Incidental Mutation 'IGL02614:Sall4'
ID 300588
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sall4
Ensembl Gene ENSMUSG00000027547
Gene Name spalt like transcription factor 4
Synonyms Tex20, 5730441M18Rik, C330011P20Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02614
Quality Score
Status
Chromosome 2
Chromosomal Location 168590252-168609121 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 168597805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 20 (L20Q)
Ref Sequence ENSEMBL: ENSMUSP00000119628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029061] [ENSMUST00000075044] [ENSMUST00000103074] [ENSMUST00000137536] [ENSMUST00000150588]
AlphaFold Q8BX22
Predicted Effect probably damaging
Transcript: ENSMUST00000029061
AA Change: L345Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029061
Gene: ENSMUSG00000027547
AA Change: L345Q

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: L345Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099363
Gene: ENSMUSG00000027547
AA Change: L345Q

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 null
Transcript: ENSMUST00000150588
AA Change: L20Q

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119628
Gene: ENSMUSG00000027547
AA Change: L20Q

DomainStartEndE-ValueType
ZnF_C2H2 64 86 1.22e-4 SMART
ZnF_C2H2 96 118 1.84e-4 SMART
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,044,215 (GRCm39) probably benign Het
Acadsb A G 7: 131,026,357 (GRCm39) T67A probably benign Het
Aff2 A G X: 68,907,693 (GRCm39) D1225G possibly damaging Het
Atp2a2 T C 5: 122,627,366 (GRCm39) D133G probably benign Het
Cacul1 A T 19: 60,551,661 (GRCm39) M187K possibly damaging Het
Celf4 A G 18: 25,637,207 (GRCm39) Y263H probably damaging Het
Cmbl G T 15: 31,589,830 (GRCm39) V187F probably damaging Het
Epha1 T C 6: 42,337,491 (GRCm39) N896S probably benign Het
Fbxo27 G A 7: 28,396,201 (GRCm39) probably null Het
Galnt16 T C 12: 80,623,337 (GRCm39) S166P probably damaging Het
Gm1110 A G 9: 26,832,010 (GRCm39) V47A probably benign Het
Gmnn A G 13: 24,944,137 (GRCm39) probably benign Het
Gpbp1 T C 13: 111,573,007 (GRCm39) I382V probably benign Het
Gpr87 C A 3: 59,086,738 (GRCm39) V256L probably damaging Het
Il4ra C A 7: 125,174,962 (GRCm39) S390* probably null Het
Itprid1 A T 6: 55,945,262 (GRCm39) D661V probably damaging Het
Lrrc47 T C 4: 154,103,392 (GRCm39) probably null Het
Lrriq4 A T 3: 30,709,788 (GRCm39) L362F probably damaging Het
Lrrtm4 A T 6: 79,998,827 (GRCm39) N79Y probably benign Het
Nr1i2 T A 16: 38,074,118 (GRCm39) H165L probably damaging Het
Or10g1b T C 14: 52,627,627 (GRCm39) E201G probably damaging Het
Phf11a T A 14: 59,516,817 (GRCm39) T214S possibly damaging Het
Prr14l A T 5: 32,987,887 (GRCm39) I536K possibly damaging Het
Rpn1 T A 6: 88,079,087 (GRCm39) I510N probably benign Het
Sema3f T C 9: 107,559,710 (GRCm39) E759G probably benign Het
Slc5a1 T C 5: 33,311,945 (GRCm39) S446P probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tcn2 C A 11: 3,876,158 (GRCm39) S90I possibly damaging Het
Ttn T C 2: 76,542,331 (GRCm39) T31806A possibly damaging Het
Ubr1 T C 2: 120,701,460 (GRCm39) probably benign Het
Vac14 T G 8: 111,361,750 (GRCm39) L214R probably damaging Het
Vmn2r58 T C 7: 41,486,553 (GRCm39) K781E probably damaging Het
Vmn2r92 T C 17: 18,387,503 (GRCm39) probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp609 G A 9: 65,610,072 (GRCm39) P964S probably 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
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
R3785: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
Posted On 2015-04-16