Incidental Mutation 'R4783:Carmil3'
ID 366760
Institutional Source Beutler Lab
Gene Symbol Carmil3
Ensembl Gene ENSMUSG00000022211
Gene Name capping protein regulator and myosin 1 linker 3
Synonyms Lrrc16b
MMRRC Submission 042416-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.275) question?
Stock # R4783 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 55728108-55745729 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 55738778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000075587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076236] [ENSMUST00000226757] [ENSMUST00000228877]
AlphaFold Q3UFQ8
Predicted Effect probably null
Transcript: ENSMUST00000076236
SMART Domains Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211

DomainStartEndE-ValueType
low complexity region 138 151 N/A INTRINSIC
internal_repeat_1 203 297 7.56e-6 PROSPERO
Blast:LRR 333 362 5e-10 BLAST
Blast:LRR 423 446 1e-5 BLAST
low complexity region 447 462 N/A INTRINSIC
low complexity region 468 479 N/A INTRINSIC
internal_repeat_1 496 593 7.56e-6 PROSPERO
Pfam:CARMIL_C 778 1065 5.3e-76 PFAM
low complexity region 1068 1117 N/A INTRINSIC
low complexity region 1137 1146 N/A INTRINSIC
low complexity region 1204 1216 N/A INTRINSIC
low complexity region 1318 1329 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226388
Predicted Effect probably benign
Transcript: ENSMUST00000226446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226653
Predicted Effect probably benign
Transcript: ENSMUST00000226757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227088
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227563
Predicted Effect probably benign
Transcript: ENSMUST00000228877
Meta Mutation Damage Score 0.9491 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 100% (99/99)
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082J24Rik G A 5: 30,310,198 (GRCm39) R54* probably null Het
Acsl6 A T 11: 54,227,819 (GRCm39) M350L probably damaging Het
Adgrv1 T C 13: 81,243,564 (GRCm39) T6279A probably damaging Het
Ago3 A T 4: 126,262,296 (GRCm39) M418K probably benign Het
Ascc2 G A 11: 4,596,653 (GRCm39) R58H probably benign Het
Brinp3 A G 1: 146,603,378 (GRCm39) probably benign Het
Ccdc47 T A 11: 106,094,430 (GRCm39) H7L probably benign Het
Ccndbp1 A T 2: 120,839,003 (GRCm39) T5S probably benign Het
Cdr2 A T 7: 120,557,644 (GRCm39) F294I probably benign Het
Chd8 C A 14: 52,442,825 (GRCm39) C575F probably damaging Het
Ctsll3 G A 13: 60,948,209 (GRCm39) T156I probably damaging Het
Dgcr8 G A 16: 18,076,174 (GRCm39) R4* probably null Het
Dnah1 T A 14: 30,985,436 (GRCm39) K3818N probably damaging Het
Dok2 C T 14: 71,015,314 (GRCm39) P347L probably benign Het
Elf1 T A 14: 79,818,183 (GRCm39) N567K probably benign Het
Emsy T C 7: 98,295,686 (GRCm39) N72S possibly damaging Het
Fam76a A G 4: 132,643,501 (GRCm39) Y78H probably damaging Het
Fam76a A T 4: 132,629,428 (GRCm39) probably null Het
Fbn1 A T 2: 125,166,839 (GRCm39) C2026S probably damaging Het
Fbxo4 T C 15: 3,998,523 (GRCm39) T312A probably benign Het
Fhip1a G T 3: 85,595,877 (GRCm39) T115K probably damaging Het
Flnb A T 14: 7,905,701 (GRCm38) E1150D probably benign Het
Galt T C 4: 41,758,189 (GRCm39) V318A probably damaging Het
Git1 T G 11: 77,390,663 (GRCm39) L133R probably damaging Het
Gm11168 G A 9: 3,006,915 (GRCm39) M213I probably benign Het
Gm7233 A G 14: 43,037,423 (GRCm39) E25G probably benign Het
Golga2 T A 2: 32,187,168 (GRCm39) N89K probably damaging Het
Grin1 T A 2: 25,182,393 (GRCm39) H956L possibly damaging Het
Hlcs C T 16: 94,069,398 (GRCm39) V164I possibly damaging Het
Hmgcr G A 13: 96,802,701 (GRCm39) T66M probably damaging Het
Ifi206 A T 1: 173,308,432 (GRCm39) H521Q probably benign Het
Lgals3bp G A 11: 118,284,340 (GRCm39) T413I probably damaging Het
Lrrc7 A G 3: 157,832,850 (GRCm39) probably null Het
Mapk11 T C 15: 89,033,691 (GRCm39) Y9C probably damaging Het
Mccc1 C A 3: 36,030,022 (GRCm39) M429I probably damaging Het
Metrnl A G 11: 121,598,750 (GRCm39) E40G probably benign Het
Mrgpra1 A G 7: 46,985,218 (GRCm39) S154P probably damaging Het
Myh13 A T 11: 67,232,096 (GRCm39) I459F probably damaging Het
Nalf1 T C 8: 9,258,026 (GRCm39) Y374C probably damaging Het
Nedd4l C A 18: 65,305,998 (GRCm39) D424E probably damaging Het
Nid1 C T 13: 13,674,326 (GRCm39) R902W probably damaging Het
Nphp4 G A 4: 152,639,003 (GRCm39) R878K probably benign Het
Numa1 A G 7: 101,662,773 (GRCm39) T1997A probably damaging Het
Nutm1 G A 2: 112,079,281 (GRCm39) A878V probably benign Het
Nxf1 G A 19: 8,744,162 (GRCm39) A339T probably benign Het
Oas1b C A 5: 120,952,578 (GRCm39) Q90K probably benign Het
Optn T C 2: 5,059,438 (GRCm39) M27V probably benign Het
Or1r1 A G 11: 73,874,834 (GRCm39) F200S probably damaging Het
Or2t35 A C 14: 14,407,729 (GRCm38) Y167S possibly damaging Het
Or4f56 A T 2: 111,703,395 (GRCm39) D268E possibly damaging Het
Or5ac17 G T 16: 59,036,222 (GRCm39) F251L probably damaging Het
Or5d45 A G 2: 88,153,500 (GRCm39) I183T probably damaging Het
Or5g29 A G 2: 85,421,282 (GRCm39) T133A probably benign Het
Or5h18 G T 16: 58,848,260 (GRCm39) D3E probably benign Het
Oxgr1 T C 14: 120,259,776 (GRCm39) I144V probably benign Het
Pax5 T A 4: 44,570,086 (GRCm39) T127S probably damaging Het
Pcsk2 T C 2: 143,529,599 (GRCm39) probably null Het
Pdxk A G 10: 78,300,626 (GRCm39) V19A possibly damaging Het
Pik3c2a A T 7: 116,017,060 (GRCm39) S232R probably damaging Het
Ppip5k1 T C 2: 121,171,329 (GRCm39) D620G possibly damaging Het
Ppp4r4 T A 12: 103,557,117 (GRCm39) probably null Het
Psmd1 A G 1: 86,006,434 (GRCm39) N267D probably damaging Het
Pudp A G 18: 50,701,136 (GRCm39) V199A probably damaging Het
Rasal3 T A 17: 32,615,755 (GRCm39) D361V probably damaging Het
Rbm12 T C 2: 155,938,484 (GRCm39) D596G possibly damaging Het
Rbm6 T C 9: 107,730,102 (GRCm39) D182G probably damaging Het
Rif1 T C 2: 52,002,759 (GRCm39) V2071A probably damaging Het
Rilp C T 11: 75,401,467 (GRCm39) A110V possibly damaging Het
Rprd2 A G 3: 95,681,645 (GRCm39) V332A probably benign Het
Sbpl T A 17: 24,172,304 (GRCm39) D205V unknown Het
Scn9a T C 2: 66,370,967 (GRCm39) I538V probably benign Het
Serpina1d T C 12: 103,734,083 (GRCm39) S74G possibly damaging Het
Serpina3n T C 12: 104,375,369 (GRCm39) I147T possibly damaging Het
Serpinb8 A G 1: 107,532,472 (GRCm39) N188S probably benign Het
Sipa1l3 A G 7: 29,077,066 (GRCm39) V902A probably damaging Het
Slc25a47 T A 12: 108,821,260 (GRCm39) L123Q probably damaging Het
Slc30a2 A T 4: 134,071,317 (GRCm39) probably null Het
Slc66a1 G T 4: 139,027,312 (GRCm39) H343Q probably benign Het
Snx13 T A 12: 35,148,285 (GRCm39) D271E probably damaging Het
Tbc1d9b A G 11: 50,062,125 (GRCm39) N1211S probably benign Het
Tdrd3 T A 14: 87,709,537 (GRCm39) I67N probably damaging Het
Thbs1 T C 2: 117,945,273 (GRCm39) V282A probably benign Het
Tmc8 A G 11: 117,682,431 (GRCm39) probably null Het
Trim11 T A 11: 58,879,750 (GRCm39) F284Y probably null Het
Ttn G T 2: 76,552,141 (GRCm39) Y29419* probably null Het
Ttn A G 2: 76,599,947 (GRCm39) Y19076H probably damaging Het
Ubr4 T C 4: 139,149,044 (GRCm39) S448P possibly damaging Het
Ugt2b34 T C 5: 87,039,332 (GRCm39) E443G probably damaging Het
Usp29 A G 7: 6,964,390 (GRCm39) T78A probably damaging Het
Vmn1r227 A G 17: 20,955,396 (GRCm39) noncoding transcript Het
Vmn1r85 A T 7: 12,818,788 (GRCm39) W119R probably damaging Het
Vmn2r12 A T 5: 109,234,379 (GRCm39) V611E probably damaging Het
Vmn2r97 A T 17: 19,149,550 (GRCm39) M313L probably benign Het
Zap70 T C 1: 36,818,254 (GRCm39) Y314H probably damaging Het
Zfp667 T A 7: 6,308,684 (GRCm39) F451I possibly damaging Het
Other mutations in Carmil3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Carmil3 APN 14 55,735,755 (GRCm39) missense probably damaging 0.99
IGL00498:Carmil3 APN 14 55,739,352 (GRCm39) critical splice donor site probably null
IGL01061:Carmil3 APN 14 55,736,087 (GRCm39) missense possibly damaging 0.67
IGL01452:Carmil3 APN 14 55,733,515 (GRCm39) missense probably damaging 0.99
IGL01606:Carmil3 APN 14 55,731,306 (GRCm39) missense possibly damaging 0.83
IGL01633:Carmil3 APN 14 55,731,684 (GRCm39) missense possibly damaging 0.84
IGL01977:Carmil3 APN 14 55,730,993 (GRCm39) missense probably damaging 1.00
IGL02065:Carmil3 APN 14 55,731,279 (GRCm39) splice site probably benign
IGL02160:Carmil3 APN 14 55,731,015 (GRCm39) missense possibly damaging 0.70
IGL02491:Carmil3 APN 14 55,741,974 (GRCm39) missense probably benign 0.00
IGL02567:Carmil3 APN 14 55,736,339 (GRCm39) missense possibly damaging 0.93
IGL02629:Carmil3 APN 14 55,736,525 (GRCm39) missense probably damaging 0.97
IGL02720:Carmil3 APN 14 55,744,867 (GRCm39) missense probably damaging 0.97
IGL03100:Carmil3 APN 14 55,732,175 (GRCm39) missense probably damaging 0.99
PIT4434001:Carmil3 UTSW 14 55,732,145 (GRCm39) missense probably null 1.00
R0023:Carmil3 UTSW 14 55,730,333 (GRCm39) missense probably damaging 1.00
R0023:Carmil3 UTSW 14 55,730,333 (GRCm39) missense probably damaging 1.00
R0027:Carmil3 UTSW 14 55,731,860 (GRCm39) missense probably damaging 0.96
R0101:Carmil3 UTSW 14 55,735,212 (GRCm39) splice site probably benign
R0321:Carmil3 UTSW 14 55,739,698 (GRCm39) missense possibly damaging 0.63
R0370:Carmil3 UTSW 14 55,732,899 (GRCm39) missense possibly damaging 0.82
R0465:Carmil3 UTSW 14 55,737,318 (GRCm39) missense probably damaging 0.99
R0647:Carmil3 UTSW 14 55,739,892 (GRCm39) critical splice donor site probably null
R1503:Carmil3 UTSW 14 55,735,737 (GRCm39) missense probably damaging 0.96
R1635:Carmil3 UTSW 14 55,733,739 (GRCm39) missense possibly damaging 0.91
R1715:Carmil3 UTSW 14 55,741,989 (GRCm39) missense probably benign 0.02
R1923:Carmil3 UTSW 14 55,739,861 (GRCm39) missense probably damaging 0.99
R1944:Carmil3 UTSW 14 55,736,087 (GRCm39) missense probably damaging 0.97
R2513:Carmil3 UTSW 14 55,741,295 (GRCm39) missense probably damaging 0.98
R2892:Carmil3 UTSW 14 55,735,770 (GRCm39) missense probably damaging 0.96
R3433:Carmil3 UTSW 14 55,745,151 (GRCm39) missense probably benign 0.05
R3552:Carmil3 UTSW 14 55,744,859 (GRCm39) missense possibly damaging 0.86
R3783:Carmil3 UTSW 14 55,734,433 (GRCm39) missense probably damaging 1.00
R3787:Carmil3 UTSW 14 55,734,433 (GRCm39) missense probably damaging 1.00
R4181:Carmil3 UTSW 14 55,741,412 (GRCm39) missense probably benign 0.10
R4285:Carmil3 UTSW 14 55,736,933 (GRCm39) utr 3 prime probably benign
R4420:Carmil3 UTSW 14 55,731,045 (GRCm39) missense probably damaging 0.98
R4424:Carmil3 UTSW 14 55,738,928 (GRCm39) missense probably benign
R4506:Carmil3 UTSW 14 55,736,933 (GRCm39) utr 3 prime probably benign
R4507:Carmil3 UTSW 14 55,736,933 (GRCm39) utr 3 prime probably benign
R4534:Carmil3 UTSW 14 55,736,933 (GRCm39) utr 3 prime probably benign
R4535:Carmil3 UTSW 14 55,736,933 (GRCm39) utr 3 prime probably benign
R4549:Carmil3 UTSW 14 55,743,121 (GRCm39) splice site probably null
R4574:Carmil3 UTSW 14 55,736,933 (GRCm39) utr 3 prime probably benign
R4784:Carmil3 UTSW 14 55,738,778 (GRCm39) critical splice donor site probably null
R5146:Carmil3 UTSW 14 55,734,636 (GRCm39) missense probably benign 0.02
R5279:Carmil3 UTSW 14 55,739,028 (GRCm39) missense probably damaging 0.98
R5425:Carmil3 UTSW 14 55,731,334 (GRCm39) missense probably benign 0.41
R5530:Carmil3 UTSW 14 55,731,081 (GRCm39) missense probably damaging 0.98
R5534:Carmil3 UTSW 14 55,732,347 (GRCm39) missense probably damaging 0.97
R5598:Carmil3 UTSW 14 55,741,456 (GRCm39) frame shift probably null
R5772:Carmil3 UTSW 14 55,730,696 (GRCm39) missense probably damaging 1.00
R5896:Carmil3 UTSW 14 55,741,456 (GRCm39) frame shift probably null
R5931:Carmil3 UTSW 14 55,736,397 (GRCm39) missense probably damaging 0.99
R6048:Carmil3 UTSW 14 55,741,302 (GRCm39) missense probably benign 0.00
R6103:Carmil3 UTSW 14 55,742,884 (GRCm39) missense probably benign 0.02
R6258:Carmil3 UTSW 14 55,737,889 (GRCm39) missense probably damaging 1.00
R6260:Carmil3 UTSW 14 55,737,889 (GRCm39) missense probably damaging 1.00
R6338:Carmil3 UTSW 14 55,737,306 (GRCm39) missense possibly damaging 0.83
R6339:Carmil3 UTSW 14 55,737,306 (GRCm39) missense possibly damaging 0.83
R6646:Carmil3 UTSW 14 55,745,387 (GRCm39) missense probably damaging 0.97
R6936:Carmil3 UTSW 14 55,739,018 (GRCm39) missense probably benign 0.04
R7164:Carmil3 UTSW 14 55,738,739 (GRCm39) missense probably damaging 0.98
R7214:Carmil3 UTSW 14 55,736,069 (GRCm39) missense probably damaging 1.00
R7223:Carmil3 UTSW 14 55,733,695 (GRCm39) missense possibly damaging 0.48
R7269:Carmil3 UTSW 14 55,731,352 (GRCm39) missense probably benign 0.03
R7319:Carmil3 UTSW 14 55,731,817 (GRCm39) missense probably benign 0.13
R7357:Carmil3 UTSW 14 55,728,590 (GRCm39) start gained probably benign
R7386:Carmil3 UTSW 14 55,735,204 (GRCm39) critical splice donor site probably null
R7463:Carmil3 UTSW 14 55,739,853 (GRCm39) missense probably damaging 1.00
R7598:Carmil3 UTSW 14 55,732,278 (GRCm39) missense possibly damaging 0.61
R7602:Carmil3 UTSW 14 55,738,965 (GRCm39) missense probably null 0.00
R7617:Carmil3 UTSW 14 55,735,348 (GRCm39) missense probably benign 0.06
R7985:Carmil3 UTSW 14 55,734,409 (GRCm39) missense probably benign 0.03
R8127:Carmil3 UTSW 14 55,735,701 (GRCm39) missense probably damaging 0.98
R8423:Carmil3 UTSW 14 55,736,522 (GRCm39) missense probably damaging 1.00
R8465:Carmil3 UTSW 14 55,734,305 (GRCm39) missense probably damaging 1.00
R8849:Carmil3 UTSW 14 55,734,627 (GRCm39) missense probably benign 0.01
R8955:Carmil3 UTSW 14 55,733,534 (GRCm39) missense probably damaging 0.98
R9321:Carmil3 UTSW 14 55,741,425 (GRCm39) missense
R9346:Carmil3 UTSW 14 55,732,141 (GRCm39) missense probably damaging 1.00
R9387:Carmil3 UTSW 14 55,731,869 (GRCm39) nonsense probably null
R9578:Carmil3 UTSW 14 55,741,293 (GRCm39) critical splice acceptor site probably null
U24488:Carmil3 UTSW 14 55,734,636 (GRCm39) missense probably benign 0.02
Z1088:Carmil3 UTSW 14 55,739,025 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACTATGCTCTCTGTGGGCAG -3'
(R):5'- AAGATGGATCCTGCCCTTGG -3'

Sequencing Primer
(F):5'- AGCCAGCTGGTCCATTCTCAG -3'
(R):5'- TTGGCTTGCCCCTCCGG -3'
Posted On 2015-12-29