Incidental Mutation 'R6322:Simc1'
ID 510171
Institutional Source Beutler Lab
Gene Symbol Simc1
Ensembl Gene ENSMUSG00000043183
Gene Name SUMO-interacting motifs containing 1
Synonyms 4732471D19Rik
MMRRC Submission 044476-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R6322 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 54651592-54699103 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54698382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 1334 (L1334S)
Ref Sequence ENSEMBL: ENSMUSP00000113676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026989] [ENSMUST00000118072] [ENSMUST00000121401] [ENSMUST00000153065]
AlphaFold E9Q6E9
Predicted Effect probably benign
Transcript: ENSMUST00000026989
SMART Domains Protein: ENSMUSP00000026989
Gene: ENSMUSG00000025871

DomainStartEndE-ValueType
Pfam:P33MONOX 15 303 5.8e-133 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118072
AA Change: L433S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112376
Gene: ENSMUSG00000043183
AA Change: L433S

DomainStartEndE-ValueType
low complexity region 11 34 N/A INTRINSIC
low complexity region 167 179 N/A INTRINSIC
low complexity region 378 392 N/A INTRINSIC
low complexity region 425 443 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121401
AA Change: L1334S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: L1334S

DomainStartEndE-ValueType
low complexity region 11 34 N/A INTRINSIC
low complexity region 173 189 N/A INTRINSIC
low complexity region 222 234 N/A INTRINSIC
low complexity region 249 263 N/A INTRINSIC
internal_repeat_1 268 491 3.21e-17 PROSPERO
internal_repeat_1 579 832 3.21e-17 PROSPERO
low complexity region 852 868 N/A INTRINSIC
low complexity region 1068 1080 N/A INTRINSIC
low complexity region 1279 1293 N/A INTRINSIC
low complexity region 1326 1344 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126506
Predicted Effect probably benign
Transcript: ENSMUST00000153065
SMART Domains Protein: ENSMUSP00000119874
Gene: ENSMUSG00000025871

DomainStartEndE-ValueType
Pfam:P33MONOX 1 284 7e-147 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153708
Meta Mutation Damage Score 0.4388 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,559,843 (GRCm39) V211A probably benign Het
Adora3 G A 3: 105,814,760 (GRCm39) R170H probably benign Het
Aldh1l1 T C 6: 90,539,680 (GRCm39) I203T probably benign Het
Alox12b T C 11: 69,049,199 (GRCm39) Y83H possibly damaging Het
Atcay A T 10: 81,049,125 (GRCm39) I159K probably damaging Het
Blvra A G 2: 126,922,459 (GRCm39) probably benign Het
Catspere2 T A 1: 177,845,296 (GRCm39) Y105* probably null Het
Celsr2 A G 3: 108,319,890 (GRCm39) F974S probably damaging Het
Cfap44 C T 16: 44,254,029 (GRCm39) R918* probably null Het
Cpa6 T A 1: 10,547,346 (GRCm39) R181S possibly damaging Het
Dlg1 A G 16: 31,675,297 (GRCm39) N730D probably damaging Het
Eif2ak1 A G 5: 143,835,913 (GRCm39) T535A probably benign Het
Fam13c A T 10: 70,334,721 (GRCm39) D149V probably damaging Het
Fam171a1 G A 2: 3,227,392 (GRCm39) V717I probably benign Het
Fchsd1 A G 18: 38,098,753 (GRCm39) V290A probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm15446 A T 5: 110,091,383 (GRCm39) H545L probably damaging Het
Heatr9 T G 11: 83,407,538 (GRCm39) K215T possibly damaging Het
Hfe T A 13: 23,889,879 (GRCm39) H210L probably damaging Het
Lama2 T C 10: 27,066,543 (GRCm39) T1113A probably damaging Het
Lipe A T 7: 25,079,961 (GRCm39) V686E probably damaging Het
Map3k20 T G 2: 72,263,814 (GRCm39) L488V possibly damaging Het
Moxd1 C T 10: 24,160,709 (GRCm39) T454I probably damaging Het
Mrpl58 C T 11: 115,301,492 (GRCm39) R189* probably null Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nkx1-1 T C 5: 33,588,389 (GRCm39) N300D probably damaging Het
Nrm A T 17: 36,175,605 (GRCm39) Q237L possibly damaging Het
Numa1 T C 7: 101,650,127 (GRCm39) L1286P probably damaging Het
Or4f4-ps1 T C 2: 111,329,729 (GRCm39) F44S possibly damaging Het
Pappa C A 4: 65,232,896 (GRCm39) A1345D probably damaging Het
Pds5a T C 5: 65,854,177 (GRCm39) I22V probably benign Het
Phf21b C A 15: 84,671,580 (GRCm39) R438L possibly damaging Het
Pik3r5 T C 11: 68,383,567 (GRCm39) L462P probably benign Het
Plagl2 T C 2: 153,073,806 (GRCm39) E365G probably benign Het
Plxna2 A G 1: 194,436,675 (GRCm39) Y677C possibly damaging Het
Pramel13 A G 4: 144,119,475 (GRCm39) M364T probably benign Het
Prkcd C A 14: 30,321,620 (GRCm39) G410W probably damaging Het
Rgl1 T C 1: 152,428,186 (GRCm39) I348V probably damaging Het
Rnmt C T 18: 68,452,285 (GRCm39) P386S probably damaging Het
Rtn3 G A 19: 7,435,503 (GRCm39) P163L possibly damaging Het
Sfxn1 T C 13: 54,258,869 (GRCm39) C275R possibly damaging Het
Sh2b2 A G 5: 136,253,042 (GRCm39) S377P probably damaging Het
Sh3bp1 C T 15: 78,795,715 (GRCm39) P615S probably damaging Het
Slc9a2 C A 1: 40,781,813 (GRCm39) Y347* probably null Het
Snapc5 T A 9: 64,089,455 (GRCm39) I71K probably damaging Het
Tmem161a T C 8: 70,634,764 (GRCm39) F447S probably damaging Het
Tns3 A G 11: 8,442,147 (GRCm39) C739R probably benign Het
Trappc11 A T 8: 47,983,808 (GRCm39) V28D possibly damaging Het
Ubr3 C T 2: 69,786,429 (GRCm39) Q848* probably null Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S probably benign Het
Other mutations in Simc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Simc1 APN 13 54,672,989 (GRCm39) missense probably benign 0.27
IGL00813:Simc1 APN 13 54,694,799 (GRCm39) missense probably damaging 0.98
IGL01326:Simc1 APN 13 54,672,473 (GRCm39) missense probably benign 0.00
IGL01587:Simc1 APN 13 54,687,517 (GRCm39) missense probably damaging 1.00
IGL02887:Simc1 APN 13 54,673,071 (GRCm39) missense probably benign 0.04
IGL02977:Simc1 APN 13 54,674,120 (GRCm39) missense probably benign 0.15
IGL03051:Simc1 APN 13 54,674,036 (GRCm39) missense probably benign 0.15
IGL03065:Simc1 APN 13 54,685,025 (GRCm39) missense probably damaging 1.00
IGL03244:Simc1 APN 13 54,698,442 (GRCm39) missense probably benign 0.06
R0158:Simc1 UTSW 13 54,672,530 (GRCm39) missense probably benign 0.00
R0218:Simc1 UTSW 13 54,674,417 (GRCm39) missense probably damaging 1.00
R0241:Simc1 UTSW 13 54,698,338 (GRCm39) missense probably damaging 1.00
R0241:Simc1 UTSW 13 54,698,338 (GRCm39) missense probably damaging 1.00
R0362:Simc1 UTSW 13 54,676,280 (GRCm39) missense probably damaging 1.00
R0464:Simc1 UTSW 13 54,684,913 (GRCm39) nonsense probably null
R0556:Simc1 UTSW 13 54,673,160 (GRCm39) missense probably benign 0.16
R0616:Simc1 UTSW 13 54,694,845 (GRCm39) missense probably benign 0.03
R0686:Simc1 UTSW 13 54,673,003 (GRCm39) missense probably benign 0.31
R0715:Simc1 UTSW 13 54,673,468 (GRCm39) missense possibly damaging 0.49
R0761:Simc1 UTSW 13 54,674,387 (GRCm39) missense probably damaging 1.00
R1335:Simc1 UTSW 13 54,673,078 (GRCm39) intron probably benign
R1344:Simc1 UTSW 13 54,698,292 (GRCm39) missense probably damaging 1.00
R1345:Simc1 UTSW 13 54,673,060 (GRCm39) intron probably benign
R1585:Simc1 UTSW 13 54,673,071 (GRCm39) missense probably benign 0.04
R1633:Simc1 UTSW 13 54,673,044 (GRCm39) missense probably benign 0.05
R1725:Simc1 UTSW 13 54,674,219 (GRCm39) missense probably damaging 0.99
R1826:Simc1 UTSW 13 54,672,452 (GRCm39) missense probably benign 0.00
R1827:Simc1 UTSW 13 54,672,452 (GRCm39) missense probably benign 0.00
R1893:Simc1 UTSW 13 54,687,528 (GRCm39) missense probably damaging 0.99
R2012:Simc1 UTSW 13 54,651,701 (GRCm39) missense probably benign 0.05
R2088:Simc1 UTSW 13 54,689,347 (GRCm39) missense probably damaging 1.00
R2901:Simc1 UTSW 13 54,689,331 (GRCm39) splice site probably null
R2974:Simc1 UTSW 13 54,698,274 (GRCm39) missense probably damaging 1.00
R4238:Simc1 UTSW 13 54,674,073 (GRCm39) nonsense probably null
R4870:Simc1 UTSW 13 54,687,576 (GRCm39) missense probably null 0.73
R4959:Simc1 UTSW 13 54,673,131 (GRCm39) missense possibly damaging 0.49
R5104:Simc1 UTSW 13 54,674,175 (GRCm39) missense probably benign 0.15
R5217:Simc1 UTSW 13 54,687,709 (GRCm39) unclassified probably benign
R5319:Simc1 UTSW 13 54,672,795 (GRCm39) missense probably benign 0.00
R5635:Simc1 UTSW 13 54,673,217 (GRCm39) missense probably benign 0.00
R5660:Simc1 UTSW 13 54,694,902 (GRCm39) missense probably benign 0.01
R5900:Simc1 UTSW 13 54,694,837 (GRCm39) missense probably damaging 1.00
R5963:Simc1 UTSW 13 54,673,632 (GRCm39) missense possibly damaging 0.84
R6036:Simc1 UTSW 13 54,672,434 (GRCm39) missense probably benign 0.01
R6036:Simc1 UTSW 13 54,672,434 (GRCm39) missense probably benign 0.01
R6089:Simc1 UTSW 13 54,676,303 (GRCm39) missense probably benign 0.30
R6271:Simc1 UTSW 13 54,687,537 (GRCm39) missense probably damaging 1.00
R6364:Simc1 UTSW 13 54,672,413 (GRCm39) nonsense probably null
R6434:Simc1 UTSW 13 54,674,477 (GRCm39) missense probably benign 0.22
R6627:Simc1 UTSW 13 54,694,887 (GRCm39) missense probably damaging 1.00
R6758:Simc1 UTSW 13 54,673,361 (GRCm39) missense possibly damaging 0.57
R7236:Simc1 UTSW 13 54,672,609 (GRCm39) missense probably benign 0.03
R7297:Simc1 UTSW 13 54,673,048 (GRCm39) intron probably benign
R7359:Simc1 UTSW 13 54,651,731 (GRCm39) missense unknown
R7362:Simc1 UTSW 13 54,687,517 (GRCm39) missense probably damaging 1.00
R7490:Simc1 UTSW 13 54,672,162 (GRCm39) missense possibly damaging 0.84
R7792:Simc1 UTSW 13 54,695,143 (GRCm39) missense probably damaging 1.00
R7855:Simc1 UTSW 13 54,672,645 (GRCm39) missense probably benign 0.03
R7869:Simc1 UTSW 13 54,651,713 (GRCm39) missense unknown
R8293:Simc1 UTSW 13 54,674,359 (GRCm39) missense probably damaging 0.98
R8330:Simc1 UTSW 13 54,673,177 (GRCm39) intron probably benign
R8692:Simc1 UTSW 13 54,673,193 (GRCm39) missense probably benign 0.16
R9087:Simc1 UTSW 13 54,672,147 (GRCm39) missense probably benign 0.03
R9449:Simc1 UTSW 13 54,674,192 (GRCm39) missense probably benign 0.15
R9732:Simc1 UTSW 13 54,673,177 (GRCm39) intron probably benign
X0023:Simc1 UTSW 13 54,689,344 (GRCm39) missense probably damaging 0.98
Z1177:Simc1 UTSW 13 54,672,258 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGTCTTGTGTCCTGTAGCCG -3'
(R):5'- GGTTTGGTCCTATGATGTTCCTAAC -3'

Sequencing Primer
(F):5'- ACCTACGGAGCTCAGTGATTGATC -3'
(R):5'- AACTACTGTTCATACTTCAGGGC -3'
Posted On 2018-04-02