Incidental Mutation 'R7490:Simc1'
ID 580703
Institutional Source Beutler Lab
Gene Symbol Simc1
Ensembl Gene ENSMUSG00000043183
Gene Name SUMO-interacting motifs containing 1
Synonyms 4732471D19Rik
MMRRC Submission 045564-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R7490 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 54651592-54699103 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 54672162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 170 (L170R)
Ref Sequence ENSEMBL: ENSMUSP00000113676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118072] [ENSMUST00000121401] [ENSMUST00000138869] [ENSMUST00000159721]
AlphaFold E9Q6E9
Predicted Effect probably benign
Transcript: ENSMUST00000118072
SMART Domains Protein: ENSMUSP00000112376
Gene: ENSMUSG00000043183

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 possibly damaging
Transcript: ENSMUST00000121401
AA Change: L170R

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: L170R

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 probably benign
Transcript: ENSMUST00000138869
SMART Domains Protein: ENSMUSP00000124474
Gene: ENSMUSG00000043183

DomainStartEndE-ValueType
low complexity region 11 34 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159721
SMART Domains Protein: ENSMUSP00000124921
Gene: ENSMUSG00000043183

DomainStartEndE-ValueType
low complexity region 11 34 N/A INTRINSIC
low complexity region 66 78 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,202,389 (GRCm39) D132G possibly damaging Het
Abca5 T C 11: 110,168,437 (GRCm39) E1424G possibly damaging Het
Adamts4 C T 1: 171,084,169 (GRCm39) Q549* probably null Het
Adcy4 A G 14: 56,007,890 (GRCm39) I893T possibly damaging Het
Ago1 A T 4: 126,333,298 (GRCm39) *858R probably null Het
Ank2 T A 3: 126,752,538 (GRCm39) I393L probably damaging Het
Ankrd44 T C 1: 54,687,459 (GRCm39) T987A probably benign Het
Ap2a1 G T 7: 44,552,213 (GRCm39) N790K probably benign Het
Aqr A G 2: 113,989,349 (GRCm39) probably null Het
Arel1 G T 12: 84,988,685 (GRCm39) F21L probably damaging Het
Atp1a3 T C 7: 24,686,895 (GRCm39) D743G probably damaging Het
Atp9a A T 2: 168,517,272 (GRCm39) F354I probably benign Het
Bag6 A G 17: 35,359,818 (GRCm39) H259R unknown Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 TGGTT TGGTTCTGTGGTCACGGGTT 3: 95,795,498 (GRCm39) probably benign Het
BC028528 GTCACTGGTTCTGTG GTCACTGGTTCTGTGTTCACTGGTTCTGTG 3: 95,795,478 (GRCm39) probably benign Het
Bckdk T A 7: 127,504,145 (GRCm39) S15T unknown Het
C4b G T 17: 34,950,054 (GRCm39) Y1405* probably null Het
Camk4 G A 18: 33,072,598 (GRCm39) probably null Het
Car11 T A 7: 45,349,742 (GRCm39) W16R probably benign Het
Ccdc80 A C 16: 44,916,763 (GRCm39) E506D probably damaging Het
Chmp6 C T 11: 119,806,269 (GRCm39) Q32* probably null Het
Colq G A 14: 31,267,043 (GRCm39) P166S possibly damaging Het
Ctxn3 T C 18: 57,610,357 (GRCm39) M58T probably damaging Het
Cxcl3 A T 5: 90,934,516 (GRCm39) I93L unknown Het
Dnaaf2 T C 12: 69,244,380 (GRCm39) Y227C probably damaging Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Dnmt3a G A 12: 3,954,204 (GRCm39) G792D probably damaging Het
Dsg4 T A 18: 20,584,993 (GRCm39) probably null Het
Ecm2 C T 13: 49,683,818 (GRCm39) Q599* probably null Het
Fbxl13 T A 5: 21,728,058 (GRCm39) R550* probably null Het
Gm4302 A T 10: 100,177,445 (GRCm39) Q243L unknown Het
Gm7168 A T 17: 14,169,275 (GRCm39) Y214F probably benign Het
Gtf3c1 C T 7: 125,246,663 (GRCm39) D1549N probably damaging Het
Gtf3c5 A T 2: 28,461,153 (GRCm39) D320E probably damaging Het
Hivep1 T A 13: 42,311,126 (GRCm39) V1122D probably damaging Het
Ibtk T C 9: 85,600,987 (GRCm39) probably null Het
Irs1 T A 1: 82,264,985 (GRCm39) Q1077L probably damaging Het
Ivd A T 2: 118,707,373 (GRCm39) M296L possibly damaging Het
Katnal1 T C 5: 148,828,492 (GRCm39) D318G probably null Het
L3mbtl3 C T 10: 26,215,129 (GRCm39) V194I unknown Het
Malt1 C A 18: 65,581,282 (GRCm39) Q237K probably benign Het
Marchf11 C T 15: 26,311,187 (GRCm39) A221V possibly damaging Het
Nfe2l3 A G 6: 51,434,524 (GRCm39) I361M possibly damaging Het
Nrg1 G A 8: 32,308,682 (GRCm39) R493C probably damaging Het
Oga G A 19: 45,755,886 (GRCm39) R586* probably null Het
Or10g9b T A 9: 39,917,720 (GRCm39) H175L probably damaging Het
Or2f1 T C 6: 42,721,739 (GRCm39) I256T probably damaging Het
Or4c107 A C 2: 88,789,392 (GRCm39) Y194S probably benign Het
Or51g2 G A 7: 102,623,017 (GRCm39) P61S probably damaging Het
Or5ar1 A T 2: 85,671,307 (GRCm39) V276E probably damaging Het
Or7g16 A T 9: 18,727,229 (GRCm39) Y120* probably null Het
Orai3 C T 7: 127,372,799 (GRCm39) A100V possibly damaging Het
Oxsm T A 14: 16,241,066 (GRCm38) M328L probably benign Het
Pan2 T C 10: 128,144,309 (GRCm39) V186A probably benign Het
Pkd1l1 T A 11: 8,866,265 (GRCm39) D980V Het
Ppp1r16b T C 2: 158,603,388 (GRCm39) Y438H probably damaging Het
Ppp4c A T 7: 126,386,504 (GRCm39) H164Q probably damaging Het
Prl8a2 C A 13: 27,536,753 (GRCm39) T125K possibly damaging Het
Rasa2 T C 9: 96,448,175 (GRCm39) N494S possibly damaging Het
Rpl18a T C 8: 71,348,150 (GRCm39) D147G probably benign Het
Scg3 T C 9: 75,576,559 (GRCm39) D272G possibly damaging Het
Serpinb6c T A 13: 34,077,818 (GRCm39) D184V probably benign Het
Slx4 T C 16: 3,797,995 (GRCm39) E1463G possibly damaging Het
Stk31 T A 6: 49,416,166 (GRCm39) probably null Het
Tas1r3 A G 4: 155,946,480 (GRCm39) I375T probably damaging Het
Tbc1d24 T C 17: 24,401,494 (GRCm39) D405G probably damaging Het
Tcerg1l G A 7: 137,861,557 (GRCm39) P391S probably damaging Het
Tiam1 T C 16: 89,695,083 (GRCm39) S125G probably benign Het
Trim16 C A 11: 62,724,949 (GRCm39) H246N probably damaging Het
Tti1 T A 2: 157,837,392 (GRCm39) N896I probably damaging Het
Ubash3a A G 17: 31,451,286 (GRCm39) N395S probably damaging Het
Uggt1 T C 1: 36,203,589 (GRCm39) I1014V probably benign Het
Vmn1r30 T A 6: 58,412,214 (GRCm39) Q206L possibly damaging Het
Washc5 T A 15: 59,209,053 (GRCm39) N1057I probably benign Het
Xpo4 GGTATTAGCGGAGT GGT 14: 57,840,078 (GRCm39) probably null Het
Zcchc14 A T 8: 122,331,756 (GRCm39) S536T unknown 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
R6322:Simc1 UTSW 13 54,698,382 (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
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'- CCATGAAGATAGAGGCTCTCAG -3'
(R):5'- CAAAGCTTGAGGTGGGCATG -3'

Sequencing Primer
(F):5'- CTGCAGCACAGAGAATCA -3'
(R):5'- CATGAGGAAGCTCGTGGTG -3'
Posted On 2019-10-17