Incidental Mutation 'IGL02239:Erc1'
ID 286013
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Erc1
Ensembl Gene ENSMUSG00000030172
Gene Name ELKS/RAB6-interacting/CAST family member 1
Synonyms 9630025C19Rik, Elks1, 5033405M01Rik, RAB6IP2B, B430107L16Rik, Rab6ip2, RAB6IP2A
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02239
Quality Score
Status
Chromosome 6
Chromosomal Location 119547757-119825128 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119750852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 443 (V443A)
Ref Sequence ENSEMBL: ENSMUSP00000138823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032279] [ENSMUST00000079582] [ENSMUST00000183703] [ENSMUST00000183880] [ENSMUST00000183911] [ENSMUST00000184838] [ENSMUST00000185139] [ENSMUST00000184864] [ENSMUST00000185143]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000032279
AA Change: V471A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032279
Gene: ENSMUSG00000030172
AA Change: V471A

DomainStartEndE-ValueType
low complexity region 13 34 N/A INTRINSIC
low complexity region 35 51 N/A INTRINSIC
Pfam:Cast 154 466 1.8e-142 PFAM
Pfam:Cast 453 838 3.5e-163 PFAM
Pfam:Cast 833 986 8e-61 PFAM
Pfam:RBD-FIP 1072 1112 1.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079582
AA Change: V292A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000078534
Gene: ENSMUSG00000030172
AA Change: V292A

DomainStartEndE-ValueType
Pfam:Cast 3 349 8.9e-149 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000183703
AA Change: V471A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139031
Gene: ENSMUSG00000030172
AA Change: V471A

DomainStartEndE-ValueType
low complexity region 13 34 N/A INTRINSIC
low complexity region 35 51 N/A INTRINSIC
Pfam:Cast 154 986 6.9e-291 PFAM
Pfam:RBD-FIP 1072 1112 1.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183872
Predicted Effect probably damaging
Transcript: ENSMUST00000183880
AA Change: V443A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138823
Gene: ENSMUSG00000030172
AA Change: V443A

DomainStartEndE-ValueType
low complexity region 13 34 N/A INTRINSIC
low complexity region 35 51 N/A INTRINSIC
Pfam:Cast 154 914 4.3e-296 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000183911
AA Change: V443A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139118
Gene: ENSMUSG00000030172
AA Change: V443A

DomainStartEndE-ValueType
low complexity region 13 34 N/A INTRINSIC
low complexity region 35 51 N/A INTRINSIC
Pfam:Cast 154 954 4.2e-293 PFAM
Pfam:RBD-FIP 1040 1080 8.5e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000184838
AA Change: V471A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139030
Gene: ENSMUSG00000030172
AA Change: V471A

DomainStartEndE-ValueType
low complexity region 13 34 N/A INTRINSIC
low complexity region 35 51 N/A INTRINSIC
Pfam:Cast 154 942 3.5e-291 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185139
AA Change: V443A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000139152
Gene: ENSMUSG00000030172
AA Change: V443A

DomainStartEndE-ValueType
low complexity region 13 34 N/A INTRINSIC
low complexity region 35 51 N/A INTRINSIC
Pfam:Cast 154 958 3.6e-295 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184864
AA Change: V471A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000139256
Gene: ENSMUSG00000030172
AA Change: V471A

DomainStartEndE-ValueType
low complexity region 13 34 N/A INTRINSIC
low complexity region 35 51 N/A INTRINSIC
Pfam:Cast 154 982 2e-288 PFAM
Pfam:RBD-FIP 1068 1108 8.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185143
SMART Domains Protein: ENSMUSP00000138989
Gene: ENSMUSG00000030172

DomainStartEndE-ValueType
low complexity region 13 34 N/A INTRINSIC
low complexity region 35 51 N/A INTRINSIC
Pfam:Cast 154 224 1.7e-28 PFAM
Pfam:Cast 222 686 8e-145 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for null mutations in this gene display embryonic lethality. Mice heterozygous for a gene trap null allele exhibit increased sensitivity to ionizing radiation-induced lethality, with males being more affected than females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,369,386 (GRCm39) E262G possibly damaging Het
Adgra3 T A 5: 50,118,054 (GRCm39) S1165C probably damaging Het
Akap11 A G 14: 78,751,289 (GRCm39) L366P probably damaging Het
Astn1 T C 1: 158,491,700 (GRCm39) probably null Het
Bhmt2 C T 13: 93,799,687 (GRCm39) G250R probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cntnap2 A G 6: 46,998,588 (GRCm39) D880G probably damaging Het
Fbxw15 A G 9: 109,388,905 (GRCm39) I168T probably benign Het
Fgfr2 C T 7: 129,779,416 (GRCm39) A504T probably damaging Het
Galm A G 17: 80,452,467 (GRCm39) D135G probably damaging Het
Gstp3 C T 19: 4,107,899 (GRCm39) V145I possibly damaging Het
Hspa5 T C 2: 34,662,788 (GRCm39) F115L probably benign Het
Lig4 A C 8: 10,022,473 (GRCm39) S436A probably damaging Het
Ncam1 A G 9: 49,478,702 (GRCm39) V99A probably damaging Het
Nell1 T A 7: 49,899,398 (GRCm39) I336N probably benign Het
Or52ad1 T C 7: 102,995,805 (GRCm39) Y110C probably damaging Het
Or5p55 T C 7: 107,567,254 (GRCm39) S217P probably damaging Het
Or8g20 T A 9: 39,395,857 (GRCm39) I231F probably damaging Het
Patl1 A T 19: 11,914,723 (GRCm39) K625* probably null Het
Qrsl1 G A 10: 43,770,596 (GRCm39) P99S possibly damaging Het
Rfx8 T C 1: 39,720,046 (GRCm39) D343G probably benign Het
Scart2 T C 7: 139,875,756 (GRCm39) F340S probably damaging Het
Serpinb3a T A 1: 106,979,418 (GRCm39) Y28F probably benign Het
Slc6a4 A T 11: 76,917,982 (GRCm39) I575F probably benign Het
Tbx5 T A 5: 120,009,345 (GRCm39) S285T possibly damaging Het
Tmem229a A T 6: 24,955,539 (GRCm39) S72T probably damaging Het
Ttn T C 2: 76,576,748 (GRCm39) D24715G probably damaging Het
Zfp784 T C 7: 5,038,670 (GRCm39) probably benign Het
Zswim2 T A 2: 83,769,107 (GRCm39) K85* probably null Het
Other mutations in Erc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Erc1 APN 6 119,699,264 (GRCm39) missense probably damaging 0.96
IGL01345:Erc1 APN 6 119,738,224 (GRCm39) nonsense probably null
IGL01370:Erc1 APN 6 119,801,426 (GRCm39) missense probably damaging 1.00
IGL01443:Erc1 APN 6 119,801,432 (GRCm39) missense probably damaging 1.00
IGL01550:Erc1 APN 6 119,760,355 (GRCm39) missense probably damaging 0.96
IGL01798:Erc1 APN 6 119,597,298 (GRCm39) missense possibly damaging 0.86
IGL02032:Erc1 APN 6 119,607,570 (GRCm39) missense probably damaging 1.00
IGL02341:Erc1 APN 6 119,571,934 (GRCm39) missense possibly damaging 0.92
couch UTSW 6 119,720,390 (GRCm39) missense possibly damaging 0.81
divan UTSW 6 119,730,249 (GRCm39) missense probably benign 0.27
PIT4498001:Erc1 UTSW 6 119,756,452 (GRCm39) missense possibly damaging 0.92
R0149:Erc1 UTSW 6 119,801,791 (GRCm39) missense probably damaging 1.00
R0277:Erc1 UTSW 6 119,597,289 (GRCm39) missense probably damaging 1.00
R0323:Erc1 UTSW 6 119,597,289 (GRCm39) missense probably damaging 1.00
R1053:Erc1 UTSW 6 119,773,887 (GRCm39) missense probably damaging 1.00
R1252:Erc1 UTSW 6 119,720,353 (GRCm39) missense possibly damaging 0.84
R1355:Erc1 UTSW 6 119,720,381 (GRCm39) nonsense probably null
R1470:Erc1 UTSW 6 119,671,563 (GRCm39) missense probably damaging 1.00
R1470:Erc1 UTSW 6 119,671,563 (GRCm39) missense probably damaging 1.00
R1680:Erc1 UTSW 6 119,552,722 (GRCm39) missense probably damaging 1.00
R1833:Erc1 UTSW 6 119,720,390 (GRCm39) missense possibly damaging 0.81
R1954:Erc1 UTSW 6 119,774,266 (GRCm39) missense probably damaging 1.00
R2037:Erc1 UTSW 6 119,699,216 (GRCm39) missense possibly damaging 0.94
R2365:Erc1 UTSW 6 119,552,656 (GRCm39) missense probably damaging 1.00
R3751:Erc1 UTSW 6 119,801,921 (GRCm39) missense probably damaging 0.99
R4473:Erc1 UTSW 6 119,825,417 (GRCm39) splice site probably null
R4778:Erc1 UTSW 6 119,774,298 (GRCm39) splice site probably null
R4897:Erc1 UTSW 6 119,754,947 (GRCm39) critical splice donor site probably null
R5260:Erc1 UTSW 6 119,738,120 (GRCm39) missense probably damaging 1.00
R5382:Erc1 UTSW 6 119,738,233 (GRCm39) missense probably benign 0.02
R5405:Erc1 UTSW 6 119,801,905 (GRCm39) missense probably damaging 1.00
R5801:Erc1 UTSW 6 119,750,783 (GRCm39) missense probably damaging 0.99
R6341:Erc1 UTSW 6 119,754,959 (GRCm39) missense possibly damaging 0.94
R6588:Erc1 UTSW 6 119,552,687 (GRCm39) missense possibly damaging 0.92
R7441:Erc1 UTSW 6 119,801,912 (GRCm39) missense possibly damaging 0.86
R7486:Erc1 UTSW 6 119,571,907 (GRCm39) nonsense probably null
R7532:Erc1 UTSW 6 119,756,592 (GRCm39) missense probably benign 0.02
R7575:Erc1 UTSW 6 119,801,721 (GRCm39) missense possibly damaging 0.93
R7576:Erc1 UTSW 6 119,801,721 (GRCm39) missense possibly damaging 0.93
R7705:Erc1 UTSW 6 119,801,564 (GRCm39) missense probably benign 0.33
R7740:Erc1 UTSW 6 119,738,149 (GRCm39) missense probably benign 0.02
R7789:Erc1 UTSW 6 119,750,670 (GRCm39) nonsense probably null
R7805:Erc1 UTSW 6 119,690,732 (GRCm39) missense possibly damaging 0.85
R7833:Erc1 UTSW 6 119,801,447 (GRCm39) nonsense probably null
R8039:Erc1 UTSW 6 119,750,626 (GRCm39) nonsense probably null
R8229:Erc1 UTSW 6 119,730,249 (GRCm39) missense probably benign 0.27
R8363:Erc1 UTSW 6 119,730,260 (GRCm39) missense probably benign 0.00
R8794:Erc1 UTSW 6 119,607,616 (GRCm39) missense probably damaging 0.98
R9067:Erc1 UTSW 6 119,774,036 (GRCm39) missense possibly damaging 0.84
R9172:Erc1 UTSW 6 119,801,842 (GRCm39) missense possibly damaging 0.72
R9617:Erc1 UTSW 6 119,773,902 (GRCm39) missense probably benign 0.14
R9744:Erc1 UTSW 6 119,720,360 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16