Incidental Mutation 'R7486:Erc1'
| ID |
580159 |
| 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 |
045560-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7486 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
119547757-119825128 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 119571907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 1022
(Q1022*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032279]
[ENSMUST00000183703]
[ENSMUST00000183880]
[ENSMUST00000183911]
[ENSMUST00000184838]
[ENSMUST00000184864]
[ENSMUST00000185139]
[ENSMUST00000185143]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032279
AA Change: Q1022*
|
| SMART Domains |
Protein: ENSMUSP00000032279
Gene: ENSMUSG00000030172
AA Change: Q1022*
| 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: ENSMUST00000183703
AA Change: Q1022*
|
| SMART Domains |
Protein: ENSMUSP00000139031
Gene: ENSMUSG00000030172
AA Change: Q1022*
| 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 null
Transcript: ENSMUST00000183911
AA Change: Q990*
|
| SMART Domains |
Protein: ENSMUSP00000139118
Gene: ENSMUSG00000030172
AA Change: Q990*
| 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: ENSMUST00000184320
|
| 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 null
Transcript: ENSMUST00000184864
AA Change: Q1018*
|
| SMART Domains |
Protein: ENSMUSP00000139256
Gene: ENSMUSG00000030172
AA Change: Q1018*
| 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: 99.7%
- 20x: 99.0%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
T |
C |
12: 81,605,657 (GRCm39) |
I702V |
probably benign |
Het |
| Adgre5 |
T |
C |
8: 84,450,515 (GRCm39) |
E815G |
probably damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,523,330 (GRCm39) |
V298A |
|
Het |
| Akp3 |
A |
G |
1: 87,053,201 (GRCm39) |
D91G |
probably damaging |
Het |
| Ano8 |
A |
G |
8: 71,937,642 (GRCm39) |
|
probably null |
Het |
| Blvra |
T |
C |
2: 126,929,243 (GRCm39) |
S136P |
unknown |
Het |
| Cacul1 |
T |
A |
19: 60,568,868 (GRCm39) |
M97L |
probably benign |
Het |
| Ccdc80 |
T |
C |
16: 44,946,542 (GRCm39) |
V827A |
probably damaging |
Het |
| Cep68 |
T |
C |
11: 20,192,166 (GRCm39) |
E11G |
probably benign |
Het |
| Cfap221 |
A |
T |
1: 119,851,322 (GRCm39) |
V813E |
possibly damaging |
Het |
| Chd6 |
A |
G |
2: 160,791,923 (GRCm39) |
V2478A |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,807,783 (GRCm39) |
F148S |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,503,362 (GRCm39) |
I863F |
probably damaging |
Het |
| Cnnm2 |
T |
C |
19: 46,750,513 (GRCm39) |
V101A |
possibly damaging |
Het |
| Cpne8 |
A |
T |
15: 90,400,109 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
T |
G |
7: 130,668,192 (GRCm39) |
C483G |
unknown |
Het |
| Dnah7b |
G |
A |
1: 46,329,894 (GRCm39) |
G3246D |
probably damaging |
Het |
| Dnajc3 |
C |
A |
14: 119,209,816 (GRCm39) |
T297K |
probably benign |
Het |
| Dpm3 |
A |
G |
3: 89,174,034 (GRCm39) |
|
probably null |
Het |
| Eef2k |
A |
G |
7: 120,457,793 (GRCm39) |
N51D |
probably benign |
Het |
| Ercc5 |
T |
A |
1: 44,187,224 (GRCm39) |
M1K |
probably null |
Het |
| Fam114a2 |
C |
T |
11: 57,404,515 (GRCm39) |
G83D |
probably damaging |
Het |
| Fat4 |
C |
A |
3: 39,011,576 (GRCm39) |
Y2225* |
probably null |
Het |
| Frk |
G |
A |
10: 34,423,292 (GRCm39) |
W123* |
probably null |
Het |
| Gm11568 |
T |
A |
11: 99,749,292 (GRCm39) |
C166S |
unknown |
Het |
| Gpr153 |
A |
G |
4: 152,366,858 (GRCm39) |
D337G |
probably benign |
Het |
| Gpt2 |
T |
C |
8: 86,252,235 (GRCm39) |
F517L |
probably damaging |
Het |
| Gsg1 |
C |
T |
6: 135,214,427 (GRCm39) |
E361K |
probably benign |
Het |
| Hsfy2 |
G |
A |
1: 56,676,130 (GRCm39) |
R136* |
probably null |
Het |
| Insm1 |
G |
A |
2: 146,065,738 (GRCm39) |
R518H |
probably damaging |
Het |
| Kank1 |
G |
A |
19: 25,388,193 (GRCm39) |
C622Y |
probably damaging |
Het |
| Katnb1 |
T |
A |
8: 95,825,357 (GRCm39) |
S640R |
probably damaging |
Het |
| Kcnmb4 |
A |
G |
10: 116,254,180 (GRCm39) |
V199A |
probably benign |
Het |
| Lamb1 |
T |
G |
12: 31,337,441 (GRCm39) |
S391A |
probably benign |
Het |
| Larp7-ps |
A |
T |
4: 92,079,506 (GRCm39) |
V105E |
probably benign |
Het |
| Macf1 |
T |
G |
4: 123,303,374 (GRCm39) |
D376A |
probably benign |
Het |
| Map7d1 |
C |
A |
4: 126,128,179 (GRCm39) |
R614L |
unknown |
Het |
| Mcm8 |
C |
T |
2: 132,681,440 (GRCm39) |
R667W |
probably damaging |
Het |
| Med13l |
C |
T |
5: 118,866,539 (GRCm39) |
T531I |
probably benign |
Het |
| Mstn |
G |
T |
1: 53,103,128 (GRCm39) |
A155S |
probably damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,434,690 (GRCm39) |
R2251K |
probably damaging |
Het |
| Myo19 |
T |
C |
11: 84,796,463 (GRCm39) |
S692P |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,325,120 (GRCm39) |
N2514K |
probably benign |
Het |
| Nkd2 |
T |
A |
13: 73,995,561 (GRCm39) |
|
probably benign |
Het |
| Nox3 |
T |
A |
17: 3,720,219 (GRCm39) |
Y322F |
probably damaging |
Het |
| Nt5dc1 |
A |
G |
10: 34,275,805 (GRCm39) |
Y135H |
probably benign |
Het |
| Oog3 |
T |
A |
4: 143,884,742 (GRCm39) |
H398L |
probably benign |
Het |
| Or10g9 |
T |
A |
9: 39,912,181 (GRCm39) |
Y114F |
probably benign |
Het |
| Or12j4 |
C |
T |
7: 140,045,947 (GRCm39) |
|
probably benign |
Het |
| Or1e29 |
T |
C |
11: 73,667,847 (GRCm39) |
Y102C |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,657,849 (GRCm39) |
L1027P |
probably damaging |
Het |
| Pcdh20 |
T |
A |
14: 88,706,050 (GRCm39) |
I417F |
possibly damaging |
Het |
| Pcdha12 |
T |
A |
18: 37,154,610 (GRCm39) |
V443E |
probably damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,803,461 (GRCm39) |
D435G |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,254,270 (GRCm39) |
T853K |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,254,271 (GRCm39) |
T853A |
probably benign |
Het |
| Pgghg |
T |
A |
7: 140,522,393 (GRCm39) |
S57R |
probably benign |
Het |
| Ppm1m |
T |
C |
9: 106,073,810 (GRCm39) |
D301G |
probably damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,642,899 (GRCm39) |
V519A |
probably benign |
Het |
| Prss41 |
ACAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCA |
17: 24,063,072 (GRCm39) |
|
probably benign |
Het |
| Rasa3 |
C |
T |
8: 13,640,201 (GRCm39) |
|
probably null |
Het |
| Robo4 |
T |
C |
9: 37,316,870 (GRCm39) |
V395A |
probably damaging |
Het |
| Scrib |
A |
G |
15: 75,929,499 (GRCm39) |
S1123P |
probably damaging |
Het |
| Setd1b |
A |
G |
5: 123,301,655 (GRCm39) |
K45E |
probably benign |
Het |
| Slc14a1 |
T |
C |
18: 78,154,739 (GRCm39) |
S216G |
probably benign |
Het |
| Slc25a45 |
A |
G |
19: 5,934,997 (GRCm39) |
Y282C |
probably damaging |
Het |
| Slc6a5 |
T |
C |
7: 49,567,078 (GRCm39) |
S255P |
possibly damaging |
Het |
| Smc2 |
A |
T |
4: 52,462,861 (GRCm39) |
Q617L |
possibly damaging |
Het |
| Spo11 |
G |
A |
2: 172,825,870 (GRCm39) |
D103N |
probably benign |
Het |
| Tcf20 |
A |
T |
15: 82,737,935 (GRCm39) |
M1172K |
possibly damaging |
Het |
| Tesc |
T |
A |
5: 118,184,382 (GRCm39) |
S21T |
probably benign |
Het |
| Tie1 |
C |
A |
4: 118,337,101 (GRCm39) |
|
probably null |
Het |
| Trim24 |
T |
G |
6: 37,934,774 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
G |
2: 126,673,115 (GRCm39) |
|
probably null |
Het |
| Unc13d |
T |
C |
11: 115,965,259 (GRCm39) |
D193G |
possibly damaging |
Het |
| Upk3a |
A |
T |
15: 84,902,225 (GRCm39) |
|
probably null |
Het |
| Vmn2r25 |
T |
C |
6: 123,800,101 (GRCm39) |
N747S |
probably damaging |
Het |
| Wipf1 |
GCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCC |
2: 73,270,418 (GRCm39) |
|
probably benign |
Het |
| Zbtb2 |
G |
A |
10: 4,319,025 (GRCm39) |
Q334* |
probably null |
Het |
| Zfp653 |
T |
C |
9: 21,967,824 (GRCm39) |
N494D |
probably damaging |
Het |
| Zfp865 |
A |
G |
7: 5,034,259 (GRCm39) |
D748G |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,755,612 (GRCm39) |
S1014P |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGAACAAGACCTACCTGC -3'
(R):5'- AGTGCAGAGTTCTCCATCTGG -3'
Sequencing Primer
(F):5'- AGACCTACCTGCTCCTGAG -3'
(R):5'- ATTGATGGACTCAGCGATAGTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation