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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |