Incidental Mutation 'R0585:Spic'
ID 55722
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 038775-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.587) question?
Stock # R0585 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 88511131-88518885 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88511905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 117 (Y117C)
Ref Sequence ENSEMBL: ENSMUSP00000118799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004473] [ENSMUST00000133724] [ENSMUST00000138734]
AlphaFold Q6P3D7
Predicted Effect probably damaging
Transcript: ENSMUST00000004473
AA Change: Y117C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004473
Gene: ENSMUSG00000004359
AA Change: Y117C

DomainStartEndE-ValueType
ETS 111 199 6.67e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133724
Predicted Effect probably damaging
Transcript: ENSMUST00000138734
AA Change: Y117C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118799
Gene: ENSMUSG00000004359
AA Change: Y117C

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 0.6351 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.2%
Validation Efficiency 100% (38/38)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brdt T G 5: 107,504,748 (GRCm39) probably null Het
Ccdc162 C T 10: 41,462,375 (GRCm39) C1474Y probably benign Het
Ces2e T C 8: 105,656,453 (GRCm39) S228P probably damaging Het
Clca3a1 G T 3: 144,738,386 (GRCm39) H41N probably benign Het
Cyp2c39 A T 19: 39,525,203 (GRCm39) I169F probably benign Het
Cyp2c65 A G 19: 39,057,686 (GRCm39) K107R probably benign Het
Cyp2c67 T A 19: 39,627,138 (GRCm39) N231Y possibly damaging Het
Eps8l3 G C 3: 107,788,513 (GRCm39) D33H probably damaging Het
Evi5 T C 5: 107,961,402 (GRCm39) probably benign Het
Fcho1 T C 8: 72,168,369 (GRCm39) Y218C probably damaging Het
Gm3993 T A 12: 20,122,149 (GRCm39) probably null Het
Gtf2ird1 A C 5: 134,405,796 (GRCm39) L28R probably damaging Het
Hsf4 A G 8: 105,997,663 (GRCm39) D75G probably damaging Het
Iqca1l A G 5: 24,755,721 (GRCm39) V267A probably benign Het
Larp4b A G 13: 9,197,529 (GRCm39) T249A probably damaging Het
Larp4b A G 13: 9,220,737 (GRCm39) D578G probably benign Het
Lyz3 T A 10: 117,074,356 (GRCm39) I44F possibly damaging Het
Matn3 A T 12: 9,011,103 (GRCm39) probably benign Het
Myo10 T A 15: 25,736,541 (GRCm39) Y428N probably damaging Het
Nf1 T A 11: 79,459,527 (GRCm39) D661E probably damaging Het
Nktr A G 9: 121,583,346 (GRCm39) probably benign Het
Npbwr1 G A 1: 5,986,677 (GRCm39) T279I possibly damaging Het
Or52n3 A C 7: 104,530,706 (GRCm39) H264P probably damaging Het
Osmr T C 15: 6,867,274 (GRCm39) I341V probably benign Het
Pan2 T C 10: 128,146,384 (GRCm39) probably null Het
Pknox2 G A 9: 36,821,056 (GRCm39) probably benign Het
Pla2g2d A C 4: 138,506,704 (GRCm39) D50A probably benign Het
Ptprk C T 10: 28,451,664 (GRCm39) L1051F probably damaging Het
Rap1gds1 G A 3: 138,727,633 (GRCm39) T59M probably benign Het
Rps5 T C 7: 12,659,332 (GRCm39) V41A possibly damaging Het
Ryr1 G T 7: 28,735,501 (GRCm39) D4092E probably damaging Het
Thrap3 A T 4: 126,072,367 (GRCm39) probably null Het
Tlr9 C T 9: 106,102,275 (GRCm39) T522I probably benign Het
Tspan3 A T 9: 56,053,216 (GRCm39) probably benign Het
Ttn T C 2: 76,703,503 (GRCm39) probably benign Het
Zfp773 T A 7: 7,135,574 (GRCm39) I341L probably benign Het
Zmat3 G A 3: 32,415,254 (GRCm39) P19S 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
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
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'- TTGGAGAACAGCCTCGCTGAAC -3'
(R):5'- ATCTTTCAGGCCCGCCAATGAC -3'

Sequencing Primer
(F):5'- TGGCATAATTCCTCAGGGC -3'
(R):5'- GCCAATGACTGTTCTTAAGTCATCG -3'
Posted On 2013-07-11