Incidental Mutation 'R6128:Carmil1'
ID 487534
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 044275-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6128 (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 24197177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 158 (Y158*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072889] [ENSMUST00000110398] [ENSMUST00000125901]
AlphaFold Q6EDY6
Predicted Effect probably benign
Transcript: ENSMUST00000072889
SMART Domains Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338

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
SMART Domains Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338

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
Predicted Effect probably null
Transcript: ENSMUST00000151566
AA Change: Y158*
SMART Domains Protein: ENSMUSP00000120971
Gene: ENSMUSG00000021338
AA Change: Y158*

DomainStartEndE-ValueType
transmembrane domain 138 160 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
A430033K04Rik A G 5: 138,646,038 (GRCm39) H641R probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Asah1 C T 8: 41,807,092 (GRCm39) V111M probably damaging Het
Ascc3 T C 10: 50,526,734 (GRCm39) L611P probably damaging Het
Atl2 C A 17: 80,172,470 (GRCm39) probably null Het
Bhlhe22 A T 3: 18,109,987 (GRCm39) S346C probably damaging Het
Bicc1 T C 10: 70,776,313 (GRCm39) probably null Het
Bptf G T 11: 106,965,516 (GRCm39) A1163D possibly damaging Het
Bub1b T A 2: 118,448,293 (GRCm39) C382S probably benign Het
Ccdc175 A T 12: 72,175,933 (GRCm39) I473K probably benign Het
Ccdc18 A G 5: 108,311,625 (GRCm39) I444V possibly damaging Het
Cep131 T A 11: 119,956,801 (GRCm39) I880F probably damaging Het
Ces2e T A 8: 105,655,428 (GRCm39) I117N probably benign Het
Clk2 C T 3: 89,081,531 (GRCm39) T289M probably damaging Het
Crocc2 A T 1: 93,122,123 (GRCm39) D672V probably benign Het
Cul7 T A 17: 46,962,588 (GRCm39) I73N probably damaging Het
Cyp2d12 C A 15: 82,443,166 (GRCm39) D358E probably benign Het
Cyp7a1 A G 4: 6,272,788 (GRCm39) S142P possibly damaging Het
Daw1 T A 1: 83,183,647 (GRCm39) C232* probably null Het
Dhx9 T C 1: 153,353,835 (GRCm39) K195R probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dpp3 A G 19: 4,972,420 (GRCm39) V168A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ercc6l2 T C 13: 64,001,563 (GRCm39) V459A probably damaging Het
Erp44 A T 4: 48,243,493 (GRCm39) N38K probably damaging Het
Fam135a A G 1: 24,069,821 (GRCm39) probably null Het
Fblim1 G A 4: 141,312,033 (GRCm39) R231C probably damaging Het
Fdps T C 3: 89,006,740 (GRCm39) E117G possibly damaging Het
Gbp4 A C 5: 105,283,030 (GRCm39) V80G possibly damaging Het
Glt1d1 A T 5: 127,754,335 (GRCm39) D179V probably damaging Het
Gtf2a1l T A 17: 89,002,086 (GRCm39) V314E probably null Het
Gzmf G T 14: 56,443,443 (GRCm39) Y178* probably null Het
Hira C T 16: 18,751,727 (GRCm39) P509S probably benign Het
Ifi44 T C 3: 151,454,823 (GRCm39) N134S probably benign Het
Igfbp2 T A 1: 72,863,958 (GRCm39) C74S probably damaging Het
Il24 A G 1: 130,813,435 (GRCm39) L54P probably damaging Het
Ints10 T C 8: 69,274,904 (GRCm39) probably null Het
Ipo9 A G 1: 135,318,311 (GRCm39) C700R possibly damaging Het
Kalrn T A 16: 34,033,255 (GRCm39) Q469L probably damaging Het
Lrp1b T G 2: 40,750,667 (GRCm39) I2966L probably benign Het
Lta C A 17: 35,422,817 (GRCm39) V169L possibly damaging Het
Lyst T C 13: 13,933,964 (GRCm39) V3554A possibly damaging Het
Mobp A G 9: 119,997,392 (GRCm39) probably benign Het
Myorg T A 4: 41,498,445 (GRCm39) N395I probably damaging Het
Or10d1 C G 9: 39,484,549 (GRCm39) R2T probably benign Het
Or4b1d A T 2: 89,968,954 (GRCm39) C176* probably null Het
Or8c14-ps1 T C 9: 38,101,299 (GRCm39) S93P probably benign Het
Pacs1 A T 19: 5,202,400 (GRCm39) probably null Het
Phf21a G T 2: 92,181,953 (GRCm39) probably null Het
Pick1 T A 15: 79,123,896 (GRCm39) M89K probably damaging Het
Pik3cb T C 9: 98,946,152 (GRCm39) D558G possibly damaging Het
Pnma8a A G 7: 16,694,661 (GRCm39) D172G probably benign Het
Polr2a A C 11: 69,627,803 (GRCm39) V1368G probably damaging Het
Pomt2 A G 12: 87,158,109 (GRCm39) probably null Het
Pou2f1 T C 1: 165,703,056 (GRCm39) probably benign Het
Rnf145 T C 11: 44,446,018 (GRCm39) V284A probably damaging Het
Robo1 A T 16: 72,809,956 (GRCm39) M1235L probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Ryr3 C T 2: 112,784,639 (GRCm39) probably null Het
Scamp1 A C 13: 94,344,735 (GRCm39) L202R possibly damaging Het
Snx25 C T 8: 46,558,240 (GRCm39) V110I probably benign Het
Spata31e2 G A 1: 26,724,506 (GRCm39) P225S probably benign Het
Susd6 T A 12: 80,915,388 (GRCm39) H124Q possibly damaging Het
Tarm1 T C 7: 3,537,720 (GRCm39) T248A probably benign Het
Tc2n A G 12: 101,675,748 (GRCm39) M1T probably null Het
Tcerg1 C A 18: 42,644,563 (GRCm39) probably null Het
Ticrr C A 7: 79,343,716 (GRCm39) P1194T probably damaging Het
Trim31 T G 17: 37,220,491 (GRCm39) V469G probably benign Het
Vcp T C 4: 42,980,941 (GRCm39) E723G probably benign Het
Vmn1r177 C A 7: 23,565,267 (GRCm39) S203I probably damaging Het
Vmn1r177 T A 7: 23,565,268 (GRCm39) S203C probably damaging Het
Vmn1r210 A T 13: 23,012,277 (GRCm39) L3* probably null Het
Wdr27 T A 17: 15,152,796 (GRCm39) R104* probably null Het
Wnk1 A C 6: 119,940,747 (GRCm39) probably null Het
Zfp157 A G 5: 138,453,281 (GRCm39) E88G possibly damaging Het
Zfp708 A T 13: 67,222,965 (GRCm39) L22Q probably damaging Het
Zfp788 T C 7: 41,299,785 (GRCm39) F787S 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
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'- ACTTGGGTGTGAGTCCAGTTAC -3'
(R):5'- GAACAGAAGCAACGGTCCTC -3'

Sequencing Primer
(F):5'- TGAGTCCAGTTACTTCATTAATTTCC -3'
(R):5'- TCCTCGGGCAAAGATGGTCAC -3'
Posted On 2017-10-10