Incidental Mutation 'IGL01503:Spic'
ID 88962
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spic
Ensembl Gene ENSMUSG00000004359
Gene Name Spi-C transcription factor (Spi-1/PU.1 related)
Synonyms Spi-C, C76795, Prf
Accession Numbers
Essential gene? Possibly essential (E-score: 0.587) question?
Stock # IGL01503
Quality Score
Status
Chromosome 10
Chromosomal Location 88511131-88518885 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88511623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 211 (D211V)
Ref Sequence ENSEMBL: ENSMUSP00000004473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004473] [ENSMUST00000133724] [ENSMUST00000138734]
AlphaFold Q6P3D7
Predicted Effect probably damaging
Transcript: ENSMUST00000004473
AA Change: D211V

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000004473
Gene: ENSMUSG00000004359
AA Change: D211V

DomainStartEndE-ValueType
ETS 111 199 6.67e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133724
Predicted Effect probably benign
Transcript: ENSMUST00000138734
SMART Domains Protein: ENSMUSP00000118799
Gene: ENSMUSG00000004359

DomainStartEndE-ValueType
ETS 111 167 1.14e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220161
Coding Region Coverage
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 regulates the development of red pulp macrophages, which are necessary for iron homeostasis and the recycling of red blood cells. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygote null mice have prenatal lethality with incomplete penetrance, absent red pulp macrophages, decreased phagocytosis of senescent red blood cell, and enlargement of spleens with age due to an increase in splenic iron levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T A 16: 88,971,757 (GRCm39) Y26* probably null Het
Aadacl4fm4 T A 4: 144,401,137 (GRCm39) I116F probably damaging Het
Arpc1a T C 5: 145,032,964 (GRCm39) V91A probably damaging Het
Atp2a1 T A 7: 126,047,750 (GRCm39) I687F probably damaging Het
B3gnt5 A C 16: 19,588,531 (GRCm39) Y250S probably damaging Het
Brip1 A G 11: 85,952,703 (GRCm39) V1026A probably benign Het
C1s2 T C 6: 124,602,612 (GRCm39) D527G probably damaging Het
Chrna5 T A 9: 54,905,455 (GRCm39) probably benign Het
Cltc C A 11: 86,586,526 (GRCm39) probably benign Het
Dgkh T G 14: 78,853,710 (GRCm39) I439L possibly damaging Het
Dnajc16 G A 4: 141,491,008 (GRCm39) T714I possibly damaging Het
Fam13a A T 6: 58,933,065 (GRCm39) I349N probably damaging Het
Fig4 C T 10: 41,132,514 (GRCm39) D431N probably benign Het
Gabra4 A T 5: 71,798,429 (GRCm39) N183K possibly damaging Het
Ggt5 C T 10: 75,445,944 (GRCm39) probably benign Het
Hdac6 A G X: 7,798,418 (GRCm39) L798P probably damaging Het
Hectd4 T C 5: 121,456,714 (GRCm39) V2030A probably benign Het
Hecw2 A G 1: 53,866,120 (GRCm39) Y1514H probably damaging Het
Hmcn1 T C 1: 150,480,823 (GRCm39) D4451G probably benign Het
Krtcap3 T C 5: 31,409,167 (GRCm39) probably benign Het
Ltn1 A T 16: 87,217,695 (GRCm39) probably benign Het
Mapkapk2 T C 1: 130,986,499 (GRCm39) M1V probably null Het
Mical3 A T 6: 120,935,537 (GRCm39) I1663N probably benign Het
Mvp G T 7: 126,601,133 (GRCm39) probably benign Het
Myo5c A G 9: 75,170,324 (GRCm39) I485V probably damaging Het
N4bp2 T A 5: 65,960,890 (GRCm39) C520* probably null Het
Nos2 A G 11: 78,836,689 (GRCm39) probably benign Het
Ogdh G A 11: 6,305,069 (GRCm39) V925M probably damaging Het
Pde2a T A 7: 101,151,143 (GRCm39) probably benign Het
Plpp6 A G 19: 28,942,279 (GRCm39) *293W probably null Het
Pole T A 5: 110,451,750 (GRCm39) I864K probably damaging Het
Rexo4 A T 2: 26,850,645 (GRCm39) I239N probably benign Het
Scn1a T A 2: 66,152,687 (GRCm39) I748F probably damaging Het
Sfmbt2 A T 2: 10,584,165 (GRCm39) R841* probably null Het
Sh3bp5l A G 11: 58,228,827 (GRCm39) N100S probably damaging Het
Stab2 A G 10: 86,776,477 (GRCm39) probably benign Het
Tshr A G 12: 91,478,708 (GRCm39) Y83C probably damaging Het
Vsir A G 10: 60,204,373 (GRCm39) E172G probably damaging Het
Wwp2 T C 8: 108,276,413 (GRCm39) S508P probably damaging Het
Other mutations in Spic
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Spic APN 10 88,511,729 (GRCm39) missense probably damaging 1.00
IGL01611:Spic APN 10 88,511,864 (GRCm39) missense possibly damaging 0.69
IGL01792:Spic APN 10 88,515,807 (GRCm39) missense possibly damaging 0.85
R0047:Spic UTSW 10 88,511,803 (GRCm39) missense probably damaging 1.00
R0047:Spic UTSW 10 88,511,803 (GRCm39) missense probably damaging 1.00
R0126:Spic UTSW 10 88,511,924 (GRCm39) missense probably damaging 1.00
R0166:Spic UTSW 10 88,511,579 (GRCm39) missense possibly damaging 0.84
R0585:Spic UTSW 10 88,511,905 (GRCm39) missense probably damaging 1.00
R4066:Spic UTSW 10 88,511,545 (GRCm39) missense possibly damaging 0.63
R4067:Spic UTSW 10 88,511,545 (GRCm39) missense possibly damaging 0.63
R4436:Spic UTSW 10 88,512,817 (GRCm39) missense probably benign 0.03
R4748:Spic UTSW 10 88,511,752 (GRCm39) missense probably damaging 1.00
R5001:Spic UTSW 10 88,511,761 (GRCm39) missense possibly damaging 0.61
R8165:Spic UTSW 10 88,513,428 (GRCm39) missense probably damaging 0.98
R8247:Spic UTSW 10 88,511,923 (GRCm39) missense probably damaging 1.00
R8411:Spic UTSW 10 88,514,498 (GRCm39) missense possibly damaging 0.74
R8681:Spic UTSW 10 88,511,847 (GRCm39) missense possibly damaging 0.89
R9700:Spic UTSW 10 88,515,757 (GRCm39) missense probably benign 0.14
R9777:Spic UTSW 10 88,514,421 (GRCm39) missense possibly damaging 0.59
W0251:Spic UTSW 10 88,515,766 (GRCm39) missense probably damaging 0.97
X0018:Spic UTSW 10 88,514,427 (GRCm39) missense possibly damaging 0.76
Posted On 2013-12-03