Incidental Mutation 'R1477:Sall1'
ID 164133
Institutional Source Beutler Lab
Gene Symbol Sall1
Ensembl Gene ENSMUSG00000031665
Gene Name spalt like transcription factor 1
Synonyms Msal-3
MMRRC Submission 039530-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R1477 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 89753867-89770790 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89759510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 198 (E198G)
Ref Sequence ENSEMBL: ENSMUSP00000034090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034090]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034090
AA Change: E198G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034090
Gene: ENSMUSG00000031665
AA Change: E198G

DomainStartEndE-ValueType
low complexity region 133 152 N/A INTRINSIC
low complexity region 163 175 N/A INTRINSIC
low complexity region 229 257 N/A INTRINSIC
low complexity region 283 309 N/A INTRINSIC
low complexity region 361 396 N/A INTRINSIC
ZnF_C2H2 450 472 2.57e-3 SMART
ZnF_C2H2 478 500 3.21e-4 SMART
low complexity region 547 569 N/A INTRINSIC
ZnF_C2H2 705 727 3.02e0 SMART
ZnF_C2H2 733 755 8.6e-5 SMART
ZnF_C2H2 765 787 1.6e-4 SMART
low complexity region 842 861 N/A INTRINSIC
ZnF_C2H2 1000 1022 2.91e-2 SMART
ZnF_C2H2 1028 1050 4.94e-5 SMART
ZnF_C2H2 1133 1155 1.38e-3 SMART
ZnF_C2H2 1161 1183 1.22e-4 SMART
low complexity region 1257 1277 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit kidney agenesis or dysgenesis and die perinatally. Homozygotes expressing only a truncated protein show renal agenesis, exencephaly, and limb defects; heterozygotes have hearing loss and cystic kidneys. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 A C 19: 55,279,904 (GRCm39) D481A probably benign Het
Adam2 A C 14: 66,315,149 (GRCm39) L8R possibly damaging Het
Ajm1 G C 2: 25,469,765 (GRCm39) H49D possibly damaging Het
Arfgef1 A T 1: 10,259,509 (GRCm39) C619S probably damaging Het
Atm A G 9: 53,375,573 (GRCm39) I2082T probably benign Het
Cgrrf1 A G 14: 47,090,895 (GRCm39) I210M probably benign Het
Clec2e A T 6: 129,072,163 (GRCm39) V72E probably benign Het
Cmtr1 T C 17: 29,916,131 (GRCm39) V587A possibly damaging Het
Col1a2 T C 6: 4,539,673 (GRCm39) F1314L unknown Het
Ctbp2 T C 7: 132,600,670 (GRCm39) E618G probably damaging Het
Dnaaf6rt G A 1: 31,262,104 (GRCm39) V29M probably benign Het
Dock8 A T 19: 25,072,914 (GRCm39) Y398F possibly damaging Het
Ezh1 A T 11: 101,083,810 (GRCm39) D733E probably damaging Het
Fbxl6 A G 15: 76,421,934 (GRCm39) S202P probably benign Het
Fcgbpl1 C A 7: 27,856,518 (GRCm39) Q2102K probably benign Het
Grid2ip G A 5: 143,361,340 (GRCm39) A191T probably damaging Het
Helz2 T C 2: 180,874,597 (GRCm39) S1966G probably benign Het
Ipmk A G 10: 71,217,607 (GRCm39) K385E probably damaging Het
Itga11 G A 9: 62,662,493 (GRCm39) V489I probably benign Het
Klhl6 T C 16: 19,784,727 (GRCm39) K137R probably benign Het
Meis1 G A 11: 18,831,665 (GRCm39) Q458* probably null Het
Mst1r T C 9: 107,785,523 (GRCm39) S394P probably benign Het
Mus81 G T 19: 5,536,362 (GRCm39) H155Q probably benign Het
Neb G A 2: 52,154,134 (GRCm39) L2326F probably damaging Het
Nf1 C T 11: 79,286,685 (GRCm39) Q162* probably null Het
Nin T C 12: 70,090,958 (GRCm39) E819G possibly damaging Het
Nox4 T C 7: 86,945,074 (GRCm39) V79A probably benign Het
Or11g2 A T 14: 50,856,170 (GRCm39) I164F probably damaging Het
Or13a28 T A 7: 140,218,355 (GRCm39) I247N possibly damaging Het
Or5ae2 T A 7: 84,506,225 (GRCm39) I216N probably damaging Het
Or6d12 A T 6: 116,493,626 (GRCm39) Y296F probably damaging Het
Peg3 T A 7: 6,719,141 (GRCm39) D69V probably damaging Het
Pnp2 A G 14: 51,196,992 (GRCm39) E26G probably benign Het
Pnpt1 T A 11: 29,087,102 (GRCm39) C154S probably benign Het
Ppp1r26 C T 2: 28,342,800 (GRCm39) T810I probably benign Het
Ppp2r5b A G 19: 6,280,257 (GRCm39) S349P probably benign Het
Prdm4 C T 10: 85,740,129 (GRCm39) V424I probably benign Het
Rraga A G 4: 86,494,996 (GRCm39) I281V probably benign Het
Serpina9 T C 12: 103,963,362 (GRCm39) D382G possibly damaging Het
Stt3b A G 9: 115,095,260 (GRCm39) V257A probably damaging Het
Taf2 A T 15: 54,925,568 (GRCm39) Y225N possibly damaging Het
Tlr3 A G 8: 45,851,202 (GRCm39) L41P probably damaging Het
Trappc12 A T 12: 28,787,751 (GRCm39) V444E probably benign Het
Trim34a T A 7: 103,897,287 (GRCm39) V117D possibly damaging Het
Ttbk1 A C 17: 46,787,725 (GRCm39) M259R probably benign Het
Ttll12 A G 15: 83,464,303 (GRCm39) V509A probably damaging Het
Ush2a G A 1: 188,581,273 (GRCm39) V3718M probably benign Het
Vps35 T A 8: 86,014,429 (GRCm39) E73D probably damaging Het
Zfp790 C T 7: 29,522,525 (GRCm39) probably benign Het
Other mutations in Sall1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Sall1 APN 8 89,759,972 (GRCm39) missense probably damaging 1.00
IGL01670:Sall1 APN 8 89,758,199 (GRCm39) missense probably benign 0.01
IGL01795:Sall1 APN 8 89,755,308 (GRCm39) missense probably benign 0.02
IGL02041:Sall1 APN 8 89,758,097 (GRCm39) missense probably damaging 1.00
IGL02078:Sall1 APN 8 89,757,003 (GRCm39) missense probably damaging 0.99
IGL02105:Sall1 APN 8 89,759,196 (GRCm39) missense probably damaging 0.99
IGL02354:Sall1 APN 8 89,759,677 (GRCm39) missense probably benign 0.10
IGL02727:Sall1 APN 8 89,757,383 (GRCm39) missense probably damaging 1.00
IGL02943:Sall1 APN 8 89,757,749 (GRCm39) missense probably damaging 0.99
IGL03179:Sall1 APN 8 89,758,289 (GRCm39) missense probably benign 0.00
PIT4651001:Sall1 UTSW 8 89,757,731 (GRCm39) missense probably damaging 1.00
R0089:Sall1 UTSW 8 89,756,896 (GRCm39) missense probably benign 0.09
R0386:Sall1 UTSW 8 89,759,232 (GRCm39) missense probably damaging 1.00
R0532:Sall1 UTSW 8 89,759,819 (GRCm39) missense probably benign
R0555:Sall1 UTSW 8 89,758,386 (GRCm39) missense probably benign 0.16
R1203:Sall1 UTSW 8 89,758,562 (GRCm39) missense probably damaging 1.00
R1406:Sall1 UTSW 8 89,759,072 (GRCm39) missense probably benign 0.34
R1406:Sall1 UTSW 8 89,759,072 (GRCm39) missense probably benign 0.34
R1449:Sall1 UTSW 8 89,759,111 (GRCm39) missense probably benign
R1692:Sall1 UTSW 8 89,755,028 (GRCm39) missense probably benign 0.00
R1839:Sall1 UTSW 8 89,755,344 (GRCm39) missense possibly damaging 0.89
R2016:Sall1 UTSW 8 89,755,037 (GRCm39) missense probably benign 0.10
R2041:Sall1 UTSW 8 89,759,429 (GRCm39) missense probably benign
R3808:Sall1 UTSW 8 89,758,101 (GRCm39) nonsense probably null
R3816:Sall1 UTSW 8 89,759,303 (GRCm39) missense probably benign 0.00
R4085:Sall1 UTSW 8 89,755,137 (GRCm39) missense probably benign
R4604:Sall1 UTSW 8 89,756,969 (GRCm39) missense probably damaging 1.00
R4701:Sall1 UTSW 8 89,757,788 (GRCm39) missense probably damaging 1.00
R5760:Sall1 UTSW 8 89,755,278 (GRCm39) missense possibly damaging 0.94
R6091:Sall1 UTSW 8 89,755,247 (GRCm39) missense probably damaging 1.00
R6213:Sall1 UTSW 8 89,759,686 (GRCm39) small deletion probably benign
R6326:Sall1 UTSW 8 89,756,896 (GRCm39) missense probably benign 0.09
R6920:Sall1 UTSW 8 89,757,021 (GRCm39) missense probably damaging 1.00
R6954:Sall1 UTSW 8 89,759,519 (GRCm39) missense probably damaging 1.00
R7395:Sall1 UTSW 8 89,757,549 (GRCm39) missense possibly damaging 0.86
R7396:Sall1 UTSW 8 89,759,396 (GRCm39) missense probably damaging 1.00
R7493:Sall1 UTSW 8 89,757,681 (GRCm39) missense probably benign 0.32
R7555:Sall1 UTSW 8 89,759,786 (GRCm39) missense possibly damaging 0.90
R7672:Sall1 UTSW 8 89,757,927 (GRCm39) missense probably damaging 0.99
R7759:Sall1 UTSW 8 89,768,979 (GRCm39) critical splice donor site probably null
R7834:Sall1 UTSW 8 89,760,002 (GRCm39) missense probably benign 0.42
R8023:Sall1 UTSW 8 89,759,171 (GRCm39) missense probably damaging 0.99
R8166:Sall1 UTSW 8 89,755,146 (GRCm39) missense probably benign 0.27
R8708:Sall1 UTSW 8 89,759,483 (GRCm39) missense probably damaging 1.00
R9653:Sall1 UTSW 8 89,757,506 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCCAGCAGCAGTATTTGGTG -3'
(R):5'- TTTCAGAACCCAAGGGGCTTGAC -3'

Sequencing Primer
(F):5'- GACGTATTTGCTCTATGAGCTGC -3'
(R):5'- ccaccaccaccaccacc -3'
Posted On 2014-03-28