Incidental Mutation 'R1079:Sall2'
ID 85798
Institutional Source Beutler Lab
Gene Symbol Sall2
Ensembl Gene ENSMUSG00000049532
Gene Name spalt like transcription factor 2
Synonyms Msal-2
MMRRC Submission 039165-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1079 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 52548634-52566127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52550660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 843 (H843L)
Ref Sequence ENSEMBL: ENSMUSP00000154331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058326] [ENSMUST00000135523]
AlphaFold Q9QX96
Predicted Effect probably benign
Transcript: ENSMUST00000058326
AA Change: H845L

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000056401
Gene: ENSMUSG00000049532
AA Change: H845L

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 benign
Transcript: ENSMUST00000135523
AA Change: H843L

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 98% (46/47)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik T C 7: 30,399,209 (GRCm39) M1T probably null Het
Adam25 T C 8: 41,208,513 (GRCm39) V593A possibly damaging Het
Agrn C T 4: 156,261,682 (GRCm39) C536Y probably damaging Het
Amigo3 T C 9: 107,931,051 (GRCm39) M158T probably benign Het
Arsa G A 15: 89,358,428 (GRCm39) probably benign Het
Baz1a T A 12: 54,941,785 (GRCm39) I1474L possibly damaging Het
Cfap144 A G 11: 58,692,620 (GRCm39) Y36H probably benign Het
Cfap65 A G 1: 74,944,872 (GRCm39) V1455A probably damaging Het
Cfap65 G A 1: 74,941,606 (GRCm39) A1776V probably damaging Het
Cnot6 G T 11: 49,575,930 (GRCm39) D176E probably benign Het
Crot A T 5: 9,043,504 (GRCm39) probably null Het
Cryba2 A T 1: 74,929,717 (GRCm39) V140E probably damaging Het
Dennd4b G A 3: 90,178,485 (GRCm39) R516K probably benign Het
Dst C A 1: 34,225,944 (GRCm39) T1697N possibly damaging Het
Eftud2 G T 11: 102,730,870 (GRCm39) Y837* probably null Het
Evpl G T 11: 116,120,894 (GRCm39) T447K possibly damaging Het
Fndc3a A T 14: 72,827,247 (GRCm39) M146K possibly damaging Het
Folh1 G T 7: 86,421,089 (GRCm39) T80K probably damaging Het
Gm4922 T A 10: 18,660,086 (GRCm39) Y212F probably damaging Het
Gtf2i T G 5: 134,271,748 (GRCm39) probably benign Het
Hipk3 A G 2: 104,302,043 (GRCm39) F50L probably benign Het
Ifit1bl2 T A 19: 34,596,885 (GRCm39) T244S probably benign Het
Ikzf2 T C 1: 69,578,264 (GRCm39) D341G possibly damaging Het
Kif3a G C 11: 53,461,408 (GRCm39) V17L possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lzts2 T A 19: 45,011,983 (GRCm39) N137K probably damaging Het
Mphosph8 T A 14: 56,911,716 (GRCm39) D246E probably damaging Het
Myh14 T C 7: 44,279,426 (GRCm39) E918G probably damaging Het
N6amt1 T C 16: 87,153,086 (GRCm39) V52A probably damaging Het
Npr2 A C 4: 43,643,654 (GRCm39) T561P probably damaging Het
Nudt12 G A 17: 59,318,032 (GRCm39) probably benign Het
Or10ad1 A C 15: 98,106,223 (GRCm39) V14G probably damaging Het
Or5w8 A G 2: 87,687,699 (GRCm39) Y60C probably damaging Het
Or6n2 A T 1: 173,897,032 (GRCm39) H56L possibly damaging Het
Or8k22 T A 2: 86,163,185 (GRCm39) R172W probably damaging Het
Pan2 A G 10: 128,154,107 (GRCm39) T1050A probably damaging Het
Rad17 G T 13: 100,770,407 (GRCm39) D213E probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sema3e A T 5: 14,275,669 (GRCm39) N258I probably benign Het
Siglec1 G A 2: 130,921,297 (GRCm39) R625* probably null Het
Slc15a3 T C 19: 10,833,344 (GRCm39) S454P probably benign Het
Sp110 G A 1: 85,516,825 (GRCm39) probably benign Het
Spatc1l T C 10: 76,399,741 (GRCm39) S88P probably damaging Het
Ssh3 A C 19: 4,316,577 (GRCm39) L143R probably damaging Het
Ttn C T 2: 76,587,340 (GRCm39) probably benign Het
Vps35 A G 8: 86,005,683 (GRCm39) L306S probably damaging Het
Zfp729a T C 13: 67,767,794 (GRCm39) I812V possibly 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
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
R4289: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'- GGCTTCCGGTAAGTTCAGCTCTTC -3'
(R):5'- ACATTTCGTGGGTCACAAGACCAG -3'

Sequencing Primer
(F):5'- GTTCAGCTCTTCCACCAAAGG -3'
(R):5'- aggaagaggaagaggatgagg -3'
Posted On 2013-11-18