Incidental Mutation 'R3433:Carmil3'
ID 266309
Institutional Source Beutler Lab
Gene Symbol Carmil3
Ensembl Gene ENSMUSG00000022211
Gene Name capping protein regulator and myosin 1 linker 3
Synonyms Lrrc16b
MMRRC Submission 040651-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # R3433 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 55728108-55745729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55745151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1331 (D1331G)
Ref Sequence ENSEMBL: ENSMUSP00000075587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074225] [ENSMUST00000076236] [ENSMUST00000163767] [ENSMUST00000165262] [ENSMUST00000165725] [ENSMUST00000226757] [ENSMUST00000171643] [ENSMUST00000228877]
AlphaFold Q3UFQ8
Predicted Effect probably benign
Transcript: ENSMUST00000074225
SMART Domains Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212

DomainStartEndE-ValueType
C2 21 126 6.65e-3 SMART
C2 155 258 7.51e-11 SMART
VWA 304 506 4.37e-14 SMART
low complexity region 543 557 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000076236
AA Change: D1331G

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211
AA Change: D1331G

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 probably benign
Transcript: ENSMUST00000163767
SMART Domains Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212

DomainStartEndE-ValueType
C2 21 126 6.65e-3 SMART
C2 155 258 7.51e-11 SMART
VWA 304 506 4.37e-14 SMART
low complexity region 543 557 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165262
SMART Domains Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212

DomainStartEndE-ValueType
C2 21 126 6.65e-3 SMART
C2 155 258 7.51e-11 SMART
VWA 304 505 2.34e-14 SMART
low complexity region 542 556 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165725
SMART Domains Protein: ENSMUSP00000130799
Gene: ENSMUSG00000022212

DomainStartEndE-ValueType
C2 21 126 1.22e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170155
Predicted Effect probably benign
Transcript: ENSMUST00000226757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227088
Predicted Effect probably benign
Transcript: ENSMUST00000171643
SMART Domains Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212

DomainStartEndE-ValueType
C2 21 126 6.65e-3 SMART
C2 155 258 7.51e-11 SMART
VWA 304 506 4.37e-14 SMART
low complexity region 543 557 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000228877
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226653
Meta Mutation Damage Score 0.0838 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 119,893,455 (GRCm39) W1302R probably damaging Het
Abcf1 A G 17: 36,269,109 (GRCm39) Y689H probably benign Het
Adamtsl5 T C 10: 80,178,725 (GRCm39) T218A probably benign Het
Ahnak G T 19: 8,987,358 (GRCm39) V2881L probably benign Het
Atp6v1b1 C A 6: 83,720,074 (GRCm39) T3K possibly damaging Het
Atp8b5 A T 4: 43,372,697 (GRCm39) R1112S probably benign Het
Catsperg2 A G 7: 29,400,643 (GRCm39) F696S possibly damaging Het
Cd33 T C 7: 43,179,331 (GRCm39) T273A probably benign Het
Cenpf C T 1: 189,392,146 (GRCm39) C562Y probably damaging Het
Cep192 A G 18: 67,967,963 (GRCm39) R816G probably benign Het
Cnot11 G A 1: 39,584,268 (GRCm39) probably null Het
Col18a1 A G 10: 76,932,102 (GRCm39) L329P unknown Het
Dnah9 T C 11: 65,965,938 (GRCm39) M1693V possibly damaging Het
Fbxo41 A G 6: 85,454,613 (GRCm39) I701T probably damaging Het
Figla G T 6: 85,994,411 (GRCm39) R62L probably damaging Het
Gca T G 2: 62,520,318 (GRCm39) S159R probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm10845 C T 14: 80,100,851 (GRCm39) noncoding transcript Het
Gm5114 T C 7: 39,058,621 (GRCm39) K333E probably benign Het
Ift140 T C 17: 25,255,282 (GRCm39) I466T probably benign Het
Il6st A G 13: 112,640,365 (GRCm39) K653E probably damaging Het
Kansl2 A G 15: 98,426,742 (GRCm39) probably null Het
Kcnh7 T C 2: 62,552,261 (GRCm39) D910G probably benign Het
Leng8 C A 7: 4,145,131 (GRCm39) T177K probably benign Het
Lrrtm2 A C 18: 35,346,950 (GRCm39) S117R probably damaging Het
Megf8 G T 7: 25,059,549 (GRCm39) A2285S probably benign Het
Meiob T C 17: 25,035,571 (GRCm39) probably benign Het
Myo18a G T 11: 77,708,870 (GRCm39) probably null Het
Nars1 A T 18: 64,642,374 (GRCm39) M156K probably damaging Het
Ndor1 A G 2: 25,137,823 (GRCm39) S499P possibly damaging Het
Or2a57 A T 6: 43,212,607 (GRCm39) I22F probably damaging Het
Or2r11 G A 6: 42,437,888 (GRCm39) H22Y probably benign Het
Or4a78 T C 2: 89,497,577 (GRCm39) I218V probably benign Het
Pcdh15 T G 10: 74,467,331 (GRCm39) S1715A probably benign Het
Ptprd C A 4: 76,004,248 (GRCm39) probably null Het
Ros1 A G 10: 51,967,204 (GRCm39) Y1668H probably benign Het
Rrbp1 A G 2: 143,794,200 (GRCm39) probably benign Het
Rtn4rl2 T C 2: 84,702,444 (GRCm39) Y376C probably damaging Het
Seh1l A C 18: 67,926,222 (GRCm39) K358T probably benign Het
Sema3e A T 5: 14,302,728 (GRCm39) Y751F probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Spred2 G T 11: 19,948,277 (GRCm39) E91* probably null Het
Sspo A T 6: 48,452,885 (GRCm39) probably null Het
Tcaf1 A G 6: 42,663,508 (GRCm39) V124A probably damaging Het
Tnks1bp1 T C 2: 84,901,360 (GRCm39) probably benign Het
Txndc11 T C 16: 10,906,052 (GRCm39) T493A probably benign Het
Usp17lb T A 7: 104,490,855 (GRCm39) Q23L possibly damaging Het
Vgf T C 5: 137,059,873 (GRCm39) F12L probably benign Het
Zfp13 G A 17: 23,795,602 (GRCm39) T323I 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
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
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'- AAACTGACTGGCCCGACATC -3'
(R):5'- ATATTTGGGCTCGAAGGGGC -3'

Sequencing Primer
(F):5'- CTTTCTCTGCTAGCTACAGGAG -3'
(R):5'- CTCGAAGGGGCCATGTTTGAC -3'
Posted On 2015-02-18