Incidental Mutation 'R6041:Clmn'
ID 483567
Institutional Source Beutler Lab
Gene Symbol Clmn
Ensembl Gene ENSMUSG00000021097
Gene Name calmin
Synonyms 9330188N17Rik
MMRRC Submission 044209-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6041 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 104729376-104831335 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104748131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 472 (V472A)
Ref Sequence ENSEMBL: ENSMUSP00000152070 (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: V472A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000105562
Gene: ENSMUSG00000021097
AA Change: V472A

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 benign
Transcript: ENSMUST00000109937
AA Change: V472A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000105563
Gene: ENSMUSG00000021097
AA Change: V472A

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 noncoding transcript
Transcript: ENSMUST00000222412
Predicted Effect probably benign
Transcript: ENSMUST00000223103
AA Change: V472A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000223177
AA Change: V472A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000223342
AA Change: V472A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Meta Mutation Damage Score 0.0590 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,595,354 (GRCm39) M297K probably damaging Het
Ace A C 11: 105,866,134 (GRCm39) H34P probably benign Het
Agbl2 A T 2: 90,638,371 (GRCm39) N652I probably benign Het
Auh T A 13: 53,073,122 (GRCm39) L86F possibly damaging Het
Bmp10 A G 6: 87,411,302 (GRCm39) K365R probably damaging Het
Cacna1d A T 14: 29,764,314 (GRCm39) S2086T probably damaging Het
Calcoco1 C A 15: 102,626,374 (GRCm39) R105L possibly damaging Het
Casc3 T G 11: 98,719,385 (GRCm39) V509G probably damaging Het
Cyp2b19 A T 7: 26,458,852 (GRCm39) S142C probably damaging Het
Derl3 T C 10: 75,729,335 (GRCm39) L26P probably damaging Het
Dgkh C T 14: 78,825,067 (GRCm39) A863T probably damaging Het
Dhx30 C T 9: 109,913,666 (GRCm39) R1127Q probably benign Het
Dmxl2 A G 9: 54,324,037 (GRCm39) S1116P probably damaging Het
Dnah7b T C 1: 46,328,805 (GRCm39) V3179A probably benign Het
Dnajb11 A T 16: 22,687,471 (GRCm39) N156I probably benign Het
Dpep1 A T 8: 123,927,394 (GRCm39) E316V probably damaging Het
Entrep1 A T 19: 23,962,193 (GRCm39) M270K probably benign Het
F2rl2 T A 13: 95,837,617 (GRCm39) F221I probably benign Het
Flg2 T A 3: 93,127,668 (GRCm39) D173E probably benign Het
Fshr A T 17: 89,293,414 (GRCm39) D421E probably damaging Het
Gfm2 T A 13: 97,309,131 (GRCm39) V612E probably benign Het
Gm17655 T G 5: 110,195,439 (GRCm39) K114N possibly damaging Het
Gm45844 C A 7: 7,281,183 (GRCm39) probably benign Het
Gpr142 A T 11: 114,697,203 (GRCm39) I250F probably damaging Het
Hexa A G 9: 59,470,519 (GRCm39) Q447R probably damaging Het
Leng8 T C 7: 4,148,568 (GRCm39) L780P probably benign Het
Lrrk1 T C 7: 65,911,881 (GRCm39) D1893G probably benign Het
Macf1 T A 4: 123,407,641 (GRCm39) I139F probably damaging Het
Megf10 A T 18: 57,313,621 (GRCm39) T22S probably benign Het
Mup-ps1 C A 4: 60,088,549 (GRCm39) noncoding transcript Het
Myh13 A T 11: 67,255,556 (GRCm39) E1642V probably damaging Het
Myof A G 19: 37,913,068 (GRCm39) Y1462H probably damaging Het
Nipbl T A 15: 8,353,748 (GRCm39) D1765V probably damaging Het
Npy5r A T 8: 67,134,675 (GRCm39) N39K possibly damaging Het
Or5m13b G A 2: 85,753,735 (GRCm39) G41D probably damaging Het
Pax6 A G 2: 105,514,247 (GRCm39) I29V probably damaging Het
Pi4ka A G 16: 17,178,436 (GRCm39) Y307H probably benign Het
Pmf1 A C 3: 88,303,358 (GRCm39) Y68D probably damaging Het
Psen2 C A 1: 180,073,292 (GRCm39) E10* probably null Het
Ptprs T A 17: 56,726,080 (GRCm39) M991L probably benign Het
R3hdm4 A G 10: 79,749,495 (GRCm39) V20A possibly damaging Het
Rad17 T C 13: 100,754,274 (GRCm39) N649D probably benign Het
Rad9b A T 5: 122,489,415 (GRCm39) C38S probably damaging Het
Rapgef2 T C 3: 78,976,469 (GRCm39) M1296V probably benign Het
Rbp3 T C 14: 33,678,439 (GRCm39) S796P probably damaging Het
Rpl10-ps3 A G 9: 50,256,082 (GRCm39) S54P probably benign Het
Sclt1 T A 3: 41,581,612 (GRCm39) I688F probably damaging Het
Scn10a A G 9: 119,438,535 (GRCm39) I1778T probably damaging Het
Scrib C T 15: 75,939,021 (GRCm39) R159Q possibly damaging Het
Senp1 C T 15: 97,956,097 (GRCm39) E441K probably damaging Het
Sipa1l1 T A 12: 82,389,024 (GRCm39) F417I probably damaging Het
Slco1a7 A C 6: 141,684,764 (GRCm39) D230E probably benign Het
Smcr8 A G 11: 60,670,394 (GRCm39) D514G probably damaging Het
Tbc1d23 T G 16: 56,993,513 (GRCm39) D551A probably benign Het
Tet1 G T 10: 62,649,152 (GRCm39) T149N probably damaging Het
Them4 A T 3: 94,224,806 (GRCm39) D61V possibly damaging Het
Trak1 A T 9: 121,289,478 (GRCm39) I597F probably damaging Het
Trank1 A G 9: 111,206,864 (GRCm39) I1666V possibly damaging Het
Vipr2 A C 12: 116,106,604 (GRCm39) N378T probably damaging Het
Zfp804b T C 5: 6,821,231 (GRCm39) R575G probably benign Het
Zfp941 A T 7: 140,392,158 (GRCm39) C400* probably null Het
Zswim5 A C 4: 116,819,818 (GRCm39) S408R probably benign 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
R0834:Clmn UTSW 12 104,738,085 (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
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'- ATGATCTCCAGGGGATGATGG -3'
(R):5'- TTGTCAACCAGAAAGGACGGC -3'

Sequencing Primer
(F):5'- AGGAGGGCCTTTCTCACCTTG -3'
(R):5'- GCAGGAGGTCCAACTCTTTG -3'
Posted On 2017-07-14