Incidental Mutation 'R9162:Zmym2'
| ID |
695802 |
| 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 |
068943-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.569)
|
| Stock # |
R9162 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
57123986-57199815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57163361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 638
(C638S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022511]
|
| AlphaFold |
Q9CU65 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022511
AA Change: C638S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000022511
Gene: ENSMUSG00000021945
AA Change: C638S
| 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 |
|
| Meta Mutation Damage Score |
0.7524 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (48/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
A |
G |
5: 24,611,732 (GRCm39) |
D516G |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,058,926 (GRCm39) |
M506T |
probably benign |
Het |
| Abhd17a |
T |
C |
10: 80,422,577 (GRCm39) |
Y35C |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,311,721 (GRCm39) |
N1326S |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,414,645 (GRCm39) |
Y8H |
probably benign |
Het |
| Arsi |
T |
C |
18: 61,050,569 (GRCm39) |
V484A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,883 (GRCm39) |
D2623G |
unknown |
Het |
| Cul9 |
A |
C |
17: 46,837,529 (GRCm39) |
D1005E |
probably benign |
Het |
| Dchs1 |
A |
C |
7: 105,414,732 (GRCm39) |
V770G |
probably damaging |
Het |
| Dcst2 |
C |
A |
3: 89,274,088 (GRCm39) |
S213* |
probably null |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,089,215 (GRCm39) |
T926I |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 53,208,504 (GRCm39) |
R86* |
probably null |
Het |
| Fat1 |
T |
C |
8: 45,404,352 (GRCm39) |
F368L |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,455,860 (GRCm39) |
C2097R |
probably damaging |
Het |
| Git1 |
T |
A |
11: 77,396,331 (GRCm39) |
I565N |
probably benign |
Het |
| Gpr22 |
A |
G |
12: 31,758,724 (GRCm39) |
V466A |
probably benign |
Het |
| Hacd4 |
T |
A |
4: 88,338,017 (GRCm39) |
T194S |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,445,042 (GRCm39) |
K93R |
possibly damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,972,450 (GRCm39) |
S478G |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,759,363 (GRCm39) |
S829G |
probably benign |
Het |
| Lnp1 |
A |
T |
16: 56,737,844 (GRCm39) |
H81Q |
possibly damaging |
Het |
| Lrp1 |
C |
T |
10: 127,441,368 (GRCm39) |
A252T |
probably benign |
Het |
| Msl2 |
T |
C |
9: 100,978,928 (GRCm39) |
V434A |
probably benign |
Het |
| Myo1g |
T |
A |
11: 6,460,897 (GRCm39) |
I716F |
probably damaging |
Het |
| Or52e19 |
A |
T |
7: 102,958,927 (GRCm39) |
|
probably benign |
Het |
| Or56a42-ps1 |
A |
T |
7: 104,777,454 (GRCm39) |
Y53* |
probably null |
Het |
| Or5b12 |
A |
T |
19: 12,897,024 (GRCm39) |
Y216* |
probably null |
Het |
| Or7e175 |
A |
G |
9: 20,040,457 (GRCm39) |
I6V |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,123,040 (GRCm39) |
S792T |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,168 (GRCm39) |
S653P |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,601,362 (GRCm39) |
K574R |
probably benign |
Het |
| Scyl3 |
C |
A |
1: 163,773,891 (GRCm39) |
Q372K |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,430,577 (GRCm39) |
D269E |
probably damaging |
Het |
| Siah2 |
C |
A |
3: 58,599,104 (GRCm39) |
G45C |
unknown |
Het |
| Slc4a11 |
T |
A |
2: 130,534,214 (GRCm39) |
D28V |
possibly damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,939,453 (GRCm39) |
E200V |
probably damaging |
Het |
| Socs4 |
T |
A |
14: 47,528,301 (GRCm39) |
M412K |
probably damaging |
Het |
| Spata31e1 |
T |
G |
13: 49,939,310 (GRCm39) |
Q800P |
possibly damaging |
Het |
| Spef2 |
T |
G |
15: 9,602,017 (GRCm39) |
N1415T |
unknown |
Het |
| Stat6 |
A |
G |
10: 127,487,089 (GRCm39) |
K199E |
probably damaging |
Het |
| Syndig1l |
A |
G |
12: 84,727,291 (GRCm39) |
F91S |
probably damaging |
Het |
| Tank |
C |
A |
2: 61,480,432 (GRCm39) |
Q324K |
possibly damaging |
Het |
| Tars3 |
G |
A |
7: 65,332,518 (GRCm39) |
E540K |
probably benign |
Het |
| Tial1 |
A |
G |
7: 128,050,415 (GRCm39) |
V70A |
possibly damaging |
Het |
| Tmem87b |
C |
T |
2: 128,681,150 (GRCm39) |
T358I |
probably benign |
Het |
| Ttyh3 |
G |
A |
5: 140,621,820 (GRCm39) |
A42V |
possibly damaging |
Het |
| Xrn1 |
T |
C |
9: 95,915,660 (GRCm39) |
I1261T |
probably benign |
Het |
| Zfp229 |
T |
C |
17: 21,964,495 (GRCm39) |
S242P |
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 |
|
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 |
|
|
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'- ATTCAATCCTAAAGCTAACAGTGGG -3'
(R):5'- GCTTCCTTGAAATCTATCCTATTGG -3'
Sequencing Primer
(F):5'- ATTGAAGCTAGGACCTTGTGC -3'
(R):5'- TTTCCACAAAGTAAACATACCAAGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation