Incidental Mutation 'R6477:Crls1'
ID 516826
Institutional Source Beutler Lab
Gene Symbol Crls1
Ensembl Gene ENSMUSG00000027357
Gene Name cardiolipin synthase 1
Synonyms 0610009I22Rik, 4930557M15Rik, 5730490M08Rik
MMRRC Submission 044609-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6477 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 132688586-132708705 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 132703153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 201 (S201L)
Ref Sequence ENSEMBL: ENSMUSP00000028835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028835] [ENSMUST00000110122] [ENSMUST00000124834] [ENSMUST00000124836] [ENSMUST00000154160]
AlphaFold Q80ZM8
Predicted Effect probably benign
Transcript: ENSMUST00000028835
AA Change: S201L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000028835
Gene: ENSMUSG00000027357
AA Change: S201L

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
low complexity region 71 93 N/A INTRINSIC
Pfam:CDP-OH_P_transf 107 288 1.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110122
SMART Domains Protein: ENSMUSP00000105749
Gene: ENSMUSG00000027357

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
low complexity region 71 93 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124834
SMART Domains Protein: ENSMUSP00000129509
Gene: ENSMUSG00000027357

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
low complexity region 71 93 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124836
AA Change: S86L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132682
Gene: ENSMUSG00000027357
AA Change: S86L

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 1 175 1.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154160
AA Change: S101L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000129137
Gene: ENSMUSG00000027357
AA Change: S101L

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 7 187 1.8e-15 PFAM
Meta Mutation Damage Score 0.1086 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 97% (60/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CDP-alcohol phosphatidyltransferase class-I family of proteins. The encoded enzyme catalyzes the synthesis of cardiolipin, a phospholipid component of mitochondrial membranes that is critical for mitochondrial function. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,909,696 (GRCm39) D23G probably benign Het
Abca14 T C 7: 119,924,325 (GRCm39) I1659T probably benign Het
Ankdd1a C T 9: 65,409,494 (GRCm39) V481M probably benign Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Cfap161 T A 7: 83,443,230 (GRCm39) R20* probably null Het
Cops7a A T 6: 124,937,139 (GRCm39) V184E probably damaging Het
Cpa3 T C 3: 20,293,739 (GRCm39) E83G possibly damaging Het
Cyp4f39 C A 17: 32,700,791 (GRCm39) S153R probably damaging Het
Ddx54 T A 5: 120,759,843 (GRCm39) I410N probably damaging Het
Dido1 T A 2: 180,302,274 (GRCm39) T1877S probably benign Het
Dip2c A G 13: 9,673,796 (GRCm39) S1079G probably damaging Het
Dnhd1 G A 7: 105,327,093 (GRCm39) V681I probably benign Het
Dst A G 1: 34,247,809 (GRCm39) probably null Het
Eya2 A G 2: 165,605,681 (GRCm39) T362A probably benign Het
Garre1 A G 7: 33,957,055 (GRCm39) probably null Het
Hgs G A 11: 120,360,481 (GRCm39) V60M probably damaging Het
Inpp4b A G 8: 82,571,343 (GRCm39) probably null Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Kdr C A 5: 76,129,501 (GRCm39) A129S probably benign Het
Lhcgr A T 17: 89,049,801 (GRCm39) M575K probably damaging Het
Lsamp G T 16: 41,988,528 (GRCm39) probably benign Het
Mcm5 T C 8: 75,839,230 (GRCm39) V161A probably benign Het
Mmp14 A T 14: 54,675,115 (GRCm39) H249L probably damaging Het
Mroh5 A G 15: 73,662,604 (GRCm39) S405P probably damaging Het
Mroh9 C A 1: 162,903,873 (GRCm39) L46F probably damaging Het
Mtrr A T 13: 68,718,192 (GRCm39) H357Q probably damaging Het
Myrf G A 19: 10,206,149 (GRCm39) P89L probably benign Het
Mzb1 C T 18: 35,781,311 (GRCm39) probably null Het
Naip6 A G 13: 100,452,516 (GRCm39) S182P probably damaging Het
Nmur2 A T 11: 55,920,417 (GRCm39) F276Y probably damaging Het
Nudt12 G T 17: 59,318,140 (GRCm39) S35Y probably benign Het
Or51h5 T A 7: 102,577,585 (GRCm39) V250E probably damaging Het
Or56b1 T C 7: 104,284,886 (GRCm39) S2P probably benign Het
Or9m1 A G 2: 87,733,334 (GRCm39) S229P probably damaging Het
Osbpl1a T C 18: 12,889,318 (GRCm39) I541V probably benign Het
Parp4 A G 14: 56,884,694 (GRCm39) K1258E probably benign Het
Plcxd2 C G 16: 45,801,022 (GRCm39) K67N probably damaging Het
Pnpla6 A G 8: 3,586,627 (GRCm39) T930A probably benign Het
Pomt1 G A 2: 32,138,728 (GRCm39) probably null Het
Ppp1r14bl A T 1: 23,140,861 (GRCm39) L151Q probably benign Het
Pramel6 A G 2: 87,340,946 (GRCm39) Y426C possibly damaging Het
Prss27 A G 17: 24,263,235 (GRCm39) T83A probably damaging Het
Rbm27 T A 18: 42,466,383 (GRCm39) V915E probably damaging Het
Rnf114 T A 2: 167,345,408 (GRCm39) D10E probably benign Het
Sbk1 A G 7: 125,890,350 (GRCm39) E121G probably damaging Het
Senp6 A T 9: 80,000,907 (GRCm39) R39* probably null Het
Sergef A T 7: 46,283,250 (GRCm39) I94N probably benign Het
Slc30a9 C T 5: 67,485,867 (GRCm39) R183W probably benign Het
Smurf1 C T 5: 144,826,602 (GRCm39) R414H possibly damaging Het
Sptb A T 12: 76,653,166 (GRCm39) W1566R probably damaging Het
Tenm2 T C 11: 35,901,334 (GRCm39) probably null Het
Tnni1 T C 1: 135,733,304 (GRCm39) V42A probably benign Het
Tnxb A G 17: 34,938,513 (GRCm39) Y3098C probably damaging Het
Ubald2 T C 11: 116,325,400 (GRCm39) F46L probably benign Het
Ubqln5 G A 7: 103,777,465 (GRCm39) S453F probably damaging Het
Ubr3 A T 2: 69,809,773 (GRCm39) R1248* probably null Het
Utp20 A G 10: 88,604,780 (GRCm39) V1705A probably benign Het
Zfp60 G A 7: 27,449,228 (GRCm39) R632H probably benign Het
Zfp638 A G 6: 83,942,560 (GRCm39) Y957C probably damaging Het
Zfp825 A T 13: 74,629,029 (GRCm39) S162R possibly damaging Het
Zfp831 A C 2: 174,545,960 (GRCm39) K1355T probably benign Het
Other mutations in Crls1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5526:Crls1 UTSW 2 132,703,165 (GRCm39) missense possibly damaging 0.54
R5635:Crls1 UTSW 2 132,706,062 (GRCm39) missense possibly damaging 0.81
R5932:Crls1 UTSW 2 132,706,087 (GRCm39) nonsense probably null
R6224:Crls1 UTSW 2 132,691,770 (GRCm39) splice site probably null
R7680:Crls1 UTSW 2 132,704,258 (GRCm39) missense probably damaging 1.00
R8872:Crls1 UTSW 2 132,691,819 (GRCm39) missense probably benign 0.45
R9372:Crls1 UTSW 2 132,707,802 (GRCm39) nonsense probably null
R9571:Crls1 UTSW 2 132,691,793 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGTTCTCATTACAAGAAGGAATGG -3'
(R):5'- CACTAGTCATATGTTCAAATTGCAGGG -3'

Sequencing Primer
(F):5'- GGCTTCACCTTAGGGGACTCAATC -3'
(R):5'- CTGCCATAAATAGCTCTCCT -3'
Posted On 2018-05-21