Incidental Mutation 'R8022:Ecel1'
ID 617412
Institutional Source Beutler Lab
Gene Symbol Ecel1
Ensembl Gene ENSMUSG00000026247
Gene Name endothelin converting enzyme-like 1
Synonyms XCE, DINE
MMRRC Submission 067461-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8022 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 87075377-87084243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87081052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 313 (I313V)
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: I313V

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027463
Gene: ENSMUSG00000026247
AA Change: I313V

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: I313V

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125557
Gene: ENSMUSG00000026247
AA Change: I313V

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: I313V

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125096
Gene: ENSMUSG00000026247
AA Change: I313V

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: 98.6%
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 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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,361,915 (GRCm39) T1386S probably benign Het
AI661453 T G 17: 47,777,161 (GRCm39) S296A unknown Het
Ambp G T 4: 63,062,434 (GRCm39) N268K probably damaging Het
Ankrd11 T C 8: 123,614,332 (GRCm39) K2503E probably damaging Het
Ap1g1 C A 8: 110,559,367 (GRCm39) R221S possibly damaging Het
Ap5z1 T C 5: 142,455,904 (GRCm39) probably null Het
Aspa A C 11: 73,213,032 (GRCm39) N103K probably benign Het
Bend7 G A 2: 4,757,590 (GRCm39) V211I probably benign Het
Bsn A G 9: 107,991,603 (GRCm39) M1383T probably benign Het
Cad G T 5: 31,226,150 (GRCm39) V1117F probably damaging Het
Cdh2 A G 18: 16,723,358 (GRCm39) L856S probably damaging Het
Cdh20 T A 1: 109,988,838 (GRCm39) S247T probably benign Het
Ces1b A G 8: 93,795,943 (GRCm39) probably null Het
Chd7 T A 4: 8,751,605 (GRCm39) V34E unknown Het
Clca3a2 A T 3: 144,511,527 (GRCm39) F623I probably damaging Het
Cope T G 8: 70,765,453 (GRCm39) M217R probably benign Het
Crim1 T A 17: 78,622,984 (GRCm39) I394N possibly damaging Het
Crnkl1 A T 2: 145,760,486 (GRCm39) I644N probably damaging Het
Cry1 G A 10: 84,982,266 (GRCm39) A360V probably damaging Het
Ctcfl A T 2: 172,960,559 (GRCm39) V8D probably benign Het
Cyp2d34 G A 15: 82,500,315 (GRCm39) Q475* probably null Het
Cyp39a1 T C 17: 44,057,468 (GRCm39) Y436H probably damaging Het
Cyp3a25 T A 5: 145,914,478 (GRCm39) Q484L probably benign Het
Dnah1 A G 14: 30,986,971 (GRCm39) F3607S probably damaging Het
Dnali1 T A 4: 124,959,323 (GRCm39) K23N possibly damaging Het
Ehhadh C A 16: 21,596,570 (GRCm39) A53S probably benign Het
Epcam T C 17: 87,953,736 (GRCm39) S277P probably benign Het
Fbxo10 T C 4: 45,062,062 (GRCm39) I155V possibly damaging Het
Fgd6 A T 10: 93,880,206 (GRCm39) K353N possibly damaging Het
Glce A T 9: 61,967,873 (GRCm39) M426K probably benign Het
Glmp A T 3: 88,233,827 (GRCm39) N228I probably damaging Het
Gm4787 C A 12: 81,424,494 (GRCm39) V555F possibly damaging Het
Gm5114 T A 7: 39,058,800 (GRCm39) H273L probably benign Het
Gzmg T A 14: 56,394,903 (GRCm39) T122S probably benign Het
Hace1 T C 10: 45,577,066 (GRCm39) V820A probably damaging Het
Igf2r T A 17: 12,937,682 (GRCm39) D535V probably damaging Het
Kcnd3 A G 3: 105,366,189 (GRCm39) M20V probably benign Het
Kcnn3 T G 3: 89,517,010 (GRCm39) I473S possibly damaging Het
Klhl35 T A 7: 99,122,446 (GRCm39) F94Y unknown Het
Kmt2c C T 5: 25,486,678 (GRCm39) V4712I possibly damaging Het
Lepr A G 4: 101,639,754 (GRCm39) E740G probably benign Het
Lmod3 T C 6: 97,225,260 (GRCm39) D187G probably benign Het
Lsm3 C T 6: 91,496,543 (GRCm39) H49Y probably benign Het
Lypd10 T A 7: 24,413,599 (GRCm39) I205N possibly damaging Het
Magi1 T C 6: 93,674,346 (GRCm39) S962G probably damaging Het
Man2b1 G A 8: 85,822,242 (GRCm39) R782Q probably damaging Het
Mical2 A T 7: 111,902,974 (GRCm39) K148N probably damaging Het
Nbeal1 C T 1: 60,299,431 (GRCm39) Q1256* probably null Het
Ncam1 G T 9: 49,476,192 (GRCm39) A299D possibly damaging Het
Ncapg A G 5: 45,839,136 (GRCm39) D512G probably damaging Het
Nkiras2 A G 11: 100,515,113 (GRCm39) N28D probably benign Het
Nprl2 A C 9: 107,420,260 (GRCm39) K53T probably damaging Het
Nr4a3 T A 4: 48,051,510 (GRCm39) I88N probably damaging Het
Oas3 A G 5: 120,895,031 (GRCm39) I986T possibly damaging Het
Or6c76 A T 10: 129,612,654 (GRCm39) L305F possibly damaging Het
Pcsk1 A T 13: 75,247,412 (GRCm39) Y187F possibly damaging Het
Pgc A G 17: 48,039,701 (GRCm39) T32A probably benign Het
Ranbp2 A C 10: 58,321,683 (GRCm39) D2660A possibly damaging Het
Retreg1 A G 15: 25,843,565 (GRCm39) R46G Het
Rrbp1 C A 2: 143,798,712 (GRCm39) K1100N probably benign Het
Rsph10b A T 5: 143,904,050 (GRCm39) T676S probably benign Het
Setdb1 A T 3: 95,245,910 (GRCm39) F672I probably damaging Het
Setdb1 T A 3: 95,254,396 (GRCm39) D195V probably damaging Het
Slc12a8 A G 16: 33,445,456 (GRCm39) E450G probably benign Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc25a12 A T 2: 71,105,533 (GRCm39) V667E unknown Het
Slc39a3 T C 10: 80,867,111 (GRCm39) T212A probably benign Het
Slc45a1 C T 4: 150,722,766 (GRCm39) G373S possibly damaging Het
Snx11 G A 11: 96,663,680 (GRCm39) T53M probably damaging Het
Snx33 A G 9: 56,832,624 (GRCm39) F482L possibly damaging Het
Srebf2 C T 15: 82,062,966 (GRCm39) R468C probably damaging Het
Stk32a C T 18: 43,448,166 (GRCm39) Q382* probably null Het
Sun3 C A 11: 8,973,376 (GRCm39) S167I probably damaging Het
Sycp2 A G 2: 177,996,855 (GRCm39) L1116P probably damaging Het
Thbs4 T G 13: 92,888,955 (GRCm39) T913P probably damaging Het
Trav8d-1 C T 14: 53,016,284 (GRCm39) Q57* probably null Het
Trio C G 15: 27,749,952 (GRCm39) V2250L probably benign Het
Unc119b A T 5: 115,265,102 (GRCm39) I204N probably damaging Het
Usp4 A G 9: 108,255,670 (GRCm39) E576G probably damaging Het
Uvssa T A 5: 33,566,848 (GRCm39) L515Q probably damaging Het
Xkr8 T C 4: 132,459,649 (GRCm39) Y43C probably damaging Het
Xpo6 G A 7: 125,768,426 (GRCm39) L94F probably benign Het
Zbtb11 A G 16: 55,826,383 (GRCm39) K804R probably damaging Het
Zfp616 A G 11: 73,974,894 (GRCm39) R479G probably benign Het
Zfp661 T C 2: 127,419,844 (GRCm39) T99A probably benign Het
Zfp839 A T 12: 110,821,532 (GRCm39) Q115H probably damaging Het
Zyg11a C T 4: 108,046,765 (GRCm39) probably null 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
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
R9248:Ecel1 UTSW 1 87,081,112 (GRCm39) missense probably benign 0.00
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'- AGTCACTTTGTTGTACGCGG -3'
(R):5'- CCTGTACCTAGCTCAAGACG -3'

Sequencing Primer
(F):5'- GAGCTGACATCACGACGGAGATC -3'
(R):5'- CTGTACCTAGCTCAAGACGAGGAG -3'
Posted On 2020-01-23