Incidental Mutation 'IGL01302:Erc1'
ID 73276
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 # IGL01302
Quality Score
Status
Chromosome 6
Chromosomal Location 119547757-119825128 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 119699264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 790 (V790G)
Ref Sequence ENSEMBL: ENSMUSP00000139030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032279] [ENSMUST00000183703] [ENSMUST00000183880] [ENSMUST00000183911] [ENSMUST00000184838] [ENSMUST00000184864] [ENSMUST00000185143] [ENSMUST00000185139]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032279
AA Change: V790G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032279
Gene: ENSMUSG00000030172
AA Change: V790G

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 damaging
Transcript: ENSMUST00000183703
AA Change: V790G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139031
Gene: ENSMUSG00000030172
AA Change: V790G

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 benign
Transcript: ENSMUST00000183880
AA Change: V762G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000138823
Gene: ENSMUSG00000030172
AA Change: V762G

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 probably benign
Transcript: ENSMUST00000183911
AA Change: V758G

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000139118
Gene: ENSMUSG00000030172
AA Change: V758G

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 unknown
Transcript: ENSMUST00000184320
AA Change: V54G
Predicted Effect probably damaging
Transcript: ENSMUST00000184838
AA Change: V790G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139030
Gene: ENSMUSG00000030172
AA Change: V790G

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: ENSMUST00000184864
AA Change: V786G

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139256
Gene: ENSMUSG00000030172
AA Change: V786G

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
AA Change: V490G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000138989
Gene: ENSMUSG00000030172
AA Change: V490G

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
Predicted Effect probably benign
Transcript: ENSMUST00000185139
AA Change: V762G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139152
Gene: ENSMUSG00000030172
AA Change: V762G

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,349,470 (GRCm39) probably benign Het
Abcb5 T A 12: 118,881,935 (GRCm39) D598V probably damaging Het
Adss1 T C 12: 112,601,170 (GRCm39) probably benign Het
Akap9 T A 5: 4,020,711 (GRCm39) S1141T probably benign Het
Avil T C 10: 126,852,903 (GRCm39) probably null Het
Avl9 C A 6: 56,702,075 (GRCm39) H77N probably damaging Het
Cacna1e A G 1: 154,319,653 (GRCm39) V1349A probably damaging Het
Cdc23 A C 18: 34,767,697 (GRCm39) S483A probably benign Het
Cep192 C T 18: 67,991,974 (GRCm39) P1951S probably benign Het
Cp A G 3: 20,020,531 (GRCm39) T175A probably damaging Het
Dubr A C 16: 50,552,998 (GRCm39) noncoding transcript Het
Eif4g2 G T 7: 110,673,920 (GRCm39) Q695K possibly damaging Het
Endod1 A T 9: 14,268,535 (GRCm39) S317T possibly damaging Het
Ep400 T C 5: 110,889,914 (GRCm39) T450A probably benign Het
Fam222a T A 5: 114,732,514 (GRCm39) L23Q possibly damaging Het
Fancf A G 7: 51,511,035 (GRCm39) V323A probably benign Het
Grik2 T A 10: 49,120,426 (GRCm39) Q621L probably damaging Het
Gsk3b G T 16: 38,040,380 (GRCm39) R319L probably benign Het
Ikzf1 A G 11: 11,718,923 (GRCm39) Y297C probably damaging Het
Katnal2 T C 18: 77,134,863 (GRCm39) probably benign Het
Lrba G T 3: 86,202,707 (GRCm39) C289F probably damaging Het
Mos T C 4: 3,871,815 (GRCm39) probably benign Het
Mycn T C 12: 12,987,587 (GRCm39) D270G possibly damaging Het
Or52e15 A T 7: 104,645,928 (GRCm39) M61K probably damaging Het
Or6c207 T A 10: 129,104,392 (GRCm39) I267F probably benign Het
Pclo A G 5: 14,726,013 (GRCm39) probably benign Het
Pgm1 A G 4: 99,786,803 (GRCm39) D14G probably damaging Het
Pramel7 T A 2: 87,321,717 (GRCm39) D106V possibly damaging Het
Prdm9 G T 17: 15,773,608 (GRCm39) H263N probably benign Het
Psd4 T A 2: 24,286,799 (GRCm39) probably null Het
Ptprc G A 1: 138,027,369 (GRCm39) T493I possibly damaging Het
Rbbp8 T A 18: 11,855,036 (GRCm39) S420R probably benign Het
Sap30bp A G 11: 115,853,373 (GRCm39) T219A probably damaging Het
Shld2 C T 14: 33,981,684 (GRCm39) V485I probably benign Het
Slc2a7 T A 4: 150,242,021 (GRCm39) L200Q probably damaging Het
Slc38a6 T A 12: 73,335,299 (GRCm39) probably null Het
Tatdn2 T A 6: 113,680,985 (GRCm39) probably benign Het
Thrb A G 14: 18,011,056 (GRCm38) probably benign Het
Timp4 T C 6: 115,223,269 (GRCm39) Y218C possibly damaging Het
Tlr5 A G 1: 182,802,313 (GRCm39) D525G probably benign Het
Usp32 G T 11: 84,879,308 (GRCm39) T1467N probably benign Het
Vmn2r78 A G 7: 86,564,569 (GRCm39) I5V unknown Het
Zbtb43 T C 2: 33,344,103 (GRCm39) H374R probably benign Het
Zfhx4 C A 3: 5,308,628 (GRCm39) T618K probably damaging Het
Other mutations in Erc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02239:Erc1 APN 6 119,750,852 (GRCm39) missense probably damaging 0.96
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 2013-10-07