Incidental Mutation 'R9700:Spic'
ID 729525
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.587) question?
Stock # R9700 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 88511131-88518885 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88515757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 22 (I22F)
Ref Sequence ENSEMBL: ENSMUSP00000004473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004473] [ENSMUST00000133724] [ENSMUST00000138734]
AlphaFold Q6P3D7
Predicted Effect probably benign
Transcript: ENSMUST00000004473
AA Change: I22F

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000004473
Gene: ENSMUSG00000004359
AA Change: I22F

DomainStartEndE-ValueType
ETS 111 199 6.67e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133724
AA Change: I22F

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000138734
AA Change: I22F

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000118799
Gene: ENSMUSG00000004359
AA Change: I22F

DomainStartEndE-ValueType
ETS 111 167 1.14e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 C T 15: 11,311,442 (GRCm39) S1233F probably benign Het
Aldh1a2 G T 9: 71,123,228 (GRCm39) E34* probably null Het
Arhgap39 T C 15: 76,611,617 (GRCm39) T856A probably damaging Het
Arpin A G 7: 79,578,015 (GRCm39) V138A probably damaging Het
Art3 T G 5: 92,562,120 (GRCm39) S373A unknown Het
AU018091 A T 7: 3,208,165 (GRCm39) I514N probably benign Het
BC034090 C T 1: 155,101,982 (GRCm39) R94H probably damaging Het
C2cd6 T G 1: 59,117,089 (GRCm39) M135L probably benign Het
Cdc42ep2 T C 19: 5,968,097 (GRCm39) M203V probably damaging Het
Cftr T C 6: 18,268,359 (GRCm39) Y803H probably damaging Het
Dcaf1 C T 9: 106,735,524 (GRCm39) T824I probably benign Het
Ddr1 A T 17: 35,993,288 (GRCm39) D906E probably damaging Het
Dhx8 G A 11: 101,624,015 (GRCm39) probably null Het
Dpysl5 C T 5: 30,904,417 (GRCm39) Q88* probably null Het
Ercc6l2 A G 13: 63,967,525 (GRCm39) T42A probably benign Het
Faf1 A G 4: 109,748,179 (GRCm39) K495E possibly damaging Het
Hr T C 14: 70,804,616 (GRCm39) V928A probably benign Het
Ints14 C T 9: 64,880,007 (GRCm39) R174* probably null Het
Jam3 T C 9: 27,010,183 (GRCm39) Y267C probably damaging Het
Lpin3 A T 2: 160,740,565 (GRCm39) N370I probably benign Het
Mad2l1 C A 6: 66,512,955 (GRCm39) N29K probably damaging Het
Myt1 A G 2: 181,452,177 (GRCm39) K838R probably damaging Het
Ninj2 T C 6: 120,174,873 (GRCm39) S15P probably benign Het
Or14a256 A T 7: 86,265,618 (GRCm39) N78K probably benign Het
Or1j14 T A 2: 36,418,313 (GRCm39) D296E probably benign Het
Or6b9 A G 7: 106,555,630 (GRCm39) V171A probably benign Het
Or9a2 T A 6: 41,749,076 (GRCm39) K52N probably benign Het
Osgin2 A G 4: 16,006,455 (GRCm39) S80P probably damaging Het
Pcdha5 A G 18: 37,094,447 (GRCm39) N319D probably benign Het
Phkb A G 8: 86,567,696 (GRCm39) K14E probably benign Het
Pip5k1b T C 19: 24,281,460 (GRCm39) Y518C probably benign Het
Polh A T 17: 46,510,414 (GRCm39) M14K probably damaging Het
Prtg A G 9: 72,762,313 (GRCm39) D480G probably benign Het
Ptprk T C 10: 28,456,495 (GRCm39) V1099A probably damaging Het
Pum2 T C 12: 8,779,044 (GRCm39) F539L probably damaging Het
Rac3 A T 11: 120,613,399 (GRCm39) T58S probably damaging Het
Setd1a A T 7: 127,385,752 (GRCm39) I820F possibly damaging Het
Six2 A G 17: 85,994,867 (GRCm39) F172L probably damaging Het
Tex30 T C 1: 44,130,374 (GRCm39) probably null Het
Tgfbi T C 13: 56,778,411 (GRCm39) I394T probably benign Het
Tnc A G 4: 63,933,186 (GRCm39) F693L probably damaging Het
Ubr4 T A 4: 139,119,388 (GRCm39) V189E probably damaging Het
Vegfa G A 17: 46,342,713 (GRCm39) P35L probably damaging Het
Zan T C 5: 137,454,836 (GRCm39) H1400R unknown Het
Zfp36l2 A G 17: 84,494,184 (GRCm39) I151T possibly damaging Het
Zfp809 T C 9: 22,154,470 (GRCm39) C396R unknown Het
Zfp93 G A 7: 23,974,894 (GRCm39) G293D 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
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
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'- TGAGTAATCATGTAGGCAGACTTTATG -3'
(R):5'- CCAAACTAGGAAAATGGCTCTC -3'

Sequencing Primer
(F):5'- ATCTCAGGCTGGTCTCAAGTAACG -3'
(R):5'- GAGCCACTTTTGATTGTCACGAC -3'
Posted On 2022-10-06