Incidental Mutation 'R8247:Spic'
ID 640720
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 067674-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.587) question?
Stock # R8247 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 88511131-88518885 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88511923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 111 (K111R)
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: K111R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000004473
Gene: ENSMUSG00000004359
AA Change: K111R

DomainStartEndE-ValueType
ETS 111 199 6.67e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133724
Predicted Effect probably damaging
Transcript: ENSMUST00000138734
AA Change: K111R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118799
Gene: ENSMUSG00000004359
AA Change: K111R

DomainStartEndE-ValueType
ETS 111 167 1.14e-5 SMART
Meta Mutation Damage Score 0.1275 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (69/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik T C 6: 52,155,942 (GRCm39) S3P unknown Het
Abca15 A T 7: 119,936,445 (GRCm39) Y170F possibly damaging Het
Alpl C T 4: 137,473,764 (GRCm39) V313M probably damaging Het
Ankrd44 T C 1: 54,792,102 (GRCm39) H311R probably damaging Het
Atm A T 9: 53,361,870 (GRCm39) L2749Q Het
Bicd2 C T 13: 49,533,462 (GRCm39) R683W probably damaging Het
Brat1 C A 5: 140,698,893 (GRCm39) P342T possibly damaging Het
Camta1 T A 4: 151,159,721 (GRCm39) T482S probably damaging Het
Carhsp1 A G 16: 8,481,535 (GRCm39) V67A probably damaging Het
Carmil1 T A 13: 24,282,998 (GRCm39) N512I probably damaging Het
Ccdc126 C T 6: 49,316,775 (GRCm39) T85M probably damaging Het
Cd274 C T 19: 29,362,795 (GRCm39) Q286* probably null Het
Cep192 T A 18: 67,974,188 (GRCm39) I1097N probably benign Het
Cimip4 A C 15: 78,262,992 (GRCm39) S221A probably benign Het
Clvs1 A T 4: 9,281,885 (GRCm39) N110Y possibly damaging Het
Cntln A G 4: 85,019,017 (GRCm39) T102A probably benign Het
Cp A C 3: 20,020,570 (GRCm39) I188L possibly damaging Het
Crh A G 3: 19,748,291 (GRCm39) L117P probably benign Het
Dcaf1 A T 9: 106,731,427 (GRCm39) I635F possibly damaging Het
Dennd2c A G 3: 103,059,637 (GRCm39) D521G probably damaging Het
E2f2 C T 4: 135,900,126 (GRCm39) T12M possibly damaging Het
Eid2 G A 7: 27,967,972 (GRCm39) R198H probably damaging Het
Exosc4 G T 15: 76,213,279 (GRCm39) C74F probably damaging Het
Fanca A T 8: 124,010,694 (GRCm39) probably benign Het
Ganc A T 2: 120,267,181 (GRCm39) Q499L probably null Het
Gfy T C 7: 44,827,710 (GRCm39) T129A possibly damaging Het
Gli3 G T 13: 15,901,360 (GRCm39) M1582I possibly damaging Het
Gm4744 A G 6: 40,926,402 (GRCm39) S63P Het
Htr2b T C 1: 86,027,817 (GRCm39) T230A probably benign Het
Iqcb1 T A 16: 36,678,836 (GRCm39) N383K probably benign Het
Lpcat1 A T 13: 73,662,071 (GRCm39) I471F probably damaging Het
Lrch3 T G 16: 32,829,713 (GRCm39) L781* probably null Het
Lrif1 T A 3: 106,641,692 (GRCm39) S3T probably damaging Het
Lrp2 T A 2: 69,261,431 (GRCm39) R4503S possibly damaging Het
Lrrc8c T C 5: 105,756,310 (GRCm39) I695T probably damaging Het
Mak G A 13: 41,193,146 (GRCm39) T473M possibly damaging Het
Map2k5 A T 9: 63,279,019 (GRCm39) Y62N probably damaging Het
Mbd3l2 T C 9: 18,356,299 (GRCm39) L208P probably damaging Het
Myo18b T C 5: 112,840,062 (GRCm39) E2577G probably damaging Het
Nfia A T 4: 97,953,644 (GRCm39) T461S probably benign Het
Oaz3 A G 3: 94,343,741 (GRCm39) Y41H probably damaging Het
Or10ab5 T A 7: 108,245,370 (GRCm39) I138F probably damaging Het
Or1p1 C A 11: 74,180,315 (GRCm39) T281K noncoding transcript Het
Or2ad1 A G 13: 21,326,295 (GRCm39) S311P probably benign Het
Or51m1 T C 7: 103,578,783 (GRCm39) V251A possibly damaging Het
Pin1rt1 T C 2: 104,544,892 (GRCm39) E80G probably damaging Het
Pmpcb T C 5: 21,961,852 (GRCm39) Y457H probably damaging Het
Polr2b T C 5: 77,468,062 (GRCm39) S121P possibly damaging Het
Ppm1e C T 11: 87,122,101 (GRCm39) G619R probably benign Het
Pramel5 T A 4: 143,999,395 (GRCm39) M231L probably damaging Het
Prex2 G T 1: 11,270,194 (GRCm39) C1293F probably benign Het
Psg20 A G 7: 18,416,562 (GRCm39) F185L probably benign Het
Psg28 A G 7: 18,156,864 (GRCm39) V457A probably benign Het
Pxmp2 A G 5: 110,422,445 (GRCm39) L188P probably damaging Het
Scd3 A T 19: 44,227,003 (GRCm39) N279I possibly damaging Het
Scg2 T G 1: 79,414,236 (GRCm39) K162N possibly damaging Het
Sipa1l2 T C 8: 126,149,372 (GRCm39) E1629G probably benign Het
Slc27a2 T A 2: 126,395,515 (GRCm39) F147L probably benign Het
Smco1 T C 16: 32,092,557 (GRCm39) V76A probably benign Het
Spidr A G 16: 15,786,390 (GRCm39) probably null Het
Sptbn1 T A 11: 30,063,906 (GRCm39) I1971F possibly damaging Het
Stard8 C T X: 98,109,570 (GRCm39) S155L probably benign Het
Tiam1 G A 16: 89,695,037 (GRCm39) T140M probably benign Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Ufl1 T C 4: 25,250,606 (GRCm39) E749G probably benign Het
Vmn1r168 G T 7: 23,240,487 (GRCm39) V115F possibly damaging Het
Wars2 G A 3: 99,094,965 (GRCm39) V87I probably benign Het
Zdhhc14 T A 17: 5,736,031 (GRCm39) C170S probably damaging Het
Zfp113 C T 5: 138,143,296 (GRCm39) C318Y possibly damaging Het
Zfp367 A G 13: 64,300,482 (GRCm39) S108P 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
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
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'- ATGATCTCCCCAGTTCTGGC -3'
(R):5'- AAACTATAAGAGGCCCATGGATC -3'

Sequencing Primer
(F):5'- TGGCATAATTCCTCAGGGC -3'
(R):5'- TAAGAGGCCCATGGATCTTTCAG -3'
Posted On 2020-07-28