Incidental Mutation 'R0415:Micalcl'
ID40243
Institutional Source Beutler Lab
Gene Symbol Micalcl
Ensembl Gene ENSMUSG00000030771
Gene NameMICAL C-terminal like
SynonymsEbitein1, 4921517J23Rik
MMRRC Submission 038617-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.249) question?
Stock #R0415 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location112368308-112413106 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 112381028 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 70 (R70C)
Ref Sequence ENSEMBL: ENSMUSP00000102256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033033] [ENSMUST00000051308] [ENSMUST00000106645]
Predicted Effect probably damaging
Transcript: ENSMUST00000033033
AA Change: R136C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000033033
Gene: ENSMUSG00000030771
AA Change: R136C

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
low complexity region 72 100 N/A INTRINSIC
low complexity region 393 404 N/A INTRINSIC
low complexity region 415 432 N/A INTRINSIC
low complexity region 545 562 N/A INTRINSIC
coiled coil region 569 597 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000051308
AA Change: R70C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062443
Gene: ENSMUSG00000030771
AA Change: R70C

DomainStartEndE-ValueType
low complexity region 6 34 N/A INTRINSIC
low complexity region 327 338 N/A INTRINSIC
low complexity region 349 366 N/A INTRINSIC
low complexity region 479 496 N/A INTRINSIC
low complexity region 500 515 N/A INTRINSIC
DUF3585 526 668 6.86e-56 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106645
AA Change: R70C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102256
Gene: ENSMUSG00000030771
AA Change: R70C

DomainStartEndE-ValueType
low complexity region 6 34 N/A INTRINSIC
low complexity region 327 338 N/A INTRINSIC
low complexity region 349 366 N/A INTRINSIC
low complexity region 479 496 N/A INTRINSIC
low complexity region 500 515 N/A INTRINSIC
DUF3585 526 668 6.86e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213108
Predicted Effect probably benign
Transcript: ENSMUST00000215412
Predicted Effect unknown
Transcript: ENSMUST00000216652
AA Change: R282C
Meta Mutation Damage Score 0.0324 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 97% (99/102)
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427G23Rik A T 5: 23,831,050 noncoding transcript Het
Acox2 A G 14: 8,243,835 probably benign Het
Adgb T C 10: 10,431,067 probably null Het
Adgra3 C A 5: 49,961,757 probably benign Het
Adgre4 G A 17: 55,852,288 V658I probably benign Het
Ahnak A G 19: 9,012,871 probably benign Het
Anapc2 A G 2: 25,278,325 T159A probably damaging Het
Arfgef3 A G 10: 18,613,127 probably benign Het
Atf7ip C T 6: 136,560,012 S81L possibly damaging Het
Cacna1i A G 15: 80,368,830 probably benign Het
Camk1 A T 6: 113,341,891 Y20* probably null Het
Ccdc40 T C 11: 119,232,118 Y249H possibly damaging Het
Cd109 T A 9: 78,712,615 S1380T probably benign Het
Cfap57 A T 4: 118,569,431 L1107Q possibly damaging Het
Col6a4 C T 9: 106,075,080 V540I probably damaging Het
Cst9 T A 2: 148,838,442 probably benign Het
Cul5 C T 9: 53,667,070 V73I probably benign Het
Cxcl16 T A 11: 70,458,748 K84* probably null Het
Cyp2c29 T C 19: 39,329,095 probably benign Het
D6Ertd527e C G 6: 87,111,524 T223S unknown Het
Dip2c C T 13: 9,568,289 probably benign Het
Dis3 A T 14: 99,087,456 I513N probably damaging Het
Dnajc16 A T 4: 141,789,048 L3* probably null Het
Dopey1 T A 9: 86,506,502 L480M probably damaging Het
Eml6 A G 11: 29,749,392 V1787A possibly damaging Het
Etnk1 A G 6: 143,180,774 N115S probably damaging Het
Fryl T C 5: 73,098,414 Y758C probably damaging Het
Gbp4 G A 5: 105,121,106 R394C possibly damaging Het
Ggnbp2 A C 11: 84,833,225 probably benign Het
Gm7137 A G 10: 77,788,173 probably benign Het
Gstm2 T A 3: 107,984,006 Q132L probably benign Het
Habp2 T C 19: 56,317,717 probably benign Het
Hectd2 T C 19: 36,584,884 probably benign Het
Htr6 A G 4: 139,062,081 I291T possibly damaging Het
Ighg2c T C 12: 113,287,910 D199G unknown Het
Itih2 A G 2: 10,105,615 probably benign Het
Kcnab2 A G 4: 152,395,136 F248S probably benign Het
Kcnc4 T C 3: 107,445,433 K610E probably damaging Het
Kcnk16 T A 14: 20,262,975 probably null Het
Kndc1 C T 7: 139,930,124 T1293I probably damaging Het
Lcp1 A T 14: 75,227,006 I556F possibly damaging Het
Lrrc8d T C 5: 105,811,865 L47P probably damaging Het
Lyst T C 13: 13,711,610 probably benign Het
Macrod2 G A 2: 142,210,145 probably null Het
Mllt3 ACTGCTGCTGCTGCTGCTGCT ACTGCTGCTGCTGCTGCT 4: 87,841,339 probably benign Het
Msh3 A G 13: 92,346,786 V283A possibly damaging Het
Nup205 T C 6: 35,214,634 probably benign Het
Nxpe2 T C 9: 48,326,614 T114A probably damaging Het
Olfr1023 A T 2: 85,887,438 I213F possibly damaging Het
Olfr1034 A T 2: 86,047,055 H191L probably benign Het
Olfr229 A G 9: 39,909,983 Y60C probably damaging Het
Olfr78 C T 7: 102,742,087 M305I probably benign Het
Olfr893 A T 9: 38,209,973 M305L probably benign Het
Pard3 G A 8: 127,610,566 G1221D probably damaging Het
Pax5 G A 4: 44,691,886 A120V probably damaging Het
Pcsk6 C T 7: 66,033,874 R746C probably damaging Het
Pif1 G A 9: 65,588,051 C81Y probably benign Het
Plcb1 A G 2: 135,337,499 Y609C probably damaging Het
Plcd4 C A 1: 74,552,097 S217Y probably damaging Het
Plxna1 G A 6: 89,357,336 H104Y probably benign Het
Polr2k A G 15: 36,175,456 Y45C probably damaging Het
Pqlc3 C A 12: 16,997,710 probably benign Het
Prex1 A G 2: 166,586,699 probably benign Het
Pth2r A G 1: 65,388,439 M424V probably benign Het
Pygm A G 19: 6,391,366 R464G probably benign Het
Rad51c A G 11: 87,397,655 L234P probably damaging Het
Rnf145 A G 11: 44,525,138 Y60C probably damaging Het
Rnf167 T C 11: 70,649,699 I135T probably damaging Het
Rnf213 A T 11: 119,414,469 I509F probably damaging Het
Ryr2 T C 13: 11,869,156 S213G probably damaging Het
Selenbp1 T C 3: 94,936,913 V27A possibly damaging Het
Selenof T G 3: 144,577,692 L14R probably damaging Het
Sfswap A T 5: 129,504,126 D121V probably damaging Het
Slc25a34 C A 4: 141,620,469 M300I possibly damaging Het
Slc34a3 T G 2: 25,229,110 T583P probably benign Het
Smg1 C A 7: 118,182,468 A1199S probably benign Het
Spint1 A G 2: 119,245,615 T231A probably damaging Het
Sptbn1 A C 11: 30,149,576 N229K probably damaging Het
Sult2b1 A G 7: 45,730,092 probably benign Het
Tas2r123 A T 6: 132,847,838 M233L probably damaging Het
Tbcel C A 9: 42,444,500 C139F probably benign Het
Thbs2 A C 17: 14,679,973 S573A probably benign Het
Tmem132c A G 5: 127,563,705 E980G probably damaging Het
Tmem247 G T 17: 86,922,322 C197F probably damaging Het
Tmem251 T A 12: 102,744,876 Y119* probably null Het
Tmem43 C A 6: 91,482,318 P257Q probably benign Het
Tmprss13 A G 9: 45,337,132 probably null Het
Trove2 G T 1: 143,760,075 N444K probably benign Het
Ubr5 T C 15: 37,972,980 T2626A probably damaging Het
Vmn1r196 T A 13: 22,293,836 V215D probably damaging Het
Vmn1r22 G T 6: 57,900,332 T220K probably benign Het
Vmn2r116 G A 17: 23,387,279 M388I possibly damaging Het
Vmn2r74 A C 7: 85,961,410 C25G probably damaging Het
Xndc1 T C 7: 102,080,616 probably benign Het
Zfp282 A G 6: 47,897,881 D340G probably damaging Het
Zfp282 T A 6: 47,905,053 I558N possibly damaging Het
Zfp316 T A 5: 143,264,491 T56S unknown Het
Zfp345 A G 2: 150,474,559 probably benign Het
Other mutations in Micalcl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Micalcl APN 7 112382145 missense possibly damaging 0.94
IGL01775:Micalcl APN 7 112382062 missense possibly damaging 0.89
IGL02051:Micalcl APN 7 112381390 missense probably benign 0.30
IGL03114:Micalcl APN 7 112397557 missense probably damaging 1.00
R0091:Micalcl UTSW 7 112381296 missense probably benign 0.05
R0962:Micalcl UTSW 7 112380417 missense probably damaging 0.99
R1521:Micalcl UTSW 7 112381610 missense probably damaging 1.00
R1611:Micalcl UTSW 7 112381464 missense probably damaging 0.99
R1815:Micalcl UTSW 7 112412902 missense probably damaging 1.00
R1958:Micalcl UTSW 7 112381104 missense probably benign 0.00
R1962:Micalcl UTSW 7 112412844 missense probably benign 0.14
R2439:Micalcl UTSW 7 112394795 missense probably damaging 0.99
R3979:Micalcl UTSW 7 112407678 intron probably null
R4551:Micalcl UTSW 7 112381916 missense possibly damaging 0.87
R4583:Micalcl UTSW 7 112412947 missense probably benign 0.02
R5459:Micalcl UTSW 7 112382237 missense probably benign 0.00
R5763:Micalcl UTSW 7 112374654 critical splice donor site probably null
R6042:Micalcl UTSW 7 112380412 missense probably benign 0.40
R6189:Micalcl UTSW 7 112412880 missense probably damaging 1.00
R6750:Micalcl UTSW 7 112381839 missense probably damaging 0.98
R6798:Micalcl UTSW 7 112376059 utr 3 prime probably benign
Predicted Primers PCR Primer
(F):5'- TAGATGCCAGCAAGTTCTAGCCCC -3'
(R):5'- AGCCCAACTTCCTTTCTTTGGACAG -3'

Sequencing Primer
(F):5'- TGGGCCAAAGAGTGACCTTTC -3'
(R):5'- ATTGGGCAAATACTGGTCCTTC -3'
Posted On2013-05-23