Incidental Mutation 'R7223:Carmil3'
ID 561971
Institutional Source Beutler Lab
Gene Symbol Carmil3
Ensembl Gene ENSMUSG00000022211
Gene Name capping protein regulator and myosin 1 linker 3
Synonyms Lrrc16b
MMRRC Submission 045295-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # R7223 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 55728108-55745729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55733695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 359 (F359S)
Ref Sequence ENSEMBL: ENSMUSP00000075587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076236] [ENSMUST00000226757] [ENSMUST00000228877]
AlphaFold Q3UFQ8
Predicted Effect possibly damaging
Transcript: ENSMUST00000076236
AA Change: F359S

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211
AA Change: F359S

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: ENSMUST00000226446
Predicted Effect probably benign
Transcript: ENSMUST00000226757
Predicted Effect probably benign
Transcript: ENSMUST00000228877
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,104,487 (GRCm39) V733E probably benign Het
Adam34 A T 8: 44,105,041 (GRCm39) N201K probably benign Het
Aldh3b2 A C 19: 4,029,592 (GRCm39) S322R probably damaging Het
Anpep A T 7: 79,475,058 (GRCm39) L914Q probably damaging Het
Arhgap30 T C 1: 171,235,139 (GRCm39) F535S probably damaging Het
Baiap3 G A 17: 25,462,814 (GRCm39) R1075C probably benign Het
Baz2a G T 10: 127,948,475 (GRCm39) G252V probably damaging Het
Brinp3 T A 1: 146,776,812 (GRCm39) S420T possibly damaging Het
Ccdc124 A T 8: 71,321,170 (GRCm39) L190Q probably damaging Het
Ccr6 T C 17: 8,474,972 (GRCm39) V59A probably damaging Het
Ccr8 T A 9: 119,923,683 (GRCm39) I266N probably damaging Het
Cdh23 T A 10: 60,167,596 (GRCm39) E1798V probably damaging Het
Cdk5rap2 T C 4: 70,153,684 (GRCm39) N1713S probably benign Het
Cep19 T A 16: 31,922,833 (GRCm39) I33N probably damaging Het
Cers3 A T 7: 66,433,163 (GRCm39) Y196F probably damaging Het
Cidea T C 18: 67,499,491 (GRCm39) I126T probably damaging Het
Copg2 A T 6: 30,789,689 (GRCm39) Y546* probably null Het
Cul3 A T 1: 80,264,717 (GRCm39) V261E probably benign Het
Cyp2g1 A T 7: 26,514,057 (GRCm39) D221V probably damaging Het
Cyp8b1 G A 9: 121,744,163 (GRCm39) H390Y probably damaging Het
Daam1 T C 12: 72,035,717 (GRCm39) F971L probably damaging Het
Dnajc24 G A 2: 105,832,311 (GRCm39) S24L possibly damaging Het
Dpysl3 T C 18: 43,571,107 (GRCm39) S56G probably benign Het
Esp1 A G 17: 41,041,972 (GRCm39) D88G probably benign Het
Fam171b A G 2: 83,708,574 (GRCm39) T359A probably damaging Het
Fam186b T C 15: 99,177,718 (GRCm39) E536G possibly damaging Het
Fbxo3 T C 2: 103,873,357 (GRCm39) V156A possibly damaging Het
Gls2 C A 10: 128,035,063 (GRCm39) H65Q probably benign Het
Gp2 A G 7: 119,050,721 (GRCm39) probably null Het
Gpcpd1 T A 2: 132,375,976 (GRCm39) K435I probably benign Het
Gpx6 T A 13: 21,501,840 (GRCm39) probably null Het
Hps3 A T 3: 20,084,583 (GRCm39) S202T probably benign Het
Htr1d T A 4: 136,170,812 (GRCm39) L347H probably damaging Het
Igfals T C 17: 25,100,208 (GRCm39) L433P probably damaging Het
Ilvbl C T 10: 78,419,530 (GRCm39) H537Y probably benign Het
Iqgap2 A T 13: 95,765,480 (GRCm39) M1530K probably damaging Het
Jarid2 A G 13: 45,049,798 (GRCm39) T247A possibly damaging Het
L3hypdh C T 12: 72,120,783 (GRCm39) V323I possibly damaging Het
Lama3 C T 18: 12,715,665 (GRCm39) T1707I possibly damaging Het
Map6 G T 7: 98,917,232 (GRCm39) A2S probably damaging Het
Mfap3 T A 11: 57,421,066 (GRCm39) I349K probably benign Het
Mybl2 A G 2: 162,914,625 (GRCm39) T248A probably benign Het
N6amt1 A G 16: 87,159,548 (GRCm39) *151W probably null Het
Nhlrc1 A G 13: 47,167,684 (GRCm39) V191A probably benign Het
Nkx2-5 T C 17: 27,058,594 (GRCm39) E120G possibly damaging Het
Or2y10 T A 11: 49,454,925 (GRCm39) M59K probably damaging Het
Or52r1b C A 7: 102,690,839 (GRCm39) T46N possibly damaging Het
Or8b41 T C 9: 38,055,049 (GRCm39) V201A probably benign Het
Or8k28 T A 2: 86,286,211 (GRCm39) I135F possibly damaging Het
Pcdha8 T G 18: 37,126,201 (GRCm39) L228V probably benign Het
Pcsk2 A G 2: 143,532,253 (GRCm39) T134A possibly damaging Het
Phldb3 G A 7: 24,324,078 (GRCm39) R484Q probably benign Het
Pipox A G 11: 77,772,012 (GRCm39) S371P probably damaging Het
Plekhg1 T C 10: 3,823,343 (GRCm39) S159P Het
Psme4 C T 11: 30,824,226 (GRCm39) P1737S probably benign Het
Pygm G A 19: 6,438,893 (GRCm39) D328N probably benign Het
Rabgef1 A T 5: 130,219,801 (GRCm39) E88V probably benign Het
Rims2 G T 15: 39,300,428 (GRCm39) R245L probably benign Het
Slc38a4 T C 15: 96,908,226 (GRCm39) I172V probably damaging Het
Slc4a10 T A 2: 62,099,009 (GRCm39) Y586N probably damaging Het
Snap91 C T 9: 86,761,610 (GRCm39) probably benign Het
Sorcs1 C T 19: 50,178,480 (GRCm39) V881I probably benign Het
Spef2 A T 15: 9,601,726 (GRCm39) V1512E unknown Het
Sufu T C 19: 46,441,716 (GRCm39) I292T possibly damaging Het
Tet1 T C 10: 62,649,450 (GRCm39) N87D possibly damaging Het
Tmem108 T C 9: 103,376,733 (GRCm39) T239A not run Het
Tmem121 A T 12: 113,152,114 (GRCm39) K111* probably null Het
Tpp2 T A 1: 44,008,048 (GRCm39) D417E probably damaging Het
Tpr G A 1: 150,315,007 (GRCm39) E2025K possibly damaging Het
Trappc3 C T 4: 126,168,945 (GRCm39) A145V possibly damaging Het
Ttn T C 2: 76,721,325 (GRCm39) D6754G probably null Het
Unc13c T A 9: 73,536,473 (GRCm39) M1627L probably benign Het
Ush2a A G 1: 188,542,414 (GRCm39) I3327V probably benign Het
Vmn1r74 C T 7: 11,580,894 (GRCm39) Q65* probably null Het
Wdr18 G A 10: 79,796,202 (GRCm39) R69H probably damaging Het
Zbed5 G T 5: 129,929,279 (GRCm39) D132Y probably damaging Het
Zfp644 A T 5: 106,785,448 (GRCm39) Y366* probably null Het
Zfyve26 T C 12: 79,292,945 (GRCm39) N2068S probably damaging Het
Zic2 T C 14: 122,713,503 (GRCm39) F139S probably damaging Het
Zmynd11 T C 13: 9,760,198 (GRCm39) Q141R probably benign Het
Zrsr2-ps1 A G 11: 22,923,388 (GRCm39) E54G probably benign Het
Zscan10 G A 17: 23,828,456 (GRCm39) D333N 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
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
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
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'- TACCTGGACCTGAGCAAGAAC -3'
(R):5'- TACTGTGCATGAACCCGAAG -3'

Sequencing Primer
(F):5'- AAGAACCCAGGGCTGCTTG -3'
(R):5'- GAAGTCACCCTTGTATCACCG -3'
Posted On 2019-06-26