Incidental Mutation 'IGL02160:Carmil3'
ID 282438
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02160
Quality Score
Status
Chromosome 14
Chromosomal Location 55728108-55745729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55731015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 94 (M94T)
Ref Sequence ENSEMBL: ENSMUSP00000154517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022821] [ENSMUST00000076236] [ENSMUST00000226757] [ENSMUST00000228877]
AlphaFold Q3UFQ8
Predicted Effect probably benign
Transcript: ENSMUST00000022821
SMART Domains Protein: ENSMUSP00000022821
Gene: ENSMUSG00000022210

DomainStartEndE-ValueType
Pfam:adh_short 34 229 7.8e-54 PFAM
Pfam:KR 35 210 8.4e-14 PFAM
Pfam:adh_short_C2 39 276 7.9e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000076236
AA Change: M94T

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211
AA Change: M94T

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 possibly damaging
Transcript: ENSMUST00000226757
AA Change: M94T

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000226902
Predicted Effect probably benign
Transcript: ENSMUST00000228877
AA Change: M94T

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227542
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A G 9: 53,503,287 (GRCm39) V184A probably benign Het
Adam19 G A 11: 46,030,522 (GRCm39) C750Y probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cabp2 T A 19: 4,134,868 (GRCm39) probably benign Het
Ccdc107 A G 4: 43,495,736 (GRCm39) D213G probably damaging Het
Cdh23 T C 10: 60,433,544 (GRCm39) probably benign Het
Cfap251 A T 5: 123,394,081 (GRCm39) E323D unknown Het
Cfhr2 T A 1: 139,738,664 (GRCm39) D299V probably benign Het
Clcn7 T C 17: 25,368,004 (GRCm39) probably benign Het
Clspn G A 4: 126,475,303 (GRCm39) E1019K probably benign Het
Ctnna3 A G 10: 64,086,477 (GRCm39) T350A probably benign Het
Dmbt1 G A 7: 130,684,418 (GRCm39) G638E probably damaging Het
Ext2 A T 2: 93,643,929 (GRCm39) D117E probably benign Het
Fem1al A T 11: 29,773,593 (GRCm39) Y621* probably null Het
Ffar4 T A 19: 38,085,903 (GRCm39) V110D possibly damaging Het
Foxred2 G T 15: 77,839,850 (GRCm39) Q147K probably benign Het
Heatr9 T C 11: 83,409,651 (GRCm39) D107G probably benign Het
Hmgxb3 G A 18: 61,304,308 (GRCm39) A94V probably damaging Het
Htr5b A T 1: 121,455,774 (GRCm39) S49T possibly damaging Het
Il1rl1 A T 1: 40,500,997 (GRCm39) M458L probably benign Het
Il23r A T 6: 67,400,562 (GRCm39) N589K probably benign Het
Kbtbd11 G A 8: 15,078,801 (GRCm39) V467M probably damaging Het
Kidins220 T A 12: 25,054,110 (GRCm39) Y537N probably damaging Het
Kif27 T A 13: 58,473,812 (GRCm39) E728D probably damaging Het
Lum T C 10: 97,404,443 (GRCm39) S113P probably damaging Het
Mkln1 A G 6: 31,469,726 (GRCm39) probably benign Het
Mmp17 A G 5: 129,672,633 (GRCm39) D195G possibly damaging Het
Naa38 T A 11: 69,287,194 (GRCm39) probably benign Het
Naalad2 G A 9: 18,291,233 (GRCm39) A191V probably damaging Het
Naip6 A T 13: 100,435,933 (GRCm39) H863Q probably benign Het
Ncoa6 A G 2: 155,263,003 (GRCm39) V477A possibly damaging Het
Nipal3 G T 4: 135,201,728 (GRCm39) Y153* probably null Het
Or10s1 A T 9: 39,986,482 (GRCm39) N297I probably damaging Het
Or13d1 A G 4: 52,971,194 (GRCm39) D191G probably damaging Het
Or4c12 G T 2: 89,774,149 (GRCm39) H103Q probably damaging Het
Or4g16 G A 2: 111,137,143 (GRCm39) V198I probably benign Het
Or9s23 T A 1: 92,501,079 (GRCm39) L62Q probably damaging Het
Pik3c2a G A 7: 115,987,299 (GRCm39) P541S probably damaging Het
Ppargc1b A T 18: 61,443,506 (GRCm39) D552E probably damaging Het
Ppfia3 C A 7: 45,009,475 (GRCm39) probably benign Het
Prcp G A 7: 92,566,969 (GRCm39) S227N probably benign Het
Ptprq T A 10: 107,489,426 (GRCm39) T900S probably benign Het
Ralgapa2 G A 2: 146,190,360 (GRCm39) probably benign Het
Rcsd1 A G 1: 165,485,148 (GRCm39) S102P probably damaging Het
Rfwd3 T A 8: 111,999,707 (GRCm39) N757I possibly damaging Het
Rnf217 A T 10: 31,381,767 (GRCm39) probably null Het
Scn2a A G 2: 65,560,460 (GRCm39) D1230G probably damaging Het
Sdc3 T C 4: 130,545,886 (GRCm39) probably benign Het
Slc27a4 G T 2: 29,695,974 (GRCm39) D170Y probably benign Het
Tcof1 A G 18: 60,981,815 (GRCm39) probably benign Het
Ticam1 T A 17: 56,577,560 (GRCm39) I512F possibly damaging Het
Ticrr T C 7: 79,343,767 (GRCm39) C1211R probably benign Het
Tlr2 A T 3: 83,744,678 (GRCm39) N468K possibly damaging Het
Tmod4 T C 3: 95,036,424 (GRCm39) probably benign Het
Tnxb T C 17: 34,933,719 (GRCm39) S2380P probably benign Het
Top6bl T C 19: 4,713,612 (GRCm39) D276G probably damaging Het
Tox A G 4: 6,711,537 (GRCm39) V309A probably damaging Het
Tpgs2 A G 18: 25,273,637 (GRCm39) F175L possibly damaging Het
Trim43b A G 9: 88,973,683 (GRCm39) S17P probably benign Het
Ttc21a G T 9: 119,785,989 (GRCm39) L662F probably damaging Het
Ubqln1 A T 13: 58,339,951 (GRCm39) N261K probably damaging Het
Umodl1 T C 17: 31,205,091 (GRCm39) V562A probably damaging Het
Unc45b C T 11: 82,831,007 (GRCm39) probably benign Het
Vars1 T A 17: 35,220,478 (GRCm39) I20N probably damaging Het
Vcan T C 13: 89,832,612 (GRCm39) N3092D probably damaging Het
Zc3h6 G T 2: 128,839,605 (GRCm39) E139D probably benign 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
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
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
Posted On 2015-04-16