Incidental Mutation 'R5577:Clmn'
ID 437270
Institutional Source Beutler Lab
Gene Symbol Clmn
Ensembl Gene ENSMUSG00000021097
Gene Name calmin
Synonyms 9330188N17Rik
MMRRC Submission 043132-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5577 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 104729376-104831335 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 104743329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 879 (S879R)
Ref Sequence ENSEMBL: ENSMUSP00000152070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109936] [ENSMUST00000109937] [ENSMUST00000222323] [ENSMUST00000223103] [ENSMUST00000223177] [ENSMUST00000223342]
AlphaFold Q8C5W0
Predicted Effect probably damaging
Transcript: ENSMUST00000109936
AA Change: S879R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105562
Gene: ENSMUSG00000021097
AA Change: S879R

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: S879R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105563
Gene: ENSMUSG00000021097
AA Change: S879R

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 possibly damaging
Transcript: ENSMUST00000222323
AA Change: S74R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000223103
AA Change: S879R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223177
AA Change: S879R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223342
AA Change: S879R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A C 7: 127,835,826 (GRCm39) Y256D probably damaging Het
Acr C A 15: 89,458,441 (GRCm39) T374K probably benign Het
Akt2 G A 7: 27,335,731 (GRCm39) G335R probably damaging Het
Ccn3 T A 15: 54,615,897 (GRCm39) I354N possibly damaging Het
Cd177 A T 7: 24,444,562 (GRCm39) F673Y probably damaging Het
Csrp3 T C 7: 48,489,225 (GRCm39) H19R possibly damaging Het
Dmkn T C 7: 30,463,971 (GRCm39) S137P probably damaging Het
Eno1 C A 4: 150,331,067 (GRCm39) Y236* probably null Het
Enpp7 T A 11: 118,882,953 (GRCm39) N342K probably benign Het
Fancm T A 12: 65,177,185 (GRCm39) probably benign Het
Fshr A T 17: 89,293,351 (GRCm39) D442E probably benign Het
Gm3898 T A 9: 43,741,362 (GRCm39) noncoding transcript Het
Hdac7 A T 15: 97,709,336 (GRCm39) S43T probably benign Het
Herc1 T C 9: 66,389,263 (GRCm39) C3927R probably damaging Het
Klc4 G T 17: 46,946,355 (GRCm39) A490D probably damaging Het
Lcn9 T A 2: 25,713,663 (GRCm39) I63N probably damaging Het
Lgalsl G A 11: 20,779,316 (GRCm39) Q110* probably null Het
Lrp1b A T 2: 40,765,135 (GRCm39) M2783K possibly damaging Het
Lrrk2 A T 15: 91,649,948 (GRCm39) Y1695F probably damaging Het
Myo1e G A 9: 70,277,753 (GRCm39) E817K probably benign Het
Nav3 A T 10: 109,605,264 (GRCm39) D936E probably damaging Het
Necab3 T C 2: 154,387,076 (GRCm39) probably null Het
Nlrp1a T A 11: 70,990,400 (GRCm39) I951F probably damaging Het
Or5v1 T A 17: 37,810,493 (GRCm39) I317K probably benign Het
Or8b52 A G 9: 38,576,297 (GRCm39) I281T possibly damaging Het
Ppp2r5d T C 17: 46,998,901 (GRCm39) S54G probably benign Het
Prdx6 A G 1: 161,071,255 (GRCm39) S146P probably damaging Het
Sec24a A T 11: 51,625,448 (GRCm39) H258Q probably benign Het
Sec31a T C 5: 100,550,133 (GRCm39) T194A possibly damaging Het
Sqstm1 T C 11: 50,098,266 (GRCm39) I167V probably benign Het
Tas1r3 T C 4: 155,946,522 (GRCm39) E361G probably benign Het
Tlr1 T A 5: 65,083,428 (GRCm39) Q383L possibly damaging Het
Trappc8 G C 18: 20,969,836 (GRCm39) Y1051* probably null Het
Vmn2r2 T A 3: 64,024,416 (GRCm39) M722L probably benign Het
Vmn2r43 T C 7: 8,247,811 (GRCm39) H784R probably damaging Het
Zfp534 T G 4: 147,759,173 (GRCm39) K499Q probably damaging 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
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'- AGACCCACCTCCGTTTCTAAAG -3'
(R):5'- CTTGATTTCTGCACAAGGAGC -3'

Sequencing Primer
(F):5'- CACCTCCGTTTCTAAAGTGAAAGG -3'
(R):5'- CAGTGGAGCGGGCTTCTTC -3'
Posted On 2016-10-26