Incidental Mutation 'R9537:Smu1'
ID 719730
Institutional Source Beutler Lab
Gene Symbol Smu1
Ensembl Gene ENSMUSG00000028409
Gene Name smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)
Synonyms SMU-1, 2600001O03Rik, 2610203K23Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R9537 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 40736542-40757923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40755671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 65 (S65P)
Ref Sequence ENSEMBL: ENSMUSP00000030117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030117]
AlphaFold Q3UKJ7
Predicted Effect probably benign
Transcript: ENSMUST00000030117
AA Change: S65P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000030117
Gene: ENSMUSG00000028409
AA Change: S65P

DomainStartEndE-ValueType
LisH 6 38 9.95e-7 SMART
CTLH 40 92 2.32e-7 SMART
WD40 202 242 9.02e-7 SMART
WD40 253 292 3.81e-5 SMART
WD40 295 335 5.26e-8 SMART
WD40 338 377 4.4e-10 SMART
WD40 380 426 1.03e1 SMART
WD40 428 470 2.97e0 SMART
WD40 473 512 9.52e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 A G 5: 50,118,207 (GRCm39) Y1114H possibly damaging Het
Atp5pf A G 16: 84,625,358 (GRCm39) Y82H probably damaging Het
Bcl2a1d T G 9: 88,613,526 (GRCm39) I83L probably benign Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Bglap3 T C 3: 88,276,139 (GRCm39) D71G probably benign Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Chmp2b T C 16: 65,347,932 (GRCm39) K15E probably benign Het
Chrm3 A T 13: 9,927,462 (GRCm39) W525R probably damaging Het
Col7a1 A T 9: 108,784,420 (GRCm39) K143* probably null Het
D6Ertd527e G C 6: 87,088,839 (GRCm39) S334T unknown Het
Dnai1 A G 4: 41,629,790 (GRCm39) probably null Het
Dnhd1 G A 7: 105,344,740 (GRCm39) G2028D probably damaging Het
Esyt3 C T 9: 99,199,292 (GRCm39) R773Q probably damaging Het
Ffar1 T C 7: 30,560,025 (GRCm39) T291A probably benign Het
Golga2 G T 2: 32,178,313 (GRCm39) probably benign Het
Hapln2 T A 3: 87,931,780 (GRCm39) probably null Het
Ing1 T C 8: 11,611,889 (GRCm39) L203P probably benign Het
Litafd G T 16: 8,501,177 (GRCm39) C11F Het
Mab21l4 T C 1: 93,080,884 (GRCm39) K341E possibly damaging Het
Med1 T C 11: 98,062,586 (GRCm39) T171A possibly damaging Het
Mib2 A T 4: 155,741,952 (GRCm39) L387H probably damaging Het
Mier1 A G 4: 103,019,758 (GRCm39) N494S probably benign Het
Myof A G 19: 37,896,054 (GRCm39) L1847P probably damaging Het
Ndst3 A T 3: 123,465,162 (GRCm39) V270D Het
Nup160 T C 2: 90,560,088 (GRCm39) L1271S possibly damaging Het
Osgep A T 14: 51,162,119 (GRCm39) probably null Het
Ptgfr G T 3: 151,541,445 (GRCm39) T21N possibly damaging Het
Ptgs1 T C 2: 36,120,739 (GRCm39) S23P unknown Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Spef2 T C 15: 9,601,885 (GRCm39) Y1459C unknown Het
Spen A G 4: 141,199,015 (GRCm39) V3204A probably benign Het
Spen TTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTG 4: 141,244,156 (GRCm39) probably benign Het
Timm44 G A 8: 4,310,576 (GRCm39) T392I possibly damaging Het
Tnc A T 4: 63,884,821 (GRCm39) I1818N probably damaging Het
Trpm1 G T 7: 63,803,616 (GRCm39) probably benign Het
Ttc14 A G 3: 33,857,347 (GRCm39) Y231C probably damaging Het
Ube3b A G 5: 114,525,245 (GRCm39) R23G probably damaging Het
Usp40 T C 1: 87,935,117 (GRCm39) Y10C probably benign Het
Vmn2r107 C A 17: 20,595,149 (GRCm39) S567R probably benign Het
Zfp112 T C 7: 23,826,512 (GRCm39) Y831H probably damaging Het
Zfy2 T A Y: 2,108,596 (GRCm39) T355S Het
Other mutations in Smu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02992:Smu1 APN 4 40,739,550 (GRCm39) missense probably damaging 0.97
IGL03271:Smu1 APN 4 40,738,408 (GRCm39) missense probably benign 0.11
IGL03329:Smu1 APN 4 40,739,568 (GRCm39) missense possibly damaging 0.81
PIT4585001:Smu1 UTSW 4 40,739,623 (GRCm39) missense probably benign
R0172:Smu1 UTSW 4 40,738,439 (GRCm39) missense probably benign 0.00
R1109:Smu1 UTSW 4 40,755,722 (GRCm39) missense probably benign 0.12
R1552:Smu1 UTSW 4 40,748,570 (GRCm39) missense probably damaging 1.00
R1799:Smu1 UTSW 4 40,745,537 (GRCm39) missense probably damaging 1.00
R2093:Smu1 UTSW 4 40,738,438 (GRCm39) missense probably benign 0.12
R2143:Smu1 UTSW 4 40,744,073 (GRCm39) missense probably damaging 0.99
R3082:Smu1 UTSW 4 40,745,567 (GRCm39) missense probably damaging 1.00
R3083:Smu1 UTSW 4 40,745,567 (GRCm39) missense probably damaging 1.00
R3113:Smu1 UTSW 4 40,748,658 (GRCm39) missense probably benign 0.03
R3157:Smu1 UTSW 4 40,754,529 (GRCm39) missense possibly damaging 0.82
R3158:Smu1 UTSW 4 40,754,529 (GRCm39) missense possibly damaging 0.82
R3159:Smu1 UTSW 4 40,754,529 (GRCm39) missense possibly damaging 0.82
R3409:Smu1 UTSW 4 40,752,008 (GRCm39) missense probably benign
R3411:Smu1 UTSW 4 40,752,008 (GRCm39) missense probably benign
R4581:Smu1 UTSW 4 40,737,401 (GRCm39) splice site probably null
R5106:Smu1 UTSW 4 40,743,104 (GRCm39) missense possibly damaging 0.82
R7747:Smu1 UTSW 4 40,748,600 (GRCm39) missense probably benign 0.44
R9029:Smu1 UTSW 4 40,738,361 (GRCm39) missense probably damaging 1.00
R9069:Smu1 UTSW 4 40,745,558 (GRCm39) missense probably damaging 1.00
R9797:Smu1 UTSW 4 40,739,538 (GRCm39) missense possibly damaging 0.69
Predicted Primers
Posted On 2022-07-18