Incidental Mutation 'IGL01792:Spic'
ID 155255
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 # IGL01792
Quality Score
Status
Chromosome 10
Chromosomal Location 88511131-88518885 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88515807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 5 (I5T)
Ref Sequence ENSEMBL: ENSMUSP00000114328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004473] [ENSMUST00000133724] [ENSMUST00000138734]
AlphaFold Q6P3D7
Predicted Effect probably benign
Transcript: ENSMUST00000004473
AA Change: I5T

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000004473
Gene: ENSMUSG00000004359
AA Change: I5T

DomainStartEndE-ValueType
ETS 111 199 6.67e-32 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000133724
AA Change: I5T

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000138734
AA Change: I5T

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000118799
Gene: ENSMUSG00000004359
AA Change: I5T

DomainStartEndE-ValueType
ETS 111 167 1.14e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144338
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik G T 17: 48,452,680 (GRCm39) F86L probably damaging Het
A2ml1 T C 6: 128,537,642 (GRCm39) T690A probably benign Het
Adam3 T C 8: 25,187,219 (GRCm39) N424S probably benign Het
Adarb2 T C 13: 8,620,185 (GRCm39) F224L probably damaging Het
Clcn3 T C 8: 61,382,356 (GRCm39) T438A probably damaging Het
Cyp2c55 A G 19: 39,030,631 (GRCm39) I488V probably benign Het
Dennd1a A G 2: 38,016,592 (GRCm39) F84S probably damaging Het
Dennd4b A G 3: 90,187,152 (GRCm39) R1475G probably damaging Het
Ift172 G A 5: 31,434,215 (GRCm39) R508W probably damaging Het
Khdrbs2 C T 1: 32,696,548 (GRCm39) R326C probably damaging Het
Krt78 T G 15: 101,855,085 (GRCm39) M909L probably benign Het
Ncapg2 T A 12: 116,389,438 (GRCm39) F353I probably damaging Het
Or10d4c A T 9: 39,558,955 (GRCm39) N311I probably benign Het
Pigb A T 9: 72,925,268 (GRCm39) H396Q probably damaging Het
Rev3l C T 10: 39,699,336 (GRCm39) P1278S probably benign Het
Setd1b T A 5: 123,295,209 (GRCm39) V955D unknown Het
Slc22a16 T A 10: 40,449,928 (GRCm39) H121Q possibly damaging Het
Slc22a29 A T 19: 8,195,893 (GRCm39) C49S probably damaging Het
Smad1 T C 8: 80,098,752 (GRCm39) K21E probably damaging Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Srpk1 G A 17: 28,818,441 (GRCm39) probably benign Het
Tubgcp6 T C 15: 88,985,484 (GRCm39) D1559G probably damaging Het
Unc13b T C 4: 43,250,218 (GRCm39) F992L probably damaging Het
Other mutations in Spic
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Spic APN 10 88,511,729 (GRCm39) missense probably damaging 1.00
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
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 2014-02-04