Incidental Mutation 'R0369:Carmil1'
ID 30393
Institutional Source Beutler Lab
Gene Symbol Carmil1
Ensembl Gene ENSMUSG00000021338
Gene Name capping protein regulator and myosin 1 linker 1
Synonyms Carmil, Lrrc16a, 1110037D04Rik, Lrrc16
MMRRC Submission 038575-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0369 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 24196327-24464778 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24266003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 253 (N253I)
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: N663I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338
AA Change: N663I

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: N659I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
AA Change: N659I

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: N253I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126522
Gene: ENSMUSG00000021338
AA Change: N253I

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
Meta Mutation Damage Score 0.0762 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 87.0%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik G A 9: 114,129,077 (GRCm39) noncoding transcript Het
Aadacl2 T A 3: 59,932,143 (GRCm39) Y219* probably null Het
Adamts13 C A 2: 26,895,198 (GRCm39) D1096E probably benign Het
Adamts16 T G 13: 70,927,671 (GRCm39) K523Q possibly damaging Het
Adcy2 A G 13: 68,820,019 (GRCm39) F740S probably benign Het
Ccdc97 T C 7: 25,413,833 (GRCm39) T283A probably damaging Het
Cmpk2 G T 12: 26,527,150 (GRCm39) E380* probably null Het
Csmd3 A G 15: 47,833,543 (GRCm39) I911T probably damaging Het
Cyp2c39 T C 19: 39,502,079 (GRCm39) L156P probably damaging Het
D7Ertd443e T C 7: 133,899,866 (GRCm39) I499V possibly damaging Het
Dhx58 A C 11: 100,592,374 (GRCm39) probably null Het
Dip2a C T 10: 76,134,621 (GRCm39) G390S probably damaging Het
Dusp10 A G 1: 183,801,253 (GRCm39) D340G probably damaging Het
Epha1 A T 6: 42,342,407 (GRCm39) C314S probably damaging Het
Exph5 A T 9: 53,284,602 (GRCm39) H561L probably benign Het
Fbxw26 A G 9: 109,552,780 (GRCm39) probably null Het
Foxc1 A C 13: 31,991,495 (GRCm39) N102T probably damaging Het
Fsip2 T C 2: 82,814,908 (GRCm39) I3547T probably benign Het
Gm5464 G T 14: 67,106,774 (GRCm39) probably benign Het
Gnptab C T 10: 88,269,456 (GRCm39) R720C possibly damaging Het
Greb1l T C 18: 10,469,375 (GRCm39) V130A possibly damaging Het
Hmg20a A T 9: 56,394,934 (GRCm39) D216V probably damaging Het
Hnrnpul2 C A 19: 8,801,777 (GRCm39) D328E probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ift172 T C 5: 31,410,985 (GRCm39) Y1691C probably damaging Het
Kremen2 T C 17: 23,961,784 (GRCm39) D241G probably benign Het
Meis2 T C 2: 115,893,897 (GRCm39) D5G possibly damaging Het
Mrps5 G A 2: 127,433,749 (GRCm39) R46K probably benign Het
Myh14 C T 7: 44,310,374 (GRCm39) V170M probably damaging Het
Nexn T C 3: 151,953,894 (GRCm39) N123D probably benign Het
Or11g26 T A 14: 50,753,282 (GRCm39) M207K probably benign Het
Or4d11 A T 19: 12,013,765 (GRCm39) S114T probably benign Het
Or51l14 T A 7: 103,101,423 (GRCm39) I293N probably damaging Het
Pacs1 C T 19: 5,191,726 (GRCm39) V704M probably damaging Het
Papolg A G 11: 23,822,425 (GRCm39) probably null Het
Pdlim3 T C 8: 46,370,543 (GRCm39) V281A probably benign Het
Plpp4 T G 7: 128,925,190 (GRCm39) F142V probably damaging Het
Prb1a G A 6: 132,184,620 (GRCm39) Q338* probably null Het
Psg26 G T 7: 18,216,481 (GRCm39) Y119* probably null Het
Ptger4 A G 15: 5,272,491 (GRCm39) C68R probably benign Het
Ptpre T A 7: 135,272,444 (GRCm39) I399N probably damaging Het
Ripply2 A G 9: 86,898,372 (GRCm39) Y72C probably damaging Het
Rp1l1 T A 14: 64,266,837 (GRCm39) S808T possibly damaging Het
Scn5a G A 9: 119,362,838 (GRCm39) T594I probably damaging Het
Sf3b1 T C 1: 55,037,267 (GRCm39) D883G probably benign Het
Skint5 A T 4: 113,369,220 (GRCm39) probably null Het
Terf1 A G 1: 15,889,207 (GRCm39) H212R probably damaging Het
Tmco5 T G 2: 116,711,269 (GRCm39) probably null Het
Tnfaip3 A T 10: 18,882,660 (GRCm39) Y252* probably null Het
Tnrc6a T A 7: 122,770,083 (GRCm39) N624K probably damaging Het
Top3a C A 11: 60,633,615 (GRCm39) R827L probably damaging Het
Unc79 G A 12: 103,055,031 (GRCm39) probably null Het
Usp20 T C 2: 30,901,116 (GRCm39) S422P probably benign Het
Utrn T C 10: 12,509,766 (GRCm39) E2402G probably benign Het
Wdr3 G A 3: 100,063,734 (GRCm39) Q181* probably null Het
Zfp536 T C 7: 37,267,373 (GRCm39) E681G probably damaging Het
Zfp91 C T 19: 12,747,438 (GRCm39) V562I possibly damaging Het
Zfp942 A T 17: 22,148,017 (GRCm39) I204N probably benign Het
Other mutations in Carmil1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Carmil1 APN 13 24,295,821 (GRCm39) missense possibly damaging 0.68
IGL00392:Carmil1 APN 13 24,278,474 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AAGCCAATTCCTCCTGGAGCTGTG -3'
(R):5'- TACCCTGAGCCAGTAGCATCTGTC -3'

Sequencing Primer
(F):5'- CTGGAGCTGTGCTCTGC -3'
(R):5'- acaaacacacacacacacac -3'
Posted On 2013-04-24