Incidental Mutation 'R1449:Sall1'
ID 159132
Institutional Source Beutler Lab
Gene Symbol Sall1
Ensembl Gene ENSMUSG00000031665
Gene Name spalt like transcription factor 1
Synonyms Msal-3
MMRRC Submission 039504-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R1449 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 89753867-89770790 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89759111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 331 (I331T)
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: I331T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034090
Gene: ENSMUSG00000031665
AA Change: I331T

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: 98.8%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.4%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A G 4: 137,182,666 (GRCm39) N274D possibly damaging Het
6430571L13Rik T A 9: 107,219,689 (GRCm39) N47K probably damaging Het
Aasdh C T 5: 77,034,136 (GRCm39) A472T probably benign Het
Abca13 A G 11: 9,248,580 (GRCm39) T2776A probably damaging Het
Adamts10 T A 17: 33,764,613 (GRCm39) V711D probably damaging Het
Adrb3 G A 8: 27,717,415 (GRCm39) R345C probably damaging Het
Ak7 T C 12: 105,708,520 (GRCm39) V325A possibly damaging Het
Armc6 G A 8: 70,677,943 (GRCm39) L129F probably benign Het
Bend6 T C 1: 33,917,424 (GRCm39) N10S probably benign Het
Bmpr1b T C 3: 141,577,134 (GRCm39) E59G possibly damaging Het
Brd3 A G 2: 27,340,263 (GRCm39) probably null Het
Brd3 A G 2: 27,347,028 (GRCm39) Y369H probably damaging Het
Cacna1e C T 1: 154,361,408 (GRCm39) probably null Het
Camk4 A G 18: 33,072,528 (GRCm39) D27G probably damaging Het
Camkk1 T G 11: 72,924,710 (GRCm39) S308A probably damaging Het
Catsperb A G 12: 101,554,456 (GRCm39) T717A probably benign Het
Cdh23 A T 10: 60,212,730 (GRCm39) S1563R probably damaging Het
Cep44 A T 8: 56,993,985 (GRCm39) S197R probably benign Het
Col3a1 T A 1: 45,360,771 (GRCm39) I67N unknown Het
Dcaf12l1 T C X: 43,878,304 (GRCm39) T165A probably benign Het
Dicer1 T C 12: 104,695,502 (GRCm39) Y143C possibly damaging Het
Dlg5 A G 14: 24,185,711 (GRCm39) I1898T possibly damaging Het
Dnah1 T C 14: 30,985,908 (GRCm39) N3762D probably damaging Het
Dscaml1 A T 9: 45,653,521 (GRCm39) T1382S possibly damaging Het
Entpd3 A T 9: 120,395,555 (GRCm39) R513W probably damaging Het
Foxred1 A G 9: 35,120,738 (GRCm39) S132P probably damaging Het
Ftsj3 T C 11: 106,143,826 (GRCm39) I273V probably benign Het
Hsd17b7 C T 1: 169,787,251 (GRCm39) probably null Het
Iars1 T A 13: 49,887,186 (GRCm39) V1253D probably damaging Het
Iqsec1 T A 6: 90,667,790 (GRCm39) K216* probably null Het
Itga7 A G 10: 128,789,370 (GRCm39) D971G probably benign Het
Kcnk2 G A 1: 189,072,223 (GRCm39) S35L probably benign Het
Kif13a T C 13: 46,966,212 (GRCm39) Y402C probably damaging Het
Lamc1 A G 1: 153,126,241 (GRCm39) S484P probably benign Het
Lap3 T C 5: 45,666,861 (GRCm39) probably null Het
Lhx8 G T 3: 154,033,742 (GRCm39) S46* probably null Het
Lin7a T C 10: 107,159,813 (GRCm39) S42P probably damaging Het
Lrba G A 3: 86,261,585 (GRCm39) R1513Q probably damaging Het
Maml2 C A 9: 13,531,980 (GRCm39) P398Q possibly damaging Het
Mast2 T C 4: 116,166,210 (GRCm39) I1201V probably damaging Het
Mmp20 A T 9: 7,642,769 (GRCm39) D201V probably damaging Het
Morn5 T A 2: 35,947,092 (GRCm39) C123* probably null Het
Mrpl4 A G 9: 20,918,807 (GRCm39) K175E possibly damaging Het
Nav3 A T 10: 109,689,372 (GRCm39) S302T probably benign Het
Ndrg2 T C 14: 52,145,591 (GRCm39) Y217C probably damaging Het
Nfx1 A G 4: 40,976,803 (GRCm39) D159G probably damaging Het
Nlrp9b A T 7: 19,757,089 (GRCm39) T109S possibly damaging Het
Npepps A G 11: 97,097,980 (GRCm39) Y909H probably benign Het
Or10g1 A G 14: 52,648,024 (GRCm39) C102R probably damaging Het
Or11g7 A G 14: 50,691,378 (GRCm39) N290D probably damaging Het
Or51a25 A T 7: 102,373,397 (GRCm39) F100Y probably damaging Het
Or6c211 T A 10: 129,506,238 (GRCm39) D50V probably damaging Het
Or6c69b A C 10: 129,626,723 (GRCm39) V245G probably damaging Het
Pcdh1 T C 18: 38,322,929 (GRCm39) H968R probably damaging Het
Pde1b T A 15: 103,433,470 (GRCm39) I296N probably damaging Het
Phldb1 T A 9: 44,627,930 (GRCm39) T172S probably benign Het
Plxdc2 T C 2: 16,665,592 (GRCm39) V215A possibly damaging Het
Poln A G 5: 34,171,682 (GRCm39) I695T probably damaging Het
Pou6f2 G T 13: 18,347,000 (GRCm39) Q31K probably damaging Het
Psd T A 19: 46,313,250 (GRCm39) Y40F probably damaging Het
Rnf126 T C 10: 79,597,448 (GRCm39) N155D probably benign Het
Rpl36-ps3 C A 12: 12,962,032 (GRCm39) noncoding transcript Het
Rrp15 C A 1: 186,468,465 (GRCm39) V184F possibly damaging Het
Rslcan18 G T 13: 67,250,164 (GRCm39) L24M possibly damaging Het
Slamf7 A T 1: 171,468,606 (GRCm39) N95K possibly damaging Het
Slc1a6 T C 10: 78,635,951 (GRCm39) Y339H probably damaging Het
Slc39a8 A G 3: 135,532,446 (GRCm39) N72D probably benign Het
Slf1 A G 13: 77,231,568 (GRCm39) S604P probably damaging Het
Slfn4 C T 11: 83,079,819 (GRCm39) T110M probably benign Het
Tnpo1 T C 13: 99,015,220 (GRCm39) T116A probably damaging Het
Tor1b T C 2: 30,845,893 (GRCm39) I190T probably damaging Het
Ttn C A 2: 76,800,138 (GRCm39) E357* probably null Het
Tubg2 G T 11: 101,047,699 (GRCm39) E95* probably null Het
Ubap2 A G 4: 41,209,351 (GRCm39) probably null Het
Ube2i T C 17: 25,487,538 (GRCm39) D67G possibly damaging Het
Ubxn11 A G 4: 133,852,203 (GRCm39) E50G probably damaging Het
Wnk1 A G 6: 119,929,779 (GRCm39) V1246A probably damaging Het
Zcchc7 A G 4: 44,929,124 (GRCm39) T38A possibly damaging Het
Zfp236 A G 18: 82,664,130 (GRCm39) S552P probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GCTTATTGCGAATGCTGGTGAGGAC -3'
(R):5'- CTGCTCATCTCAACCCTCATGGAAC -3'

Sequencing Primer
(F):5'- ATGCTGGTGAGGACGATGC -3'
(R):5'- ATGGAACAACTCCTGGCTCTG -3'
Posted On 2014-03-14