Incidental Mutation 'R4535:Carmil3'
ID 333301
Institutional Source Beutler Lab
Gene Symbol Carmil3
Ensembl Gene ENSMUSG00000022211
Gene Name capping protein regulator and myosin 1 linker 3
Synonyms Lrrc16b
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # R4535 (G1)
Quality Score 217
Status Not validated
Chromosome 14
Chromosomal Location 55728108-55745729 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) GGACGA to GGA at 55736933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076236] [ENSMUST00000226757] [ENSMUST00000228877]
AlphaFold Q3UFQ8
Predicted Effect probably benign
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: ENSMUST00000227070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227312
Predicted Effect probably benign
Transcript: ENSMUST00000228877
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227088
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228760
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 T C 1: 34,762,162 (GRCm39) S473P unknown Het
Azin1 A T 15: 38,493,849 (GRCm39) I258N probably benign Het
Bod1l G A 5: 41,989,574 (GRCm39) A383V probably benign Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Cd4 A T 6: 124,847,414 (GRCm39) F250Y probably benign Het
Clcn4 T A 7: 7,290,813 (GRCm39) Y662F probably benign Het
Cpa2 T C 6: 30,552,020 (GRCm39) V249A probably benign Het
Depdc5 CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 5: 33,067,751 (GRCm39) probably benign Het
Dhx57 A G 17: 80,582,511 (GRCm39) Y365H probably damaging Het
Dsg1c A G 18: 20,408,322 (GRCm39) E457G probably benign Het
Eef2k T A 7: 120,457,822 (GRCm39) Y60* probably null Het
Efcc1 A G 6: 87,730,133 (GRCm39) D482G probably null Het
Exoc4 C T 6: 33,254,179 (GRCm39) R112C probably damaging Het
Fam178b A T 1: 36,639,606 (GRCm39) D293E probably benign Het
Fbxl21 G A 13: 56,674,873 (GRCm39) V49I probably damaging Het
Fyco1 A G 9: 123,667,953 (GRCm39) V91A probably damaging Het
H2-M10.4 T C 17: 36,772,736 (GRCm39) E82G probably damaging Het
Hmcn1 A G 1: 150,439,531 (GRCm39) I5434T probably damaging Het
Hormad1 T C 3: 95,492,452 (GRCm39) V343A probably benign Het
Incenp T C 19: 9,861,303 (GRCm39) N450S unknown Het
Iqsec3 T C 6: 121,356,977 (GRCm39) K1035E possibly damaging Het
Ltn1 A T 16: 87,223,174 (GRCm39) V102D probably damaging Het
Mcur1 T C 13: 43,698,016 (GRCm39) T295A probably damaging Het
Pals1 A T 12: 78,871,611 (GRCm39) D397V possibly damaging Het
Pcdha3 T C 18: 37,081,013 (GRCm39) V585A probably damaging Het
Plcd4 A G 1: 74,602,627 (GRCm39) T594A probably damaging Het
Ppp1r3c T C 19: 36,711,522 (GRCm39) K83E probably damaging Het
Sesn3 C A 9: 14,233,954 (GRCm39) T309K probably benign Het
Slc38a3 T C 9: 107,533,405 (GRCm39) N251S probably benign Het
Sptbn4 A G 7: 27,067,127 (GRCm39) V614A probably damaging Het
Srsf4 A G 4: 131,601,175 (GRCm39) K34R probably damaging Het
Tfpi2 T C 6: 3,968,044 (GRCm39) N32S possibly damaging Het
Ttll2 A T 17: 7,619,120 (GRCm39) I269N probably benign Het
Utp3 T C 5: 88,703,458 (GRCm39) V329A probably benign Het
Vmn2r102 A G 17: 19,914,975 (GRCm39) T847A probably benign Het
Vmn2r70 A T 7: 85,214,541 (GRCm39) W204R probably damaging Het
Xrcc3 A G 12: 111,770,966 (GRCm39) L321P probably 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
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
R4783:Carmil3 UTSW 14 55,738,778 (GRCm39) critical splice donor site probably null
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'- GATGATGGGCCCTAAATACACG -3'
(R):5'- TACAACTGGGTGGCCTTCTTG -3'

Sequencing Primer
(F):5'- TACAGAGCATTCCAGGGGCTC -3'
(R):5'- GGCTTTCCAGATTGTAGGGAAG -3'
Posted On 2015-08-18