer
(F):5'- GGCCGTTAGCAAATGTATCTCCAAG -3'
(R):5'- CCTTCACTACAGAAAGGTC -3'
|
Posted On |
2014-10-16 |