Incidental Mutation 'R2567:Smoc1'
ID 254578
Institutional Source Beutler Lab
Gene Symbol Smoc1
Ensembl Gene ENSMUSG00000021136
Gene Name SPARC related modular calcium binding 1
Synonyms 2600002F22Rik, SRG, SPARC-related protein
MMRRC Submission 040426-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2567 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 81073582-81233188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 81214364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 260 (E260K)
Ref Sequence ENSEMBL: ENSMUSP00000105976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021564] [ENSMUST00000110347] [ENSMUST00000129362]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000021564
AA Change: E249K

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021564
Gene: ENSMUSG00000021136
AA Change: E249K

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
KAZAL 41 86 6.91e-8 SMART
TY 114 161 8.41e-12 SMART
TY 247 295 1.79e-15 SMART
Pfam:SPARC_Ca_bdg 311 423 1.6e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110347
AA Change: E260K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105976
Gene: ENSMUSG00000021136
AA Change: E260K

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
KAZAL 41 86 6.91e-8 SMART
TY 114 161 8.41e-12 SMART
TY 258 306 1.79e-15 SMART
Pfam:SPARC_Ca_bdg 323 434 2e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000129362
AA Change: E249K

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122858
Gene: ENSMUSG00000021136
AA Change: E249K

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
KAZAL 41 86 6.91e-8 SMART
TY 114 161 8.41e-12 SMART
TY 247 295 1.79e-15 SMART
Pfam:SPARC_Ca_bdg 311 423 1.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174932
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a transposon-induced allele exhibit ocular and limb defects. Mice homozygous for a knock-out allele exhibit neonatal lethality, osseous syndactyly, decreased body size, and iris and retina coloboma. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,836,475 (GRCm39) probably benign Het
Aebp1 A G 11: 5,820,251 (GRCm39) D409G probably benign Het
Akap10 A G 11: 61,784,175 (GRCm39) probably benign Het
Akap6 G T 12: 52,985,156 (GRCm39) S863I probably damaging Het
Ap1s3 T C 1: 79,602,921 (GRCm39) K29E possibly damaging Het
Atm T A 9: 53,368,770 (GRCm39) I2341L possibly damaging Het
Atp12a A T 14: 56,624,384 (GRCm39) D944V probably damaging Het
Baz2b A T 2: 59,744,255 (GRCm39) S1417T possibly damaging Het
Cacna1a T A 8: 85,276,354 (GRCm39) M613K probably damaging Het
Ccdc191 A C 16: 43,764,330 (GRCm39) probably null Het
Cd209d T A 8: 3,926,327 (GRCm39) N96I probably damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cdk4 T G 10: 126,900,145 (GRCm39) V14G probably benign Het
Chrna10 C A 7: 101,761,276 (GRCm39) M438I probably benign Het
Clec10a T C 11: 70,060,358 (GRCm39) probably null Het
Cog3 A G 14: 75,991,730 (GRCm39) V40A probably benign Het
Creb3l3 T C 10: 80,921,883 (GRCm39) H315R probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cubn A G 2: 13,283,167 (GRCm39) probably null Het
Cygb T C 11: 116,540,692 (GRCm39) D98G probably damaging Het
Dmbx1 T C 4: 115,777,489 (GRCm39) K120E probably damaging Het
Dnah3 T A 7: 119,551,920 (GRCm39) I2800F possibly damaging Het
Dntt G T 19: 41,029,775 (GRCm39) R245L possibly damaging Het
Dock1 T G 7: 134,747,213 (GRCm39) V1508G probably damaging Het
Enpp4 A C 17: 44,412,736 (GRCm39) I266R probably damaging Het
Fhl4 T C 10: 84,934,644 (GRCm39) I46V possibly damaging Het
Fn1 G A 1: 71,636,895 (GRCm39) Q1995* probably null Het
Foxl3 A G 5: 138,805,940 (GRCm39) S36G probably null Het
Foxo1 T A 3: 52,176,755 (GRCm39) L178H probably damaging Het
Galnt18 C T 7: 111,153,823 (GRCm39) R267H probably damaging Het
Gm1110 T C 9: 26,831,992 (GRCm39) D53G probably benign Het
Gm7104 A T 12: 88,252,242 (GRCm39) noncoding transcript Het
H2-M11 C T 17: 36,859,042 (GRCm39) T194I possibly damaging Het
Haus6 C A 4: 86,504,122 (GRCm39) E501* probably null Het
Ifna5 T C 4: 88,754,147 (GRCm39) V129A probably benign Het
Kdelr3 A G 15: 79,407,032 (GRCm39) I38V probably benign Het
Lamb1 A G 12: 31,319,054 (GRCm39) probably null Het
Larp7-ps T C 4: 92,079,560 (GRCm39) E87G probably benign Het
Mgat4c T A 10: 102,214,123 (GRCm39) F35L probably benign Het
Mmab A T 5: 114,571,378 (GRCm39) M166K probably benign Het
Mrpl2 A G 17: 46,958,427 (GRCm39) T70A probably benign Het
Naa11 C T 5: 97,539,618 (GRCm39) G180D probably benign Het
Npy6r T C 18: 44,408,888 (GRCm39) V103A possibly damaging Het
Nup188 A T 2: 30,231,794 (GRCm39) R1463W possibly damaging Het
Nusap1 T A 2: 119,474,311 (GRCm39) S336R possibly damaging Het
Or8b12c T A 9: 37,715,509 (GRCm39) F101I probably damaging Het
Pabpc4 T A 4: 123,191,744 (GRCm39) L589Q probably damaging Het
Pcdh12 T A 18: 38,415,149 (GRCm39) N659Y probably damaging Het
Perm1 T C 4: 156,301,575 (GRCm39) S40P probably damaging Het
Phldb1 T C 9: 44,637,322 (GRCm39) T114A probably damaging Het
Pirt C T 11: 66,816,985 (GRCm39) L99F probably damaging Het
Plxdc2 A G 2: 16,716,995 (GRCm39) R360G probably benign Het
Rhpn2 G A 7: 35,080,957 (GRCm39) probably null Het
Rpusd2 T A 2: 118,867,556 (GRCm39) I268N probably damaging Het
Sds G T 5: 120,619,646 (GRCm39) W185L probably damaging Het
Serpinb5 A G 1: 106,802,876 (GRCm39) K137R probably benign Het
Sh3pxd2a A G 19: 47,413,008 (GRCm39) V25A possibly damaging Het
Slc1a2 C T 2: 102,597,355 (GRCm39) T454I probably damaging Het
Slc25a40 T C 5: 8,480,459 (GRCm39) C70R probably damaging Het
Sparcl1 A T 5: 104,232,954 (GRCm39) F616I probably damaging Het
Ssc5d A T 7: 4,939,334 (GRCm39) D590V probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpm2 C T 10: 77,777,008 (GRCm39) V430M probably damaging Het
Ttn T C 2: 76,574,672 (GRCm39) D25407G probably damaging Het
Vmn2r68 T C 7: 84,883,803 (GRCm39) I101V probably benign Het
Xrcc4 A T 13: 90,210,261 (GRCm39) M61K probably damaging Het
Zfp648 A G 1: 154,080,695 (GRCm39) T285A probably damaging Het
Other mutations in Smoc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Smoc1 APN 12 81,199,525 (GRCm39) nonsense probably null
R1291:Smoc1 UTSW 12 81,226,365 (GRCm39) missense probably damaging 0.97
R1902:Smoc1 UTSW 12 81,151,445 (GRCm39) missense probably benign 0.32
R2109:Smoc1 UTSW 12 81,197,450 (GRCm39) missense probably damaging 0.99
R3900:Smoc1 UTSW 12 81,214,287 (GRCm39) missense probably damaging 0.98
R4663:Smoc1 UTSW 12 81,214,376 (GRCm39) missense probably damaging 1.00
R4762:Smoc1 UTSW 12 81,214,425 (GRCm39) missense probably damaging 1.00
R4767:Smoc1 UTSW 12 81,151,547 (GRCm39) critical splice donor site probably null
R4836:Smoc1 UTSW 12 81,226,322 (GRCm39) missense probably damaging 1.00
R5264:Smoc1 UTSW 12 81,151,474 (GRCm39) missense probably damaging 0.99
R5839:Smoc1 UTSW 12 81,214,359 (GRCm39) missense probably damaging 1.00
R5898:Smoc1 UTSW 12 81,151,531 (GRCm39) nonsense probably null
R7359:Smoc1 UTSW 12 81,197,475 (GRCm39) missense probably damaging 1.00
R7611:Smoc1 UTSW 12 81,226,444 (GRCm39) missense probably damaging 1.00
R7655:Smoc1 UTSW 12 81,152,682 (GRCm39) missense possibly damaging 0.95
R7656:Smoc1 UTSW 12 81,152,682 (GRCm39) missense possibly damaging 0.95
R8175:Smoc1 UTSW 12 81,214,440 (GRCm39) missense probably damaging 0.97
R8723:Smoc1 UTSW 12 81,182,586 (GRCm39) missense possibly damaging 0.94
R8985:Smoc1 UTSW 12 81,226,261 (GRCm39) missense probably damaging 0.99
R9306:Smoc1 UTSW 12 81,214,430 (GRCm39) missense possibly damaging 0.75
V8831:Smoc1 UTSW 12 81,215,029 (GRCm39) missense probably damaging 1.00
Z1177:Smoc1 UTSW 12 81,073,924 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCGGGGATGATTCACGGTTC -3'
(R):5'- AGTCTCCTGTGACTTGAGTCTG -3'

Sequencing Primer
(F):5'- CACGGTTCTTTGGGGGCAG -3'
(R):5'- CTCCTGTGACTTGAGTCTGTGAGAAG -3'
Posted On 2014-12-04