Incidental Mutation 'IGL00736:Zmym2'
ID 15040
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: 0.549) question?
Stock # IGL00736
Quality Score
Status
Chromosome 14
Chromosomal Location 57123986-57199815 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57140668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 169 (V169A)
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: V169A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000022511
Gene: ENSMUSG00000021945
AA Change: V169A

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 probably benign
Transcript: ENSMUST00000223669
AA Change: V169A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A G 10: 77,158,324 (GRCm39) L41P probably damaging Het
Baz1b A G 5: 135,268,886 (GRCm39) Y1245C probably damaging Het
Dnajb7 T A 15: 81,291,774 (GRCm39) I188F probably benign Het
Dpf1 A T 7: 29,012,333 (GRCm39) K18* probably null Het
Drosha T A 15: 12,834,045 (GRCm39) Y50N unknown Het
Eif2s1 T A 12: 78,931,611 (GRCm39) probably benign Het
Gde1 T C 7: 118,297,925 (GRCm39) E97G probably damaging Het
Lrrc8c G A 5: 105,754,980 (GRCm39) V252M probably damaging Het
Megf10 G A 18: 57,425,782 (GRCm39) R1056Q probably benign Het
Myo3b A C 2: 69,935,989 (GRCm39) probably benign Het
Ralbp1 T C 17: 66,171,718 (GRCm39) Y85C probably damaging Het
Serpini2 C T 3: 75,175,116 (GRCm39) M58I possibly damaging Het
Skor1 C A 9: 63,046,820 (GRCm39) Q892H probably damaging Het
Slc22a26 T C 19: 7,767,527 (GRCm39) Q292R possibly damaging Het
Smc1b T C 15: 85,013,901 (GRCm39) E90G possibly damaging Het
Other mutations in Zmym2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2012-12-06