Incidental Mutation 'R3785:Sall4'
ID 272205
Institutional Source Beutler Lab
Gene Symbol Sall4
Ensembl Gene ENSMUSG00000027547
Gene Name spalt like transcription factor 4
Synonyms Tex20, 5730441M18Rik, C330011P20Rik
MMRRC Submission 040752-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3785 (G1)
Quality Score 184
Status Validated
Chromosome 2
Chromosomal Location 168590252-168609121 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 168598043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 266 (S266P)
Ref Sequence ENSEMBL: ENSMUSP00000099363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029061] [ENSMUST00000075044] [ENSMUST00000103074] [ENSMUST00000137536] [ENSMUST00000150588]
AlphaFold Q8BX22
Predicted Effect probably damaging
Transcript: ENSMUST00000029061
AA Change: S266P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029061
Gene: ENSMUSG00000027547
AA Change: S266P

DomainStartEndE-ValueType
low complexity region 15 24 N/A INTRINSIC
low complexity region 25 42 N/A INTRINSIC
ZnF_C2H2 68 88 1.31e2 SMART
low complexity region 193 203 N/A INTRINSIC
low complexity region 210 230 N/A INTRINSIC
low complexity region 254 278 N/A INTRINSIC
low complexity region 295 313 N/A INTRINSIC
ZnF_C2H2 387 409 1.04e-3 SMART
ZnF_C2H2 415 437 2.15e-5 SMART
ZnF_C2H2 573 595 5.34e0 SMART
ZnF_C2H2 601 623 1.22e-4 SMART
ZnF_C2H2 633 655 1.84e-4 SMART
low complexity region 855 867 N/A INTRINSIC
ZnF_C2H2 880 902 2.53e-2 SMART
ZnF_C2H2 908 930 1.13e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000075044
SMART Domains Protein: ENSMUSP00000074556
Gene: ENSMUSG00000027547

DomainStartEndE-ValueType
low complexity region 15 24 N/A INTRINSIC
low complexity region 30 38 N/A INTRINSIC
low complexity region 66 78 N/A INTRINSIC
ZnF_C2H2 91 113 2.53e-2 SMART
ZnF_C2H2 119 141 1.13e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103074
AA Change: S266P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099363
Gene: ENSMUSG00000027547
AA Change: S266P

DomainStartEndE-ValueType
low complexity region 15 24 N/A INTRINSIC
low complexity region 25 42 N/A INTRINSIC
ZnF_C2H2 68 88 1.31e2 SMART
low complexity region 193 203 N/A INTRINSIC
low complexity region 210 230 N/A INTRINSIC
low complexity region 254 278 N/A INTRINSIC
low complexity region 295 313 N/A INTRINSIC
low complexity region 411 423 N/A INTRINSIC
ZnF_C2H2 436 458 2.53e-2 SMART
ZnF_C2H2 464 486 1.13e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125138
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130640
Predicted Effect probably benign
Transcript: ENSMUST00000137536
SMART Domains Protein: ENSMUSP00000115646
Gene: ENSMUSG00000027547

DomainStartEndE-ValueType
Blast:ZnF_C2H2 37 61 6e-9 BLAST
low complexity region 162 172 N/A INTRINSIC
low complexity region 179 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150588
SMART Domains Protein: ENSMUSP00000119628
Gene: ENSMUSG00000027547

DomainStartEndE-ValueType
ZnF_C2H2 64 86 1.22e-4 SMART
ZnF_C2H2 96 118 1.84e-4 SMART
Meta Mutation Damage Score 0.1228 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 95% (38/40)
MGI Phenotype FUNCTION: This gene belongs to the spalt family of zinc finger transcription factors. In mouse, functions for this gene have been described in many embryonic developmental processes, including brain, heart, and limb development. In addition, this gene is an important pluripotency factor that is required for stem cell maintenance. Homozygous mutant mice display embryonic lethality, while conditional knock-out in embryonic germ cells results in failure to establish a robust stem cell population. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutation of this gene results in early embryonic lethality before somite formation. Heterozygous mutation of this locus causes variable phenotypes, from heart and digit defects to deafness, anogenital tract defects, cranial and carpal bone defects and renal agenesis or hypoplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
A2ml1 C T 6: 128,521,887 (GRCm39) probably null Het
Aak1 T C 6: 86,942,560 (GRCm39) F701S unknown Het
Arid2 T A 15: 96,270,439 (GRCm39) D1517E possibly damaging Het
Cyp2r1 C T 7: 114,153,931 (GRCm39) V88I possibly damaging Het
Dennd3 T C 15: 73,419,426 (GRCm39) V739A possibly damaging Het
Dnah11 G T 12: 117,981,337 (GRCm39) Q2610K probably damaging Het
Gm5698 T C 1: 31,016,560 (GRCm39) T164A probably benign Het
Gpt2 G T 8: 86,252,202 (GRCm39) V506L probably benign Het
Gpx6 A G 13: 21,497,956 (GRCm39) T76A probably benign Het
Htra3 A T 5: 35,828,472 (GRCm39) L136H probably benign Het
Ifitm10 G A 7: 141,882,335 (GRCm39) T145I possibly damaging Het
Inpp5k T C 11: 75,538,512 (GRCm39) L461P probably damaging Het
Kcnd3 C A 3: 105,575,541 (GRCm39) T555K possibly damaging Het
Kif13b C T 14: 65,037,849 (GRCm39) T1505I probably benign Het
Mcf2l G T 8: 12,930,099 (GRCm39) G40C probably damaging Het
Mettl3 A T 14: 52,537,363 (GRCm39) I102N probably benign Het
Muc5b C T 7: 141,418,853 (GRCm39) T3933I possibly damaging Het
Mus81 G A 19: 5,535,389 (GRCm39) probably benign Het
Myo15a A T 11: 60,368,398 (GRCm39) Y386F probably damaging Het
Mypn C A 10: 63,028,961 (GRCm39) R34L probably benign Het
Neurod1 T A 2: 79,284,939 (GRCm39) N148I probably damaging Het
Or4f56 T C 2: 111,703,831 (GRCm39) Y123C probably damaging Het
Or8g32 T C 9: 39,305,678 (GRCm39) V197A probably benign Het
Or9g3 G A 2: 85,589,797 (GRCm39) P308S probably benign Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rnf5 A G 17: 34,820,906 (GRCm39) probably null Het
Sacs C A 14: 61,421,410 (GRCm39) Q116K probably damaging Het
Senp6 T G 9: 79,999,568 (GRCm39) I74S probably benign Het
Slc13a4 T A 6: 35,264,827 (GRCm39) T131S probably damaging Het
Slc9a4 C A 1: 40,623,130 (GRCm39) P123Q probably damaging Het
Stxbp4 T A 11: 90,426,441 (GRCm39) probably null Het
Swt1 T C 1: 151,255,155 (GRCm39) D814G probably benign Het
Synrg T C 11: 83,892,746 (GRCm39) F613S probably damaging Het
Tekt1 A G 11: 72,235,720 (GRCm39) I376T probably damaging Het
Ttbk2 A T 2: 120,604,296 (GRCm39) probably benign Het
Txnl4b C T 8: 110,299,409 (GRCm39) A123V probably damaging Het
Wap G A 11: 6,588,550 (GRCm39) Q25* probably null Het
Zfp26 A T 9: 20,349,098 (GRCm39) C489S probably damaging Het
Zfp804b G A 5: 6,820,153 (GRCm39) T934M possibly damaging Het
Other mutations in Sall4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Sall4 APN 2 168,597,232 (GRCm39) missense probably benign 0.02
IGL00592:Sall4 APN 2 168,597,883 (GRCm39) missense probably damaging 1.00
IGL00674:Sall4 APN 2 168,597,700 (GRCm39) missense probably damaging 0.99
IGL01308:Sall4 APN 2 168,592,164 (GRCm39) missense probably damaging 0.99
IGL01538:Sall4 APN 2 168,597,776 (GRCm39) missense probably damaging 1.00
IGL01552:Sall4 APN 2 168,598,043 (GRCm39) missense probably damaging 1.00
IGL02614:Sall4 APN 2 168,597,805 (GRCm39) missense probably null 0.79
R0514:Sall4 UTSW 2 168,597,625 (GRCm39) missense probably damaging 1.00
R0531:Sall4 UTSW 2 168,598,256 (GRCm39) missense probably benign 0.10
R0747:Sall4 UTSW 2 168,596,886 (GRCm39) missense probably damaging 1.00
R1371:Sall4 UTSW 2 168,598,394 (GRCm39) missense probably benign 0.10
R1736:Sall4 UTSW 2 168,594,555 (GRCm39) missense probably benign 0.10
R2067:Sall4 UTSW 2 168,598,465 (GRCm39) missense probably benign 0.00
R3766:Sall4 UTSW 2 168,597,964 (GRCm39) missense possibly damaging 0.93
R3783:Sall4 UTSW 2 168,598,043 (GRCm39) missense probably damaging 1.00
R3784:Sall4 UTSW 2 168,598,043 (GRCm39) missense probably damaging 1.00
R3787:Sall4 UTSW 2 168,598,043 (GRCm39) missense probably damaging 1.00
R3877:Sall4 UTSW 2 168,598,162 (GRCm39) missense probably damaging 1.00
R4356:Sall4 UTSW 2 168,597,400 (GRCm39) missense probably benign 0.37
R4358:Sall4 UTSW 2 168,597,400 (GRCm39) missense probably benign 0.37
R4760:Sall4 UTSW 2 168,592,347 (GRCm39) missense probably damaging 0.98
R4869:Sall4 UTSW 2 168,597,637 (GRCm39) missense probably damaging 1.00
R5979:Sall4 UTSW 2 168,592,263 (GRCm39) missense probably benign 0.28
R6089:Sall4 UTSW 2 168,597,406 (GRCm39) missense possibly damaging 0.92
R6502:Sall4 UTSW 2 168,597,628 (GRCm39) missense probably damaging 1.00
R6990:Sall4 UTSW 2 168,596,990 (GRCm39) missense probably damaging 1.00
R7999:Sall4 UTSW 2 168,594,561 (GRCm39) missense probably damaging 0.99
R8436:Sall4 UTSW 2 168,597,830 (GRCm39) missense probably damaging 1.00
R9069:Sall4 UTSW 2 168,596,773 (GRCm39) missense probably benign 0.00
R9375:Sall4 UTSW 2 168,597,781 (GRCm39) missense probably damaging 0.99
R9630:Sall4 UTSW 2 168,596,408 (GRCm39) missense probably benign
R9720:Sall4 UTSW 2 168,592,160 (GRCm39) missense probably damaging 1.00
Z1177:Sall4 UTSW 2 168,594,495 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTTCTTGGACTGGTCGAGC -3'
(R):5'- ACACCAATGTGACTCTGCAG -3'

Sequencing Primer
(F):5'- TTGGACTGGTCGAGCGTCAC -3'
(R):5'- CAAGGTGGCCGTGAACCAAC -3'
Posted On 2015-03-25