Incidental Mutation 'R7532:Erc1'
| ID |
583362 |
| 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 |
045604-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7532 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
119547757-119825128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119756592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 388
(D388V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032279
(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
AA Change: D388V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000032279
Gene: ENSMUSG00000030172
AA Change: D388V
| 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 |
possibly damaging
Transcript: ENSMUST00000079582
AA Change: D237V
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000078534
Gene: ENSMUSG00000030172
AA Change: D237V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cast
|
3 |
349 |
8.9e-149 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183703
AA Change: D388V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000139031
Gene: ENSMUSG00000030172
AA Change: D388V
| 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
AA Change: D388V
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000138823
Gene: ENSMUSG00000030172
AA Change: D388V
| 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: D388V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000139118
Gene: ENSMUSG00000030172
AA Change: D388V
| 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: D388V
PolyPhen 2
Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139030
Gene: ENSMUSG00000030172
AA Change: D388V
| 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 |
possibly damaging
Transcript: ENSMUST00000184864
AA Change: D388V
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139256
Gene: ENSMUSG00000030172
AA Change: D388V
| 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
AA Change: D388V
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139152
Gene: ENSMUSG00000030172
AA Change: D388V
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add3 |
T |
A |
19: 53,220,589 (GRCm39) |
I174K |
probably damaging |
Het |
| Ano2 |
A |
T |
6: 125,940,667 (GRCm39) |
I597F |
probably damaging |
Het |
| Ap1g1 |
T |
C |
8: 110,586,796 (GRCm39) |
V813A |
probably damaging |
Het |
| Bpnt1 |
A |
T |
1: 185,084,523 (GRCm39) |
I207F |
possibly damaging |
Het |
| Brinp3 |
T |
A |
1: 146,777,139 (GRCm39) |
W529R |
probably damaging |
Het |
| C2cd2l |
C |
T |
9: 44,226,681 (GRCm39) |
R355Q |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 62,356,915 (GRCm39) |
C784* |
probably null |
Het |
| Cdh20 |
A |
T |
1: 110,065,889 (GRCm39) |
D721V |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,721,193 (GRCm39) |
I994V |
unknown |
Het |
| Cst13 |
T |
G |
2: 148,665,127 (GRCm39) |
Y41D |
probably benign |
Het |
| Cyth2 |
C |
T |
7: 45,457,448 (GRCm39) |
A342T |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,878,700 (GRCm39) |
L563P |
probably damaging |
Het |
| Dclk3 |
T |
G |
9: 111,296,596 (GRCm39) |
S47A |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,618,011 (GRCm39) |
N3183K |
probably benign |
Het |
| Enpp1 |
C |
T |
10: 24,551,885 (GRCm39) |
V165M |
probably benign |
Het |
| Ephx3 |
T |
C |
17: 32,407,763 (GRCm39) |
N173S |
possibly damaging |
Het |
| Esp34 |
T |
G |
17: 38,870,511 (GRCm39) |
V135G |
possibly damaging |
Het |
| Gfy |
G |
A |
7: 44,827,461 (GRCm39) |
P212S |
probably damaging |
Het |
| Gm5239 |
C |
T |
18: 35,669,795 (GRCm39) |
R54C |
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,942,107 (GRCm39) |
F113L |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,837,233 (GRCm39) |
D775V |
probably damaging |
Het |
| Ifrd2 |
T |
G |
9: 107,469,721 (GRCm39) |
S431R |
probably damaging |
Het |
| Impg2 |
G |
A |
16: 56,087,543 (GRCm39) |
A1121T |
probably damaging |
Het |
| Irx1 |
A |
G |
13: 72,108,314 (GRCm39) |
F123L |
possibly damaging |
Het |
| Itgb6 |
C |
T |
2: 60,499,557 (GRCm39) |
V79I |
probably benign |
Het |
| Kcnd3 |
G |
A |
3: 105,575,526 (GRCm39) |
R550H |
probably damaging |
Het |
| Klhl9 |
A |
T |
4: 88,639,090 (GRCm39) |
S384T |
possibly damaging |
Het |
| Kng2 |
T |
C |
16: 22,845,794 (GRCm39) |
|
probably null |
Het |
| Lipo3 |
T |
C |
19: 33,560,464 (GRCm39) |
N67S |
possibly damaging |
Het |
| Mgst1 |
T |
C |
6: 138,130,504 (GRCm39) |
S78P |
probably benign |
Het |
| Ms4a14 |
A |
G |
19: 11,281,323 (GRCm39) |
Y412H |
possibly damaging |
Het |
| Mucl2 |
A |
C |
15: 103,926,318 (GRCm39) |
I124S |
unknown |
Het |
| Myh3 |
A |
G |
11: 66,981,921 (GRCm39) |
M806V |
probably benign |
Het |
| Nelfcd |
T |
C |
2: 174,268,189 (GRCm39) |
L501P |
probably damaging |
Het |
| Nlrp6 |
C |
A |
7: 140,505,097 (GRCm39) |
P748Q |
probably benign |
Het |
| Or1j13 |
C |
T |
2: 36,370,138 (GRCm39) |
M1I |
probably null |
Het |
| Or6n2 |
T |
C |
1: 173,897,664 (GRCm39) |
S267P |
probably benign |
Het |
| Plxna2 |
G |
A |
1: 194,327,127 (GRCm39) |
A354T |
probably benign |
Het |
| Prpf39 |
G |
T |
12: 65,100,145 (GRCm39) |
V273L |
probably benign |
Het |
| Rad9a |
T |
C |
19: 4,251,522 (GRCm39) |
|
probably benign |
Het |
| Rnf135 |
A |
G |
11: 80,089,732 (GRCm39) |
D356G |
probably benign |
Het |
| Rragd |
G |
T |
4: 33,004,166 (GRCm39) |
A153S |
possibly damaging |
Het |
| Selenot |
G |
T |
3: 58,492,653 (GRCm39) |
V47L |
probably benign |
Het |
| Smc2 |
T |
C |
4: 52,451,013 (GRCm39) |
L277P |
probably damaging |
Het |
| Sp7 |
A |
G |
15: 102,267,584 (GRCm39) |
F92S |
possibly damaging |
Het |
| Spata1 |
A |
T |
3: 146,173,946 (GRCm39) |
I380N |
possibly damaging |
Het |
| Spdye4b |
G |
T |
5: 143,180,652 (GRCm39) |
R39S |
possibly damaging |
Het |
| Spmip9 |
T |
C |
6: 70,890,621 (GRCm39) |
K57R |
probably benign |
Het |
| Stom |
C |
A |
2: 35,211,589 (GRCm39) |
R144L |
possibly damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,653,486 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,249,565 (GRCm39) |
T998A |
probably benign |
Het |
| Vcl |
C |
A |
14: 21,079,392 (GRCm39) |
A965D |
probably damaging |
Het |
| Vmn1r69 |
A |
T |
7: 10,314,281 (GRCm39) |
V150D |
probably damaging |
Het |
| Vmn1r90 |
T |
G |
7: 14,295,189 (GRCm39) |
N303T |
possibly damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,059,622 (GRCm39) |
M429K |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,950,106 (GRCm39) |
Y247F |
probably benign |
Het |
| Washc5 |
A |
T |
15: 59,239,260 (GRCm39) |
S168T |
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 |
|
R7486:Erc1
|
UTSW |
6 |
119,571,907 (GRCm39) |
nonsense |
probably null |
|
|
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'- AATGTTCAGGCCTCTGGGAAC -3'
(R):5'- ACTATGTCTGCTTGAGATGGAAG -3'
Sequencing Primer
(F):5'- CTCTGGGAACTGGAGAATCC -3'
(R):5'- CTGCTTGAGATGGAAGGTTGTAAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation