Incidental Mutation 'R5274:Sall3'
ID 403855
Institutional Source Beutler Lab
Gene Symbol Sall3
Ensembl Gene ENSMUSG00000024565
Gene Name spalt like transcription factor 3
Synonyms Salt, B130022O04Rik, Spalt, Msal, Msal-1
MMRRC Submission 042837-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5274 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 81010204-81030236 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81013052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1128 (N1128S)
Ref Sequence ENSEMBL: ENSMUSP00000056967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057950]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000057950
AA Change: N1128S

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000056967
Gene: ENSMUSG00000024565
AA Change: N1128S

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
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 98.0%
  • 20x: 96.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,092,856 (GRCm39) R155H probably benign Het
Ace T C 11: 105,858,863 (GRCm39) M19T probably benign Het
Agl A G 3: 116,566,135 (GRCm39) L995P probably damaging Het
AY761185 T C 8: 21,433,889 (GRCm39) N90S unknown Het
Brca2 T C 5: 150,463,154 (GRCm39) S973P probably benign Het
Cacna1e T C 1: 154,576,250 (GRCm39) T66A probably damaging Het
Cbarp T C 10: 79,967,649 (GRCm39) S531G possibly damaging Het
Cby2 A G 14: 75,820,666 (GRCm39) V362A probably benign Het
Cd96 G T 16: 45,890,066 (GRCm39) T319K possibly damaging Het
Ceacam23 T C 7: 17,649,642 (GRCm39) probably null Het
Chil5 A C 3: 105,936,169 (GRCm39) F41C probably damaging Het
Col24a1 A C 3: 145,190,433 (GRCm39) E1239D probably benign Het
Dip2b A G 15: 100,109,985 (GRCm39) E1490G possibly damaging Het
Dync1li1 T C 9: 114,544,273 (GRCm39) V315A possibly damaging Het
Dync2h1 T C 9: 7,116,540 (GRCm39) S99G probably benign Het
Dynlt5 A T 4: 102,859,768 (GRCm39) T103S possibly damaging Het
E2f8 C T 7: 48,516,925 (GRCm39) R818H probably damaging Het
Eomes T C 9: 118,309,597 (GRCm39) V250A probably damaging Het
Esyt3 T C 9: 99,200,350 (GRCm39) T615A probably benign Het
Fbxo38 A T 18: 62,648,140 (GRCm39) D799E probably damaging Het
Fdft1 A G 14: 63,389,792 (GRCm39) F288S probably damaging Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Gm4871 C G 5: 144,967,180 (GRCm39) E185Q probably damaging Het
Gm5901 C A 7: 105,026,655 (GRCm39) P141Q probably damaging Het
Herc1 T A 9: 66,306,691 (GRCm39) I933N probably benign Het
Ifih1 T C 2: 62,442,062 (GRCm39) Q385R probably benign Het
Ighmbp2 T C 19: 3,315,518 (GRCm39) E634G probably damaging Het
Klk6 C G 7: 43,478,553 (GRCm39) probably null Het
Kmt2d A G 15: 98,752,111 (GRCm39) probably benign Het
Lig3 T A 11: 82,688,118 (GRCm39) probably null Het
Lrp1b T C 2: 41,234,456 (GRCm39) D310G probably null Het
Mroh6 A G 15: 75,756,849 (GRCm39) V571A possibly damaging Het
Olfm5 A G 7: 103,809,190 (GRCm39) S132P probably damaging Het
Or52n20 T C 7: 104,320,733 (GRCm39) S275P probably damaging Het
Or5p64 A T 7: 107,854,842 (GRCm39) F168I probably benign Het
Pacc1 T C 1: 191,080,665 (GRCm39) V295A probably damaging Het
Patj G C 4: 98,407,218 (GRCm39) S4T probably damaging Het
Pcdhga12 T A 18: 37,899,475 (GRCm39) C102* probably null Het
Pik3ap1 T C 19: 41,270,391 (GRCm39) D766G possibly damaging Het
Plch2 A T 4: 155,083,411 (GRCm39) L408Q probably damaging Het
Pnma2 G T 14: 67,154,209 (GRCm39) R211L probably damaging Het
Prkg2 T A 5: 99,117,850 (GRCm39) H468L probably damaging Het
Rad1 T A 15: 10,488,059 (GRCm39) probably null Het
Rims3 A G 4: 120,748,571 (GRCm39) D264G probably damaging Het
Rnf123 AT ATT 9: 107,941,202 (GRCm39) probably null Het
Rrm2 T A 12: 24,760,406 (GRCm39) Y75* probably null Het
Slc26a5 T C 5: 22,018,899 (GRCm39) T610A possibly damaging Het
Snx29 G T 16: 11,556,268 (GRCm39) E766D probably damaging Het
Sox17 A G 1: 4,562,111 (GRCm39) V298A possibly damaging Het
Ss18 G A 18: 14,774,106 (GRCm39) Q228* probably null Het
Tas2r121 A G 6: 132,677,811 (GRCm39) S54P probably damaging Het
Ttc21b T C 2: 66,066,627 (GRCm39) E342G possibly damaging Het
Ubap2l A G 3: 89,920,037 (GRCm39) Y818H probably damaging Het
Usp15 C A 10: 123,004,256 (GRCm39) R166I probably damaging Het
Vmn1r34 T G 6: 66,614,123 (GRCm39) H205P probably damaging Het
Vmn2r22 A T 6: 123,627,593 (GRCm39) M1K probably null Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Zdhhc1 T C 8: 106,210,402 (GRCm39) N5S probably benign Het
Zfp758 T A 17: 22,594,836 (GRCm39) C441S probably benign Het
Zp2 T C 7: 119,737,315 (GRCm39) E291G possibly damaging Het
Other mutations in Sall3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Sall3 APN 18 81,016,447 (GRCm39) missense probably damaging 0.98
IGL01630:Sall3 APN 18 81,014,484 (GRCm39) missense probably benign 0.03
IGL01713:Sall3 APN 18 81,013,062 (GRCm39) missense probably damaging 1.00
IGL01803:Sall3 APN 18 81,013,047 (GRCm39) missense possibly damaging 0.65
IGL02627:Sall3 APN 18 81,015,576 (GRCm39) missense possibly damaging 0.86
IGL02858:Sall3 APN 18 81,012,728 (GRCm39) missense probably damaging 1.00
IGL03177:Sall3 APN 18 81,016,183 (GRCm39) missense probably benign 0.00
fountain UTSW 18 81,017,691 (GRCm39) missense probably damaging 0.99
IGL02984:Sall3 UTSW 18 81,016,665 (GRCm39) missense probably benign 0.01
R1055:Sall3 UTSW 18 81,013,007 (GRCm39) missense probably benign 0.24
R1258:Sall3 UTSW 18 81,017,280 (GRCm39) missense probably damaging 1.00
R1932:Sall3 UTSW 18 81,012,968 (GRCm39) missense probably benign 0.44
R1976:Sall3 UTSW 18 81,015,108 (GRCm39) missense probably benign 0.42
R2124:Sall3 UTSW 18 81,015,012 (GRCm39) missense probably benign 0.01
R2142:Sall3 UTSW 18 81,013,046 (GRCm39) missense probably damaging 0.98
R2199:Sall3 UTSW 18 81,015,085 (GRCm39) missense probably benign 0.27
R2365:Sall3 UTSW 18 81,015,007 (GRCm39) missense probably benign 0.01
R3856:Sall3 UTSW 18 81,015,717 (GRCm39) missense probably damaging 1.00
R4022:Sall3 UTSW 18 81,013,055 (GRCm39) missense probably benign 0.05
R4050:Sall3 UTSW 18 81,014,697 (GRCm39) missense probably benign 0.03
R4085:Sall3 UTSW 18 81,015,348 (GRCm39) missense probably damaging 0.99
R4764:Sall3 UTSW 18 81,017,691 (GRCm39) missense probably damaging 0.99
R4874:Sall3 UTSW 18 81,017,188 (GRCm39) missense probably benign 0.33
R4948:Sall3 UTSW 18 81,014,626 (GRCm39) missense probably benign 0.20
R5602:Sall3 UTSW 18 81,016,027 (GRCm39) missense probably benign
R6063:Sall3 UTSW 18 81,017,470 (GRCm39) missense possibly damaging 0.52
R6256:Sall3 UTSW 18 81,013,076 (GRCm39) missense possibly damaging 0.74
R6431:Sall3 UTSW 18 81,016,402 (GRCm39) missense possibly damaging 0.94
R6523:Sall3 UTSW 18 81,016,403 (GRCm39) missense possibly damaging 0.68
R6719:Sall3 UTSW 18 81,014,721 (GRCm39) missense probably damaging 0.99
R6861:Sall3 UTSW 18 81,017,590 (GRCm39) nonsense probably null
R7078:Sall3 UTSW 18 81,017,314 (GRCm39) missense probably damaging 0.97
R7107:Sall3 UTSW 18 81,016,969 (GRCm39) missense probably benign 0.01
R7108:Sall3 UTSW 18 81,016,969 (GRCm39) missense probably benign 0.01
R7453:Sall3 UTSW 18 81,015,255 (GRCm39) missense probably benign 0.07
R7491:Sall3 UTSW 18 81,015,920 (GRCm39) missense probably benign 0.03
R7496:Sall3 UTSW 18 81,016,579 (GRCm39) missense probably benign 0.07
R7584:Sall3 UTSW 18 81,017,745 (GRCm39) missense probably benign 0.00
R7599:Sall3 UTSW 18 81,015,267 (GRCm39) missense possibly damaging 0.56
R7809:Sall3 UTSW 18 81,017,575 (GRCm39) missense probably benign 0.00
R8244:Sall3 UTSW 18 81,016,969 (GRCm39) missense probably benign 0.01
R8245:Sall3 UTSW 18 81,016,969 (GRCm39) missense probably benign 0.01
R8250:Sall3 UTSW 18 81,016,743 (GRCm39) missense probably benign 0.01
R8335:Sall3 UTSW 18 81,012,801 (GRCm39) missense probably benign 0.35
R8360:Sall3 UTSW 18 81,017,232 (GRCm39) missense probably benign 0.31
R8410:Sall3 UTSW 18 81,016,969 (GRCm39) missense probably benign 0.01
R8476:Sall3 UTSW 18 81,015,333 (GRCm39) nonsense probably null
R8712:Sall3 UTSW 18 81,017,236 (GRCm39) missense probably benign 0.03
R8726:Sall3 UTSW 18 81,029,708 (GRCm39) missense possibly damaging 0.89
R9192:Sall3 UTSW 18 81,017,124 (GRCm39) missense probably benign 0.05
R9653:Sall3 UTSW 18 81,016,228 (GRCm39) missense probably benign 0.03
R9701:Sall3 UTSW 18 81,017,443 (GRCm39) missense probably benign 0.07
Z1176:Sall3 UTSW 18 81,015,975 (GRCm39) missense probably benign 0.19
Z1177:Sall3 UTSW 18 81,017,491 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CTAGACTTACTGGGAGCTGAGG -3'
(R):5'- TCTAATAGAAGGTGCTCGGGG -3'

Sequencing Primer
(F):5'- TGAGGGATGCCTCCGTTC -3'
(R):5'- TCTGCTGACCCCAGACTAATACTTAG -3'
Posted On 2016-07-22