Incidental Mutation 'R9428:Carmil1'
ID 712757
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 # R9428 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 24196327-24464778 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 24295834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 393 (C393*)
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 null
Transcript: ENSMUST00000072889
AA Change: C393*
SMART Domains Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338
AA Change: C393*

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 null
Transcript: ENSMUST00000110398
AA Change: C393*
SMART Domains Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
AA Change: C393*

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: 99.7%
  • 20x: 99.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Agmo A G 12: 37,455,330 (GRCm39) I281M probably benign Het
Ahdc1 C T 4: 132,791,773 (GRCm39) P1005S possibly damaging Het
Akap12 T A 10: 4,303,409 (GRCm39) V178D probably damaging Het
Arc A G 15: 74,543,063 (GRCm39) S387P probably benign Het
Arhgap11a C T 2: 113,667,279 (GRCm39) V423I probably benign Het
Arhgap44 A G 11: 64,899,168 (GRCm39) S670P probably damaging Het
C4b G A 17: 34,949,885 (GRCm39) T1433M possibly damaging Het
C4bp A T 1: 130,581,094 (GRCm39) F138L probably benign Het
Cblif A G 19: 11,735,102 (GRCm39) T241A probably benign Het
Celsr1 A T 15: 85,815,549 (GRCm39) V1822E possibly damaging Het
Chgb C G 2: 132,635,154 (GRCm39) S365R probably damaging Het
Cnih3 T C 1: 181,180,857 (GRCm39) probably benign Het
Dcaf1 T A 9: 106,735,528 (GRCm39) D825E possibly damaging Het
Dlx3 T C 11: 95,011,430 (GRCm39) Y95H probably benign Het
Dmbt1 A T 7: 130,668,208 (GRCm39) E488V unknown Het
Espnl A G 1: 91,273,595 (GRCm39) Y985C probably damaging Het
Frmpd2 T C 14: 33,272,010 (GRCm39) V1048A probably damaging Het
Fxn A T 19: 24,249,787 (GRCm39) L100Q probably damaging Het
Gapvd1 T A 2: 34,607,318 (GRCm39) D560V probably damaging Het
Gm4924 T A 10: 82,213,490 (GRCm39) H429Q unknown Het
Gpr158 T C 2: 21,787,972 (GRCm39) F538L probably benign Het
Itpr1 T A 6: 108,378,308 (GRCm39) M1278K possibly damaging Het
Ivd T A 2: 118,708,369 (GRCm39) V361E probably damaging Het
Kcnh6 T C 11: 105,899,821 (GRCm39) L30P probably damaging Het
Lipo4 C T 19: 33,495,074 (GRCm39) V35I probably benign Het
Lmo7 A G 14: 102,155,076 (GRCm39) D1200G probably damaging Het
Med1 T A 11: 98,080,049 (GRCm39) R31* probably null Het
Mill2 A T 7: 18,573,950 (GRCm39) R12* probably null Het
Mphosph8 A G 14: 56,934,114 (GRCm39) probably null Het
Mtfr2 T A 10: 20,233,039 (GRCm39) S203T possibly damaging Het
Muc5ac A C 7: 141,362,559 (GRCm39) T1957P unknown Het
Mxi1 C A 19: 53,299,213 (GRCm39) P28Q probably benign Het
Mycbpap T C 11: 94,393,995 (GRCm39) D367G probably damaging Het
Nav3 T C 10: 109,605,176 (GRCm39) T966A probably benign Het
Nbea AC A 3: 55,998,393 (GRCm39) probably null Het
Ndst2 A T 14: 20,775,470 (GRCm39) F673L possibly damaging Het
Ndst3 T A 3: 123,340,518 (GRCm39) I767F probably benign Het
Nell1 A T 7: 50,503,683 (GRCm39) D696V probably damaging Het
Nol9 A T 4: 152,124,109 (GRCm39) T100S probably benign Het
Nr4a1 T C 15: 101,168,245 (GRCm39) S94P probably damaging Het
Nrdc T C 4: 108,858,121 (GRCm39) I31T probably damaging Het
Oas2 T A 5: 120,887,576 (GRCm39) D88V probably damaging Het
Or8w1 T C 2: 87,465,774 (GRCm39) I106V probably benign Het
Pex6 A G 17: 47,022,991 (GRCm39) H189R probably benign Het
Pgap1 A G 1: 54,575,206 (GRCm39) S239P probably damaging Het
Pheta1 C T 5: 121,991,147 (GRCm39) P170S possibly damaging Het
Plec A G 15: 76,067,721 (GRCm39) probably null Het
Plekhg5 T C 4: 152,192,780 (GRCm39) V582A probably benign Het
Plekhh2 G T 17: 84,873,841 (GRCm39) E375D probably benign Het
Pramel55 G T 5: 95,949,545 (GRCm39) R97S probably damaging Het
Prp2rt A G 13: 97,235,724 (GRCm39) S8P probably benign Het
Psmd4 G A 3: 94,940,767 (GRCm39) T332I probably benign Het
Ptprc T A 1: 138,041,485 (GRCm39) T76S probably benign Het
Rab44 A T 17: 29,358,315 (GRCm39) I168L Het
Ros1 T C 10: 51,958,061 (GRCm39) T1872A probably benign Het
Scgb1b24 A T 7: 33,443,493 (GRCm39) K51* probably null Het
Scube2 A T 7: 109,428,345 (GRCm39) D509E probably benign Het
Sgo2b A T 8: 64,393,067 (GRCm39) S123R probably damaging Het
Smc3 G C 19: 53,617,150 (GRCm39) R521P possibly damaging Het
Socs4 G A 14: 47,528,034 (GRCm39) R323H probably damaging Het
Socs5 T A 17: 87,441,067 (GRCm39) D2E probably benign Het
Sra1 A G 18: 36,810,299 (GRCm39) V121A probably damaging Het
Stimate T C 14: 30,594,645 (GRCm39) S253P probably benign Het
Tanc1 T C 2: 59,601,548 (GRCm39) L143P probably damaging Het
Tcerg1l A T 7: 137,811,490 (GRCm39) F568Y probably damaging Het
Trpm7 T C 2: 126,671,140 (GRCm39) E614G probably damaging Het
Tuba4a G T 1: 75,192,686 (GRCm39) H337Q Het
Tubgcp6 G A 15: 88,985,100 (GRCm39) H1663Y probably damaging Het
Ush2a A G 1: 188,175,316 (GRCm39) Y1138C probably damaging Het
Vmn1r18 A T 6: 57,367,535 (GRCm39) N6K possibly damaging Het
Vmn1r213 G A 13: 23,195,944 (GRCm39) A176T Het
Vmn1r215 A T 13: 23,260,749 (GRCm39) H263L probably benign Het
Vmn2r51 CGGCCAATAGAAGAAACTTTTACCTTCAAGCAGTGAGAACTGGC CGGC 7: 9,833,712 (GRCm39) probably benign Het
Wdhd1 A C 14: 47,489,427 (GRCm39) L702* probably null Het
Zc3h12a T C 4: 125,020,558 (GRCm39) E95G 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
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
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'- AGCCCTCAAACTTACAGCTATG -3'
(R):5'- CTCTGGAGATGGTAATGCCTC -3'

Sequencing Primer
(F):5'- TTTCCAAGTCAGCTACAGAGGTC -3'
(R):5'- GGAGATGGTAATGCCTCTTTCTACTC -3'
Posted On 2022-05-16