Incidental Mutation 'IGL01443:Erc1'
| ID |
84322 |
| 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 # |
IGL01443
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
119547757-119825128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119801432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 195
(K195R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032279]
[ENSMUST00000079582]
[ENSMUST00000183703]
[ENSMUST00000183880]
[ENSMUST00000183911]
[ENSMUST00000184838]
[ENSMUST00000185143]
[ENSMUST00000184864]
[ENSMUST00000185139]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032279
AA Change: K195R
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000032279
Gene: ENSMUSG00000030172
AA Change: K195R
| 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: ENSMUST00000079582
AA Change: K44R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078534
Gene: ENSMUSG00000030172
AA Change: K44R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cast
|
3 |
349 |
8.9e-149 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183703
AA Change: K195R
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139031
Gene: ENSMUSG00000030172
AA Change: K195R
| 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: ENSMUST00000183741
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183880
AA Change: K195R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138823
Gene: ENSMUSG00000030172
AA Change: K195R
| 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 |
possibly damaging
Transcript: ENSMUST00000183911
AA Change: K195R
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139118
Gene: ENSMUSG00000030172
AA Change: K195R
| 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 |
possibly damaging
Transcript: ENSMUST00000184838
AA Change: K195R
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139030
Gene: ENSMUSG00000030172
AA Change: K195R
| 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: ENSMUST00000185143
AA Change: K195R
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000138989
Gene: ENSMUSG00000030172
AA Change: K195R
| 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 damaging
Transcript: ENSMUST00000184864
AA Change: K195R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139256
Gene: ENSMUSG00000030172
AA Change: K195R
| 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 damaging
Transcript: ENSMUST00000185139
AA Change: K195R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139152
Gene: ENSMUSG00000030172
AA Change: K195R
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
G |
11: 50,694,690 (GRCm39) |
E1159G |
possibly damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,613,134 (GRCm39) |
Y189C |
probably damaging |
Het |
| AW554918 |
G |
A |
18: 25,478,012 (GRCm39) |
G446R |
probably damaging |
Het |
| Baiap3 |
A |
G |
17: 25,464,121 (GRCm39) |
F884S |
possibly damaging |
Het |
| Cd101 |
T |
C |
3: 100,910,887 (GRCm39) |
T924A |
probably benign |
Het |
| Cdk12 |
T |
A |
11: 98,136,295 (GRCm39) |
V1183E |
unknown |
Het |
| Clcc1 |
T |
C |
3: 108,578,219 (GRCm39) |
M240T |
probably benign |
Het |
| Dnmbp |
C |
A |
19: 43,891,309 (GRCm39) |
A153S |
probably damaging |
Het |
| Dus4l |
T |
C |
12: 31,702,409 (GRCm39) |
|
probably benign |
Het |
| Dyrk1a |
A |
G |
16: 94,485,943 (GRCm39) |
E430G |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,113,280 (GRCm39) |
E1470G |
probably damaging |
Het |
| Extl3 |
A |
T |
14: 65,314,919 (GRCm39) |
S88T |
probably damaging |
Het |
| Fam135b |
A |
T |
15: 71,335,213 (GRCm39) |
H660Q |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,493,613 (GRCm39) |
G3920S |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,666,741 (GRCm39) |
V144A |
probably damaging |
Het |
| Grwd1 |
C |
T |
7: 45,479,834 (GRCm39) |
|
probably null |
Het |
| Hdlbp |
T |
C |
1: 93,358,796 (GRCm39) |
T252A |
probably damaging |
Het |
| Igkv3-1 |
A |
G |
6: 70,681,088 (GRCm39) |
S96G |
possibly damaging |
Het |
| Igkv4-68 |
G |
T |
6: 69,281,921 (GRCm39) |
F83L |
probably damaging |
Het |
| Klhl31 |
T |
C |
9: 77,557,542 (GRCm39) |
V86A |
possibly damaging |
Het |
| Lypd3 |
G |
A |
7: 24,336,063 (GRCm39) |
G17R |
probably benign |
Het |
| Manba |
T |
A |
3: 135,250,589 (GRCm39) |
D405E |
probably damaging |
Het |
| Map3k19 |
A |
G |
1: 127,766,244 (GRCm39) |
S227P |
probably benign |
Het |
| Nras |
T |
A |
3: 102,969,751 (GRCm39) |
C118S |
probably benign |
Het |
| Or52n20 |
A |
G |
7: 104,320,278 (GRCm39) |
D123G |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,973,929 (GRCm39) |
F629L |
probably damaging |
Het |
| Phtf2 |
A |
G |
5: 20,987,265 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 116,017,429 (GRCm39) |
F109L |
probably benign |
Het |
| Plod3 |
G |
A |
5: 137,019,075 (GRCm39) |
R320H |
probably benign |
Het |
| Ppib |
T |
C |
9: 65,972,879 (GRCm39) |
F152L |
probably damaging |
Het |
| Rbm19 |
T |
C |
5: 120,281,503 (GRCm39) |
|
probably benign |
Het |
| Rgs12 |
T |
A |
5: 35,132,563 (GRCm39) |
S628R |
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,199,251 (GRCm39) |
D201G |
probably damaging |
Het |
| Speer4c2 |
A |
G |
5: 15,857,642 (GRCm39) |
*212Q |
probably null |
Het |
| St14 |
G |
T |
9: 31,011,489 (GRCm39) |
S434* |
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,966,560 (GRCm39) |
D387G |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,838,861 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,544,215 (GRCm39) |
R32924C |
probably damaging |
Het |
| Vmn1r181 |
T |
C |
7: 23,684,006 (GRCm39) |
V157A |
possibly damaging |
Het |
| Zfp473 |
C |
T |
7: 44,388,987 (GRCm39) |
D45N |
probably damaging |
Het |
|
| Other mutations in Erc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2013-11-11 |
Incidental Mutation