Incidental Mutation 'R9103:Carmil1'
ID 691844
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9103 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 24196327-24464778 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24295836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 393 (C393R)
Ref Sequence ENSEMBL: ENSMUSP00000072662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072889] [ENSMUST00000110398] [ENSMUST00000125901]
AlphaFold Q6EDY6
PDB Structure Solution structure of the CARMIL CAH3a/b domain bound to capping protein (CP) [SOLUTION NMR]
Crystal structure of Actin Capping Protein in complex with the Cp-binding motif derived from CARMIL [X-RAY DIFFRACTION]
Crystal structure of Actin capping protein in complex with CARMIL fragment [X-RAY DIFFRACTION]
Crystal Structure of mouse CARMIL residues 1-668 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000072889
AA Change: C393R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338
AA Change: C393R

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 benign
Transcript: ENSMUST00000110398
AA Change: C393R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
AA Change: C393R

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 benign
Transcript: ENSMUST00000125901
SMART Domains Protein: ENSMUSP00000126522
Gene: ENSMUSG00000021338

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (73/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T A 12: 113,454,558 (GRCm39) C458* probably null Het
Adgra2 G A 8: 27,603,436 (GRCm39) G407D probably damaging Het
Aox4 G A 1: 58,296,441 (GRCm39) G1046E probably damaging Het
Arhgap27 A G 11: 103,251,540 (GRCm39) Y63H probably damaging Het
Ascl3 A T 7: 109,327,127 (GRCm39) M64K probably benign Het
Cacna2d3 G A 14: 29,068,971 (GRCm39) T252I probably damaging Het
Capn7 A G 14: 31,091,732 (GRCm39) T710A probably benign Het
Chd5 A C 4: 152,461,444 (GRCm39) E1215A possibly damaging Het
Cntnap1 A G 11: 101,072,094 (GRCm39) N449S probably benign Het
Cpz G A 5: 35,675,054 (GRCm39) S65L probably benign Het
Cyp2c68 T A 19: 39,727,625 (GRCm39) N118I possibly damaging Het
Ddx25 A T 9: 35,458,085 (GRCm39) F345I probably benign Het
Dennd2d T C 3: 106,397,684 (GRCm39) Y161H Het
Egfl8 C T 17: 34,833,210 (GRCm39) D179N probably benign Het
Eif2a A G 3: 58,452,461 (GRCm39) N174S Het
Farp1 C T 14: 121,509,104 (GRCm39) H643Y possibly damaging Het
Fat1 G T 8: 45,404,850 (GRCm39) V534L probably benign Het
Fbxo48 A G 11: 16,903,556 (GRCm39) T61A probably benign Het
Fnbp4 A G 2: 90,608,187 (GRCm39) T970A probably benign Het
Foxd1 T A 13: 98,491,763 (GRCm39) D212E possibly damaging Het
Fstl4 C A 11: 52,664,696 (GRCm39) H9N probably benign Het
Fyb1 A G 15: 6,673,232 (GRCm39) D622G possibly damaging Het
Gm4787 T A 12: 81,425,489 (GRCm39) H223L probably benign Het
Grin3a A G 4: 49,771,179 (GRCm39) V531A probably damaging Het
Gzmb T C 14: 56,498,622 (GRCm39) D42G probably benign Het
Herc2 T A 7: 55,784,803 (GRCm39) Y1416N possibly damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Hsd17b6 A G 10: 127,833,876 (GRCm39) W2R probably damaging Het
Hspa4l T C 3: 40,715,349 (GRCm39) probably null Het
Igtp A G 11: 58,097,726 (GRCm39) E299G Het
Klhl28 T C 12: 64,990,300 (GRCm39) D547G possibly damaging Het
Leng8 G C 7: 4,146,897 (GRCm39) R473P probably damaging Het
Lin37 T A 7: 30,257,055 (GRCm39) N53Y possibly damaging Het
Lrp1 G A 10: 127,430,979 (GRCm39) Q357* probably null Het
Lrrfip2 A T 9: 111,034,840 (GRCm39) K176N probably damaging Het
Ltbp4 A G 7: 27,028,186 (GRCm39) S390P unknown Het
Map3k2 G A 18: 32,353,625 (GRCm39) R465H possibly damaging Het
Mthfd1 T A 12: 76,350,517 (GRCm39) V665E probably damaging Het
Myh3 A T 11: 66,989,451 (GRCm39) I1524F probably benign Het
Myo1g A G 11: 6,466,153 (GRCm39) S339P possibly damaging Het
Nf1 A G 11: 79,450,332 (GRCm39) K506R probably damaging Het
Nudt21 A G 8: 94,746,321 (GRCm39) I225T probably benign Het
Or4c31 A G 2: 88,291,942 (GRCm39) K105R probably benign Het
Or56b1b A T 7: 108,164,780 (GRCm39) L74Q probably benign Het
Or5g9 T A 2: 85,552,527 (GRCm39) Y259* probably null Het
Or8b3 A G 9: 38,314,518 (GRCm39) Y116C probably damaging Het
Or8c18 A T 9: 38,203,969 (GRCm39) I243F probably damaging Het
Pax2 C T 19: 44,806,968 (GRCm39) T299I probably benign Het
Pde4dip C T 3: 97,749,044 (GRCm39) S99N probably damaging Het
Pdlim5 T A 3: 142,010,174 (GRCm39) H147L possibly damaging Het
Pfkfb3 T A 2: 11,487,381 (GRCm39) Y343F probably damaging Het
Phf10 A G 17: 15,174,382 (GRCm39) I232T probably damaging Het
Plcb3 C T 19: 6,936,288 (GRCm39) G745D probably benign Het
Pramel11 G A 4: 143,624,381 (GRCm39) L39F probably damaging Het
Recql C A 6: 142,322,515 (GRCm39) C129F possibly damaging Het
Rrp1 C T 10: 78,240,876 (GRCm39) D288N unknown Het
Samd4 T C 14: 47,254,066 (GRCm39) Y177H probably benign Het
Sim1 T A 10: 50,785,525 (GRCm39) M198K possibly damaging Het
Six4 T C 12: 73,155,964 (GRCm39) I334M probably damaging Het
Slc27a6 T C 18: 58,705,268 (GRCm39) S217P probably damaging Het
Slc2a4 T A 11: 69,836,218 (GRCm39) K264N probably benign Het
Slc8b1 A T 5: 120,670,939 (GRCm39) I476F probably benign Het
Smcp T C 3: 92,491,838 (GRCm39) D3G unknown Het
Tagap A T 17: 8,152,335 (GRCm39) M507L probably benign Het
Thap11 A G 8: 106,582,780 (GRCm39) E263G probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Top3a T G 11: 60,654,253 (GRCm39) probably null Het
Ube2q2l T A 6: 136,378,011 (GRCm39) D273V probably benign Het
Vmn1r31 A G 6: 58,449,073 (GRCm39) V264A unknown Het
Vti1a A C 19: 55,316,865 (GRCm39) M81L probably benign Het
Wscd1 T C 11: 71,674,245 (GRCm39) probably null Het
Zfp595 T C 13: 67,464,676 (GRCm39) E532G probably damaging Het
Zranb1 T A 7: 132,584,167 (GRCm39) V539D probably damaging 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
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
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'- GCTTGCATTGCAGCACAAATC -3'
(R):5'- TGGAGATGGTAATGCCTCTTTC -3'

Sequencing Primer
(F):5'- TTTCCAAGTCAGCTACAGAGGTC -3'
(R):5'- GGAGATGGTAATGCCTCTTTCTACTC -3'
Posted On 2021-12-30