Incidental Mutation 'IGL02943:Sall1'
ID364604
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sall1
Ensembl Gene ENSMUSG00000031665
Gene Namespalt like transcription factor 1
SynonymsMsal-3
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.951) question?
Stock #IGL02943
Quality Score
Status
Chromosome8
Chromosomal Location89027235-89044162 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 89031121 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 785 (R785H)
Ref Sequence ENSEMBL: ENSMUSP00000034090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034090]
Predicted Effect probably damaging
Transcript: ENSMUST00000034090
AA Change: R785H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034090
Gene: ENSMUSG00000031665
AA Change: R785H

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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A G 7: 28,147,188 R1102G probably damaging Het
Akp3 T A 1: 87,126,369 Y236* probably null Het
Ankrd13c C T 3: 157,947,927 T134M probably damaging Het
Arhgef18 T C 8: 3,448,553 S529P probably damaging Het
Cdkl2 T A 5: 92,037,244 N96I possibly damaging Het
Cep57 A T 9: 13,818,853 probably benign Het
Chchd7 T C 4: 3,942,796 Y44H probably damaging Het
Ciart T C 3: 95,879,002 I254V possibly damaging Het
Cyp2a12 T C 7: 27,032,542 I236T probably benign Het
Dlgap5 A G 14: 47,412,976 probably null Het
Ednra T A 8: 77,720,054 I132F probably damaging Het
En2 T C 5: 28,166,526 probably benign Het
Fsip2 C A 2: 82,992,357 Q6145K probably benign Het
Galnt5 A T 2: 57,999,768 D460V probably damaging Het
Gm6401 C T 14: 41,966,894 E73K possibly damaging Het
Gpr84 T C 15: 103,308,889 I254V probably benign Het
Hacd3 A T 9: 64,990,436 I298N probably damaging Het
Hyal6 T A 6: 24,743,439 V378E probably damaging Het
Il20rb G T 9: 100,466,252 H210N probably benign Het
Iqgap2 A G 13: 95,661,735 probably benign Het
Itga1 C T 13: 115,049,296 E57K possibly damaging Het
Jmjd1c T A 10: 67,219,654 D571E probably damaging Het
Kmt2c T C 5: 25,290,823 S623G probably damaging Het
L3mbtl2 T A 15: 81,686,255 S645T possibly damaging Het
Lrp2 A G 2: 69,455,510 V3779A possibly damaging Het
Lrpprc T C 17: 84,771,450 R279G probably benign Het
Lurap1l A G 4: 80,953,635 K122E probably damaging Het
Met T C 6: 17,535,929 Y785H possibly damaging Het
Myh3 T C 11: 67,091,065 F796L probably benign Het
Myo16 T C 8: 10,400,595 probably benign Het
Nedd4l T C 18: 65,161,652 probably null Het
Nlrp4c T C 7: 6,065,975 C292R probably damaging Het
Nmnat1 A G 4: 149,473,288 L99P probably damaging Het
Olfr340 A T 2: 36,453,039 L151F probably benign Het
Olfr488 A G 7: 108,255,416 F241L possibly damaging Het
Pclo T C 5: 14,669,221 V1124A unknown Het
Phf20l1 A G 15: 66,594,884 Y54C probably damaging Het
Postn T C 3: 54,377,608 probably null Het
Ppp2r1b A G 9: 50,883,585 D570G probably damaging Het
Prdm2 A C 4: 143,131,972 S1583A probably benign Het
Proser1 T C 3: 53,479,103 V802A probably damaging Het
Ptprc A T 1: 138,099,513 N532K probably damaging Het
Ptprk A G 10: 28,475,176 H555R possibly damaging Het
Ranbp6 T C 19: 29,812,124 D276G possibly damaging Het
Rasgrf2 A G 13: 91,983,633 V635A probably damaging Het
Rbm5 T C 9: 107,744,343 Y620C probably damaging Het
Slc22a2 G T 17: 12,610,061 L351F probably damaging Het
Sorcs3 A T 19: 48,759,938 Q782L probably benign Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tas2r107 T A 6: 131,659,406 M227L probably damaging Het
Tecpr2 C T 12: 110,967,749 T1281I probably benign Het
Topbp1 T A 9: 103,328,440 V759E probably benign Het
Trim2 T C 3: 84,178,176 T504A probably benign Het
Trpc1 A G 9: 95,708,853 probably benign Het
Tssk4 T A 14: 55,651,566 V183E probably damaging Het
Vmn1r202 T C 13: 22,502,194 T18A probably benign Het
Vmn1r225 T C 17: 20,502,305 S3P possibly damaging Het
Vmn2r101 T A 17: 19,611,404 V554E probably damaging Het
Vps13a T C 19: 16,663,886 I2291V probably damaging Het
Vps39 A G 2: 120,339,487 S195P possibly damaging Het
Zfand4 T A 6: 116,273,876 probably benign Het
Other mutations in Sall1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Sall1 APN 8 89033344 missense probably damaging 1.00
IGL01670:Sall1 APN 8 89031571 missense probably benign 0.01
IGL01795:Sall1 APN 8 89028680 missense probably benign 0.02
IGL02041:Sall1 APN 8 89031469 missense probably damaging 1.00
IGL02078:Sall1 APN 8 89030375 missense probably damaging 0.99
IGL02105:Sall1 APN 8 89032568 missense probably damaging 0.99
IGL02354:Sall1 APN 8 89033049 missense probably benign 0.10
IGL02727:Sall1 APN 8 89030755 missense probably damaging 1.00
IGL03179:Sall1 APN 8 89031661 missense probably benign 0.00
PIT4651001:Sall1 UTSW 8 89031103 missense probably damaging 1.00
R0089:Sall1 UTSW 8 89030268 missense probably benign 0.09
R0386:Sall1 UTSW 8 89032604 missense probably damaging 1.00
R0532:Sall1 UTSW 8 89033191 missense probably benign
R0555:Sall1 UTSW 8 89031758 missense probably benign 0.16
R1203:Sall1 UTSW 8 89031934 missense probably damaging 1.00
R1406:Sall1 UTSW 8 89032444 missense probably benign 0.34
R1406:Sall1 UTSW 8 89032444 missense probably benign 0.34
R1449:Sall1 UTSW 8 89032483 missense probably benign
R1477:Sall1 UTSW 8 89032882 missense probably damaging 1.00
R1692:Sall1 UTSW 8 89028400 missense probably benign 0.00
R1839:Sall1 UTSW 8 89028716 missense possibly damaging 0.89
R2016:Sall1 UTSW 8 89028409 missense probably benign 0.10
R2041:Sall1 UTSW 8 89032801 missense probably benign
R3808:Sall1 UTSW 8 89031473 nonsense probably null
R3816:Sall1 UTSW 8 89032675 missense probably benign 0.00
R4085:Sall1 UTSW 8 89028509 missense probably benign
R4604:Sall1 UTSW 8 89030341 missense probably damaging 1.00
R4701:Sall1 UTSW 8 89031160 missense probably damaging 1.00
R5760:Sall1 UTSW 8 89028650 missense possibly damaging 0.94
R6091:Sall1 UTSW 8 89028619 missense probably damaging 1.00
R6213:Sall1 UTSW 8 89033058 small deletion probably benign
R6326:Sall1 UTSW 8 89030268 missense probably benign 0.09
R6920:Sall1 UTSW 8 89030393 missense probably damaging 1.00
R6954:Sall1 UTSW 8 89032891 missense probably damaging 1.00
R7395:Sall1 UTSW 8 89030921 missense possibly damaging 0.86
R7396:Sall1 UTSW 8 89032768 missense probably damaging 1.00
R7493:Sall1 UTSW 8 89031053 missense probably benign 0.32
R7555:Sall1 UTSW 8 89033158 missense possibly damaging 0.90
R7672:Sall1 UTSW 8 89031299 missense probably damaging 0.99
R7759:Sall1 UTSW 8 89042351 critical splice donor site probably null
R7834:Sall1 UTSW 8 89033374 missense probably benign 0.42
R8023:Sall1 UTSW 8 89032543 missense probably damaging 0.99
R8166:Sall1 UTSW 8 89028518 missense probably benign 0.27
Posted On2015-12-18