Incidental Mutation 'IGL00508:Simc1'
ID 5937
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 # IGL00508
Quality Score
Status
Chromosome 13
Chromosomal Location 54651592-54699103 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 54672989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 446 (Q446K)
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: Q446K

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: Q446K

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A C 13: 81,654,306 (GRCm39) D2188E probably damaging Het
Atrx A G X: 104,867,405 (GRCm39) S2026P probably damaging Het
Cacna1b A C 2: 24,547,301 (GRCm39) probably null Het
Cfap46 C T 7: 139,240,605 (GRCm39) S56N probably damaging Het
Cfap57 C T 4: 118,438,367 (GRCm39) probably null Het
Ckap5 T G 2: 91,436,601 (GRCm39) V1567G probably damaging Het
Cyp2c38 A T 19: 39,449,169 (GRCm39) Y61* probably null Het
D130052B06Rik A G 11: 33,549,402 (GRCm39) E7G unknown Het
Dhx38 A G 8: 110,283,566 (GRCm39) L527P possibly damaging Het
Dnaaf5 A G 5: 139,163,701 (GRCm39) N653D probably benign Het
Dnah8 T G 17: 31,074,904 (GRCm39) M4541R probably damaging Het
Dpyd A T 3: 118,858,636 (GRCm39) T617S probably benign Het
Fpr2 A T 17: 18,113,034 (GRCm39) N10I probably damaging Het
Frmd4a A T 2: 4,599,545 (GRCm39) K524* probably null Het
Gpr45 C T 1: 43,071,452 (GRCm39) P32S possibly damaging Het
H2-Eb2 A T 17: 34,553,341 (GRCm39) I176F probably damaging Het
Hcrtr1 T A 4: 130,031,062 (GRCm39) N74I probably damaging Het
Ifi47 C T 11: 48,986,241 (GRCm39) Q3* probably null Het
Krt8 T A 15: 101,906,460 (GRCm39) M350L probably benign Het
Lilra6 A G 7: 3,914,553 (GRCm39) S533P probably benign Het
Map1b A T 13: 99,565,741 (GRCm39) S2327T unknown Het
Mcoln3 T A 3: 145,839,683 (GRCm39) I345N probably damaging Het
Mettl3 C A 14: 52,532,436 (GRCm39) probably benign Het
Mgat4a G A 1: 37,488,204 (GRCm39) R472* probably null Het
Micall1 A G 15: 79,014,768 (GRCm39) K715E probably damaging Het
Pak1 G T 7: 97,503,775 (GRCm39) G37C probably benign Het
Pomt2 T G 12: 87,166,401 (GRCm39) H426P probably damaging Het
Pou2f3 G A 9: 43,051,258 (GRCm39) P155S probably benign Het
Psg25 A G 7: 18,263,656 (GRCm39) Y56H probably benign Het
Rab9 G T X: 165,240,860 (GRCm39) Y150* probably null Het
Rhox2g T A X: 36,824,463 (GRCm39) N152I probably damaging Het
Sema6d T C 2: 124,498,844 (GRCm39) probably benign Het
Svs5 G T 2: 164,078,962 (GRCm39) T315K possibly damaging Het
Syt9 C T 7: 107,024,574 (GRCm39) R156* probably null Het
Tmem260 A T 14: 48,746,578 (GRCm39) Y618F probably damaging Het
Wdr44 A G X: 23,666,783 (GRCm39) I719V possibly damaging Het
Zfp518a T G 19: 40,901,914 (GRCm39) I614M probably damaging Het
Other mutations in Simc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20