Incidental Mutation 'R1595:Zmym2'
| ID |
175754 |
| 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 |
039632-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.549)
|
| Stock # |
R1595 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
57123986-57199815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57158187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 575
(K575N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022511]
|
| AlphaFold |
Q9CU65 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022511
AA Change: K575N
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022511
Gene: ENSMUSG00000021945
AA Change: K575N
| 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 |
0.0820 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.1%
|
| Validation Efficiency |
97% (77/79) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
C |
T |
1: 75,153,944 (GRCm39) |
|
probably null |
Het |
| Abcc10 |
G |
T |
17: 46,633,164 (GRCm39) |
P556H |
probably damaging |
Het |
| Abcc9 |
A |
T |
6: 142,578,821 (GRCm39) |
D914E |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,978,764 (GRCm39) |
V193A |
probably benign |
Het |
| Adm |
A |
T |
7: 110,228,298 (GRCm39) |
T160S |
probably damaging |
Het |
| Ammecr1l |
T |
C |
18: 31,905,173 (GRCm39) |
|
probably null |
Het |
| Angpt2 |
T |
C |
8: 18,748,129 (GRCm39) |
D377G |
probably damaging |
Het |
| Ankfn1 |
A |
G |
11: 89,313,593 (GRCm39) |
|
probably null |
Het |
| Arhgap30 |
T |
G |
1: 171,235,909 (GRCm39) |
M761R |
probably benign |
Het |
| Asb4 |
T |
G |
6: 5,390,692 (GRCm39) |
N28K |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,444,389 (GRCm39) |
D696E |
probably benign |
Het |
| Cd200 |
G |
A |
16: 45,215,214 (GRCm39) |
T123I |
probably benign |
Het |
| Cfap70 |
A |
G |
14: 20,497,604 (GRCm39) |
V50A |
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,701,987 (GRCm39) |
|
probably null |
Het |
| Chgb |
A |
C |
2: 132,635,657 (GRCm39) |
D533A |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,509,536 (GRCm39) |
Y3041H |
probably damaging |
Het |
| Crot |
T |
C |
5: 9,024,186 (GRCm39) |
N337D |
probably benign |
Het |
| Csad |
G |
A |
15: 102,086,217 (GRCm39) |
A51V |
probably damaging |
Het |
| Cstdc7 |
T |
C |
18: 42,306,454 (GRCm39) |
M7T |
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,900,332 (GRCm39) |
Y380C |
possibly damaging |
Het |
| Dpysl2 |
G |
T |
14: 67,052,952 (GRCm39) |
A299E |
probably damaging |
Het |
| Efcc1 |
A |
G |
6: 87,708,440 (GRCm39) |
E189G |
probably damaging |
Het |
| Egfr |
T |
C |
11: 16,856,847 (GRCm39) |
I940T |
probably damaging |
Het |
| Etnk2 |
T |
G |
1: 133,300,917 (GRCm39) |
L228R |
possibly damaging |
Het |
| Fitm2 |
A |
G |
2: 163,311,610 (GRCm39) |
I201T |
probably benign |
Het |
| Foxo1 |
A |
T |
3: 52,253,375 (GRCm39) |
M513L |
probably benign |
Het |
| Galnt16 |
A |
T |
12: 80,637,410 (GRCm39) |
K379I |
probably damaging |
Het |
| Gm57858 |
C |
T |
3: 36,073,146 (GRCm39) |
A379T |
probably damaging |
Het |
| Gtf2a1 |
T |
A |
12: 91,556,323 (GRCm39) |
N6Y |
probably damaging |
Het |
| Kcnc1 |
G |
A |
7: 46,077,010 (GRCm39) |
V271M |
probably benign |
Het |
| Klhdc8b |
T |
A |
9: 108,328,362 (GRCm39) |
D30V |
probably damaging |
Het |
| Lrrc7 |
G |
A |
3: 157,882,914 (GRCm39) |
Q448* |
probably null |
Het |
| Med29 |
T |
C |
7: 28,091,928 (GRCm39) |
D54G |
probably damaging |
Het |
| Mfn2 |
T |
C |
4: 147,979,153 (GRCm39) |
T60A |
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,317,730 (GRCm39) |
|
probably benign |
Het |
| Mxd1 |
A |
T |
6: 86,628,453 (GRCm39) |
V149E |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,435,602 (GRCm39) |
Y974N |
probably damaging |
Het |
| Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
| Nhsl1 |
G |
T |
10: 18,402,096 (GRCm39) |
K1107N |
probably damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,783,166 (GRCm39) |
E81G |
probably benign |
Het |
| Or10al3 |
G |
T |
17: 38,012,004 (GRCm39) |
A148S |
probably benign |
Het |
| Or9e1 |
G |
T |
11: 58,732,478 (GRCm39) |
M179I |
probably benign |
Het |
| Osbpl5 |
C |
T |
7: 143,256,955 (GRCm39) |
V392M |
possibly damaging |
Het |
| Pcdhb22 |
T |
A |
18: 37,653,506 (GRCm39) |
V401E |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,762,672 (GRCm39) |
H1444Q |
probably damaging |
Het |
| Pdlim2 |
A |
G |
14: 70,402,193 (GRCm39) |
Y308H |
probably damaging |
Het |
| Phf14 |
T |
G |
6: 11,988,752 (GRCm39) |
L664R |
possibly damaging |
Het |
| Phkb |
T |
C |
8: 86,753,182 (GRCm39) |
|
probably benign |
Het |
| Ptchd3 |
T |
A |
11: 121,721,420 (GRCm39) |
F98I |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 161,652,469 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
A |
T |
14: 33,678,155 (GRCm39) |
H701L |
possibly damaging |
Het |
| Rgl1 |
T |
C |
1: 152,550,774 (GRCm39) |
|
probably benign |
Het |
| Satb1 |
A |
T |
17: 52,089,729 (GRCm39) |
S373T |
possibly damaging |
Het |
| Scn3a |
T |
A |
2: 65,329,323 (GRCm39) |
Y769F |
probably damaging |
Het |
| Senp7 |
A |
G |
16: 56,005,131 (GRCm39) |
I922V |
probably damaging |
Het |
| Serpina3g |
A |
G |
12: 104,205,531 (GRCm39) |
E90G |
probably benign |
Het |
| Sh3rf2 |
C |
T |
18: 42,244,353 (GRCm39) |
T273I |
probably damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,831,675 (GRCm39) |
T350A |
probably benign |
Het |
| Socs5 |
T |
C |
17: 87,441,623 (GRCm39) |
C188R |
probably damaging |
Het |
| Tacr1 |
A |
G |
6: 82,380,723 (GRCm39) |
T45A |
probably benign |
Het |
| Th |
A |
G |
7: 142,450,745 (GRCm39) |
V117A |
probably benign |
Het |
| Thpo |
C |
A |
16: 20,547,206 (GRCm39) |
D81Y |
probably damaging |
Het |
| Tmem229b-ps |
A |
G |
10: 53,351,385 (GRCm39) |
|
noncoding transcript |
Het |
| Trpc4 |
A |
G |
3: 54,223,236 (GRCm39) |
E724G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,576,977 (GRCm39) |
T24639A |
probably damaging |
Het |
| Ulk4 |
A |
G |
9: 120,873,904 (GRCm39) |
S1176P |
probably damaging |
Het |
| Urgcp |
T |
C |
11: 5,667,447 (GRCm39) |
D297G |
probably damaging |
Het |
| Vmn1r168 |
G |
A |
7: 23,240,620 (GRCm39) |
G159D |
probably damaging |
Het |
| Vmn1r67 |
A |
T |
7: 10,181,597 (GRCm39) |
N226I |
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,208,574 (GRCm39) |
E57G |
probably benign |
Het |
| Zdhhc14 |
G |
T |
17: 5,543,831 (GRCm39) |
R37L |
probably benign |
Het |
| Zfp512b |
G |
A |
2: 181,230,229 (GRCm39) |
T499I |
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 |
|
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 |
|
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'- CCATAGAGAGCTGTCCTTTGCGTT -3'
(R):5'- AAACACTGCCAggagtttgagagatg -3'
Sequencing Primer
(F):5'- CCGAACACAGTGCAGGTTTT -3'
(R):5'- aacaaaaaaacaaaaaagaaccacag -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation