Incidental Mutation 'R6199:Smndc1'
ID 503129
Institutional Source Beutler Lab
Gene Symbol Smndc1
Ensembl Gene ENSMUSG00000025024
Gene Name survival motor neuron domain containing 1
Synonyms 4933440I19Rik, 2410004J23Rik
MMRRC Submission 044339-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R6199 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 53367821-53379009 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 53372063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 117 (T117M)
Ref Sequence ENSEMBL: ENSMUSP00000025997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025997]
AlphaFold Q8BGT7
Predicted Effect probably benign
Transcript: ENSMUST00000025997
AA Change: T117M

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025997
Gene: ENSMUSG00000025024
AA Change: T117M

DomainStartEndE-ValueType
low complexity region 31 39 N/A INTRINSIC
TUDOR 71 130 5.87e-14 SMART
low complexity region 153 161 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 A T 12: 88,407,887 (GRCm39) D206V possibly damaging Het
Ank2 T A 3: 126,797,655 (GRCm39) D685V probably damaging Het
Baz2b A G 2: 59,809,019 (GRCm39) S77P probably benign Het
Ccdc194 T C 8: 71,978,109 (GRCm39) N83D probably benign Het
Ceacam5 A T 7: 17,448,810 (GRCm39) T59S probably benign Het
Cemip2 G A 19: 21,822,186 (GRCm39) G1194S probably benign Het
Ces1e A C 8: 93,944,163 (GRCm39) F218L probably damaging Het
Cilk1 T C 9: 78,071,921 (GRCm39) V531A probably benign Het
Cps1 TGTCCATTGGTC TGTC 1: 67,201,774 (GRCm39) probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Eftud2 A T 11: 102,730,883 (GRCm39) V843E probably damaging Het
Fuca2 G T 10: 13,381,783 (GRCm39) W232L probably damaging Het
Gdf7 T C 12: 8,348,832 (GRCm39) D155G unknown Het
Ggcx G T 6: 72,407,122 (GRCm39) V753F possibly damaging Het
Ghrhr A T 6: 55,356,173 (GRCm39) T89S probably benign Het
Gpr151 T C 18: 42,711,619 (GRCm39) K353R probably benign Het
Gpr75 T C 11: 30,841,527 (GRCm39) L144P probably damaging Het
Gsdmc2 A G 15: 63,696,962 (GRCm39) I403T probably benign Het
H2-M1 A G 17: 36,982,059 (GRCm39) S181P probably benign Het
Igsf5 C T 16: 96,222,939 (GRCm39) S61L possibly damaging Het
Insc A T 7: 114,390,401 (GRCm39) probably null Het
Izumo4 G A 10: 80,538,707 (GRCm39) G53D probably damaging Het
Ksr1 G A 11: 78,911,267 (GRCm39) P693S possibly damaging Het
Lgals4 G A 7: 28,535,317 (GRCm39) R27H probably damaging Het
Lpcat2b A G 5: 107,581,171 (GRCm39) R167G probably benign Het
Man1a C T 10: 53,890,552 (GRCm39) V288I possibly damaging Het
Map2 T G 1: 66,464,637 (GRCm39) S1676A probably damaging Het
Mbl1 G T 14: 40,875,572 (GRCm39) V9F unknown Het
Mrgprb8 T A 7: 48,039,051 (GRCm39) C241S probably benign Het
Mrpl2 T C 17: 46,960,012 (GRCm39) L227P probably damaging Het
Mthfd1 T A 12: 76,335,685 (GRCm39) V253E probably damaging Het
Mthfd1 A G 12: 76,350,454 (GRCm39) H464R probably damaging Het
Mug2 T A 6: 122,024,398 (GRCm39) M490K probably benign Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Notch1 A G 2: 26,359,911 (GRCm39) V1268A probably damaging Het
Or6b2b A T 1: 92,419,264 (GRCm39) I71N possibly damaging Het
Or8b12c C A 9: 37,716,177 (GRCm39) probably null Het
Pgm1 A T 4: 99,836,151 (GRCm39) I412F probably damaging Het
Plaur A T 7: 24,164,628 (GRCm39) Q44L possibly damaging Het
Ppara T C 15: 85,671,434 (GRCm39) Y112H probably damaging Het
Ppm1h G A 10: 122,756,644 (GRCm39) V430M probably damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Prph A G 15: 98,954,713 (GRCm39) T35A probably benign Het
Prrc2c C T 1: 162,510,085 (GRCm39) G780S probably damaging Het
Ptchd3 T A 11: 121,721,908 (GRCm39) N260K probably benign Het
Ptprz1 A G 6: 23,002,470 (GRCm39) D1520G probably benign Het
Samd9l T A 6: 3,376,686 (GRCm39) I192L probably benign Het
Slc39a10 T C 1: 46,874,993 (GRCm39) D103G probably damaging Het
Tesk2 A G 4: 116,649,367 (GRCm39) D159G probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Vmn2r108 A T 17: 20,682,644 (GRCm39) N853K probably benign Het
Wdfy3 C T 5: 102,020,831 (GRCm39) R2491Q possibly damaging Het
Other mutations in Smndc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1972:Smndc1 UTSW 19 53,371,986 (GRCm39) critical splice donor site probably null
R5608:Smndc1 UTSW 19 53,372,084 (GRCm39) missense probably benign
R9087:Smndc1 UTSW 19 53,372,074 (GRCm39) missense possibly damaging 0.92
R9615:Smndc1 UTSW 19 53,368,951 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTAGCAGCTACAGTGAGCCTC -3'
(R):5'- AGGGCCATCATTGATTGAGAAG -3'

Sequencing Primer
(F):5'- AGCTACAGTGAGCCTCGCTTATC -3'
(R):5'- TTTAGAGCCATGCTAATTGTGTC -3'
Posted On 2018-02-27