Incidental Mutation 'R0166:Spic'
ID 24183
Institutional Source Beutler Lab
Gene Symbol Spic
Ensembl Gene ENSMUSG00000004359
Gene Name Spi-C transcription factor (Spi-1/PU.1 related)
Synonyms Spi-C, C76795, Prf
MMRRC Submission 038442-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.587) question?
Stock # R0166 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 10
Chromosomal Location 88511131-88518885 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88511579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 226 (S226G)
Ref Sequence ENSEMBL: ENSMUSP00000004473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004473] [ENSMUST00000133724] [ENSMUST00000138734]
AlphaFold Q6P3D7
Predicted Effect possibly damaging
Transcript: ENSMUST00000004473
AA Change: S226G

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000004473
Gene: ENSMUSG00000004359
AA Change: S226G

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
Meta Mutation Damage Score 0.1466 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 91% (49/54)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,903,468 (GRCm39) F1040L probably damaging Het
Adamts7 A G 9: 90,075,745 (GRCm39) N1201S probably benign Het
Ahnak C T 19: 8,983,089 (GRCm39) P1458S probably damaging Het
Akap6 T C 12: 53,187,707 (GRCm39) V1707A probably benign Het
Akr1c21 T A 13: 4,631,263 (GRCm39) V266E probably damaging Het
Arap2 A C 5: 62,833,361 (GRCm39) C894G probably damaging Het
Atp2a2 T C 5: 122,604,901 (GRCm39) D426G possibly damaging Het
Azi2 A T 9: 117,884,909 (GRCm39) Q132L possibly damaging Het
Carmil1 C T 13: 24,283,032 (GRCm39) D91N probably damaging Het
Cnot7 A T 8: 40,960,494 (GRCm39) probably null Het
Cntnap5b A G 1: 100,202,086 (GRCm39) E311G probably benign Het
Csmd1 A G 8: 16,283,036 (GRCm39) V640A probably benign Het
Cst7 T C 2: 150,417,647 (GRCm39) S31P probably benign Het
Cyp7b1 T A 3: 18,151,530 (GRCm39) I228L probably benign Het
Ddx28 G A 8: 106,736,921 (GRCm39) T379I probably benign Het
Drd1 T A 13: 54,207,600 (GRCm39) I205F probably damaging Het
Flnb T A 14: 7,896,115 (GRCm38) V837D probably damaging Het
Fsd1l A G 4: 53,647,664 (GRCm39) probably null Het
Fubp1 T A 3: 151,925,841 (GRCm39) Y264* probably null Het
Gbp5 T A 3: 142,212,680 (GRCm39) probably null Het
Gm7094 A G 1: 21,342,958 (GRCm39) noncoding transcript Het
Gpr55 A G 1: 85,868,858 (GRCm39) V241A probably benign Het
Impa1 C T 3: 10,394,020 (GRCm39) A16T probably damaging Het
Llgl2 T C 11: 115,735,680 (GRCm39) L92P probably damaging Het
Ltbp2 T A 12: 84,833,132 (GRCm39) Q1472L probably benign Het
Lyplal1 A T 1: 185,820,943 (GRCm39) M168K probably benign Het
Macc1 A T 12: 119,410,815 (GRCm39) R528* probably null Het
Mdm1 T A 10: 118,002,585 (GRCm39) D635E probably damaging Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mrpl23 C T 7: 142,088,851 (GRCm39) R69W probably damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nr0b2 A G 4: 133,281,049 (GRCm39) Q105R probably damaging Het
Or8b53 T A 9: 38,667,484 (GRCm39) S167T probably benign Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Pcdhb14 A T 18: 37,581,542 (GRCm39) probably null Het
Plxna1 A G 6: 89,310,001 (GRCm39) W1055R probably damaging Het
Pramel22 T A 4: 143,381,081 (GRCm39) H314L probably benign Het
Prdm1 C T 10: 44,316,087 (GRCm39) R716Q probably damaging Het
Proser1 C A 3: 53,388,038 (GRCm39) Q909K possibly damaging Het
Pus10 T A 11: 23,617,358 (GRCm39) C24S probably damaging Het
Rpl27 T A 11: 101,336,146 (GRCm39) F69I possibly damaging Het
Sctr A T 1: 119,983,124 (GRCm39) I325F probably damaging Het
Slc49a4 G A 16: 35,539,684 (GRCm39) T379I possibly damaging Het
Slc5a3 G A 16: 91,874,581 (GRCm39) V213I possibly damaging Het
Spib G T 7: 44,179,324 (GRCm39) D28E probably damaging Het
Tet1 T A 10: 62,676,058 (GRCm39) T673S probably benign Het
Tph1 A G 7: 46,297,020 (GRCm39) F392L probably damaging Het
Ttc28 T C 5: 111,373,500 (GRCm39) S979P probably benign Het
Unc79 T C 12: 103,122,812 (GRCm39) L2110P probably damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Zfp467 T C 6: 48,415,615 (GRCm39) T346A probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GTGTCTGCCGGAATTGTAAGTACCC -3'
(R):5'- GAGCCCTGAGGAATTATGCCAGAAC -3'

Sequencing Primer
(F):5'- TAAACACTGCCTGGAAGGTTCTC -3'
(R):5'- ATTATGCCAGAACTGGGGAG -3'
Posted On 2013-04-16