Incidental Mutation 'R4066:Spic'
ID 316120
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 040973-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.587) question?
Stock # R4066 (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 88511545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 237 (H237R)
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: H237R

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000004473
Gene: ENSMUSG00000004359
AA Change: H237R

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 96% (50/52)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 A T 1: 63,602,584 (GRCm39) H582L probably damaging Het
Ankrd13d C T 19: 4,320,388 (GRCm39) A118T probably benign Het
Arhgap30 C T 1: 171,235,891 (GRCm39) T755I probably benign Het
Cab39l A G 14: 59,784,454 (GRCm39) H285R probably benign Het
Dpyd AAT AATGTATATATAT 3: 118,690,738 (GRCm39) probably benign Het
Dspp T A 5: 104,325,060 (GRCm39) N474K unknown Het
Fanci T C 7: 79,062,505 (GRCm39) probably null Het
Fras1 T A 5: 96,918,542 (GRCm39) I3526K possibly damaging Het
Fut8 T A 12: 77,510,835 (GRCm39) Y421N probably damaging Het
Gm12258 C T 11: 58,749,352 (GRCm39) L176F probably benign Het
Gm8220 A T 14: 44,523,095 (GRCm39) R12* probably null Het
Hecw1 T C 13: 14,491,016 (GRCm39) S659G probably damaging Het
Hnrnpr C A 4: 136,066,657 (GRCm39) probably benign Het
Htt C T 5: 35,036,191 (GRCm39) T2046I probably benign Het
Kat7 T C 11: 95,174,967 (GRCm39) D259G possibly damaging Het
Klra9 T C 6: 130,165,707 (GRCm39) T103A probably benign Het
Lad1 A G 1: 135,755,165 (GRCm39) E147G probably damaging Het
Lipo2 T C 19: 33,698,259 (GRCm39) I373V probably benign Het
Ltb4r1 G T 14: 56,004,952 (GRCm39) W85L probably damaging Het
Ltn1 T C 16: 87,213,118 (GRCm39) Y481C possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Muc4 A T 16: 32,569,869 (GRCm39) I310F possibly damaging Het
Myl10 A G 5: 136,724,304 (GRCm39) K70E probably damaging Het
Nptx2 G T 5: 144,493,122 (GRCm39) W403L probably damaging Het
Nyap2 A G 1: 81,219,550 (GRCm39) Y524C probably damaging Het
Or4a72 T A 2: 89,405,523 (GRCm39) L182F probably damaging Het
Or6b2b A G 1: 92,418,911 (GRCm39) C189R probably damaging Het
Or8b1 T A 9: 38,399,778 (GRCm39) M151K probably benign Het
Pde9a A G 17: 31,662,812 (GRCm39) *64W probably null Het
Ppp2r5b T C 19: 6,279,360 (GRCm39) Y379C probably damaging Het
Rd3l T G 12: 111,945,945 (GRCm39) N178T probably benign Het
Recql4 A G 15: 76,590,027 (GRCm39) Y673H probably damaging Het
Rnps1-ps T A 6: 7,983,009 (GRCm39) noncoding transcript Het
Shcbp1 A G 8: 4,798,716 (GRCm39) I401T probably damaging Het
Shd A T 17: 56,278,581 (GRCm39) D48V probably damaging Het
Slc14a1 A G 18: 78,154,592 (GRCm39) W209R probably damaging Het
Slc2a9 T C 5: 38,640,692 (GRCm39) K6E probably benign Het
Slco6d1 A G 1: 98,391,571 (GRCm39) probably benign Het
Stau2 A G 1: 16,464,283 (GRCm39) S156P possibly damaging Het
Stmn2 T C 3: 8,574,668 (GRCm39) probably benign Het
Togaram2 C A 17: 72,023,233 (GRCm39) probably benign Het
Trpc5 T A X: 143,202,594 (GRCm39) R545* probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Wdfy3 C T 5: 102,070,313 (GRCm39) V1152I probably benign Het
Xpo4 G T 14: 57,825,511 (GRCm39) H939N 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
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'- ACCAATATGTAAACACTGCCTGG -3'
(R):5'- CAGAGCCCTGAGGAATTATGCC -3'

Sequencing Primer
(F):5'- GTAAACACTGCCTGGAAGGTTCTC -3'
(R):5'- CCCTGAGGAATTATGCCAGAACTG -3'
Posted On 2015-05-15