Incidental Mutation 'R3082:Smu1'
ID 265473
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 040572-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R3082 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 40736542-40757923 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40745567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 251 (D251G)
Ref Sequence ENSEMBL: ENSMUSP00000030117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030117]
AlphaFold Q3UKJ7
Predicted Effect probably damaging
Transcript: ENSMUST00000030117
AA Change: D251G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030117
Gene: ENSMUSG00000028409
AA Change: D251G

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
Meta Mutation Damage Score 0.4850 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 A G 10: 106,859,576 (GRCm39) V341A possibly damaging Het
Adam11 T C 11: 102,660,943 (GRCm39) probably benign Het
Aox1 G T 1: 58,322,759 (GRCm39) probably benign Het
Cdh6 T C 15: 13,044,838 (GRCm39) D428G probably damaging Het
Cep63 T C 9: 102,479,696 (GRCm39) T339A probably benign Het
Clcn1 T C 6: 42,267,112 (GRCm39) Y66H probably damaging Het
Cpsf2 C G 12: 101,955,069 (GRCm39) S280C probably damaging Het
Dcaf6 G T 1: 165,250,421 (GRCm39) probably benign Het
Ddx39a T A 8: 84,449,335 (GRCm39) N344K possibly damaging Het
Dvl1 T C 4: 155,932,316 (GRCm39) V42A possibly damaging Het
Ep400 A G 5: 110,841,096 (GRCm39) probably benign Het
Epb41l5 C T 1: 119,536,992 (GRCm39) V300I probably damaging Het
Fbln1 T G 15: 85,149,454 (GRCm39) I617S probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Grin3a G A 4: 49,665,243 (GRCm39) R1131W probably benign Het
Incenp T A 19: 9,861,143 (GRCm39) M480L unknown Het
Ints13 G T 6: 146,476,205 (GRCm39) Q99K possibly damaging Het
L2hgdh C T 12: 69,768,858 (GRCm39) D85N probably benign Het
Lct A G 1: 128,215,345 (GRCm39) Y1744H probably damaging Het
Macf1 T C 4: 123,255,236 (GRCm39) probably null Het
Mpdz A T 4: 81,203,695 (GRCm39) probably benign Het
Naa15 T C 3: 51,367,471 (GRCm39) L498P probably damaging Het
Naip6 T A 13: 100,452,925 (GRCm39) E45D probably benign Het
Nedd4l T A 18: 65,312,049 (GRCm39) N405K probably benign Het
Or4l15 A G 14: 50,198,161 (GRCm39) Y123H probably damaging Het
Or8u10 C T 2: 85,916,053 (GRCm39) V23I probably benign Het
Pitpnc1 A G 11: 107,103,350 (GRCm39) S250P possibly damaging Het
Ppp1r18 A G 17: 36,184,742 (GRCm39) D131G probably damaging Het
Prdm5 A G 6: 65,913,069 (GRCm39) D206G probably damaging Het
Pygl A G 12: 70,244,303 (GRCm39) F455S probably damaging Het
Rictor A T 15: 6,804,338 (GRCm39) Y565F probably benign Het
Ryr1 T C 7: 28,745,071 (GRCm39) N3852D probably damaging Het
S1pr5 A T 9: 21,156,286 (GRCm39) C47S probably damaging Het
Serpinf2 T C 11: 75,328,354 (GRCm39) R65G probably benign Het
Slfn14 C T 11: 83,167,519 (GRCm39) W665* probably null Het
Spata18 A G 5: 73,836,423 (GRCm39) probably benign Het
Tex19.2 A G 11: 121,007,557 (GRCm39) V297A probably benign Het
Tmem131l A G 3: 83,816,457 (GRCm39) probably null Het
Trim9 T C 12: 70,301,887 (GRCm39) R584G possibly damaging Het
Trpm7 A T 2: 126,686,342 (GRCm39) N295K possibly damaging Het
Ugt2a3 A G 5: 87,473,534 (GRCm39) V461A probably benign Het
Vmn1r45 A T 6: 89,910,724 (GRCm39) M82K probably benign 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
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'- GGATAATGAATGTCATGTGTACCAC -3'
(R):5'- AGGTGTTCATAAGGAAGCTGTAC -3'

Sequencing Primer
(F):5'- GCCATCAAGTTCTACAGAGTCAGTTC -3'
(R):5'- TACGGGACACAGCTCTTTG -3'
Posted On 2015-02-05