Incidental Mutation 'IGL00587:Zmym2'
ID 4182
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zmym2
Ensembl Gene ENSMUSG00000021945
Gene Name zinc finger, MYM-type 2
Synonyms SCLL, RAMP, Zfp198, FIM, MYM
Accession Numbers
Essential gene? Possibly essential (E-score: 0.569) question?
Stock # IGL00587
Quality Score
Status
Chromosome 14
Chromosomal Location 57123986-57199815 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 57140817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 219 (S219A)
Ref Sequence ENSEMBL: ENSMUSP00000022511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022511] [ENSMUST00000223669]
AlphaFold Q9CU65
Predicted Effect possibly damaging
Transcript: ENSMUST00000022511
AA Change: S219A

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022511
Gene: ENSMUSG00000021945
AA Change: S219A

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000223669
AA Change: S219A

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo2 A C 15: 97,143,327 (GRCm39) M365R possibly damaging Het
Atat1 T C 17: 36,208,775 (GRCm39) D352G probably benign Het
Bbs12 A G 3: 37,374,346 (GRCm39) T265A probably damaging Het
Cd300c A T 11: 114,850,616 (GRCm39) N62K probably benign Het
Cdk5rap3 A G 11: 96,804,225 (GRCm39) S43P probably damaging Het
Chchd6 A T 6: 89,546,399 (GRCm39) probably null Het
Cr2 C T 1: 194,836,559 (GRCm39) R868Q possibly damaging Het
Cyp2d9 T C 15: 82,339,344 (GRCm39) S126P possibly damaging Het
Dsg3 T A 18: 20,672,711 (GRCm39) I794N probably damaging Het
Fga A T 3: 82,937,596 (GRCm39) S158C possibly damaging Het
Gm14240 T C 2: 155,894,870 (GRCm39) probably null Het
Itga1 C A 13: 115,148,785 (GRCm39) V279L probably damaging Het
Kdm1b T C 13: 47,222,016 (GRCm39) V485A probably benign Het
Mfap3l T C 8: 61,124,943 (GRCm39) V395A probably benign Het
Nlrp14 T A 7: 106,780,974 (GRCm39) V57E probably benign Het
P2ry12 A T 3: 59,125,303 (GRCm39) I124K probably damaging Het
Paxip1 A G 5: 27,977,550 (GRCm39) probably benign Het
Prkdc T C 16: 15,470,222 (GRCm39) probably benign Het
Rab28 T C 5: 41,860,799 (GRCm39) R52G probably benign Het
Rrp15 T C 1: 186,453,745 (GRCm39) probably null Het
Sel1l2 G A 2: 140,085,864 (GRCm39) L539F possibly damaging Het
Ticam2 T C 18: 46,693,880 (GRCm39) E69G probably benign Het
Zcchc2 T A 1: 105,957,993 (GRCm39) S821R probably benign Het
Zcchc4 T A 5: 52,973,511 (GRCm39) S379T probably benign Het
Zfp53 T C 17: 21,728,600 (GRCm39) V211A probably benign Het
Other mutations in Zmym2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Zmym2 APN 14 57,185,394 (GRCm39) splice site probably benign
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
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
Posted On 2012-04-20