Incidental Mutation 'IGL02740:Carmil1'
ID305838
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Carmil1
Ensembl Gene ENSMUSG00000021338
Gene Namecapping protein regulator and myosin 1 linker 1
Synonyms1110037D04Rik, Lrrc16, Lrrc16a, Carmil
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.215) question?
Stock #IGL02740
Quality Score
Status
Chromosome13
Chromosomal Location24012344-24280795 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24094518 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 156 (I156T)
Ref Sequence ENSEMBL: ENSMUSP00000126522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072889] [ENSMUST00000110398] [ENSMUST00000125901]
Predicted Effect probably damaging
Transcript: ENSMUST00000072889
AA Change: I566T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338
AA Change: I566T

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: I562T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
AA Change: I562T

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: I156T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126522
Gene: ENSMUSG00000021338
AA Change: I156T

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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 C T 1: 59,169,919 E1494K probably benign Het
Antxr2 A G 5: 98,030,392 probably benign Het
Arhgap23 A C 11: 97,475,017 K998Q probably damaging Het
Bap1 A G 14: 31,256,772 N47D possibly damaging Het
Ccdc141 T C 2: 77,054,609 T563A probably benign Het
Cct7 T C 6: 85,468,270 F501S probably benign Het
Cd59b A G 2: 104,078,897 I8V probably benign Het
Cep135 T C 5: 76,638,268 probably null Het
Cep170 T G 1: 176,793,600 T4P probably damaging Het
Chaf1a G T 17: 56,067,500 G896W probably damaging Het
Cpt1b A T 15: 89,424,332 L131Q probably damaging Het
Dcaf13 C T 15: 39,145,100 R366* probably null Het
Ddr2 A T 1: 169,984,945 N659K probably damaging Het
Dmrt2 C A 19: 25,678,473 L479I possibly damaging Het
Dnah10 A G 5: 124,826,863 probably benign Het
Dsg3 C T 18: 20,527,708 T368M possibly damaging Het
Dspp C A 5: 104,177,238 S489* probably null Het
Eed A C 7: 89,972,256 V112G possibly damaging Het
Ehmt1 T A 2: 24,815,839 probably benign Het
Elavl3 T C 9: 22,036,379 D89G probably benign Het
Ercc5 T C 1: 44,167,492 S522P probably benign Het
Esrrg T C 1: 188,198,741 L320P probably benign Het
Gadl1 T A 9: 116,006,561 Y352* probably null Het
Gemin5 G A 11: 58,151,564 A477V probably damaging Het
Gm3086 A T 12: 69,969,321 probably benign Het
Gm8082 C T 14: 42,989,113 probably benign Het
Gpr180 T C 14: 118,139,749 L54P probably damaging Het
Gpsm1 G A 2: 26,340,573 V512M probably benign Het
Ighv5-4 A G 12: 113,597,480 S107P probably damaging Het
Irak4 T C 15: 94,567,044 *460Q probably null Het
Nfkbiz G T 16: 55,817,954 T381N probably benign Het
Olfr1167 T A 2: 88,149,257 H254L probably damaging Het
Olfr384 A T 11: 73,602,831 N84Y probably benign Het
Olfr910 T C 9: 38,538,930 F12L probably damaging Het
Olfr937 T C 9: 39,060,289 I126V probably benign Het
Pou2f1 G A 1: 165,883,116 Q523* probably null Het
Ptcra A G 17: 46,758,547 S133P probably damaging Het
Ptgfrn A T 3: 101,072,937 D362E possibly damaging Het
Rbm33 A T 5: 28,331,123 D19V probably damaging Het
Rnf4 T A 5: 34,349,554 V74D possibly damaging Het
Rprd1b A G 2: 158,047,979 D7G probably damaging Het
Rrp1b A G 17: 32,059,331 T659A probably damaging Het
Scaf11 T C 15: 96,419,002 N894D probably benign Het
Scn1a G A 2: 66,324,762 R618C probably damaging Het
Scn1a A T 2: 66,318,077 D1041E probably benign Het
Slc43a1 G T 2: 84,859,750 A424S probably damaging Het
Sprtn T C 8: 124,898,303 L49P probably damaging Het
Sv2a G T 3: 96,185,407 R141L possibly damaging Het
Thsd7b C T 1: 129,613,127 S246F probably damaging Het
Tmem117 A T 15: 94,714,982 D133V probably benign Het
Tnn A T 1: 160,140,777 probably benign Het
Triobp G A 15: 78,966,689 V348I probably benign Het
Trps1 A T 15: 50,846,539 D134E probably damaging Het
Ttn T C 2: 76,767,818 I19584V probably benign Het
Uqcrfs1 T C 13: 30,541,023 H178R probably damaging Het
Ush2a A T 1: 188,648,388 Q2298L possibly damaging Het
Vmn2r67 A G 7: 85,136,610 I729T probably damaging Het
Vmn2r79 A T 7: 87,004,158 M544L probably benign Het
Vps41 T A 13: 18,838,680 L404Q probably damaging Het
Xrcc5 T G 1: 72,340,081 probably null Het
Zfp735 A G 11: 73,710,586 K119E possibly damaging Het
Other mutations in Carmil1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Carmil1 APN 13 24111838 missense possibly damaging 0.68
IGL00392:Carmil1 APN 13 24094491 missense probably damaging 1.00
IGL00943:Carmil1 APN 13 24111886 missense possibly damaging 0.48
IGL01375:Carmil1 APN 13 24094471 missense possibly damaging 0.88
IGL02043:Carmil1 APN 13 24024316 unclassified probably benign
IGL02122:Carmil1 APN 13 24036558 missense possibly damaging 0.95
IGL02178:Carmil1 APN 13 24094403 missense probably damaging 1.00
IGL02264:Carmil1 APN 13 24075716 missense possibly damaging 0.95
IGL02269:Carmil1 APN 13 24155410 nonsense probably null
IGL02546:Carmil1 APN 13 24115499 missense probably damaging 0.98
IGL02876:Carmil1 APN 13 24154668 unclassified probably benign
IGL02976:Carmil1 APN 13 24092551 missense possibly damaging 0.96
IGL03012:Carmil1 APN 13 24036372 missense probably benign 0.19
IGL03107:Carmil1 APN 13 24094455 missense probably damaging 0.99
H8562:Carmil1 UTSW 13 24064647 missense probably benign 0.00
R0085:Carmil1 UTSW 13 24025867 missense probably benign
R0119:Carmil1 UTSW 13 24082020 missense probably damaging 0.98
R0166:Carmil1 UTSW 13 24099049 missense probably damaging 1.00
R0299:Carmil1 UTSW 13 24082020 missense probably damaging 0.98
R0304:Carmil1 UTSW 13 24139341 missense probably damaging 0.99
R0335:Carmil1 UTSW 13 24073983 missense probably damaging 1.00
R0369:Carmil1 UTSW 13 24082020 missense probably damaging 0.98
R0462:Carmil1 UTSW 13 24022511 missense probably benign 0.01
R1203:Carmil1 UTSW 13 24099006 missense probably damaging 1.00
R1540:Carmil1 UTSW 13 24099054 missense possibly damaging 0.92
R1730:Carmil1 UTSW 13 24041689 missense probably damaging 1.00
R1770:Carmil1 UTSW 13 24173674 missense probably damaging 1.00
R1831:Carmil1 UTSW 13 24164879 missense probably benign 0.00
R1893:Carmil1 UTSW 13 24024463 missense possibly damaging 0.72
R2099:Carmil1 UTSW 13 24173667 missense probably benign 0.00
R2153:Carmil1 UTSW 13 24141673 missense probably damaging 0.97
R2296:Carmil1 UTSW 13 24115509 missense probably damaging 1.00
R2869:Carmil1 UTSW 13 24045068 synonymous silent
R2872:Carmil1 UTSW 13 24045068 synonymous silent
R3113:Carmil1 UTSW 13 24069757 missense probably benign 0.22
R3508:Carmil1 UTSW 13 24019676 utr 3 prime probably benign
R3780:Carmil1 UTSW 13 24137169 missense probably damaging 0.99
R3954:Carmil1 UTSW 13 24013407 missense probably benign 0.00
R4027:Carmil1 UTSW 13 24067223 splice site probably benign
R4086:Carmil1 UTSW 13 24024461 missense possibly damaging 0.56
R4647:Carmil1 UTSW 13 24137179 missense probably damaging 1.00
R4792:Carmil1 UTSW 13 24067190 missense probably damaging 1.00
R4792:Carmil1 UTSW 13 24141676 missense possibly damaging 0.96
R5012:Carmil1 UTSW 13 24024420 missense possibly damaging 0.81
R5166:Carmil1 UTSW 13 24154983 critical splice donor site probably null
R5199:Carmil1 UTSW 13 24111870 missense probably damaging 1.00
R5330:Carmil1 UTSW 13 24025946 splice site probably null
R5472:Carmil1 UTSW 13 24155471 missense probably damaging 0.97
R5478:Carmil1 UTSW 13 24112045 missense probably damaging 1.00
R5496:Carmil1 UTSW 13 24155450 missense probably damaging 1.00
R5775:Carmil1 UTSW 13 24276537 missense probably benign
R5789:Carmil1 UTSW 13 24121848 missense probably damaging 1.00
R5794:Carmil1 UTSW 13 24092550 missense probably damaging 1.00
R5977:Carmil1 UTSW 13 24069736 missense probably damaging 1.00
R6127:Carmil1 UTSW 13 24036352 missense probably benign 0.03
R6128:Carmil1 UTSW 13 24013194 nonsense probably null
R6403:Carmil1 UTSW 13 24081967 missense probably damaging 1.00
R6450:Carmil1 UTSW 13 24036564 missense probably damaging 0.98
R6451:Carmil1 UTSW 13 24092558 nonsense probably null
R6684:Carmil1 UTSW 13 24022542 missense unknown
R6891:Carmil1 UTSW 13 24141723 missense probably benign 0.13
R6902:Carmil1 UTSW 13 24115545 missense possibly damaging 0.79
R6924:Carmil1 UTSW 13 24075684 nonsense probably null
R6946:Carmil1 UTSW 13 24115545 missense possibly damaging 0.79
R7038:Carmil1 UTSW 13 24139335 missense probably damaging 1.00
X0025:Carmil1 UTSW 13 24099043 missense possibly damaging 0.47
Z1088:Carmil1 UTSW 13 24044182 nonsense probably null
Posted On2015-04-16