Incidental Mutation 'R3808:Sall1'
ID 275041
Institutional Source Beutler Lab
Gene Symbol Sall1
Ensembl Gene ENSMUSG00000031665
Gene Name spalt like transcription factor 1
Synonyms Msal-3
MMRRC Submission 040765-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R3808 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 89753867-89770790 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 89758101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 668 (Q668*)
Ref Sequence ENSEMBL: ENSMUSP00000034090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034090]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000034090
AA Change: Q668*
SMART Domains Protein: ENSMUSP00000034090
Gene: ENSMUSG00000031665
AA Change: Q668*

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: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aldh3a2 G T 11: 61,149,623 (GRCm39) L248M probably damaging Het
Als2 A G 1: 59,209,609 (GRCm39) S1458P probably benign Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
Arhgap5 A G 12: 52,613,970 (GRCm39) E192G possibly damaging Het
Atg2a A G 19: 6,302,846 (GRCm39) K1019R possibly damaging Het
Atp2b1 A G 10: 98,839,010 (GRCm39) K613E possibly damaging Het
Carm1 T C 9: 21,498,258 (GRCm39) C421R probably damaging Het
Cdh17 A T 4: 11,795,671 (GRCm39) Y417F probably damaging Het
Cers1 A G 8: 70,782,660 (GRCm39) D10G possibly damaging Het
Clptm1l A C 13: 73,760,573 (GRCm39) M319L probably benign Het
Cntnap3 A G 13: 64,929,618 (GRCm39) V527A probably damaging Het
Creb3l2 A G 6: 37,332,625 (GRCm39) S290P probably damaging Het
Dock4 T G 12: 40,722,809 (GRCm39) V305G probably damaging Het
Dtl A C 1: 191,280,466 (GRCm39) L356R probably damaging Het
Eftud2 A T 11: 102,732,289 (GRCm39) probably null Het
Eif2b4 A G 5: 31,348,512 (GRCm39) S88P possibly damaging Het
Fat4 T G 3: 39,036,587 (GRCm39) V3413G possibly damaging Het
Fgfr2 T C 7: 129,801,578 (GRCm39) M218V probably benign Het
Grin2b A G 6: 135,900,269 (GRCm39) L204P probably damaging Het
Kcnj12 A G 11: 60,961,103 (GRCm39) N467S probably benign Het
Klhdc3 T A 17: 46,988,858 (GRCm39) N111Y possibly damaging Het
Lin9 A G 1: 180,486,676 (GRCm39) I81V probably null Het
Lrp2 T C 2: 69,331,892 (GRCm39) D1621G probably damaging Het
Lrp4 T A 2: 91,307,047 (GRCm39) D389E probably damaging Het
Med15 C T 16: 17,473,598 (GRCm39) probably benign Het
Nbea T C 3: 55,625,269 (GRCm39) N2274S probably benign Het
Nr3c2 G A 8: 77,635,343 (GRCm39) G148D probably damaging Het
Or10s1 A T 9: 39,985,605 (GRCm39) M5L probably benign Het
Or14j6 T C 17: 38,214,464 (GRCm39) V9A probably benign Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Paxip1 A G 5: 27,977,027 (GRCm39) probably benign Het
Pfas T C 11: 68,880,779 (GRCm39) probably benign Het
Plin3 C A 17: 56,593,275 (GRCm39) A96S probably damaging Het
Pnck T A X: 72,700,550 (GRCm39) I288F probably damaging Het
Ppp4c C T 7: 126,386,499 (GRCm39) G166D probably damaging Het
Prss43 A T 9: 110,656,840 (GRCm39) R115S probably damaging Het
Rassf2 T C 2: 131,840,180 (GRCm39) probably null Het
Rdh16f1 T A 10: 127,624,568 (GRCm39) D135E probably benign Het
Rdh16f1 G A 10: 127,624,569 (GRCm39) V136M probably damaging Het
Rgs12 A G 5: 35,189,698 (GRCm39) E702G probably damaging Het
Rnf213 A G 11: 119,370,384 (GRCm39) K4728E probably damaging Het
Ros1 T G 10: 51,996,944 (GRCm39) T1243P probably benign Het
Sbf2 C A 7: 110,088,487 (GRCm39) *45L probably null Het
Serpina3j A T 12: 104,286,086 (GRCm39) I414F probably benign Het
Sh2d3c T C 2: 32,636,108 (GRCm39) Y159H probably damaging Het
Slamf1 A G 1: 171,625,745 (GRCm39) D307G probably null Het
Slc22a13 T C 9: 119,025,143 (GRCm39) T178A probably benign Het
Smchd1 A T 17: 71,736,536 (GRCm39) L588H probably damaging Het
Trim12a G A 7: 103,956,201 (GRCm39) A113V probably benign Het
Vil1 T C 1: 74,466,772 (GRCm39) V654A probably benign Het
Vmn1r202 T C 13: 22,686,070 (GRCm39) T116A possibly damaging Het
Zfp267 T G 3: 36,219,792 (GRCm39) probably null Het
Zfp607a G A 7: 27,578,826 (GRCm39) R632H 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
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
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'- TCTTACACTTGAAGGGCCTCTC -3'
(R):5'- AAGAAACCCAAGTGGCGTCC -3'

Sequencing Primer
(F):5'- CCCAGTGTGTGTCCGGTAG -3'
(R):5'- CAAGTGGCGTCCCTGAGGAAG -3'
Posted On 2015-04-02