Incidental Mutation 'IGL02629:Carmil3'
ID301200
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 essential (E-score: 0.553) question?
Stock #IGL02629
Quality Score
Status
Chromosome14
Chromosomal Location55490651-55508272 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55499068 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 663 (N663S)
Ref Sequence ENSEMBL: ENSMUSP00000075587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076236] [ENSMUST00000226757] [ENSMUST00000228877]
Predicted Effect probably damaging
Transcript: ENSMUST00000076236
AA Change: N663S

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211
AA Change: N663S

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: ENSMUST00000228760
Predicted Effect probably benign
Transcript: ENSMUST00000228877
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,609,144 probably benign Het
Aadacl3 A G 4: 144,463,629 I34T possibly damaging Het
Acan T A 7: 79,111,979 I1979N possibly damaging Het
Ankrd27 A G 7: 35,625,696 D701G probably benign Het
Arhgap31 C T 16: 38,609,164 G450S probably benign Het
Braf T C 6: 39,688,299 E45G possibly damaging Het
Btnl6 C T 17: 34,514,468 V178M probably damaging Het
Capg A T 6: 72,555,754 Q67L probably benign Het
Casz1 T A 4: 148,944,391 S1098T probably benign Het
Cd55b A T 1: 130,419,798 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cenpf A G 1: 189,652,334 L2583P probably damaging Het
Clec4a1 A C 6: 122,932,147 probably null Het
Corin T C 5: 72,332,673 N653S probably damaging Het
Dhx36 T C 3: 62,506,734 E69G probably benign Het
Dpy19l1 C A 9: 24,438,713 probably benign Het
Fam184a T C 10: 53,698,811 N234S possibly damaging Het
Foxg1 A G 12: 49,385,548 S355G probably benign Het
Fsd1l T C 4: 53,686,417 S277P probably damaging Het
Hadh T A 3: 131,235,635 D245V probably damaging Het
Jag2 G A 12: 112,914,514 probably benign Het
Klhl18 A T 9: 110,429,938 probably benign Het
Lmx1a G T 1: 167,844,623 probably benign Het
Mcoln2 A G 3: 146,170,044 Y89C probably benign Het
Mug1 A T 6: 121,840,065 Y31F possibly damaging Het
Ndufb5 A G 3: 32,737,199 T32A probably benign Het
Nub1 C T 5: 24,703,464 H404Y possibly damaging Het
Nudt6 A G 3: 37,405,171 Y222H probably benign Het
Olfr1269 A T 2: 90,118,857 L247* probably null Het
Pla2g4c A T 7: 13,335,377 R159* probably null Het
Pnpla7 A G 2: 25,050,945 D1103G probably damaging Het
Pof1b T G X: 112,645,237 probably benign Het
Prrg2 C T 7: 45,056,742 probably null Het
Rab3gap1 A G 1: 127,909,863 T221A probably benign Het
Rfx7 A G 9: 72,619,259 N1244D probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rnf123 A T 9: 108,070,789 probably benign Het
Rnf44 T G 13: 54,683,062 Q207P possibly damaging Het
Serpina3g A G 12: 104,241,178 D200G probably damaging Het
Slc5a4a T A 10: 76,147,579 S17T unknown Het
Smc4 G T 3: 69,025,873 C609F probably damaging Het
Sync T C 4: 129,293,951 F259L probably damaging Het
Tas2r113 T C 6: 132,893,336 L109P probably damaging Het
Tjp2 C A 19: 24,122,379 probably benign Het
Tmem30a C A 9: 79,776,249 probably benign Het
Unc80 T C 1: 66,483,317 V226A possibly damaging Het
Upk2 A T 9: 44,454,139 L44Q probably damaging Het
Usp42 T C 5: 143,723,154 Y203C possibly damaging Het
Vmn1r28 A T 6: 58,265,816 I215F probably benign Het
Zswim2 A G 2: 83,925,209 V116A 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
IGL01061:Carmil3 APN 14 55498630 missense possibly damaging 0.67
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
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
R7386:Carmil3 UTSW 14 55497747 critical splice donor site probably null
R7463:Carmil3 UTSW 14 55502396 missense probably damaging 1.00
U24488:Carmil3 UTSW 14 55497179 missense probably benign 0.02
Z1088:Carmil3 UTSW 14 55501568 missense probably damaging 1.00
Posted On2015-04-16