Incidental Mutation 'R9372:Crls1'
ID 709356
Institutional Source Beutler Lab
Gene Symbol Crls1
Ensembl Gene ENSMUSG00000027357
Gene Name cardiolipin synthase 1
Synonyms 0610009I22Rik, 4930557M15Rik, 5730490M08Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9372 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 132688586-132708705 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 132707802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 290 (Y290*)
Ref Sequence ENSEMBL: ENSMUSP00000028835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028835] [ENSMUST00000049787] [ENSMUST00000110122] [ENSMUST00000124834] [ENSMUST00000124836] [ENSMUST00000154160]
AlphaFold Q80ZM8
Predicted Effect probably null
Transcript: ENSMUST00000028835
AA Change: Y290*
SMART Domains Protein: ENSMUSP00000028835
Gene: ENSMUSG00000027357
AA Change: Y290*

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: ENSMUST00000049787
SMART Domains Protein: ENSMUSP00000057005
Gene: ENSMUSG00000043110

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LRR 105 126 7.36e0 SMART
LRR_TYP 128 151 3.44e-4 SMART
LRR 153 175 1.19e1 SMART
LRR 176 199 1.53e1 SMART
LRR 205 228 2.03e1 SMART
LRR 229 253 3.36e2 SMART
LRRCT 311 363 6.92e-2 SMART
low complexity region 520 530 N/A INTRINSIC
FN3 577 656 3.73e-10 SMART
transmembrane domain 679 701 N/A INTRINSIC
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 null
Transcript: ENSMUST00000124836
AA Change: Y175*
SMART Domains Protein: ENSMUSP00000132682
Gene: ENSMUSG00000027357
AA Change: Y175*

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 1 175 1.6e-12 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000154160
AA Change: Y190*
SMART Domains Protein: ENSMUSP00000129137
Gene: ENSMUSG00000027357
AA Change: Y190*

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 7 187 1.8e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Aass T C 6: 23,078,856 (GRCm39) T719A probably damaging Het
Abcb8 A G 5: 24,605,114 (GRCm39) E100G probably benign Het
Actr1b C T 1: 36,741,561 (GRCm39) E104K probably damaging Het
Atad5 T A 11: 79,985,094 (GRCm39) S60R possibly damaging Het
Bcan G T 3: 87,895,610 (GRCm39) A842D probably benign Het
Cacna2d2 G A 9: 107,394,802 (GRCm39) E623K probably benign Het
Cdk15 T C 1: 59,370,142 (GRCm39) Y393H probably benign Het
Ceacam12 C T 7: 17,803,229 (GRCm39) R212C probably benign Het
Ceacam5 T C 7: 17,481,267 (GRCm39) I338T possibly damaging Het
Crcp A G 5: 130,088,664 (GRCm39) D139G possibly damaging Het
Dcun1d5 A G 9: 7,206,780 (GRCm39) N206D probably damaging Het
Dmtf1 A T 5: 9,190,399 (GRCm39) V105E possibly damaging Het
Dnah7a T C 1: 53,543,474 (GRCm39) Y2232C probably benign Het
Dnajc25 T A 4: 59,003,394 (GRCm39) V55E probably damaging Het
Dpy19l4 T C 4: 11,303,343 (GRCm39) M193V possibly damaging Het
Dsc1 A T 18: 20,221,489 (GRCm39) V662E probably damaging Het
Enpp6 G A 8: 47,506,627 (GRCm39) V144I possibly damaging Het
Fip1l1 A G 5: 74,707,463 (GRCm39) T204A possibly damaging Het
Flvcr2 T C 12: 85,793,795 (GRCm39) V57A probably benign Het
Fsip2 T G 2: 82,822,756 (GRCm39) I6163S possibly damaging Het
Gipr T A 7: 18,896,863 (GRCm39) M136L probably benign Het
Gm7298 A G 6: 121,748,746 (GRCm39) I674V probably benign Het
Gtf2a1 C T 12: 91,534,592 (GRCm39) V221I probably damaging Het
Haus3 A T 5: 34,321,002 (GRCm39) D481E probably benign Het
Hinfp A C 9: 44,209,083 (GRCm39) V345G probably damaging Het
Hs3st5 A T 10: 36,708,698 (GRCm39) K78* probably null Het
Ighv1-31 T C 12: 114,792,894 (GRCm39) Y114C probably damaging Het
Ighv5-15 T A 12: 113,790,357 (GRCm39) T88S probably damaging Het
Ildr1 G A 16: 36,542,721 (GRCm39) D418N probably damaging Het
Ints10 C T 8: 69,271,967 (GRCm39) T556I probably damaging Het
Isoc1 G T 18: 58,792,757 (GRCm39) R65L possibly damaging Het
Itm2c C T 1: 85,833,055 (GRCm39) R130C probably damaging Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Kif11 T C 19: 37,399,892 (GRCm39) V793A probably benign Het
Klrg1 A C 6: 122,256,699 (GRCm39) V29G probably benign Het
Lrch4 A G 5: 137,631,953 (GRCm39) T114A possibly damaging Het
Map3k3 C T 11: 106,033,335 (GRCm39) T196M probably damaging Het
Marchf1 C A 8: 66,921,145 (GRCm39) T274N probably benign Het
Nxpe5 A T 5: 138,249,445 (GRCm39) T412S probably benign Het
Or10q1 C T 19: 13,727,069 (GRCm39) H200Y probably benign Het
Pcnt A G 10: 76,258,960 (GRCm39) W502R probably damaging Het
Pfdn5 T C 15: 102,235,286 (GRCm39) probably null Het
Pkn2 A T 3: 142,535,018 (GRCm39) V232E probably damaging Het
Ppfibp1 T C 6: 146,898,307 (GRCm39) S88P probably damaging Het
Prr23a4 A G 9: 98,785,478 (GRCm39) I48V probably benign Het
Ptprz1 G A 6: 23,045,706 (GRCm39) E2159K probably damaging Het
Smyd3 T C 1: 178,871,470 (GRCm39) E303G possibly damaging Het
Snx13 T A 12: 35,151,048 (GRCm39) N336K possibly damaging Het
Src A G 2: 157,311,808 (GRCm39) E512G possibly damaging Het
Stard9 T A 2: 120,495,420 (GRCm39) C98* probably null Het
Tapbpl A G 6: 125,203,672 (GRCm39) V336A probably benign Het
Tbrg1 G A 9: 37,563,945 (GRCm39) T230I probably damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmem132c G A 5: 127,640,145 (GRCm39) G772D probably damaging Het
Tmem219 C T 7: 126,496,017 (GRCm39) G119S possibly damaging Het
Ttbk2 T A 2: 120,603,766 (GRCm39) S325C probably benign Het
Ttc28 A T 5: 111,331,073 (GRCm39) Y431F probably benign Het
Vmn1r27 A T 6: 58,192,746 (GRCm39) M86K possibly damaging Het
Vmn2r15 G A 5: 109,441,953 (GRCm39) P160L possibly damaging Het
Zfc3h1 A T 10: 115,221,223 (GRCm39) S41C unknown Het
Zfp260 C A 7: 29,804,232 (GRCm39) T44K probably benign Het
Zfp7 TGCGGGAAAGGTTTCCACCTGAGCG TGCG 15: 76,774,800 (GRCm39) probably benign Het
Zfp760 A G 17: 21,941,035 (GRCm39) N70S probably benign Het
Zfp788 T A 7: 41,299,708 (GRCm39) Y781* probably null Het
Zfp800 A T 6: 28,256,433 (GRCm39) S52T possibly damaging 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
R6477:Crls1 UTSW 2 132,703,153 (GRCm39) missense probably benign 0.01
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
R9571:Crls1 UTSW 2 132,691,793 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGTCTTAAAGGAAGCCGTG -3'
(R):5'- GATCGAGCTTATTTTCGCCG -3'

Sequencing Primer
(F):5'- GTCTTAAAGGAAGCCGTGAATTTTG -3'
(R):5'- GAGCTTATTTTCGCCGTACATTTC -3'
Posted On 2022-04-18