Incidental Mutation 'IGL01503:Spic'
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ID88962
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spic
Ensembl Gene ENSMUSG00000004359
Gene NameSpi-C transcription factor (Spi-1/PU.1 related)
SynonymsSpi-C, C76795, Prf
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.465) question?
Stock #IGL01503
Quality Score
Status
Chromosome10
Chromosomal Location88674772-88685015 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 88675761 bp
ZygosityHeterozygous
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]
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: 89,174,869 Y26* probably null Het
Arpc1a T C 5: 145,096,154 V91A probably damaging Het
Atp2a1 T A 7: 126,448,578 I687F probably damaging Het
B3gnt5 A C 16: 19,769,781 Y250S probably damaging Het
Brip1 A G 11: 86,061,877 V1026A probably benign Het
C1s2 T C 6: 124,625,653 D527G probably damaging Het
Chrna5 T A 9: 54,998,171 probably benign Het
Cltc C A 11: 86,695,700 probably benign Het
Dgkh T G 14: 78,616,270 I439L possibly damaging Het
Dnajc16 G A 4: 141,763,697 T714I possibly damaging Het
Fam13a A T 6: 58,956,080 I349N probably damaging Het
Fig4 C T 10: 41,256,518 D431N probably benign Het
Gabra4 A T 5: 71,641,086 N183K possibly damaging Het
Ggt5 C T 10: 75,610,110 probably benign Het
Gm436 T A 4: 144,674,567 I116F probably damaging Het
Hdac6 A G X: 7,932,179 L798P probably damaging Het
Hectd4 T C 5: 121,318,651 V2030A probably benign Het
Hecw2 A G 1: 53,826,961 Y1514H probably damaging Het
Hmcn1 T C 1: 150,605,072 D4451G probably benign Het
Krtcap3 T C 5: 31,251,823 probably benign Het
Ltn1 A T 16: 87,420,807 probably benign Het
Mapkapk2 T C 1: 131,058,762 M1V probably null Het
Mical3 A T 6: 120,958,576 I1663N probably benign Het
Mvp G T 7: 127,001,961 probably benign Het
Myo5c A G 9: 75,263,042 I485V probably damaging Het
N4bp2 T A 5: 65,803,547 C520* probably null Het
Nos2 A G 11: 78,945,863 probably benign Het
Ogdh G A 11: 6,355,069 V925M probably damaging Het
Pde2a T A 7: 101,501,936 probably benign Het
Plpp6 A G 19: 28,964,879 *293W probably null Het
Pole T A 5: 110,303,884 I864K probably damaging Het
Rexo4 A T 2: 26,960,633 I239N probably benign Het
Scn1a T A 2: 66,322,343 I748F probably damaging Het
Sfmbt2 A T 2: 10,579,354 R841* probably null Het
Sh3bp5l A G 11: 58,338,001 N100S probably damaging Het
Stab2 A G 10: 86,940,613 probably benign Het
Tshr A G 12: 91,511,934 Y83C probably damaging Het
Vsir A G 10: 60,368,594 E172G probably damaging Het
Wwp2 T C 8: 107,549,781 S508P probably damaging Het
Other mutations in Spic
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Spic APN 10 88675867 missense probably damaging 1.00
IGL01611:Spic APN 10 88676002 missense possibly damaging 0.69
IGL01792:Spic APN 10 88679945 missense possibly damaging 0.85
R0047:Spic UTSW 10 88675941 missense probably damaging 1.00
R0047:Spic UTSW 10 88675941 missense probably damaging 1.00
R0126:Spic UTSW 10 88676062 missense probably damaging 1.00
R0166:Spic UTSW 10 88675717 missense possibly damaging 0.84
R0585:Spic UTSW 10 88676043 missense probably damaging 1.00
R4066:Spic UTSW 10 88675683 missense possibly damaging 0.63
R4067:Spic UTSW 10 88675683 missense possibly damaging 0.63
R4436:Spic UTSW 10 88676955 missense probably benign 0.03
R4748:Spic UTSW 10 88675890 missense probably damaging 1.00
R5001:Spic UTSW 10 88675899 missense possibly damaging 0.61
R8165:Spic UTSW 10 88677566 missense probably damaging 0.98
R8247:Spic UTSW 10 88676061 missense probably damaging 1.00
R8411:Spic UTSW 10 88678636 missense possibly damaging 0.74
R8681:Spic UTSW 10 88675985 missense possibly damaging 0.89
W0251:Spic UTSW 10 88679904 missense probably damaging 0.97
X0018:Spic UTSW 10 88678565 missense possibly damaging 0.76
Posted On2013-12-03