Incidental Mutation 'IGL01061:Carmil3'
ID52636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Carmil3
Ensembl Gene ENSMUSG00000022211
Gene Namecapping protein regulator and myosin 1 linker 3
SynonymsLrrc16b
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.313) question?
Stock #IGL01061
Quality Score
Status
Chromosome14
Chromosomal Location55490651-55508272 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 55498630 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 610 (S610A)
Ref Sequence ENSEMBL: ENSMUSP00000075587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076236] [ENSMUST00000226757] [ENSMUST00000228877]
Predicted Effect possibly damaging
Transcript: ENSMUST00000076236
AA Change: S610A

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211
AA Change: S610A

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 probably benign
Transcript: ENSMUST00000226757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227088
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228760
Predicted Effect probably benign
Transcript: ENSMUST00000228877
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,907,302 M299I probably damaging Het
Ankfy1 T A 11: 72,728,860 C186* probably null Het
Ankmy1 A T 1: 92,870,974 probably benign Het
B3gnt2 T A 11: 22,836,042 E382V probably damaging Het
Cfap70 T C 14: 20,447,625 probably benign Het
Chek1 G A 9: 36,714,519 R277C possibly damaging Het
Cpb1 T A 3: 20,266,516 I92L probably benign Het
Ddx56 C T 11: 6,264,671 probably null Het
Dicer1 A T 12: 104,706,327 M887K probably null Het
Dnajc18 A G 18: 35,680,942 probably benign Het
Dock2 A G 11: 34,705,826 V401A probably damaging Het
Dock4 A C 12: 40,702,969 N434T probably benign Het
Ehbp1l1 A T 19: 5,717,888 M1129K probably benign Het
Fam83a A T 15: 57,986,375 Y105F possibly damaging Het
Fnbp1 C A 2: 31,083,042 D70Y probably damaging Het
Gtf3c2 A G 5: 31,168,354 F414L possibly damaging Het
Kdelc2 A G 9: 53,388,587 probably benign Het
Kndc1 A T 7: 139,922,694 E965D probably benign Het
Lrrc66 T C 5: 73,615,499 K209E probably benign Het
Mcm3 A T 1: 20,814,496 I261N possibly damaging Het
Mier3 T A 13: 111,714,436 probably benign Het
Muc6 T C 7: 141,648,454 E669G probably damaging Het
Myh1 T A 11: 67,217,862 M1368K probably benign Het
Nav1 A G 1: 135,450,630 I1653T probably damaging Het
Nuak1 C A 10: 84,375,134 L363F probably damaging Het
Olfr113 A G 17: 37,574,904 I173T possibly damaging Het
Olfr1502 T C 19: 13,862,705 V304A possibly damaging Het
Olfr690 A G 7: 105,329,382 I270T possibly damaging Het
Pkd1l3 A G 8: 109,638,706 H1153R probably damaging Het
Ppp6r2 A T 15: 89,286,015 probably benign Het
Prelid3b T C 2: 174,465,821 probably null Het
Prrt3 T C 6: 113,497,770 K164E possibly damaging Het
Rab22a T A 2: 173,688,210 D60E probably damaging Het
Rab32 A G 10: 10,557,874 L72P probably damaging Het
Samm50 A G 15: 84,202,254 T225A probably benign Het
Snx27 T A 3: 94,528,980 probably benign Het
Taf7 G A 18: 37,643,433 T27M probably damaging Het
Tgm5 A T 2: 121,071,496 C231S probably benign Het
Tll1 A G 8: 64,038,454 probably null Het
Tmem150a A G 6: 72,357,118 D61G probably damaging Het
Ttll8 G A 15: 88,917,250 R412C possibly damaging Het
Ubr3 T A 2: 69,983,225 D1293E probably benign Het
Utp20 T C 10: 88,770,704 N1669D probably benign Het
Vmn2r28 A G 7: 5,488,184 W355R probably damaging Het
Wdr60 C A 12: 116,229,704 A543S probably benign Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Zfhx2 T A 14: 55,073,882 N452Y possibly damaging Het
Zfp180 T G 7: 24,104,745 D196E possibly damaging Het
Other mutations in Carmil3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Carmil3 APN 14 55498298 missense probably damaging 0.99
IGL00498:Carmil3 APN 14 55501895 critical splice donor site probably null
IGL01452:Carmil3 APN 14 55496058 missense probably damaging 0.99
IGL01606:Carmil3 APN 14 55493849 missense possibly damaging 0.83
IGL01633:Carmil3 APN 14 55494227 missense possibly damaging 0.84
IGL01977:Carmil3 APN 14 55493536 missense probably damaging 1.00
IGL02065:Carmil3 APN 14 55493822 splice site probably benign
IGL02160:Carmil3 APN 14 55493558 missense possibly damaging 0.70
IGL02491:Carmil3 APN 14 55504517 missense probably benign 0.00
IGL02567:Carmil3 APN 14 55498882 missense possibly damaging 0.93
IGL02629:Carmil3 APN 14 55499068 missense probably damaging 0.97
IGL02720:Carmil3 APN 14 55507410 missense probably damaging 0.97
IGL03100:Carmil3 APN 14 55494718 missense probably damaging 0.99
PIT4434001:Carmil3 UTSW 14 55494688 missense probably null 1.00
R0023:Carmil3 UTSW 14 55492876 missense probably damaging 1.00
R0023:Carmil3 UTSW 14 55492876 missense probably damaging 1.00
R0027:Carmil3 UTSW 14 55494403 missense probably damaging 0.96
R0101:Carmil3 UTSW 14 55497755 splice site probably benign
R0321:Carmil3 UTSW 14 55502241 missense possibly damaging 0.63
R0370:Carmil3 UTSW 14 55495442 missense possibly damaging 0.82
R0465:Carmil3 UTSW 14 55499861 missense probably damaging 0.99
R0647:Carmil3 UTSW 14 55502435 critical splice donor site probably null
R1503:Carmil3 UTSW 14 55498280 missense probably damaging 0.96
R1635:Carmil3 UTSW 14 55496282 missense possibly damaging 0.91
R1715:Carmil3 UTSW 14 55504532 missense probably benign 0.02
R1923:Carmil3 UTSW 14 55502404 missense probably damaging 0.99
R1944:Carmil3 UTSW 14 55498630 missense probably damaging 0.97
R2513:Carmil3 UTSW 14 55503838 missense probably damaging 0.98
R2892:Carmil3 UTSW 14 55498313 missense probably damaging 0.96
R3433:Carmil3 UTSW 14 55507694 missense probably benign 0.05
R3552:Carmil3 UTSW 14 55507402 missense possibly damaging 0.86
R3783:Carmil3 UTSW 14 55496976 missense probably damaging 1.00
R3787:Carmil3 UTSW 14 55496976 missense probably damaging 1.00
R4181:Carmil3 UTSW 14 55503955 missense probably benign 0.10
R4285:Carmil3 UTSW 14 55499476 utr 3 prime probably benign
R4420:Carmil3 UTSW 14 55493588 missense probably damaging 0.98
R4424:Carmil3 UTSW 14 55501471 missense probably benign
R4506:Carmil3 UTSW 14 55499476 utr 3 prime probably benign
R4507:Carmil3 UTSW 14 55499476 utr 3 prime probably benign
R4534:Carmil3 UTSW 14 55499476 utr 3 prime probably benign
R4535:Carmil3 UTSW 14 55499476 utr 3 prime probably benign
R4549:Carmil3 UTSW 14 55505664 splice site probably null
R4574:Carmil3 UTSW 14 55499476 utr 3 prime probably benign
R4783:Carmil3 UTSW 14 55501321 critical splice donor site probably null
R4784:Carmil3 UTSW 14 55501321 critical splice donor site probably null
R5146:Carmil3 UTSW 14 55497179 missense probably benign 0.02
R5279:Carmil3 UTSW 14 55501571 missense probably damaging 0.98
R5425:Carmil3 UTSW 14 55493877 missense probably benign 0.41
R5530:Carmil3 UTSW 14 55493624 missense probably damaging 0.98
R5534:Carmil3 UTSW 14 55494890 missense probably damaging 0.97
R5598:Carmil3 UTSW 14 55503999 frame shift probably null
R5772:Carmil3 UTSW 14 55493239 missense probably damaging 1.00
R5896:Carmil3 UTSW 14 55503999 frame shift probably null
R5931:Carmil3 UTSW 14 55498940 missense probably damaging 0.99
R6048:Carmil3 UTSW 14 55503845 missense probably benign 0.00
R6103:Carmil3 UTSW 14 55505427 missense probably benign 0.02
R6258:Carmil3 UTSW 14 55500432 missense probably damaging 1.00
R6260:Carmil3 UTSW 14 55500432 missense probably damaging 1.00
R6338:Carmil3 UTSW 14 55499849 missense possibly damaging 0.83
R6339:Carmil3 UTSW 14 55499849 missense possibly damaging 0.83
R6646:Carmil3 UTSW 14 55507930 missense probably damaging 0.97
R6936:Carmil3 UTSW 14 55501561 missense probably benign 0.04
R7164:Carmil3 UTSW 14 55501282 missense probably damaging 0.98
R7214:Carmil3 UTSW 14 55498612 missense probably damaging 1.00
R7223:Carmil3 UTSW 14 55496238 missense possibly damaging 0.48
R7269:Carmil3 UTSW 14 55493895 missense probably benign 0.03
R7319:Carmil3 UTSW 14 55494360 missense probably benign 0.13
R7357:Carmil3 UTSW 14 55491133 start gained probably benign
R7386:Carmil3 UTSW 14 55497747 critical splice donor site probably null
R7463:Carmil3 UTSW 14 55502396 missense probably damaging 1.00
R7598:Carmil3 UTSW 14 55494821 missense possibly damaging 0.61
R7602:Carmil3 UTSW 14 55501508 missense probably null 0.00
R7617:Carmil3 UTSW 14 55497891 missense probably benign 0.06
U24488:Carmil3 UTSW 14 55497179 missense probably benign 0.02
Z1088:Carmil3 UTSW 14 55501568 missense probably damaging 1.00
Posted On2013-06-21