Incidental Mutation 'IGL03051:Simc1'
ID 409071
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Simc1
Ensembl Gene ENSMUSG00000043183
Gene Name SUMO-interacting motifs containing 1
Synonyms 4732471D19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL03051
Quality Score
Status
Chromosome 13
Chromosomal Location 54651592-54699103 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54674036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 795 (S795P)
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 probably benign
Transcript: ENSMUST00000121401
AA Change: S795P

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: S795P

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: ENSMUST00000123852
Predicted Effect probably benign
Transcript: ENSMUST00000138869
SMART Domains Protein: ENSMUSP00000124474
Gene: ENSMUSG00000043183

DomainStartEndE-ValueType
low complexity region 11 34 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150011
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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G T 6: 86,964,283 (GRCm39) probably benign Het
Abhd14a A T 9: 106,321,128 (GRCm39) F76I possibly damaging Het
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Akap13 T A 7: 75,260,233 (GRCm39) C149* probably null Het
Appbp2 A T 11: 85,082,565 (GRCm39) D555E possibly damaging Het
Arhgap25 T C 6: 87,472,896 (GRCm39) Q87R probably null Het
Baz1b T A 5: 135,246,079 (GRCm39) N509K probably benign Het
Ccn4 T A 15: 66,778,399 (GRCm39) C73* probably null Het
Ces5a C A 8: 94,255,226 (GRCm39) G156C probably damaging Het
Chtf18 G A 17: 25,939,938 (GRCm39) R723W probably damaging Het
Clec4e A G 6: 123,266,692 (GRCm39) S6P probably benign Het
Dennd4a A G 9: 64,769,696 (GRCm39) I468V probably damaging Het
Epb41l4a A T 18: 34,007,825 (GRCm39) Y233N probably damaging Het
Fam210b C T 2: 172,194,612 (GRCm39) H155Y probably benign Het
Frmd4b A T 6: 97,272,943 (GRCm39) C770* probably null Het
Gpa33 A G 1: 165,992,790 (GRCm39) H301R probably benign Het
Gpr39 T A 1: 125,605,485 (GRCm39) C138S probably damaging Het
Gtf2i T A 5: 134,271,768 (GRCm39) K858* probably null Het
Ighv7-1 A T 12: 113,860,576 (GRCm39) probably benign Het
Iglv1 T C 16: 18,903,973 (GRCm39) T49A possibly damaging Het
Kif17 A C 4: 138,016,565 (GRCm39) D416A probably damaging Het
Mib2 T C 4: 155,741,747 (GRCm39) T431A probably damaging Het
Mpz G A 1: 170,986,380 (GRCm39) R98H probably damaging Het
Naa16 T C 14: 79,606,522 (GRCm39) E337G probably benign Het
Odam G A 5: 88,040,335 (GRCm39) probably benign Het
Or1e1f T A 11: 73,855,860 (GRCm39) L142H probably benign Het
Parp2 T C 14: 51,056,805 (GRCm39) probably benign Het
Pcdh7 T G 5: 58,286,415 (GRCm39) S1164A probably damaging Het
Pkp4 G T 2: 59,142,106 (GRCm39) A470S probably benign Het
Plin4 A T 17: 56,412,417 (GRCm39) M538K possibly damaging Het
Prex2 T C 1: 11,212,889 (GRCm39) V624A probably damaging Het
Rps6ka5 A C 12: 100,582,250 (GRCm39) probably null Het
Slc35b4 A T 6: 34,137,406 (GRCm39) probably null Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Syt14 T C 1: 192,615,528 (GRCm39) N486S probably benign Het
Trim59 T C 3: 68,944,206 (GRCm39) N378S probably benign Het
Wdr17 T A 8: 55,104,349 (GRCm39) D908V probably damaging Het
Wdr74 A G 19: 8,716,875 (GRCm39) 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
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
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
Posted On 2016-08-02