Incidental Mutation 'R6063:Sall3'
ID 483954
Institutional Source Beutler Lab
Gene Symbol Sall3
Ensembl Gene ENSMUSG00000024565
Gene Name spalt like transcription factor 3
Synonyms Salt, B130022O04Rik, Spalt, Msal, Msal-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6063 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 81010204-81030236 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 81017470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 153 (P153S)
Ref Sequence ENSEMBL: ENSMUSP00000056967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057950]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000057950
AA Change: P153S

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000056967
Gene: ENSMUSG00000024565
AA Change: P153S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185180
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G A 17: 24,483,318 (GRCm39) R1713C unknown Het
Ano6 C T 15: 95,846,298 (GRCm39) T512I probably damaging Het
Ap3s1 T C 18: 46,887,505 (GRCm39) V46A probably benign Het
Art2a C A 7: 101,204,413 (GRCm39) V42F probably damaging Het
Asph C T 4: 9,531,960 (GRCm39) V386M probably benign Het
B4galnt4 T A 7: 140,644,643 (GRCm39) D179E probably benign Het
Bbx T C 16: 50,071,730 (GRCm39) I232V probably benign Het
C1ql2 A G 1: 120,269,321 (GRCm39) I159V probably benign Het
Ccar1 A G 10: 62,612,496 (GRCm39) V223A possibly damaging Het
Cd2ap A T 17: 43,136,802 (GRCm39) L277I probably benign Het
Cfap44 G A 16: 44,250,255 (GRCm39) E778K probably benign Het
Chd3 A T 11: 69,240,063 (GRCm39) D1626E probably benign Het
Crocc C T 4: 140,769,032 (GRCm39) G505S probably benign Het
Crocc T A 4: 140,773,851 (GRCm39) Q72L probably damaging Het
Drosha T C 15: 12,834,156 (GRCm39) probably benign Het
Eps8l1 T A 7: 4,474,296 (GRCm39) S256T possibly damaging Het
F830045P16Rik A G 2: 129,316,310 (GRCm39) V133A probably damaging Het
Fermt2 A T 14: 45,697,338 (GRCm39) M671K possibly damaging Het
Fhdc1 G A 3: 84,353,336 (GRCm39) L630F probably benign Het
Gon4l T C 3: 88,807,306 (GRCm39) S1667P probably damaging Het
Greb1l A C 18: 10,557,340 (GRCm39) K1780T probably damaging Het
H2-Q10 C T 17: 35,781,026 (GRCm39) T8M probably benign Het
Hmcn2 A T 2: 31,324,725 (GRCm39) T4215S probably benign Het
I0C0044D17Rik G A 4: 98,708,576 (GRCm39) probably benign Het
Ifi204 A G 1: 173,579,223 (GRCm39) F541L probably benign Het
Igkv6-17 C T 6: 70,348,764 (GRCm39) A45V probably damaging Het
Intu G A 3: 40,608,524 (GRCm39) A161T probably damaging Het
Kcnmb2 A G 3: 32,233,141 (GRCm39) Y73C probably damaging Het
Lrit1 T C 14: 36,776,945 (GRCm39) F22L probably benign Het
Lrp1b A T 2: 41,174,156 (GRCm39) C699* probably null Het
Lrrc8d A G 5: 105,959,992 (GRCm39) D134G probably benign Het
Map1b T C 13: 99,567,645 (GRCm39) D1692G unknown Het
Met C T 6: 17,491,967 (GRCm39) S243F probably damaging Het
Mlph C A 1: 90,855,882 (GRCm39) H96Q probably damaging Het
Mycbp2 A T 14: 103,372,582 (GRCm39) V4088D probably damaging Het
Nampt T A 12: 32,898,658 (GRCm39) S425T probably damaging Het
Nts G A 10: 102,320,856 (GRCm39) H78Y probably benign Het
Nxf1 A G 19: 8,745,151 (GRCm39) E467G possibly damaging Het
Olfml2a C A 2: 38,841,155 (GRCm39) D230E probably benign Het
Or4b13 C A 2: 90,082,771 (GRCm39) C187F probably benign Het
Or52n2c C T 7: 104,574,599 (GRCm39) R124H probably benign Het
Pcsk5 A G 19: 17,432,045 (GRCm39) probably null Het
Pde5a C A 3: 122,618,574 (GRCm39) T629K probably benign Het
Plcb3 G T 19: 6,940,202 (GRCm39) R462S possibly damaging Het
Pnpla6 T A 8: 3,574,156 (GRCm39) M469K probably benign Het
Pram1 A T 17: 33,860,386 (GRCm39) K318* probably null Het
Prkd1 T C 12: 50,388,826 (GRCm39) R906G probably benign Het
Ptprh T A 7: 4,576,361 (GRCm39) T300S possibly damaging Het
Rdh16f2 A G 10: 127,712,743 (GRCm39) Y247C probably benign Het
Rimbp3 A G 16: 17,028,781 (GRCm39) E735G probably damaging Het
Samd4b T A 7: 28,123,056 (GRCm39) M1L possibly damaging Het
Septin12 T C 16: 4,810,127 (GRCm39) E136G probably damaging Het
Shpk A T 11: 73,104,270 (GRCm39) K140* probably null Het
Sidt1 G T 16: 44,079,829 (GRCm39) F608L probably benign Het
Skint5 A G 4: 113,347,842 (GRCm39) Y1300H probably benign Het
Slc22a28 G A 19: 8,094,386 (GRCm39) P212S probably benign Het
Slc22a5 A T 11: 53,758,359 (GRCm39) F480L possibly damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc3a1 C T 17: 85,335,951 (GRCm39) P31L probably benign Het
Slc4a7 T C 14: 14,793,964 (GRCm38) V1074A possibly damaging Het
Snx2 C T 18: 53,342,697 (GRCm39) Q254* probably null Het
Sox30 G A 11: 45,882,769 (GRCm39) V600I probably benign Het
Svil T G 18: 5,106,724 (GRCm39) V1855G probably damaging Het
Tdpoz9 A G 3: 93,957,408 (GRCm39) F7L probably benign Het
Tdrd7 A G 4: 46,005,486 (GRCm39) T431A probably benign Het
Tenm2 A T 11: 36,054,544 (GRCm39) probably null Het
Tigar A G 6: 127,068,164 (GRCm39) S85P probably benign Het
Tnr A C 1: 159,740,254 (GRCm39) M1143L probably benign Het
Trio G T 15: 27,891,465 (GRCm39) Q429K possibly damaging Het
Urb1 T C 16: 90,585,985 (GRCm39) I452M probably benign Het
Uroc1 A T 6: 90,324,910 (GRCm39) E461V probably benign Het
Vax1 C A 19: 59,157,036 (GRCm39) R99L unknown Het
Xab2 A T 8: 3,663,051 (GRCm39) I510N possibly damaging Het
Zbtb34 A T 2: 33,301,842 (GRCm39) I233K possibly damaging Het
Zbtb47 A G 9: 121,592,598 (GRCm39) E306G probably benign Het
Zfp27 A G 7: 29,593,727 (GRCm39) F746S probably damaging Het
Zfp719 C T 7: 43,239,050 (GRCm39) Q213* probably null Het
Zswim6 T C 13: 107,865,112 (GRCm39) noncoding transcript 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
R5274:Sall3 UTSW 18 81,013,052 (GRCm39) missense probably benign 0.15
R5602:Sall3 UTSW 18 81,016,027 (GRCm39) missense probably benign
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'- ACTGGCTGAGGGCTTCAATG -3'
(R):5'- CCTCTGAGGACTTTCCAGAACC -3'

Posted On 2017-07-14