Incidental Mutation 'IGL02354:Sall1'
ID 289617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sall1
Ensembl Gene ENSMUSG00000031665
Gene Name spalt like transcription factor 1
Synonyms Msal-3
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # IGL02354
Quality Score
Status
Chromosome 8
Chromosomal Location 89753867-89770790 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 89759677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 142 (S142R)
Ref Sequence ENSEMBL: ENSMUSP00000034090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034090]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034090
AA Change: S142R

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000034090
Gene: ENSMUSG00000031665
AA Change: S142R

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp1 A C 6: 55,322,498 (GRCm39) L164F possibly damaging Het
Bfsp1 T C 2: 143,673,907 (GRCm39) E261G probably damaging Het
Brinp2 A G 1: 158,074,748 (GRCm39) C458R probably damaging Het
Cacng3 T G 7: 122,271,169 (GRCm39) M58R possibly damaging Het
Cfap43 A T 19: 47,885,852 (GRCm39) C254* probably null Het
Cnga1 T C 5: 72,774,061 (GRCm39) probably null Het
Dis3 A T 14: 99,317,148 (GRCm39) Y765* probably null Het
Dpep1 T A 8: 123,926,957 (GRCm39) S260R probably benign Het
Elmod1 A G 9: 53,838,842 (GRCm39) L106P probably damaging Het
Fut10 A G 8: 31,691,398 (GRCm39) Y81C probably damaging Het
Fzd10 T A 5: 128,678,932 (GRCm39) D217E possibly damaging Het
Gap43 T C 16: 42,160,871 (GRCm39) probably benign Het
Gigyf1 T C 5: 137,517,989 (GRCm39) probably benign Het
Gpc5 C T 14: 115,370,699 (GRCm39) R175* probably null Het
Gpi-ps T C 8: 5,690,896 (GRCm39) noncoding transcript Het
Gpr61 A G 3: 108,057,534 (GRCm39) S376P probably damaging Het
Kcna1 C A 6: 126,619,869 (GRCm39) Q150H probably damaging Het
Lama5 A T 2: 179,835,677 (GRCm39) C1225* probably null Het
Lrrc25 A T 8: 71,070,477 (GRCm39) D86V probably benign Het
Madd A T 2: 90,992,543 (GRCm39) V1043E probably benign Het
Mov10 A T 3: 104,711,437 (GRCm39) probably benign Het
Mzb1 T A 18: 35,782,250 (GRCm39) H46L possibly damaging Het
Nos3 A T 5: 24,572,621 (GRCm39) I187F probably damaging Het
Or4c1 T A 2: 89,133,526 (GRCm39) M137L probably benign Het
Or5p53 T A 7: 107,533,484 (GRCm39) Y252* probably null Het
Or6c69c A G 10: 129,911,143 (GRCm39) Y288C probably damaging Het
Pgap1 T C 1: 54,551,975 (GRCm39) T486A probably benign Het
Prdm9 C T 17: 15,783,109 (GRCm39) V58M probably damaging Het
Prkd2 A G 7: 16,581,583 (GRCm39) Y146C probably damaging Het
Psmd9 G T 5: 123,386,379 (GRCm39) R175I probably damaging Het
Pxdn A G 12: 30,049,188 (GRCm39) D618G probably damaging Het
Rgs6 A T 12: 82,665,393 (GRCm39) probably benign Het
Rrm2 G T 12: 24,761,438 (GRCm39) probably benign Het
Shank3 T C 15: 89,388,536 (GRCm39) V376A probably damaging Het
Slc5a10 A G 11: 61,610,666 (GRCm39) probably null Het
Slfn3 A T 11: 83,104,068 (GRCm39) Q313L possibly damaging Het
Snapc4 A G 2: 26,257,319 (GRCm39) probably benign Het
Sptbn1 A T 11: 30,060,783 (GRCm39) F2062L probably damaging Het
Tbc1d10a T C 11: 4,165,047 (GRCm39) V500A probably benign Het
Tcea1 T C 1: 4,966,570 (GRCm39) probably benign Het
Thsd7a T C 6: 12,348,192 (GRCm39) probably benign Het
Tm9sf4 C T 2: 153,029,570 (GRCm39) T173M probably benign Het
Tmtc2 T C 10: 105,107,387 (GRCm39) T709A probably benign Het
Zfp385b T C 2: 77,280,647 (GRCm39) E97G probably damaging Het
Zim1 A T 7: 6,685,873 (GRCm39) probably null 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
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
R1477:Sall1 UTSW 8 89,759,510 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16