Incidental Mutation 'R1109:Smu1'
ID 98615
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 039182-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R1109 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 40736542-40757923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 40755722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 48 (V48M)
Ref Sequence ENSEMBL: ENSMUSP00000030117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030117]
AlphaFold Q3UKJ7
Predicted Effect probably benign
Transcript: ENSMUST00000030117
AA Change: V48M

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030117
Gene: ENSMUSG00000028409
AA Change: V48M

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137415
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150574
Meta Mutation Damage Score 0.0666 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 88.9%
Validation Efficiency 100% (80/80)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 T G 3: 121,573,245 (GRCm39) E262D probably damaging Het
Abcg1 G A 17: 31,330,210 (GRCm39) A504T probably benign Het
Acot11 T C 4: 106,606,545 (GRCm39) T515A probably benign Het
Alg8 A T 7: 97,032,891 (GRCm39) probably null Het
Arhgap44 T A 11: 64,917,642 (GRCm39) H375L probably benign Het
Aspm A T 1: 139,384,496 (GRCm39) I98F probably damaging Het
Atp8b5 T C 4: 43,305,719 (GRCm39) probably benign Het
Coa3 T C 11: 101,169,611 (GRCm39) K48R probably damaging Het
Col12a1 A G 9: 79,607,005 (GRCm39) S473P probably damaging Het
Dnmt1 A T 9: 20,833,684 (GRCm39) Y451N probably damaging Het
Dock5 A G 14: 68,043,927 (GRCm39) Y819H possibly damaging Het
Dtx1 G A 5: 120,848,484 (GRCm39) probably benign Het
Dus2 T A 8: 106,780,114 (GRCm39) F479I probably benign Het
Elp1 T C 4: 56,786,723 (GRCm39) T407A probably benign Het
Esrp1 T C 4: 11,365,205 (GRCm39) E262G probably damaging Het
Exoc4 A G 6: 33,418,951 (GRCm39) Y466C probably damaging Het
Fasn A G 11: 120,703,150 (GRCm39) F1625S possibly damaging Het
Fbxw25 A T 9: 109,479,128 (GRCm39) H374Q probably benign Het
Focad T C 4: 88,114,984 (GRCm39) probably benign Het
Gad2 G T 2: 22,571,406 (GRCm39) R448L probably damaging Het
Gad2 G A 2: 22,580,171 (GRCm39) probably benign Het
Galnt16 G T 12: 80,637,405 (GRCm39) E377D probably benign Het
Gcc1 A C 6: 28,419,166 (GRCm39) L389R probably damaging Het
Ggct A T 6: 54,966,554 (GRCm39) probably benign Het
Gm7052 G A 17: 22,259,133 (GRCm39) probably benign Het
Gps2 T A 11: 69,806,507 (GRCm39) H177Q possibly damaging Het
Heg1 T A 16: 33,583,961 (GRCm39) L1256Q probably damaging Het
Il36a G A 2: 24,106,602 (GRCm39) G62E probably damaging Het
Il3ra C T 14: 14,349,317 (GRCm38) R138W probably damaging Het
Itprid1 G T 6: 55,945,245 (GRCm39) K655N probably damaging Het
Kdm4b T A 17: 56,706,430 (GRCm39) I848N probably damaging Het
L3hypdh A G 12: 72,120,770 (GRCm39) V327A possibly damaging Het
Lepr G T 4: 101,628,552 (GRCm39) L552F probably damaging Het
Lpin3 T C 2: 160,740,941 (GRCm39) I449T probably damaging Het
Lrrn1 A G 6: 107,544,225 (GRCm39) K8E probably benign Het
Mex3a G T 3: 88,443,967 (GRCm39) D348Y possibly damaging Het
Mindy2 G A 9: 70,538,361 (GRCm39) R325* probably null Het
Mkrn1 A T 6: 39,376,268 (GRCm39) M382K probably damaging Het
Mroh1 G T 15: 76,330,709 (GRCm39) probably benign Het
Myo15a T A 11: 60,383,892 (GRCm39) D1646E probably damaging Het
Neu2 A G 1: 87,524,450 (GRCm39) D145G probably damaging Het
Obi1 A T 14: 104,717,200 (GRCm39) L391* probably null Het
Or10ah1-ps1 A T 5: 143,123,374 (GRCm39) N216K probably benign Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2w3b T C 11: 58,623,742 (GRCm39) Y83C probably benign Het
Plekhm2 T A 4: 141,355,295 (GRCm39) I938F probably benign Het
Pnma8a A T 7: 16,695,392 (GRCm39) K416* probably null Het
Ppid T C 3: 79,506,168 (GRCm39) S198P probably benign Het
Rabl6 G T 2: 25,477,538 (GRCm39) P304Q probably damaging Het
Rasal2 A T 1: 157,005,208 (GRCm39) probably benign Het
Ripor1 G T 8: 106,345,560 (GRCm39) probably benign Het
Rnf216 A T 5: 143,054,124 (GRCm39) L658Q probably damaging Het
Safb T A 17: 56,908,228 (GRCm39) probably benign Het
Sf3b5 T C 10: 12,884,497 (GRCm39) M44T probably benign Het
Slc26a9 A T 1: 131,686,536 (GRCm39) M419L probably benign Het
Slc38a8 T C 8: 120,209,394 (GRCm39) D393G probably benign Het
Slc6a3 A G 13: 73,705,199 (GRCm39) D230G probably benign Het
Smc1b T C 15: 84,997,016 (GRCm39) T535A probably damaging Het
Smg7 G C 1: 152,721,334 (GRCm39) P626R probably damaging Het
Spag17 T C 3: 99,934,667 (GRCm39) Y650H possibly damaging Het
Spata1 C T 3: 146,181,053 (GRCm39) V302I possibly damaging Het
Sptb G A 12: 76,650,377 (GRCm39) A1780V probably damaging Het
Srrm2 G A 17: 24,038,591 (GRCm39) probably benign Het
Sspo A C 6: 48,474,377 (GRCm39) N4933H probably damaging Het
Sult2a2 T C 7: 13,468,798 (GRCm39) I88T probably benign Het
Tgfa G T 6: 86,247,072 (GRCm39) probably benign Het
Thsd1 T A 8: 22,733,708 (GRCm39) C252S possibly damaging Het
Tmem102 T A 11: 69,695,630 (GRCm39) H114L probably damaging Het
Tnni3k T A 3: 154,498,414 (GRCm39) K808N possibly damaging Het
Trpm7 G T 2: 126,639,713 (GRCm39) L1628M probably benign Het
Ttn A G 2: 76,561,081 (GRCm39) Y29107H probably damaging Het
Upb1 T C 10: 75,273,999 (GRCm39) L342P probably damaging Het
Vmn2r120 T C 17: 57,832,829 (GRCm39) T117A probably benign Het
Vmn2r16 A G 5: 109,487,652 (GRCm39) D175G probably damaging Het
Vps35l A T 7: 118,374,552 (GRCm39) I351F probably damaging Het
Zfhx4 T G 3: 5,464,930 (GRCm39) M1696R possibly damaging Het
Zfp746 A G 6: 48,041,856 (GRCm39) V289A possibly damaging Het
Zfyve26 A C 12: 79,318,901 (GRCm39) F1146V probably damaging 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
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
R9537:Smu1 UTSW 4 40,755,671 (GRCm39) missense probably benign 0.01
R9797:Smu1 UTSW 4 40,739,538 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- GTCAGTGCCTGAACTGAATCACATGATA -3'
(R):5'- GGCTACCAACTTCCTTTCAATCTCCAGA -3'

Sequencing Primer
(F):5'- ccttccctccctccctc -3'
(R):5'- TCCTTTCAATCTCCAGACTAAATGAC -3'
Posted On 2014-01-05