Incidental Mutation 'R2365:Sall3'
ID 246311
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 040346-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2365 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 81010204-81030236 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 81015007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Alanine at position 974 (P974A)
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: P974A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000056967
Gene: ENSMUSG00000024565
AA Change: P974A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 94% (34/36)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 T A 16: 29,070,008 (GRCm39) K959N probably benign Het
C4b G A 17: 34,955,032 (GRCm39) probably benign Het
Cdhr2 T G 13: 54,865,901 (GRCm39) S268R probably benign Het
Erc1 A G 6: 119,552,656 (GRCm39) L1094P probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fat4 A G 3: 39,034,568 (GRCm39) H2740R probably benign Het
Galnt13 A G 2: 54,744,709 (GRCm39) Y136C possibly damaging Het
Gipc2 A G 3: 151,833,831 (GRCm39) I150T possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm21957 T C 7: 124,818,629 (GRCm39) noncoding transcript Het
Gm5591 T A 7: 38,218,825 (GRCm39) R683W probably damaging Het
Gm826 A G 2: 160,169,130 (GRCm39) S60P unknown Het
Hsd17b7 T C 1: 169,792,009 (GRCm39) D133G probably damaging Het
Kera A G 10: 97,444,805 (GRCm39) T55A probably benign Het
Mff T C 1: 82,713,192 (GRCm39) V129A possibly damaging Het
Myo7b A G 18: 32,147,384 (GRCm39) L53P probably damaging Het
Neo1 A G 9: 58,863,286 (GRCm39) V427A probably benign Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Or52e19 A T 7: 102,959,380 (GRCm39) I151L probably benign Het
Pfkfb3 C T 2: 11,498,713 (GRCm39) probably null Het
Pom121l2 A G 13: 22,167,954 (GRCm39) T742A probably benign Het
Pon1 A G 6: 5,171,746 (GRCm39) S302P probably damaging Het
Rhox3f G T X: 36,763,672 (GRCm39) E140* probably null Het
Slc1a2 T A 2: 102,578,798 (GRCm39) probably null Het
Slc22a6 A G 19: 8,596,761 (GRCm39) T180A probably benign Het
Slc40a1 T C 1: 45,963,873 (GRCm39) probably null Het
Slc6a5 T C 7: 49,596,284 (GRCm39) S585P possibly damaging Het
Tbpl1 A G 10: 22,581,785 (GRCm39) V164A possibly damaging Het
Tmem98 A T 11: 80,706,511 (GRCm39) I95F probably damaging Het
Ush2a C A 1: 188,111,188 (GRCm39) P571T possibly damaging Het
Vars1 A G 17: 35,234,428 (GRCm39) N1125D probably benign Het
Vps13d T C 4: 144,813,894 (GRCm39) probably benign Het
Zbtb18 A T 1: 177,275,723 (GRCm39) E361V probably benign Het
Zc3hav1 A G 6: 38,317,168 (GRCm39) F144S probably 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
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
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'- AGCTCTTTCAACTTGTGTGTCAG -3'
(R):5'- GTCCCCTGCTCACAGTAATG -3'

Sequencing Primer
(F):5'- TTAAGTTACCCATAGTGGAGCAGCC -3'
(R):5'- TCACAGTAATGGTGAGAGCTTCC -3'
Posted On 2014-10-30