Incidental Mutation 'IGL00815:Spic'
ID 10362
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 # IGL00815
Quality Score
Status
Chromosome 10
Chromosomal Location 88511131-88518885 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88511729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 176 (N176D)
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: N176D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000004473
Gene: ENSMUSG00000004359
AA Change: N176D

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adal A G 2: 120,981,699 (GRCm39) probably benign Het
Arhgap20 A G 9: 51,760,713 (GRCm39) N819D probably benign Het
Cenpe A G 3: 134,965,112 (GRCm39) I2061V probably benign Het
Chrna4 T C 2: 180,671,184 (GRCm39) I191V probably benign Het
Crim1 A G 17: 78,677,520 (GRCm39) E907G probably damaging Het
Cyp2d9 T A 15: 82,340,576 (GRCm39) D175E possibly damaging Het
Eml4 A G 17: 83,758,219 (GRCm39) probably benign Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Fam3c A T 6: 22,318,947 (GRCm39) D151E probably damaging Het
Far1 G A 7: 113,139,896 (GRCm39) V115I probably benign Het
Gfap T C 11: 102,779,516 (GRCm39) D427G possibly damaging Het
Hdac5 A G 11: 102,088,168 (GRCm39) F934S probably damaging Het
Hyou1 A G 9: 44,296,443 (GRCm39) E456G probably benign Het
Kl G A 5: 150,904,315 (GRCm39) E356K possibly damaging Het
Morc1 T C 16: 48,281,055 (GRCm39) I198T possibly damaging Het
Mroh9 C T 1: 162,866,700 (GRCm39) V679M probably damaging Het
Pigr T A 1: 130,762,167 (GRCm39) M1K probably null Het
Pkn3 C A 2: 29,971,212 (GRCm39) P260T possibly damaging Het
Pld5 T G 1: 175,967,585 (GRCm39) D28A probably damaging Het
Plekhg2 G A 7: 28,060,294 (GRCm39) Q1012* probably null Het
Ppp1ca A G 19: 4,243,143 (GRCm39) I104V probably benign Het
Rad21l A G 2: 151,509,909 (GRCm39) V64A probably damaging Het
Rbm20 A G 19: 53,803,948 (GRCm39) D427G probably damaging Het
Rev3l A G 10: 39,735,149 (GRCm39) I2792V possibly damaging Het
Sec23a C T 12: 59,039,068 (GRCm39) C248Y possibly damaging Het
Sf3b1 A T 1: 55,036,090 (GRCm39) probably benign Het
Slc30a1 A G 1: 191,641,191 (GRCm39) N279S probably damaging Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Tlk2 C T 11: 105,137,621 (GRCm39) Q184* probably null Het
Tpm4 T C 8: 72,897,347 (GRCm39) I107T probably benign Het
Ttll11 A T 2: 35,792,732 (GRCm39) C186* probably null Het
Txlnb A T 10: 17,718,711 (GRCm39) H514L probably damaging Het
Zfpm2 T A 15: 40,962,887 (GRCm39) M183K probably benign Het
Other mutations in Spic
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01503:Spic APN 10 88,511,623 (GRCm39) missense probably damaging 0.96
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 2012-12-06