Incidental Mutation 'IGL02078:Sall1'
ID186030
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: 0.943) question?
Stock #IGL02078
Quality Score
Status
Chromosome8
Chromosomal Location89027235-89044162 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 89030375 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 1034 (N1034Y)
Ref Sequence ENSEMBL: ENSMUSP00000034090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034090]
Predicted Effect probably damaging
Transcript: ENSMUST00000034090
AA Change: N1034Y

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034090
Gene: ENSMUSG00000031665
AA Change: N1034Y

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A C 4: 42,972,685 K673Q possibly damaging Het
4933412E24Rik T C 15: 60,016,330 D87G probably benign Het
Acap1 C T 11: 69,895,286 R18Q probably damaging Het
Atp1a1 A C 3: 101,591,863 V140G probably damaging Het
Bmpr1b G A 3: 141,870,737 P112S possibly damaging Het
Chst8 T A 7: 34,675,334 N360I possibly damaging Het
Cldn23 A T 8: 35,826,205 V43E possibly damaging Het
Clta T C 4: 44,030,232 F168S probably damaging Het
Cyp2c40 T C 19: 39,767,482 I463V probably benign Het
E2f2 A G 4: 136,193,012 D436G probably damaging Het
Fbxo24 T G 5: 137,624,349 T52P probably damaging Het
Gria4 G A 9: 4,793,878 A60V probably damaging Het
Grm1 C T 10: 10,689,610 V985M probably benign Het
Hexa A G 9: 59,557,303 T159A probably benign Het
Inf2 T A 12: 112,601,614 V200E probably damaging Het
Kif20b T A 19: 34,935,644 V319E probably damaging Het
Klhl10 A G 11: 100,445,751 D188G probably benign Het
Mobp G A 9: 120,167,914 R37H probably damaging Het
Mybpc2 T A 7: 44,503,780 D1086V probably damaging Het
Nadk A C 4: 155,579,403 probably benign Het
Olfr853 T A 9: 19,537,453 H159L probably benign Het
Per1 A G 11: 69,104,299 E619G probably damaging Het
Rab3gap1 G A 1: 127,868,915 probably benign Het
Rimkla A G 4: 119,468,147 L355P probably damaging Het
Rnf139 A G 15: 58,900,031 D635G possibly damaging Het
Serpinb13 A T 1: 106,998,958 Q228L probably damaging Het
Sin3b G T 8: 72,753,580 M903I possibly damaging Het
Slco1a5 A T 6: 142,254,446 M204K probably benign Het
Smo A G 6: 29,754,708 D259G possibly damaging Het
Sult2a4 T C 7: 13,989,544 I15M probably benign Het
Ttn T A 2: 76,942,441 probably null Het
Wdtc1 C A 4: 133,305,960 D176Y probably damaging 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
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
IGL02943:Sall1 APN 8 89031121 missense probably damaging 0.99
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 On2014-05-07