Incidental Mutation 'IGL02858:Sall3'
ID362055
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sall3
Ensembl Gene ENSMUSG00000024565
Gene Namespalt like transcription factor 3
SynonymsMsal, Spalt, Msal-1, Salt, B130022O04Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02858
Quality Score
Status
Chromosome18
Chromosomal Location80966376-80986578 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 80969513 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 1236 (A1236E)
Ref Sequence ENSEMBL: ENSMUSP00000056967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057950]
Predicted Effect probably damaging
Transcript: ENSMUST00000057950
AA Change: A1236E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056967
Gene: ENSMUSG00000024565
AA Change: A1236E

DomainStartEndE-ValueType
low complexity region 34 51 N/A INTRINSIC
low complexity region 143 161 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
low complexity region 210 231 N/A INTRINSIC
low complexity region 271 289 N/A INTRINSIC
low complexity region 323 342 N/A INTRINSIC
low complexity region 350 371 N/A INTRINSIC
ZnF_C2H2 427 449 2.57e-3 SMART
ZnF_C2H2 455 477 3.21e-4 SMART
low complexity region 555 568 N/A INTRINSIC
ZnF_C2H2 692 714 3.99e0 SMART
ZnF_C2H2 720 742 2.99e-4 SMART
ZnF_C2H2 752 774 1.6e-4 SMART
low complexity region 834 852 N/A INTRINSIC
low complexity region 901 923 N/A INTRINSIC
low complexity region 993 1007 N/A INTRINSIC
ZnF_C2H2 1061 1083 1.69e-3 SMART
ZnF_C2H2 1089 1111 5.99e-4 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice display neonatal lethality with an impaired suckling ability, truncated soft palate, small epiglottis, and abnormal cranial nerve morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,769,034 V126A probably damaging Het
Akap9 T C 5: 4,069,130 Y3546H possibly damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Arhgap45 C A 10: 80,017,934 T94N probably benign Het
Arid1b T C 17: 5,341,891 S1899P possibly damaging Het
Atad5 T A 11: 80,089,775 V2E probably damaging Het
Calr A T 8: 84,844,899 V155E probably benign Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cetn1 T C 18: 9,619,422 probably benign Het
Chl1 A T 6: 103,641,988 L6F probably damaging Het
Chrnb1 C T 11: 69,785,109 V436I possibly damaging Het
Col4a4 T C 1: 82,528,483 E292G unknown Het
Ddx56 A G 11: 6,267,667 L18P probably damaging Het
Dhx36 A C 3: 62,477,376 probably benign Het
Dnah5 A T 15: 28,453,212 R4376S possibly damaging Het
Dnah6 T A 6: 73,208,599 D113V probably benign Het
Dnah7a A G 1: 53,472,959 probably benign Het
Dock7 T A 4: 98,945,205 K1920* probably null Het
Dysf A G 6: 84,099,489 D628G probably benign Het
Exoc3l2 A G 7: 19,495,184 I176V probably benign Het
Fcrl1 A G 3: 87,384,705 Y57C probably damaging Het
Fzd4 C T 7: 89,407,954 T403M probably damaging Het
Gpr171 A T 3: 59,097,867 N162K probably benign Het
Impdh1 T A 6: 29,206,925 K132* probably null Het
Itgb2l A T 16: 96,422,650 W730R possibly damaging Het
Jmjd8 T C 17: 25,830,160 F230S probably damaging Het
Krt72 G A 15: 101,782,121 T232M probably damaging Het
Lpin3 T C 2: 160,898,620 probably benign Het
Nup214 A C 2: 32,010,372 probably benign Het
Olfr740 A T 14: 50,453,050 probably benign Het
Olfr77 A G 9: 19,920,451 M81V probably damaging Het
Olfr898 A G 9: 38,349,173 Q24R probably benign Het
Olfr943 A G 9: 39,184,526 Y113C probably damaging Het
Pdgfra T A 5: 75,194,974 S1048R probably damaging Het
Sipa1 T C 19: 5,655,708 T411A probably damaging Het
Thsd7a T G 6: 12,500,995 D471A probably benign Het
Tm2d1 T A 4: 98,374,955 E100D probably damaging Het
Tmcc1 A G 6: 116,133,888 V148A probably damaging Het
Tubgcp6 A T 15: 89,102,315 Y19* probably null Het
Ubr3 A G 2: 69,952,859 Y713C probably damaging Het
Uevld A G 7: 46,955,629 V39A probably benign Het
Vmn2r28 A T 7: 5,481,004 H732Q probably damaging Het
Zfp629 A T 7: 127,610,312 F775Y probably damaging Het
Other mutations in Sall3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Sall3 APN 18 80973232 missense probably damaging 0.98
IGL01630:Sall3 APN 18 80971269 missense probably benign 0.03
IGL01713:Sall3 APN 18 80969847 missense probably damaging 1.00
IGL01803:Sall3 APN 18 80969832 missense possibly damaging 0.65
IGL02627:Sall3 APN 18 80972361 missense possibly damaging 0.86
IGL03177:Sall3 APN 18 80972968 missense probably benign 0.00
fountain UTSW 18 80974476 missense probably damaging 0.99
IGL02984:Sall3 UTSW 18 80973450 missense probably benign 0.01
R1055:Sall3 UTSW 18 80969792 missense probably benign 0.24
R1258:Sall3 UTSW 18 80974065 missense probably damaging 1.00
R1932:Sall3 UTSW 18 80969753 missense probably benign 0.44
R1976:Sall3 UTSW 18 80971893 missense probably benign 0.42
R2124:Sall3 UTSW 18 80971797 missense probably benign 0.01
R2142:Sall3 UTSW 18 80969831 missense probably damaging 0.98
R2199:Sall3 UTSW 18 80971870 missense probably benign 0.27
R2365:Sall3 UTSW 18 80971792 missense probably benign 0.01
R3856:Sall3 UTSW 18 80972502 missense probably damaging 1.00
R4022:Sall3 UTSW 18 80969840 missense probably benign 0.05
R4050:Sall3 UTSW 18 80971482 missense probably benign 0.03
R4085:Sall3 UTSW 18 80972133 missense probably damaging 0.99
R4764:Sall3 UTSW 18 80974476 missense probably damaging 0.99
R4874:Sall3 UTSW 18 80973973 missense probably benign 0.33
R4948:Sall3 UTSW 18 80971411 missense probably benign 0.20
R5274:Sall3 UTSW 18 80969837 missense probably benign 0.15
R5602:Sall3 UTSW 18 80972812 missense probably benign
R6063:Sall3 UTSW 18 80974255 missense possibly damaging 0.52
R6256:Sall3 UTSW 18 80969861 missense possibly damaging 0.74
R6431:Sall3 UTSW 18 80973187 missense possibly damaging 0.94
R6523:Sall3 UTSW 18 80973188 missense possibly damaging 0.68
R6719:Sall3 UTSW 18 80971506 missense probably damaging 0.99
R6861:Sall3 UTSW 18 80974375 nonsense probably null
R7078:Sall3 UTSW 18 80974099 missense probably damaging 0.97
R7107:Sall3 UTSW 18 80973754 missense probably benign 0.01
R7108:Sall3 UTSW 18 80973754 missense probably benign 0.01
R7453:Sall3 UTSW 18 80972040 missense probably benign 0.07
R7491:Sall3 UTSW 18 80972705 missense probably benign 0.03
R7496:Sall3 UTSW 18 80973364 missense probably benign 0.07
R7584:Sall3 UTSW 18 80974530 missense probably benign 0.00
R7599:Sall3 UTSW 18 80972052 missense possibly damaging 0.56
R7809:Sall3 UTSW 18 80974360 missense probably benign 0.00
R8244:Sall3 UTSW 18 80973754 missense probably benign 0.01
R8245:Sall3 UTSW 18 80973754 missense probably benign 0.01
R8250:Sall3 UTSW 18 80973528 missense probably benign 0.01
R8335:Sall3 UTSW 18 80969586 missense probably benign 0.35
R8360:Sall3 UTSW 18 80974017 missense probably benign 0.31
R8410:Sall3 UTSW 18 80973754 missense probably benign 0.01
R8476:Sall3 UTSW 18 80972118 nonsense probably null
R8712:Sall3 UTSW 18 80974021 missense probably benign 0.03
R8726:Sall3 UTSW 18 80986493 missense possibly damaging 0.89
Z1176:Sall3 UTSW 18 80972760 missense probably benign 0.19
Z1177:Sall3 UTSW 18 80974276 missense probably benign 0.03
Posted On2015-12-18