Incidental Mutation 'R6437:Zmym2'
| ID |
518832 |
| 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 |
044575-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.569)
|
| Stock # |
R6437 (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 57140461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 100
(L100H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152925
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022511]
[ENSMUST00000223669]
|
| AlphaFold |
Q9CU65 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022511
AA Change: L100H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022511
Gene: ENSMUSG00000021945
AA Change: L100H
| 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 |
probably damaging
Transcript: ENSMUST00000223669
AA Change: L100H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (52/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg2a |
T |
A |
3: 37,582,347 (GRCm39) |
V794E |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,261,235 (GRCm39) |
V514I |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,718,370 (GRCm39) |
L545P |
probably damaging |
Het |
| Ces3b |
T |
A |
8: 105,819,238 (GRCm39) |
D431E |
probably damaging |
Het |
| Cracr2a |
A |
G |
6: 127,608,794 (GRCm39) |
D291G |
probably damaging |
Het |
| Csmd2 |
T |
G |
4: 127,881,893 (GRCm39) |
C11G |
probably benign |
Het |
| Cstdc3 |
A |
G |
16: 36,132,999 (GRCm39) |
E92G |
probably damaging |
Het |
| Dido1 |
A |
G |
2: 180,316,806 (GRCm39) |
I127T |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,981,860 (GRCm39) |
Y714F |
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,028,728 (GRCm39) |
A201V |
probably benign |
Het |
| Eif3h |
C |
T |
15: 51,662,660 (GRCm39) |
V129I |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fars2 |
G |
A |
13: 36,388,846 (GRCm39) |
V112I |
probably benign |
Het |
| Fbn2 |
T |
G |
18: 58,246,435 (GRCm39) |
D489A |
probably damaging |
Het |
| Frmd4b |
G |
T |
6: 97,273,228 (GRCm39) |
S675R |
probably damaging |
Het |
| Fsip2 |
C |
T |
2: 82,813,836 (GRCm39) |
S3385F |
possibly damaging |
Het |
| Gtpbp10 |
A |
G |
5: 5,607,406 (GRCm39) |
Y12H |
probably damaging |
Het |
| Kcng3 |
A |
G |
17: 83,938,558 (GRCm39) |
S164P |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,685,095 (GRCm39) |
L483Q |
probably damaging |
Het |
| Klk10 |
A |
G |
7: 43,432,241 (GRCm39) |
H58R |
probably benign |
Het |
| Kntc1 |
T |
G |
5: 123,907,754 (GRCm39) |
W452G |
probably damaging |
Het |
| Krt87 |
C |
T |
15: 101,336,273 (GRCm39) |
D127N |
possibly damaging |
Het |
| Ldaf1 |
A |
T |
7: 119,715,584 (GRCm39) |
|
probably null |
Het |
| Lipm |
A |
G |
19: 34,098,657 (GRCm39) |
Y377C |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,240,669 (GRCm39) |
R1453H |
probably damaging |
Het |
| Nat1 |
T |
C |
8: 67,944,388 (GRCm39) |
F255L |
possibly damaging |
Het |
| Neb |
C |
T |
2: 52,147,569 (GRCm39) |
|
probably null |
Het |
| Nek5 |
T |
A |
8: 22,575,476 (GRCm39) |
D491V |
possibly damaging |
Het |
| Nynrin |
T |
C |
14: 56,109,227 (GRCm39) |
S1445P |
probably benign |
Het |
| Oog2 |
T |
A |
4: 143,921,678 (GRCm39) |
|
probably null |
Het |
| Or2j6 |
C |
T |
7: 139,980,434 (GRCm39) |
C175Y |
probably damaging |
Het |
| Pafah1b1 |
T |
C |
11: 74,568,557 (GRCm39) |
T391A |
probably benign |
Het |
| Pcdhb7 |
T |
C |
18: 37,475,743 (GRCm39) |
L293P |
probably damaging |
Het |
| Plce1 |
A |
T |
19: 38,513,576 (GRCm39) |
T292S |
probably benign |
Het |
| Pold1 |
G |
A |
7: 44,188,202 (GRCm39) |
R559C |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,525,768 (GRCm39) |
Q986R |
possibly damaging |
Het |
| Rrp9 |
G |
T |
9: 106,360,150 (GRCm39) |
R186L |
probably benign |
Het |
| Samm50 |
T |
A |
15: 84,088,298 (GRCm39) |
|
probably null |
Het |
| Scoc |
T |
C |
8: 84,164,616 (GRCm39) |
D7G |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,693,505 (GRCm39) |
P145S |
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Snrk |
A |
G |
9: 121,995,879 (GRCm39) |
R553G |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,127,722 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
A |
12: 76,037,188 (GRCm39) |
V3789E |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,744,419 (GRCm39) |
I769T |
probably damaging |
Het |
| Ttc7 |
A |
G |
17: 87,637,534 (GRCm39) |
K430E |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,124,525 (GRCm39) |
|
probably null |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r37 |
G |
T |
7: 9,220,850 (GRCm39) |
Q338K |
probably damaging |
Het |
| Yod1 |
T |
C |
1: 130,646,885 (GRCm39) |
V254A |
probably damaging |
Het |
| Zfpm2 |
T |
C |
15: 40,962,793 (GRCm39) |
S152P |
probably benign |
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 |
|
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'- TGGCAACTAGTCTCACGAACG -3'
(R):5'- GTGGAACTGGAGAAATCCACATC -3'
Sequencing Primer
(F):5'- GGAAATTCATTTAGTGGCCCACC -3'
(R):5'- GAACTGGAGAAATCCACATCATTAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation