Incidental Mutation 'R4289:Sall2'
ID 322353
Institutional Source Beutler Lab
Gene Symbol Sall2
Ensembl Gene ENSMUSG00000049532
Gene Name spalt like transcription factor 2
Synonyms Msal-2
MMRRC Submission 041654-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4289 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 52548634-52566127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 52551260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 643 (R643L)
Ref Sequence ENSEMBL: ENSMUSP00000154331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058326] [ENSMUST00000135523]
AlphaFold Q9QX96
Predicted Effect probably damaging
Transcript: ENSMUST00000058326
AA Change: R645L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056401
Gene: ENSMUSG00000049532
AA Change: R645L

DomainStartEndE-ValueType
low complexity region 71 81 N/A INTRINSIC
low complexity region 97 110 N/A INTRINSIC
low complexity region 128 139 N/A INTRINSIC
low complexity region 151 170 N/A INTRINSIC
ZnF_C2H2 372 394 2.57e-3 SMART
ZnF_C2H2 400 422 1.28e-3 SMART
low complexity region 476 501 N/A INTRINSIC
low complexity region 602 627 N/A INTRINSIC
ZnF_C2H2 629 651 1.2e1 SMART
ZnF_C2H2 657 679 1.69e-3 SMART
ZnF_C2H2 689 711 6.88e-4 SMART
low complexity region 719 730 N/A INTRINSIC
low complexity region 747 779 N/A INTRINSIC
low complexity region 799 819 N/A INTRINSIC
low complexity region 829 848 N/A INTRINSIC
ZnF_C2H2 908 930 2.09e-3 SMART
ZnF_C2H2 937 960 1.01e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000135523
AA Change: R643L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.2114 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing multiple zinc finger domains. The encoded protein functions in optical fissure closure during development of the eye in the embryo. Mutations in this gene are associated with ocular coloboma. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in no apparent abnormal phenotypes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a C T 3: 32,766,263 (GRCm39) T39M possibly damaging Het
Arhgdib T C 6: 136,901,156 (GRCm39) N191S probably benign Het
Arhgef39 A G 4: 43,497,353 (GRCm39) probably benign Het
Baz1a G A 12: 54,947,233 (GRCm39) R1139C probably damaging Het
Cdhr5 A T 7: 140,852,752 (GRCm39) I78N probably damaging Het
Cfap97 T A 8: 46,645,698 (GRCm39) N525K probably benign Het
Cntn2 T A 1: 132,455,481 (GRCm39) Y252F probably benign Het
Cyp3a57 G A 5: 145,286,207 (GRCm39) G48S probably damaging Het
Cyp4v3 A C 8: 45,781,260 (GRCm39) F73V possibly damaging Het
Ear10 T C 14: 44,160,404 (GRCm39) D141G probably benign Het
Fbn2 T C 18: 58,168,411 (GRCm39) I2309V probably damaging Het
Fcrl5 A G 3: 87,349,531 (GRCm39) D102G probably benign Het
Fdxacb1 A T 9: 50,683,879 (GRCm39) Q614L probably damaging Het
Gm10267 T C 18: 44,290,331 (GRCm39) T59A probably damaging Het
Gm5581 C T 6: 131,144,519 (GRCm39) noncoding transcript Het
Gm5592 G T 7: 40,808,336 (GRCm39) probably benign Het
Gtf2a1l A G 17: 89,001,884 (GRCm39) T200A probably damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Ift122 T C 6: 115,900,852 (GRCm39) C1057R probably damaging Het
Kirrel3 A T 9: 34,934,769 (GRCm39) N73I probably benign Het
Kndc1 A G 7: 139,490,798 (GRCm39) I433M probably benign Het
Mks1 T C 11: 87,747,530 (GRCm39) probably benign Het
Mmp14 A T 14: 54,673,665 (GRCm39) K110* probably null Het
Mms19 A G 19: 41,933,992 (GRCm39) L938P probably damaging Het
Mrpl36 A T 13: 73,479,777 (GRCm39) probably null Het
Mypn T C 10: 62,966,961 (GRCm39) E905G probably damaging Het
Ncam1 G T 9: 49,468,472 (GRCm39) T329N probably damaging Het
Nfkbie T C 17: 45,869,516 (GRCm39) L157P probably damaging Het
Or14c45 T A 7: 86,176,262 (GRCm39) I99N probably damaging Het
Or4f47 T A 2: 111,972,319 (GRCm39) S10T probably benign Het
Pappa C T 4: 65,074,100 (GRCm39) A218V probably benign Het
Plekhg5 T C 4: 152,196,884 (GRCm39) Y737H probably benign Het
Plod2 G A 9: 92,485,041 (GRCm39) R514Q possibly damaging Het
Plxnb1 C T 9: 108,943,420 (GRCm39) R1888W probably damaging Het
Prss45 A G 9: 110,669,997 (GRCm39) T269A probably benign Het
Ptpn13 A G 5: 103,681,151 (GRCm39) T784A probably damaging Het
Pycr3 T C 15: 75,790,655 (GRCm39) N68S probably benign Het
Rbis T C 3: 14,674,714 (GRCm39) M1V probably null Het
Rdh14 A T 12: 10,444,949 (GRCm39) N267Y probably benign Het
Rph3a G A 5: 121,111,368 (GRCm39) R71C probably damaging Het
Spata13 T A 14: 60,928,523 (GRCm39) V27E probably damaging Het
Tbc1d1 T A 5: 64,417,771 (GRCm39) S312T probably damaging Het
Tcp11l2 T C 10: 84,440,937 (GRCm39) probably null Het
Trdn C T 10: 33,340,578 (GRCm39) S604L probably benign Het
Ttn T C 2: 76,640,742 (GRCm39) T13669A probably benign Het
Tyw3 A T 3: 154,302,645 (GRCm39) F30I probably damaging Het
Vmn1r227 G T 17: 20,956,092 (GRCm39) noncoding transcript Het
Vmn2r74 C T 7: 85,606,562 (GRCm39) M261I probably benign Het
Zfp217 C T 2: 169,956,707 (GRCm39) G764S probably benign Het
Zfp267 A G 3: 36,213,747 (GRCm39) N27S possibly damaging Het
Zfp748 T A 13: 67,689,202 (GRCm39) H686L probably damaging Het
Other mutations in Sall2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01587:Sall2 APN 14 52,552,028 (GRCm39) missense probably damaging 1.00
IGL02152:Sall2 APN 14 52,552,971 (GRCm39) missense probably damaging 1.00
IGL02318:Sall2 APN 14 52,553,022 (GRCm39) missense probably damaging 1.00
IGL02933:Sall2 APN 14 52,550,484 (GRCm39) missense probably benign 0.00
IGL03165:Sall2 APN 14 52,551,625 (GRCm39) missense probably damaging 1.00
R1079:Sall2 UTSW 14 52,550,660 (GRCm39) missense probably benign 0.13
R1295:Sall2 UTSW 14 52,551,182 (GRCm39) missense probably damaging 1.00
R1674:Sall2 UTSW 14 52,551,293 (GRCm39) missense probably damaging 1.00
R1840:Sall2 UTSW 14 52,551,182 (GRCm39) missense probably damaging 1.00
R1989:Sall2 UTSW 14 52,551,896 (GRCm39) missense probably damaging 1.00
R2339:Sall2 UTSW 14 52,550,813 (GRCm39) missense probably damaging 1.00
R3407:Sall2 UTSW 14 52,565,561 (GRCm39) missense probably benign 0.03
R3870:Sall2 UTSW 14 52,551,451 (GRCm39) missense probably damaging 1.00
R3895:Sall2 UTSW 14 52,551,504 (GRCm39) missense probably damaging 0.99
R4059:Sall2 UTSW 14 52,552,028 (GRCm39) missense probably damaging 1.00
R4272:Sall2 UTSW 14 52,551,260 (GRCm39) missense probably damaging 1.00
R4273:Sall2 UTSW 14 52,551,260 (GRCm39) missense probably damaging 1.00
R4275:Sall2 UTSW 14 52,551,260 (GRCm39) missense probably damaging 1.00
R4503:Sall2 UTSW 14 52,550,916 (GRCm39) missense probably benign
R4592:Sall2 UTSW 14 52,551,260 (GRCm39) missense probably damaging 1.00
R4611:Sall2 UTSW 14 52,551,210 (GRCm39) missense probably damaging 1.00
R4615:Sall2 UTSW 14 52,550,207 (GRCm39) missense probably benign 0.20
R4640:Sall2 UTSW 14 52,552,616 (GRCm39) missense probably damaging 0.99
R4693:Sall2 UTSW 14 52,551,935 (GRCm39) missense probably damaging 1.00
R4921:Sall2 UTSW 14 52,552,850 (GRCm39) missense possibly damaging 0.93
R5007:Sall2 UTSW 14 52,551,950 (GRCm39) missense probably damaging 1.00
R5015:Sall2 UTSW 14 52,553,112 (GRCm39) missense possibly damaging 0.92
R5079:Sall2 UTSW 14 52,552,211 (GRCm39) missense probably damaging 1.00
R5419:Sall2 UTSW 14 52,550,586 (GRCm39) missense probably damaging 1.00
R5849:Sall2 UTSW 14 52,551,704 (GRCm39) missense probably benign 0.13
R6229:Sall2 UTSW 14 52,550,648 (GRCm39) missense probably benign
R6397:Sall2 UTSW 14 52,552,610 (GRCm39) missense probably damaging 1.00
R6422:Sall2 UTSW 14 52,550,181 (GRCm39) makesense probably null
R6456:Sall2 UTSW 14 52,551,051 (GRCm39) nonsense probably null
R6456:Sall2 UTSW 14 52,551,050 (GRCm39) missense probably damaging 1.00
R6786:Sall2 UTSW 14 52,552,078 (GRCm39) missense probably damaging 1.00
R7293:Sall2 UTSW 14 52,551,868 (GRCm39) nonsense probably null
R7496:Sall2 UTSW 14 52,553,018 (GRCm39) missense possibly damaging 0.63
R7792:Sall2 UTSW 14 52,553,521 (GRCm39) missense probably damaging 1.00
R8324:Sall2 UTSW 14 52,550,343 (GRCm39) missense probably benign 0.30
R9017:Sall2 UTSW 14 52,550,719 (GRCm39) missense possibly damaging 0.51
R9149:Sall2 UTSW 14 52,550,673 (GRCm39) missense possibly damaging 0.95
R9362:Sall2 UTSW 14 52,550,601 (GRCm39) nonsense probably null
R9571:Sall2 UTSW 14 52,551,830 (GRCm39) missense probably damaging 1.00
R9574:Sall2 UTSW 14 52,551,617 (GRCm39) missense probably damaging 1.00
R9641:Sall2 UTSW 14 52,550,882 (GRCm39) missense probably damaging 1.00
R9648:Sall2 UTSW 14 52,551,224 (GRCm39) missense probably damaging 1.00
R9694:Sall2 UTSW 14 52,552,124 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- AACATGTTGCTGCAGAGTGAC -3'
(R):5'- TTATGTGCTAGAACCCTTGGG -3'

Sequencing Primer
(F):5'- CAGAGTGACAGCATTAGTGAACTTC -3'
(R):5'- GCCTTCTGAGACCTCAAAGCTG -3'
Posted On 2015-06-20