Incidental Mutation 'IGL00392:Carmil1'
ID 4331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Carmil1
Ensembl Gene ENSMUSG00000021338
Gene Name capping protein regulator and myosin 1 linker 1
Synonyms Carmil, Lrrc16a, 1110037D04Rik, Lrrc16
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00392
Quality Score
Status
Chromosome 13
Chromosomal Location 24196327-24464778 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24278474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 165 (T165I)
Ref Sequence ENSEMBL: ENSMUSP00000126522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072889] [ENSMUST00000110398] [ENSMUST00000125901]
AlphaFold Q6EDY6
Predicted Effect probably damaging
Transcript: ENSMUST00000072889
AA Change: T575I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338
AA Change: T575I

DomainStartEndE-ValueType
low complexity region 19 37 N/A INTRINSIC
LRR 245 272 2.42e1 SMART
LRR 275 302 1.04e1 SMART
LRR 304 331 3.1e0 SMART
LRR 336 363 5.66e1 SMART
Blast:LRR 423 450 9e-8 BLAST
Blast:LRR 451 484 7e-9 BLAST
LRR 574 601 8.81e-2 SMART
Blast:LRR 602 629 6e-10 BLAST
low complexity region 745 758 N/A INTRINSIC
Pfam:CARMIL_C 790 1083 1.1e-101 PFAM
low complexity region 1131 1147 N/A INTRINSIC
low complexity region 1245 1251 N/A INTRINSIC
low complexity region 1253 1268 N/A INTRINSIC
low complexity region 1287 1296 N/A INTRINSIC
low complexity region 1317 1332 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110398
AA Change: T571I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
AA Change: T571I

DomainStartEndE-ValueType
low complexity region 19 37 N/A INTRINSIC
LRR 245 272 2.42e1 SMART
LRR 275 302 1.04e1 SMART
LRR 304 331 3.1e0 SMART
LRR 336 363 5.66e1 SMART
Blast:LRR 423 450 9e-8 BLAST
LRR 451 480 3.15e1 SMART
Pfam:LRR_6 481 507 1.9e-2 PFAM
LRR 570 597 8.81e-2 SMART
Blast:LRR 598 625 6e-10 BLAST
low complexity region 741 754 N/A INTRINSIC
low complexity region 879 888 N/A INTRINSIC
PDB:3LK3|T 964 1076 1e-56 PDB
low complexity region 1127 1143 N/A INTRINSIC
low complexity region 1241 1247 N/A INTRINSIC
low complexity region 1249 1264 N/A INTRINSIC
low complexity region 1283 1292 N/A INTRINSIC
low complexity region 1313 1325 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000125901
AA Change: T165I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126522
Gene: ENSMUSG00000021338
AA Change: T165I

DomainStartEndE-ValueType
Blast:LRR 13 40 5e-8 BLAST
Blast:LRR 41 74 4e-9 BLAST
Pfam:LRR_6 75 101 4.4e-2 PFAM
Pfam:LRR_6 164 187 1.6e-3 PFAM
Blast:LRR 192 219 7e-10 BLAST
low complexity region 335 348 N/A INTRINSIC
low complexity region 473 482 N/A INTRINSIC
PDB:3LK3|T 564 676 4e-57 PDB
low complexity region 727 743 N/A INTRINSIC
low complexity region 841 847 N/A INTRINSIC
low complexity region 849 864 N/A INTRINSIC
low complexity region 883 892 N/A INTRINSIC
low complexity region 913 925 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142171
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 T C 7: 80,727,757 (GRCm39) Y296H possibly damaging Het
Armh3 T G 19: 45,928,927 (GRCm39) H389P probably benign Het
Brca2 A G 5: 150,464,705 (GRCm39) T1490A probably benign Het
Btaf1 A T 19: 36,987,102 (GRCm39) D1732V probably damaging Het
Capzb T C 4: 139,016,258 (GRCm39) I273T probably benign Het
Cc2d2a A G 5: 43,881,722 (GRCm39) probably benign Het
Cdh22 A G 2: 164,954,521 (GRCm39) Y667H possibly damaging Het
Celsr1 T A 15: 85,815,546 (GRCm39) Q1823L probably benign Het
Cfap210 T C 2: 69,602,328 (GRCm39) H361R probably benign Het
Cntrl T C 2: 35,027,826 (GRCm39) probably benign Het
Dhx15 A T 5: 52,314,924 (GRCm39) probably benign Het
Dip2c A T 13: 9,543,144 (GRCm39) D30V probably damaging Het
Dyrk2 T C 10: 118,695,749 (GRCm39) D503G probably damaging Het
Enpp1 T A 10: 24,521,325 (GRCm39) I801F possibly damaging Het
Fnbp4 A C 2: 90,581,966 (GRCm39) probably benign Het
Klk1b5 T A 7: 43,865,928 (GRCm39) W2R probably benign Het
Lama2 T C 10: 27,064,261 (GRCm39) K1240R probably benign Het
Matn2 A G 15: 34,403,002 (GRCm39) N409S probably benign Het
Mep1b A T 18: 21,217,243 (GRCm39) K121* probably null Het
Mettl26 T C 17: 26,095,098 (GRCm39) probably null Het
Myh7 T C 14: 55,224,845 (GRCm39) E574G probably damaging Het
Nfkbie G A 17: 45,871,139 (GRCm39) probably null Het
Nlrc4 T C 17: 74,753,529 (GRCm39) R285G probably benign Het
Pax8 T C 2: 24,333,144 (GRCm39) Y66C probably damaging Het
Plxna2 A G 1: 194,482,876 (GRCm39) D1523G probably damaging Het
Pou2f1 A G 1: 165,724,159 (GRCm39) probably benign Het
Prom1 A G 5: 44,164,363 (GRCm39) probably null Het
Ptk6 T C 2: 180,837,611 (GRCm39) D436G probably benign Het
Robo4 T A 9: 37,319,525 (GRCm39) F592I probably damaging Het
Sec24c C A 14: 20,743,271 (GRCm39) S964R probably benign Het
Sgcb G T 5: 73,793,021 (GRCm39) N260K possibly damaging Het
Smarcd2 T C 11: 106,156,730 (GRCm39) D221G probably damaging Het
Unc13b C T 4: 43,240,285 (GRCm39) R3569W probably damaging Het
Zfpl1 C A 19: 6,131,137 (GRCm39) R285L possibly damaging Het
Other mutations in Carmil1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Carmil1 APN 13 24,295,821 (GRCm39) missense possibly damaging 0.68
IGL00943:Carmil1 APN 13 24,295,869 (GRCm39) missense possibly damaging 0.48
IGL01375:Carmil1 APN 13 24,278,454 (GRCm39) missense possibly damaging 0.88
IGL02043:Carmil1 APN 13 24,208,299 (GRCm39) unclassified probably benign
IGL02122:Carmil1 APN 13 24,220,541 (GRCm39) missense possibly damaging 0.95
IGL02178:Carmil1 APN 13 24,278,386 (GRCm39) missense probably damaging 1.00
IGL02264:Carmil1 APN 13 24,259,699 (GRCm39) missense possibly damaging 0.95
IGL02269:Carmil1 APN 13 24,339,393 (GRCm39) nonsense probably null
IGL02546:Carmil1 APN 13 24,299,482 (GRCm39) missense probably damaging 0.98
IGL02740:Carmil1 APN 13 24,278,501 (GRCm39) missense probably damaging 0.98
IGL02876:Carmil1 APN 13 24,338,651 (GRCm39) unclassified probably benign
IGL02976:Carmil1 APN 13 24,276,534 (GRCm39) missense possibly damaging 0.96
IGL03012:Carmil1 APN 13 24,220,355 (GRCm39) missense probably benign 0.19
IGL03107:Carmil1 APN 13 24,278,438 (GRCm39) missense probably damaging 0.99
H8562:Carmil1 UTSW 13 24,248,630 (GRCm39) missense probably benign 0.00
R0085:Carmil1 UTSW 13 24,209,850 (GRCm39) missense probably benign
R0119:Carmil1 UTSW 13 24,266,003 (GRCm39) missense probably damaging 0.98
R0166:Carmil1 UTSW 13 24,283,032 (GRCm39) missense probably damaging 1.00
R0299:Carmil1 UTSW 13 24,266,003 (GRCm39) missense probably damaging 0.98
R0304:Carmil1 UTSW 13 24,323,324 (GRCm39) missense probably damaging 0.99
R0335:Carmil1 UTSW 13 24,257,966 (GRCm39) missense probably damaging 1.00
R0369:Carmil1 UTSW 13 24,266,003 (GRCm39) missense probably damaging 0.98
R0462:Carmil1 UTSW 13 24,206,494 (GRCm39) missense probably benign 0.01
R1203:Carmil1 UTSW 13 24,282,989 (GRCm39) missense probably damaging 1.00
R1540:Carmil1 UTSW 13 24,283,037 (GRCm39) missense possibly damaging 0.92
R1730:Carmil1 UTSW 13 24,225,672 (GRCm39) missense probably damaging 1.00
R1770:Carmil1 UTSW 13 24,357,657 (GRCm39) missense probably damaging 1.00
R1831:Carmil1 UTSW 13 24,348,862 (GRCm39) missense probably benign 0.00
R1893:Carmil1 UTSW 13 24,208,446 (GRCm39) missense possibly damaging 0.72
R2099:Carmil1 UTSW 13 24,357,650 (GRCm39) missense probably benign 0.00
R2153:Carmil1 UTSW 13 24,325,656 (GRCm39) missense probably damaging 0.97
R2296:Carmil1 UTSW 13 24,299,492 (GRCm39) missense probably damaging 1.00
R2869:Carmil1 UTSW 13 24,229,051 (GRCm39) synonymous silent
R2872:Carmil1 UTSW 13 24,229,051 (GRCm39) synonymous silent
R3113:Carmil1 UTSW 13 24,253,740 (GRCm39) missense probably benign 0.22
R3508:Carmil1 UTSW 13 24,203,659 (GRCm39) utr 3 prime probably benign
R3780:Carmil1 UTSW 13 24,321,152 (GRCm39) missense probably damaging 0.99
R3954:Carmil1 UTSW 13 24,197,390 (GRCm39) missense probably benign 0.00
R4027:Carmil1 UTSW 13 24,251,206 (GRCm39) splice site probably benign
R4086:Carmil1 UTSW 13 24,208,444 (GRCm39) missense possibly damaging 0.56
R4647:Carmil1 UTSW 13 24,321,162 (GRCm39) missense probably damaging 1.00
R4792:Carmil1 UTSW 13 24,325,659 (GRCm39) missense possibly damaging 0.96
R4792:Carmil1 UTSW 13 24,251,173 (GRCm39) missense probably damaging 1.00
R5012:Carmil1 UTSW 13 24,208,403 (GRCm39) missense possibly damaging 0.81
R5166:Carmil1 UTSW 13 24,338,966 (GRCm39) critical splice donor site probably null
R5199:Carmil1 UTSW 13 24,295,853 (GRCm39) missense probably damaging 1.00
R5330:Carmil1 UTSW 13 24,209,929 (GRCm39) splice site probably null
R5472:Carmil1 UTSW 13 24,339,454 (GRCm39) missense probably damaging 0.97
R5478:Carmil1 UTSW 13 24,296,028 (GRCm39) missense probably damaging 1.00
R5496:Carmil1 UTSW 13 24,339,433 (GRCm39) missense probably damaging 1.00
R5775:Carmil1 UTSW 13 24,460,520 (GRCm39) missense probably benign
R5789:Carmil1 UTSW 13 24,305,831 (GRCm39) missense probably damaging 1.00
R5794:Carmil1 UTSW 13 24,276,533 (GRCm39) missense probably damaging 1.00
R5977:Carmil1 UTSW 13 24,253,719 (GRCm39) missense probably damaging 1.00
R6127:Carmil1 UTSW 13 24,220,335 (GRCm39) missense probably benign 0.03
R6128:Carmil1 UTSW 13 24,197,177 (GRCm39) nonsense probably null
R6403:Carmil1 UTSW 13 24,265,950 (GRCm39) missense probably damaging 1.00
R6450:Carmil1 UTSW 13 24,220,547 (GRCm39) missense probably damaging 0.98
R6451:Carmil1 UTSW 13 24,276,541 (GRCm39) nonsense probably null
R6684:Carmil1 UTSW 13 24,206,525 (GRCm39) missense unknown
R6891:Carmil1 UTSW 13 24,325,706 (GRCm39) missense probably benign 0.13
R6902:Carmil1 UTSW 13 24,299,528 (GRCm39) missense possibly damaging 0.79
R6924:Carmil1 UTSW 13 24,259,667 (GRCm39) nonsense probably null
R6946:Carmil1 UTSW 13 24,299,528 (GRCm39) missense possibly damaging 0.79
R7038:Carmil1 UTSW 13 24,323,318 (GRCm39) missense probably damaging 1.00
R7179:Carmil1 UTSW 13 24,204,052 (GRCm39) missense probably benign 0.00
R7282:Carmil1 UTSW 13 24,197,387 (GRCm39) missense probably benign
R7286:Carmil1 UTSW 13 24,197,377 (GRCm39) missense probably damaging 0.96
R7397:Carmil1 UTSW 13 24,228,294 (GRCm39) missense probably damaging 0.99
R7412:Carmil1 UTSW 13 24,282,793 (GRCm39) missense possibly damaging 0.50
R7611:Carmil1 UTSW 13 24,197,315 (GRCm39) missense probably benign 0.30
R7642:Carmil1 UTSW 13 24,251,189 (GRCm39) missense probably benign 0.12
R7827:Carmil1 UTSW 13 24,220,421 (GRCm39) missense probably benign 0.00
R7890:Carmil1 UTSW 13 24,197,215 (GRCm39) missense
R8014:Carmil1 UTSW 13 24,220,304 (GRCm39) missense possibly damaging 0.71
R8068:Carmil1 UTSW 13 24,259,711 (GRCm39) missense probably benign 0.00
R8214:Carmil1 UTSW 13 24,228,215 (GRCm39) missense probably damaging 0.99
R8247:Carmil1 UTSW 13 24,282,998 (GRCm39) missense probably damaging 1.00
R8272:Carmil1 UTSW 13 24,220,562 (GRCm39) missense probably benign
R8318:Carmil1 UTSW 13 24,220,442 (GRCm39) missense probably benign
R8361:Carmil1 UTSW 13 24,251,113 (GRCm39) critical splice donor site probably null
R8469:Carmil1 UTSW 13 24,296,011 (GRCm39) missense probably damaging 1.00
R8558:Carmil1 UTSW 13 24,209,863 (GRCm39) missense probably benign
R8698:Carmil1 UTSW 13 24,220,229 (GRCm39) missense probably damaging 1.00
R8722:Carmil1 UTSW 13 24,220,568 (GRCm39) missense probably benign 0.16
R8836:Carmil1 UTSW 13 24,339,029 (GRCm39) missense probably damaging 1.00
R8915:Carmil1 UTSW 13 24,325,709 (GRCm39) missense probably damaging 0.99
R8931:Carmil1 UTSW 13 24,338,704 (GRCm39) missense probably benign 0.03
R8932:Carmil1 UTSW 13 24,197,179 (GRCm39) missense
R9004:Carmil1 UTSW 13 24,225,662 (GRCm39) missense probably damaging 0.98
R9041:Carmil1 UTSW 13 24,282,793 (GRCm39) missense possibly damaging 0.50
R9103:Carmil1 UTSW 13 24,295,836 (GRCm39) missense probably benign 0.01
R9224:Carmil1 UTSW 13 24,292,512 (GRCm39) missense probably damaging 0.98
R9428:Carmil1 UTSW 13 24,295,834 (GRCm39) nonsense probably null
R9460:Carmil1 UTSW 13 24,253,750 (GRCm39) missense probably damaging 1.00
R9502:Carmil1 UTSW 13 24,323,357 (GRCm39) missense probably benign
R9548:Carmil1 UTSW 13 24,460,516 (GRCm39) missense probably damaging 1.00
X0025:Carmil1 UTSW 13 24,283,026 (GRCm39) missense possibly damaging 0.47
Z1088:Carmil1 UTSW 13 24,228,165 (GRCm39) nonsense probably null
Posted On 2012-04-20