Incidental Mutation 'R9453:Zmym2'
| ID |
714416 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.569)
|
| Stock # |
R9453 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
57123986-57199815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57180770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 894
(V894E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022511]
|
| AlphaFold |
Q9CU65 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022511
AA Change: V894E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022511
Gene: ENSMUSG00000021945
AA Change: V894E
| 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: 99.6%
- 20x: 98.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
A |
11: 58,771,054 (GRCm39) |
A179T |
probably benign |
Het |
| Abca6 |
A |
G |
11: 110,138,090 (GRCm39) |
|
probably null |
Het |
| Agps |
A |
C |
2: 75,662,585 (GRCm39) |
D10A |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,081,578 (GRCm39) |
D1162E |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,239,659 (GRCm39) |
K851R |
unknown |
Het |
| Cdh15 |
A |
G |
8: 123,586,029 (GRCm39) |
D136G |
probably damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,190,585 (GRCm39) |
Y459N |
probably damaging |
Het |
| Cep192 |
A |
T |
18: 67,989,354 (GRCm39) |
K1834* |
probably null |
Het |
| Cfap221 |
C |
T |
1: 119,853,361 (GRCm39) |
V778I |
probably benign |
Het |
| Chpf |
G |
A |
1: 75,452,854 (GRCm39) |
T362I |
probably benign |
Het |
| Cyp4x1 |
T |
C |
4: 114,991,069 (GRCm39) |
R36G |
probably damaging |
Het |
| D16Ertd472e |
T |
A |
16: 78,342,052 (GRCm39) |
Q276L |
probably damaging |
Het |
| Dapk3 |
T |
C |
10: 81,025,825 (GRCm39) |
Y39H |
probably damaging |
Het |
| Eefsec |
T |
C |
6: 88,353,337 (GRCm39) |
T111A |
probably damaging |
Het |
| Ehbp1l1 |
G |
A |
19: 5,758,371 (GRCm39) |
R1714C |
unknown |
Het |
| Flcn |
A |
G |
11: 59,694,609 (GRCm39) |
V121A |
probably damaging |
Het |
| Gaa |
G |
T |
11: 119,165,958 (GRCm39) |
D423Y |
probably damaging |
Het |
| Gaa |
A |
C |
11: 119,165,959 (GRCm39) |
D423A |
probably benign |
Het |
| Garnl3 |
A |
G |
2: 32,893,881 (GRCm39) |
I694T |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,058,242 (GRCm39) |
Q459L |
probably damaging |
Het |
| H1f0 |
C |
T |
15: 78,912,947 (GRCm39) |
P9L |
probably damaging |
Het |
| Hmmr |
A |
G |
11: 40,612,655 (GRCm39) |
|
probably null |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lmnb1 |
G |
A |
18: 56,873,114 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,288,832 (GRCm39) |
Y3678C |
probably damaging |
Het |
| Map7 |
T |
C |
10: 20,153,981 (GRCm39) |
V699A |
unknown |
Het |
| Mme |
G |
T |
3: 63,272,306 (GRCm39) |
G635V |
possibly damaging |
Het |
| Mroh8 |
A |
T |
2: 157,071,948 (GRCm39) |
I519N |
possibly damaging |
Het |
| Mrps11 |
T |
C |
7: 78,442,390 (GRCm39) |
S157P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,572,061 (GRCm39) |
T153A |
unknown |
Het |
| Nlrp1b |
A |
G |
11: 71,072,913 (GRCm39) |
V310A |
probably damaging |
Het |
| Oas1f |
T |
C |
5: 120,993,592 (GRCm39) |
V268A |
probably damaging |
Het |
| Or56a3b |
T |
A |
7: 104,770,817 (GRCm39) |
I51N |
|
Het |
| Or6y1 |
A |
T |
1: 174,276,233 (GRCm39) |
T15S |
probably benign |
Het |
| Padi4 |
A |
G |
4: 140,479,950 (GRCm39) |
L401P |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,016,056 (GRCm39) |
*1022Q |
probably null |
Het |
| Plcl2 |
C |
A |
17: 50,915,391 (GRCm39) |
T800K |
probably damaging |
Het |
| Polr1has |
TCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCAC |
17: 37,275,939 (GRCm39) |
|
probably benign |
Het |
| Ppp1r37 |
A |
T |
7: 19,295,796 (GRCm39) |
F54I |
probably damaging |
Het |
| Prl7c1 |
T |
A |
13: 27,957,870 (GRCm39) |
Y190F |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,397,212 (GRCm39) |
E2015G |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,579,641 (GRCm39) |
V457A |
|
Het |
| Samd13 |
A |
T |
3: 146,368,510 (GRCm39) |
D27E |
|
Het |
| Sephs1 |
A |
T |
2: 4,889,174 (GRCm39) |
|
probably benign |
Het |
| Slc22a20 |
T |
G |
19: 6,023,024 (GRCm39) |
Q373P |
probably damaging |
Het |
| Sp100 |
A |
G |
1: 85,629,179 (GRCm39) |
*483W |
probably null |
Het |
| Src |
A |
T |
2: 157,307,852 (GRCm39) |
T254S |
probably damaging |
Het |
| St6galnac2 |
A |
T |
11: 116,569,344 (GRCm39) |
M301K |
possibly damaging |
Het |
| Tnfsf13 |
A |
T |
11: 69,576,010 (GRCm39) |
W26R |
probably damaging |
Het |
| Trbv28 |
T |
A |
6: 41,248,687 (GRCm39) |
D72E |
probably benign |
Het |
| Trim75 |
T |
A |
8: 65,436,561 (GRCm39) |
|
probably benign |
Het |
| Ttc39d |
T |
C |
17: 80,524,754 (GRCm39) |
F471S |
probably damaging |
Het |
| Vav1 |
C |
T |
17: 57,613,191 (GRCm39) |
P621L |
probably benign |
Het |
| Vezt |
A |
T |
10: 93,832,856 (GRCm39) |
L185* |
probably null |
Het |
| Vmn2r42 |
T |
C |
7: 8,187,295 (GRCm39) |
I826V |
probably benign |
Het |
| Vmn2r67 |
G |
A |
7: 84,800,697 (GRCm39) |
T413M |
probably benign |
Het |
| Vnn1 |
G |
A |
10: 23,776,723 (GRCm39) |
C358Y |
probably damaging |
Het |
| Wdr83os |
G |
C |
8: 85,808,638 (GRCm39) |
W106C |
probably damaging |
Het |
| Wdr95 |
T |
C |
5: 149,475,917 (GRCm39) |
S72P |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,508,251 (GRCm39) |
T698S |
probably damaging |
Het |
| Zfp521 |
G |
A |
18: 13,977,293 (GRCm39) |
T1040I |
probably damaging |
Het |
| Zfp563 |
T |
A |
17: 33,308,565 (GRCm39) |
V9E |
|
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 |
|
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 |
|
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'- GTTGAAATCAGTTAACCAAAGACAC -3'
(R):5'- TGCATTAAATCCACTTTGTCACAG -3'
Sequencing Primer
(F):5'- GGCTCATACCTGTAAGCTCATGATG -3'
(R):5'- GCAACTATAATTAGTACAGCTTTGCC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation