Incidental Mutation 'R0834:Clmn'
ID 77753
Institutional Source Beutler Lab
Gene Symbol Clmn
Ensembl Gene ENSMUSG00000021097
Gene Name calmin
Synonyms 9330188N17Rik
MMRRC Submission 039013-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0834 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 104729376-104831335 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104738085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1042 (L1042Q)
Ref Sequence ENSEMBL: ENSMUSP00000105563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109936] [ENSMUST00000109937] [ENSMUST00000222323] [ENSMUST00000223103] [ENSMUST00000223177] [ENSMUST00000223342]
AlphaFold Q8C5W0
Predicted Effect probably benign
Transcript: ENSMUST00000109936
AA Change: L1011Q

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105562
Gene: ENSMUSG00000021097
AA Change: L1011Q

DomainStartEndE-ValueType
CH 34 137 2.29e-19 SMART
low complexity region 144 168 N/A INTRINSIC
CH 189 286 9.9e-15 SMART
low complexity region 471 482 N/A INTRINSIC
low complexity region 633 650 N/A INTRINSIC
low complexity region 679 691 N/A INTRINSIC
low complexity region 777 801 N/A INTRINSIC
low complexity region 869 887 N/A INTRINSIC
low complexity region 949 965 N/A INTRINSIC
transmembrane domain 996 1013 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109937
AA Change: L1042Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105563
Gene: ENSMUSG00000021097
AA Change: L1042Q

DomainStartEndE-ValueType
CH 34 137 2.29e-19 SMART
low complexity region 144 168 N/A INTRINSIC
CH 189 286 9.9e-15 SMART
low complexity region 471 482 N/A INTRINSIC
low complexity region 633 650 N/A INTRINSIC
low complexity region 679 691 N/A INTRINSIC
low complexity region 777 801 N/A INTRINSIC
low complexity region 869 887 N/A INTRINSIC
low complexity region 949 965 N/A INTRINSIC
transmembrane domain 1027 1044 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000222323
Predicted Effect probably benign
Transcript: ENSMUST00000223103
Predicted Effect probably benign
Transcript: ENSMUST00000223177
Predicted Effect probably benign
Transcript: ENSMUST00000223342
Meta Mutation Damage Score 0.4990 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 100% (86/86)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A T 6: 86,063,899 (GRCm39) E66V probably damaging Het
Aldh1a3 T C 7: 66,062,658 (GRCm39) I156V probably benign Het
Ang4 T A 14: 52,001,725 (GRCm39) K74N probably benign Het
Arcn1 A T 9: 44,670,172 (GRCm39) probably benign Het
Arhgef33 T A 17: 80,655,026 (GRCm39) probably benign Het
Atn1 A G 6: 124,720,188 (GRCm39) probably benign Het
Bmal2 A G 6: 146,724,185 (GRCm39) H359R probably damaging Het
Bmerb1 T C 16: 13,911,795 (GRCm39) L47P probably damaging Het
Brip1 T C 11: 86,083,653 (GRCm39) T123A probably benign Het
Camkv A G 9: 107,823,045 (GRCm39) Y95C probably damaging Het
Cdk12 T A 11: 98,095,211 (GRCm39) S340T probably benign Het
Ckap2l G A 2: 129,138,224 (GRCm39) probably benign Het
Cluh T C 11: 74,554,631 (GRCm39) V737A probably benign Het
Cpne8 A G 15: 90,424,462 (GRCm39) V309A probably benign Het
Cpxm2 T A 7: 131,756,342 (GRCm39) probably benign Het
Csmd3 A T 15: 47,747,073 (GRCm39) probably benign Het
Ctr9 T A 7: 110,650,159 (GRCm39) S818T probably benign Het
Cyp26a1 C T 19: 37,688,405 (GRCm39) A309V probably damaging Het
Dbndd2 C T 2: 164,332,122 (GRCm39) T115I possibly damaging Het
Dhcr7 A G 7: 143,394,964 (GRCm39) N157S probably benign Het
Dlx2 C A 2: 71,375,859 (GRCm39) V155F probably damaging Het
Duox1 A T 2: 122,176,982 (GRCm39) I1470F probably damaging Het
Esrrb A T 12: 86,517,071 (GRCm39) I68F probably benign Het
Fhod3 T A 18: 25,248,862 (GRCm39) L1347* probably null Het
Fip1l1 T C 5: 74,755,721 (GRCm39) probably benign Het
Frem3 A G 8: 81,413,637 (GRCm39) Y1966C probably damaging Het
Gatd3a T C 10: 77,998,539 (GRCm39) D229G probably damaging Het
Ggt5 C T 10: 75,440,604 (GRCm39) R242C possibly damaging Het
Gm14496 G A 2: 181,637,480 (GRCm39) V185I probably benign Het
Gnptab T C 10: 88,265,814 (GRCm39) V409A probably damaging Het
Gramd1a A G 7: 30,837,589 (GRCm39) F390S possibly damaging Het
Helz2 A G 2: 180,872,570 (GRCm39) S2477P probably damaging Het
Hsd17b3 T C 13: 64,236,936 (GRCm39) K3E probably benign Het
Ift172 T C 5: 31,414,715 (GRCm39) H1395R probably benign Het
Jam2 T A 16: 84,609,855 (GRCm39) C180S probably damaging Het
Kalrn A C 16: 33,870,289 (GRCm39) S160A possibly damaging Het
Kcnk3 T C 5: 30,779,979 (GRCm39) I343T probably damaging Het
Kif13a T C 13: 46,967,712 (GRCm39) E334G probably damaging Het
Klhl41 A G 2: 69,508,491 (GRCm39) K482E possibly damaging Het
Lig3 A G 11: 82,689,113 (GRCm39) E794G probably damaging Het
Myh13 T C 11: 67,240,436 (GRCm39) M780T possibly damaging Het
Ndst2 A G 14: 20,779,761 (GRCm39) Y160H probably damaging Het
Ndufb10 T C 17: 24,941,648 (GRCm39) M90V probably damaging Het
Obscn T C 11: 59,024,104 (GRCm39) K522R probably benign Het
Olfml2b T C 1: 170,475,413 (GRCm39) S113P probably benign Het
Or14a257 T A 7: 86,138,698 (GRCm39) E20D probably benign Het
Or4a78 A G 2: 89,497,423 (GRCm39) I269T probably benign Het
Or4d10b T A 19: 12,036,979 (GRCm39) M46L probably benign Het
Or51v14 T C 7: 103,261,444 (GRCm39) T39A probably benign Het
Or6k2 T A 1: 173,986,930 (GRCm39) M197K possibly damaging Het
Parg T C 14: 31,936,511 (GRCm39) probably benign Het
Pde7a C T 3: 19,284,482 (GRCm39) C367Y probably damaging Het
Pigr T A 1: 130,772,281 (GRCm39) C166* probably null Het
Pip4k2c A T 10: 127,036,704 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prkd2 A T 7: 16,599,602 (GRCm39) probably benign Het
Ptprt G T 2: 161,654,059 (GRCm39) probably null Het
Rapgef5 C T 12: 117,610,741 (GRCm39) probably benign Het
Retreg1 T C 15: 25,971,756 (GRCm39) L356P probably benign Het
Rigi T A 4: 40,239,596 (GRCm39) E34V possibly damaging Het
Rnf43 A G 11: 87,622,077 (GRCm39) T393A probably benign Het
Samd3 T C 10: 26,147,725 (GRCm39) S467P probably benign Het
Scarf1 C A 11: 75,405,229 (GRCm39) C89* probably null Het
Sdk1 T C 5: 141,227,779 (GRCm39) L59S probably benign Het
Sgca C T 11: 94,861,512 (GRCm39) W244* probably null Het
Sh3d21 T C 4: 126,045,065 (GRCm39) K538R probably benign Het
Smyd4 T A 11: 75,281,958 (GRCm39) L477Q possibly damaging Het
Sra1 A G 18: 36,801,829 (GRCm39) M87T probably benign Het
Ssh2 T C 11: 77,328,459 (GRCm39) Y336H possibly damaging Het
Steap1 T C 5: 5,790,357 (GRCm39) Y197C probably damaging Het
Strn3 A G 12: 51,673,879 (GRCm39) probably benign Het
Tgm3 A G 2: 129,868,677 (GRCm39) T205A probably benign Het
Tll2 G A 19: 41,101,512 (GRCm39) T374I probably damaging Het
Tmem63b C A 17: 45,971,870 (GRCm39) D782Y possibly damaging Het
Trim10 G A 17: 37,183,283 (GRCm39) S193N probably benign Het
Ttf1 A T 2: 28,963,962 (GRCm39) K613* probably null Het
Tube1 T A 10: 39,010,168 (GRCm39) probably null Het
Uimc1 T A 13: 55,224,222 (GRCm39) probably null Het
Wwp2 G T 8: 108,283,428 (GRCm39) probably benign Het
Zfp101 C T 17: 33,601,418 (GRCm39) V113I probably benign Het
Zfp292 T C 4: 34,809,114 (GRCm39) D1310G probably benign Het
Zfp575 A T 7: 24,285,245 (GRCm39) L132H probably damaging Het
Zmym2 T C 14: 57,194,420 (GRCm39) F1226S probably damaging Het
Zswim6 A C 13: 107,862,989 (GRCm39) noncoding transcript Het
Other mutations in Clmn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01132:Clmn APN 12 104,740,810 (GRCm39) critical splice acceptor site probably null
IGL01509:Clmn APN 12 104,747,162 (GRCm39) missense probably benign 0.00
IGL01530:Clmn APN 12 104,758,115 (GRCm39) missense probably damaging 1.00
IGL01768:Clmn APN 12 104,747,978 (GRCm39) missense probably damaging 0.99
IGL01779:Clmn APN 12 104,748,399 (GRCm39) missense probably benign 0.04
IGL02139:Clmn APN 12 104,747,358 (GRCm39) missense probably benign 0.01
IGL02157:Clmn APN 12 104,748,177 (GRCm39) missense probably benign 0.00
IGL02519:Clmn APN 12 104,758,112 (GRCm39) missense probably damaging 1.00
IGL02820:Clmn APN 12 104,739,493 (GRCm39) missense probably damaging 0.99
IGL03036:Clmn APN 12 104,740,782 (GRCm39) missense probably damaging 0.97
R0255:Clmn UTSW 12 104,748,023 (GRCm39) missense probably benign
R0478:Clmn UTSW 12 104,751,750 (GRCm39) missense probably damaging 0.99
R0739:Clmn UTSW 12 104,747,276 (GRCm39) missense possibly damaging 0.55
R0761:Clmn UTSW 12 104,747,817 (GRCm39) missense probably damaging 0.99
R0834:Clmn UTSW 12 104,738,086 (GRCm39) missense probably damaging 1.00
R0864:Clmn UTSW 12 104,756,274 (GRCm39) missense possibly damaging 0.94
R1569:Clmn UTSW 12 104,747,340 (GRCm39) missense probably damaging 1.00
R1638:Clmn UTSW 12 104,748,281 (GRCm39) missense probably benign 0.13
R1940:Clmn UTSW 12 104,756,361 (GRCm39) missense probably damaging 1.00
R1974:Clmn UTSW 12 104,758,121 (GRCm39) missense probably damaging 1.00
R2113:Clmn UTSW 12 104,747,067 (GRCm39) missense probably benign
R4815:Clmn UTSW 12 104,751,825 (GRCm39) missense probably damaging 1.00
R4863:Clmn UTSW 12 104,763,353 (GRCm39) missense probably damaging 1.00
R4883:Clmn UTSW 12 104,748,307 (GRCm39) missense probably benign 0.04
R5577:Clmn UTSW 12 104,743,329 (GRCm39) missense probably damaging 1.00
R5853:Clmn UTSW 12 104,750,161 (GRCm39) splice site probably null
R5867:Clmn UTSW 12 104,748,014 (GRCm39) missense probably damaging 0.98
R6041:Clmn UTSW 12 104,748,131 (GRCm39) missense probably benign 0.00
R6093:Clmn UTSW 12 104,738,215 (GRCm39) missense probably benign 0.00
R6233:Clmn UTSW 12 104,751,714 (GRCm39) missense probably damaging 1.00
R6239:Clmn UTSW 12 104,747,104 (GRCm39) missense probably benign 0.00
R6628:Clmn UTSW 12 104,740,045 (GRCm39) missense probably damaging 1.00
R6771:Clmn UTSW 12 104,740,041 (GRCm39) missense probably benign 0.04
R7448:Clmn UTSW 12 104,751,687 (GRCm39) missense possibly damaging 0.90
R7633:Clmn UTSW 12 104,748,371 (GRCm39) missense probably benign
R8901:Clmn UTSW 12 104,747,211 (GRCm39) missense probably benign 0.20
R8937:Clmn UTSW 12 104,763,341 (GRCm39) missense probably damaging 1.00
R9654:Clmn UTSW 12 104,748,193 (GRCm39) missense probably damaging 0.99
X0028:Clmn UTSW 12 104,751,661 (GRCm39) missense probably benign 0.11
Z1177:Clmn UTSW 12 104,747,635 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- AAGCTCCTCCAGGACCTTAGGAAC -3'
(R):5'- ACACAAATGGGGACCTCCCTGATG -3'

Sequencing Primer
(F):5'- TTAGTAAGGACTCGCATCTGACC -3'
(R):5'- CAGGATGGTCTTCCAATCATAGG -3'
Posted On 2013-10-16