Incidental Mutation 'R9248:Ecel1'
ID 701345
Institutional Source Beutler Lab
Gene Symbol Ecel1
Ensembl Gene ENSMUSG00000026247
Gene Name endothelin converting enzyme-like 1
Synonyms XCE, DINE
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9248 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 87075377-87084243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87081112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 293 (F293L)
Ref Sequence ENSEMBL: ENSMUSP00000027463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027463] [ENSMUST00000160810] [ENSMUST00000161002]
AlphaFold Q9JMI0
Predicted Effect probably benign
Transcript: ENSMUST00000027463
AA Change: F293L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027463
Gene: ENSMUSG00000026247
AA Change: F293L

DomainStartEndE-ValueType
low complexity region 32 54 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
low complexity region 86 102 N/A INTRINSIC
Pfam:Peptidase_M13_N 124 513 6.4e-112 PFAM
Pfam:Peptidase_M13 571 774 5.2e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160810
AA Change: F293L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125557
Gene: ENSMUSG00000026247
AA Change: F293L

DomainStartEndE-ValueType
low complexity region 32 54 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
low complexity region 86 102 N/A INTRINSIC
Pfam:Peptidase_M13_N 124 513 1.2e-98 PFAM
Pfam:Peptidase_M13 571 774 2.3e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161002
AA Change: F293L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125096
Gene: ENSMUSG00000026247
AA Change: F293L

DomainStartEndE-ValueType
low complexity region 32 54 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
low complexity region 86 102 N/A INTRINSIC
Pfam:Peptidase_M13_N 124 513 6.4e-112 PFAM
Pfam:Peptidase_M13 571 774 5.2e-66 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (55/55)
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 M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
PHENOTYPE: Targeted mutations of this gene result in respiratory distress causing neonatal lethality due to reduced diaphram innervation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T C 9: 118,983,002 (GRCm39) N132S probably benign Het
Agpat2 A G 2: 26,483,601 (GRCm39) *279Q probably null Het
Akr1c19 C A 13: 4,292,974 (GRCm39) D243E probably benign Het
Alg2 A G 4: 47,474,001 (GRCm39) F96L probably benign Het
Apob C T 12: 8,065,231 (GRCm39) Q4067* probably null Het
C1ra A T 6: 124,489,580 (GRCm39) probably benign Het
C8a T C 4: 104,703,199 (GRCm39) Y330C probably damaging Het
Ccdc185 A G 1: 182,576,221 (GRCm39) V156A probably benign Het
Ces1g A G 8: 94,060,319 (GRCm39) L100P possibly damaging Het
Cnbd1 T C 4: 18,862,113 (GRCm39) N359S possibly damaging Het
Crybb2 C T 5: 113,211,094 (GRCm39) A65T probably benign Het
Dcaf5 T C 12: 80,386,563 (GRCm39) D521G probably benign Het
Dnmt1 A G 9: 20,833,408 (GRCm39) F631L possibly damaging Het
Dok1 T A 6: 83,008,893 (GRCm39) D263V possibly damaging Het
Ehmt1 A T 2: 24,738,077 (GRCm39) L509Q possibly damaging Het
Fbln2 T A 6: 91,231,556 (GRCm39) V551E possibly damaging Het
Fig4 C T 10: 41,153,478 (GRCm39) V108I probably benign Het
Gpa33 A G 1: 165,991,396 (GRCm39) Y209C probably damaging Het
Heatr5a T C 12: 51,963,026 (GRCm39) H52R Het
Heatr9 A T 11: 83,409,281 (GRCm39) D157E possibly damaging Het
Jakmip2 A C 18: 43,685,242 (GRCm39) M682R probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Layn A G 9: 50,968,760 (GRCm39) S328P possibly damaging Het
Mblac2 A G 13: 81,859,769 (GRCm39) D41G probably damaging Het
Mboat1 A G 13: 30,410,392 (GRCm39) Y283C probably damaging Het
Mdga2 A G 12: 66,736,226 (GRCm39) V334A possibly damaging Het
Mroh4 C T 15: 74,485,167 (GRCm39) R515H possibly damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nsrp1 G A 11: 76,937,036 (GRCm39) R387W probably benign Het
Or5p59 T C 7: 107,703,256 (GRCm39) S247P probably damaging Het
Or8c16 T C 9: 38,130,706 (GRCm39) Y193H probably benign Het
Ostm1 T C 10: 42,574,210 (GRCm39) V301A probably damaging Het
Pcdhb13 A T 18: 37,577,608 (GRCm39) D662V probably damaging Het
Pfpl T A 19: 12,406,374 (GRCm39) S208R probably damaging Het
Plin5 A T 17: 56,419,324 (GRCm39) V366E probably damaging Het
Rmi1 A G 13: 58,556,899 (GRCm39) I383V probably benign Het
Rnh1 T C 7: 140,740,714 (GRCm39) T414A probably benign Het
Sash1 C A 10: 8,617,296 (GRCm39) G537W probably damaging Het
Slc9c1 A G 16: 45,370,551 (GRCm39) N264S probably benign Het
Speg A C 1: 75,398,420 (GRCm39) T1956P probably damaging Het
St14 T C 9: 31,002,905 (GRCm39) Y666C probably damaging Het
Stab2 T A 10: 86,727,481 (GRCm39) H1448L probably damaging Het
Syne2 C T 12: 76,154,230 (GRCm39) probably benign Het
Taf9 T A 13: 100,790,860 (GRCm39) probably benign Het
Thumpd2 G A 17: 81,334,040 (GRCm39) A516V possibly damaging Het
Tmem132e A G 11: 82,335,308 (GRCm39) K797E probably damaging Het
Tpte A G 8: 22,841,489 (GRCm39) T494A possibly damaging Het
Ttc41 T A 10: 86,567,113 (GRCm39) L593Q probably benign Het
Uggt1 A C 1: 36,249,103 (GRCm39) I279S possibly damaging Het
Uxs1 A G 1: 43,804,084 (GRCm39) F277S probably damaging Het
Vat1 A T 11: 101,351,380 (GRCm39) N320K possibly damaging Het
Wdr81 G T 11: 75,336,256 (GRCm39) A592E Het
Zfp780b C T 7: 27,673,143 (GRCm39) probably null Het
Zfp944 A T 17: 22,562,619 (GRCm39) probably null Het
Zfp956 G T 6: 47,934,437 (GRCm39) G136W possibly damaging Het
Other mutations in Ecel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Ecel1 APN 1 87,080,915 (GRCm39) missense possibly damaging 0.84
IGL01431:Ecel1 APN 1 87,079,226 (GRCm39) missense probably damaging 0.99
IGL01992:Ecel1 APN 1 87,077,577 (GRCm39) splice site probably benign
IGL02040:Ecel1 APN 1 87,082,645 (GRCm39) missense probably benign 0.32
IGL02230:Ecel1 APN 1 87,079,916 (GRCm39) missense probably damaging 1.00
IGL02801:Ecel1 APN 1 87,079,725 (GRCm39) missense probably damaging 1.00
Capulin UTSW 1 87,081,023 (GRCm39) missense probably damaging 0.99
R0139:Ecel1 UTSW 1 87,082,248 (GRCm39) missense possibly damaging 0.95
R1723:Ecel1 UTSW 1 87,082,143 (GRCm39) missense probably benign 0.37
R2118:Ecel1 UTSW 1 87,075,997 (GRCm39) missense probably damaging 1.00
R2119:Ecel1 UTSW 1 87,075,997 (GRCm39) missense probably damaging 1.00
R2120:Ecel1 UTSW 1 87,075,997 (GRCm39) missense probably damaging 1.00
R2122:Ecel1 UTSW 1 87,075,997 (GRCm39) missense probably damaging 1.00
R3815:Ecel1 UTSW 1 87,080,622 (GRCm39) missense probably damaging 0.97
R3836:Ecel1 UTSW 1 87,078,378 (GRCm39) missense probably damaging 1.00
R4211:Ecel1 UTSW 1 87,079,872 (GRCm39) missense probably damaging 1.00
R4685:Ecel1 UTSW 1 87,080,668 (GRCm39) splice site probably null
R4841:Ecel1 UTSW 1 87,081,023 (GRCm39) missense probably damaging 0.99
R4842:Ecel1 UTSW 1 87,081,023 (GRCm39) missense probably damaging 0.99
R4888:Ecel1 UTSW 1 87,076,449 (GRCm39) splice site probably benign
R4976:Ecel1 UTSW 1 87,078,861 (GRCm39) missense probably benign 0.17
R5032:Ecel1 UTSW 1 87,081,975 (GRCm39) missense probably damaging 0.97
R5119:Ecel1 UTSW 1 87,078,861 (GRCm39) missense probably benign 0.17
R5393:Ecel1 UTSW 1 87,080,598 (GRCm39) missense possibly damaging 0.95
R5798:Ecel1 UTSW 1 87,079,205 (GRCm39) missense probably damaging 1.00
R5862:Ecel1 UTSW 1 87,077,318 (GRCm39) missense probably benign 0.19
R5874:Ecel1 UTSW 1 87,075,731 (GRCm39) missense probably benign 0.24
R6341:Ecel1 UTSW 1 87,078,193 (GRCm39) splice site probably null
R6351:Ecel1 UTSW 1 87,077,231 (GRCm39) missense possibly damaging 0.56
R6534:Ecel1 UTSW 1 87,082,564 (GRCm39) missense probably benign 0.13
R7405:Ecel1 UTSW 1 87,081,238 (GRCm39) critical splice donor site probably null
R7422:Ecel1 UTSW 1 87,077,334 (GRCm39) missense probably damaging 1.00
R7850:Ecel1 UTSW 1 87,079,745 (GRCm39) missense probably damaging 1.00
R7939:Ecel1 UTSW 1 87,077,256 (GRCm39) missense probably benign 0.19
R7950:Ecel1 UTSW 1 87,075,991 (GRCm39) missense probably damaging 0.98
R8022:Ecel1 UTSW 1 87,081,052 (GRCm39) missense probably benign 0.34
R8856:Ecel1 UTSW 1 87,079,760 (GRCm39) missense probably damaging 1.00
R8954:Ecel1 UTSW 1 87,076,349 (GRCm39) nonsense probably null
R8967:Ecel1 UTSW 1 87,078,862 (GRCm39) missense probably damaging 0.98
R9395:Ecel1 UTSW 1 87,082,350 (GRCm39) missense probably damaging 0.99
R9487:Ecel1 UTSW 1 87,075,716 (GRCm39) missense probably damaging 1.00
R9620:Ecel1 UTSW 1 87,080,853 (GRCm39) missense possibly damaging 0.65
R9676:Ecel1 UTSW 1 87,079,743 (GRCm39) missense probably damaging 1.00
R9694:Ecel1 UTSW 1 87,080,853 (GRCm39) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- TCACTTTGTTGTACGCGGAG -3'
(R):5'- CAGAGAGAACCCTGTACCTAGC -3'

Sequencing Primer
(F):5'- CACGACGGAGATCATCATATTCTG -3'
(R):5'- CTGTACCTAGCTCAAGACGAGG -3'
Posted On 2022-03-25