Incidental Mutation 'R7789:Erc1'
| ID |
599731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erc1
|
| Ensembl Gene |
ENSMUSG00000030172 |
| Gene Name |
ELKS/RAB6-interacting/CAST family member 1 |
| Synonyms |
9630025C19Rik, Elks1, 5033405M01Rik, RAB6IP2B, B430107L16Rik, Rab6ip2, RAB6IP2A |
| MMRRC Submission |
045845-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7789 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
119547757-119825128 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 119750670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 353
(R353*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032279]
[ENSMUST00000079582]
[ENSMUST00000183703]
[ENSMUST00000183880]
[ENSMUST00000183911]
[ENSMUST00000184838]
[ENSMUST00000184864]
[ENSMUST00000185139]
[ENSMUST00000185143]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032279
|
| SMART Domains |
Protein: ENSMUSP00000032279
Gene: ENSMUSG00000030172
| 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 null
Transcript: ENSMUST00000079582
AA Change: R353*
|
| SMART Domains |
Protein: ENSMUSP00000078534
Gene: ENSMUSG00000030172
AA Change: R353*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cast
|
3 |
349 |
8.9e-149 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183703
|
| SMART Domains |
Protein: ENSMUSP00000139031
Gene: ENSMUSG00000030172
| 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 |
probably benign
Transcript: ENSMUST00000183880
|
| SMART Domains |
Protein: ENSMUSP00000138823
Gene: ENSMUSG00000030172
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139118
Gene: ENSMUSG00000030172
| 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 |
probably benign
Transcript: ENSMUST00000184838
|
| SMART Domains |
Protein: ENSMUSP00000139030
Gene: ENSMUSG00000030172
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139256
Gene: ENSMUSG00000030172
| 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: ENSMUST00000185139
|
| SMART Domains |
Protein: ENSMUSP00000139152
Gene: ENSMUSG00000030172
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185143
|
| SMART Domains |
Protein: ENSMUSP00000138989
Gene: ENSMUSG00000030172
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
99% (77/78) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
G |
A |
16: 4,682,175 (GRCm39) |
E163K |
probably benign |
Het |
| Adam34 |
T |
A |
8: 44,105,488 (GRCm39) |
R52S |
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,743,623 (GRCm39) |
C328* |
probably null |
Het |
| Ankrd26 |
G |
T |
6: 118,504,760 (GRCm39) |
S716R |
possibly damaging |
Het |
| Ankrd26 |
G |
T |
6: 118,504,759 (GRCm39) |
H717N |
probably damaging |
Het |
| Ankrd40 |
C |
A |
11: 94,225,535 (GRCm39) |
P189T |
probably damaging |
Het |
| Anln |
A |
G |
9: 22,263,333 (GRCm39) |
S113P |
|
Het |
| Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
| Asxl1 |
C |
T |
2: 153,241,943 (GRCm39) |
T832I |
probably benign |
Het |
| Bicd2 |
C |
T |
13: 49,533,135 (GRCm39) |
R574C |
probably damaging |
Het |
| Boll |
T |
C |
1: 55,399,826 (GRCm39) |
|
probably null |
Het |
| Casr |
A |
G |
16: 36,315,653 (GRCm39) |
F806L |
probably damaging |
Het |
| Casz1 |
C |
A |
4: 149,013,863 (GRCm39) |
N142K |
probably benign |
Het |
| Cbl |
C |
T |
9: 44,074,764 (GRCm39) |
D433N |
probably damaging |
Het |
| Ceacam14 |
T |
A |
7: 17,548,096 (GRCm39) |
V62D |
probably damaging |
Het |
| Chst10 |
T |
C |
1: 38,923,532 (GRCm39) |
N18S |
probably benign |
Het |
| Cyp2j6 |
C |
T |
4: 96,433,953 (GRCm39) |
R119H |
probably benign |
Het |
| Cyp4a14 |
C |
G |
4: 115,352,107 (GRCm39) |
V102L |
probably benign |
Het |
| Dnajb3 |
A |
T |
1: 88,133,399 (GRCm39) |
M1K |
probably null |
Het |
| Dnajc6 |
A |
T |
4: 101,475,729 (GRCm39) |
K534M |
possibly damaging |
Het |
| Dnase2a |
T |
C |
8: 85,635,505 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
G |
1: 80,536,930 (GRCm39) |
I985T |
possibly damaging |
Het |
| Emsy |
G |
T |
7: 98,270,696 (GRCm39) |
P436Q |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,529,981 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
T |
A |
18: 58,172,385 (GRCm39) |
D2140V |
probably benign |
Het |
| Fgfr1 |
T |
A |
8: 26,052,329 (GRCm39) |
Y218* |
probably null |
Het |
| Fhod1 |
C |
T |
8: 106,056,740 (GRCm39) |
R1045H |
probably damaging |
Het |
| Focad |
G |
T |
4: 88,147,643 (GRCm39) |
L427F |
unknown |
Het |
| Gbf1 |
T |
A |
19: 46,242,441 (GRCm39) |
L144M |
probably damaging |
Het |
| Glmn |
T |
G |
5: 107,696,941 (GRCm39) |
N592T |
probably benign |
Het |
| Golgb1 |
C |
G |
16: 36,695,761 (GRCm39) |
P87A |
unknown |
Het |
| H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
| Insyn2b |
T |
A |
11: 34,352,537 (GRCm39) |
M193K |
probably benign |
Het |
| Itga9 |
T |
G |
9: 118,487,564 (GRCm39) |
F216V |
possibly damaging |
Het |
| Klhl18 |
T |
C |
9: 110,268,076 (GRCm39) |
D149G |
unknown |
Het |
| Lcat |
C |
T |
8: 106,668,857 (GRCm39) |
V114M |
probably benign |
Het |
| Lrrc8c |
C |
A |
5: 105,755,066 (GRCm39) |
N280K |
probably damaging |
Het |
| Mettl8 |
T |
C |
2: 70,796,806 (GRCm39) |
Y283C |
probably damaging |
Het |
| Mgat4a |
A |
T |
1: 37,529,360 (GRCm39) |
I173K |
probably damaging |
Het |
| Mmp1a |
T |
C |
9: 7,475,266 (GRCm39) |
V345A |
possibly damaging |
Het |
| Mok |
T |
A |
12: 110,778,261 (GRCm39) |
H215L |
probably damaging |
Het |
| Mphosph9 |
C |
G |
5: 124,453,650 (GRCm39) |
E221Q |
probably damaging |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
| Myom1 |
A |
G |
17: 71,424,431 (GRCm39) |
T1525A |
probably benign |
Het |
| Nap1l1 |
C |
T |
10: 111,326,317 (GRCm39) |
S143L |
probably benign |
Het |
| Or1af1 |
C |
T |
2: 37,109,672 (GRCm39) |
T57I |
probably benign |
Het |
| Or2j6 |
A |
T |
7: 139,980,610 (GRCm39) |
Y116* |
probably null |
Het |
| Or52d1 |
T |
A |
7: 103,756,195 (GRCm39) |
S236R |
probably damaging |
Het |
| Or7g29 |
G |
T |
9: 19,286,361 (GRCm39) |
T272K |
probably benign |
Het |
| Plbd2 |
T |
C |
5: 120,623,819 (GRCm39) |
S568G |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,183,168 (GRCm39) |
|
probably null |
Het |
| Plxnc1 |
T |
A |
10: 94,630,339 (GRCm39) |
E1520V |
probably damaging |
Het |
| Ppil3 |
G |
A |
1: 58,473,538 (GRCm39) |
T104I |
possibly damaging |
Het |
| Ptprm |
A |
T |
17: 67,402,534 (GRCm39) |
V118E |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,851,399 (GRCm39) |
D849G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,361,045 (GRCm39) |
|
probably null |
Het |
| Sema3f |
T |
A |
9: 107,582,631 (GRCm39) |
K37N |
probably benign |
Het |
| Sh3glb1 |
G |
T |
3: 144,397,892 (GRCm39) |
|
probably null |
Het |
| Sh3rf3 |
A |
G |
10: 58,922,637 (GRCm39) |
D571G |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,077,150 (GRCm39) |
Y874C |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,782,296 (GRCm39) |
|
probably benign |
Het |
| Snrnp70 |
A |
T |
7: 45,026,045 (GRCm39) |
Y441* |
probably null |
Het |
| Ssrp1 |
C |
T |
2: 84,871,525 (GRCm39) |
R316W |
probably damaging |
Het |
| Syt10 |
A |
T |
15: 89,711,101 (GRCm39) |
V144E |
probably damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,188,117 (GRCm39) |
L562P |
|
Het |
| Trim68 |
T |
C |
7: 102,333,676 (GRCm39) |
D2G |
possibly damaging |
Het |
| Trub2 |
T |
A |
2: 29,667,920 (GRCm39) |
H240L |
probably damaging |
Het |
| Tssc4 |
A |
G |
7: 142,623,515 (GRCm39) |
|
probably null |
Het |
| Usp7 |
T |
A |
16: 8,516,675 (GRCm39) |
Q539L |
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,600,831 (GRCm39) |
C710S |
possibly damaging |
Het |
| Vmn2r99 |
G |
T |
17: 19,614,079 (GRCm39) |
V600F |
possibly damaging |
Het |
| Vps13d |
C |
T |
4: 144,826,635 (GRCm39) |
V2879M |
|
Het |
| Vrtn |
T |
A |
12: 84,697,080 (GRCm39) |
M610K |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,850,806 (GRCm39) |
E366G |
probably benign |
Het |
| Zyg11a |
G |
A |
4: 108,040,845 (GRCm39) |
P703S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGGATAAAAGTTACTGCTTCC -3'
(R):5'- TGTTTTCCAGATTGGCCAGG -3'
Sequencing Primer
(F):5'- CTGCTTCCAAATCTAAATGAATCAGG -3'
(R):5'- TTTCCAGATTGGCCAGGTGAAAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation