Incidental Mutation 'R5260:Erc1'
| ID |
401370 |
| 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 |
042829-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5260 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
119547757-119825128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119738120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 574
(N574K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139256
(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 |
possibly damaging
Transcript: ENSMUST00000032279
AA Change: N574K
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032279
Gene: ENSMUSG00000030172
AA Change: N574K
| 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: ENSMUST00000183703
AA Change: N574K
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139031
Gene: ENSMUSG00000030172
AA Change: N574K
| 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 damaging
Transcript: ENSMUST00000183880
AA Change: N546K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138823
Gene: ENSMUSG00000030172
AA Change: N546K
| 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: N546K
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139118
Gene: ENSMUSG00000030172
AA Change: N546K
| 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: N574K
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139030
Gene: ENSMUSG00000030172
AA Change: N574K
| 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 damaging
Transcript: ENSMUST00000184864
AA Change: N574K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139256
Gene: ENSMUSG00000030172
AA Change: N574K
| 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: N546K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139152
Gene: ENSMUSG00000030172
AA Change: N546K
| 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 damaging
Transcript: ENSMUST00000185143
AA Change: N274K
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138989
Gene: ENSMUSG00000030172
AA Change: N274K
| 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 |
|
| Meta Mutation Damage Score |
0.1573 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas2 |
A |
T |
7: 132,461,003 (GRCm39) |
I14F |
probably damaging |
Het |
| Acin1 |
T |
C |
14: 54,880,279 (GRCm39) |
|
probably benign |
Het |
| Adamts9 |
C |
A |
6: 92,784,118 (GRCm39) |
V1579L |
probably benign |
Het |
| Adra2a |
T |
A |
19: 54,035,039 (GRCm39) |
C132S |
probably damaging |
Het |
| Aif1 |
T |
A |
17: 35,390,917 (GRCm39) |
|
probably null |
Het |
| Atf5 |
A |
T |
7: 44,464,510 (GRCm39) |
Y27* |
probably null |
Het |
| Atm |
A |
G |
9: 53,417,911 (GRCm39) |
S799P |
probably damaging |
Het |
| Bmp2k |
T |
G |
5: 97,235,210 (GRCm39) |
|
probably benign |
Het |
| Chaf1a |
C |
T |
17: 56,372,000 (GRCm39) |
H723Y |
probably damaging |
Het |
| Clint1 |
T |
C |
11: 45,798,769 (GRCm39) |
W493R |
probably damaging |
Het |
| Cyb561a3 |
T |
A |
19: 10,565,230 (GRCm39) |
V198D |
possibly damaging |
Het |
| Cyp2j8 |
T |
C |
4: 96,389,301 (GRCm39) |
E174G |
possibly damaging |
Het |
| Cyp4v3 |
C |
T |
8: 45,760,017 (GRCm39) |
G512S |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,919,393 (GRCm39) |
V1122D |
probably benign |
Het |
| Doc2b |
C |
A |
11: 75,676,989 (GRCm39) |
G128V |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,127,016 (GRCm39) |
V1378A |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 77,028,477 (GRCm39) |
S421T |
possibly damaging |
Het |
| Efcab6 |
T |
G |
15: 83,829,324 (GRCm39) |
D672A |
probably benign |
Het |
| Eif2ak3 |
C |
A |
6: 70,870,113 (GRCm39) |
H933Q |
probably damaging |
Het |
| Eri2 |
A |
T |
7: 119,387,069 (GRCm39) |
|
probably benign |
Het |
| Faxc |
A |
G |
4: 21,948,744 (GRCm39) |
Y152C |
probably damaging |
Het |
| Fbxl7 |
T |
A |
15: 26,543,585 (GRCm39) |
Y354F |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,883,046 (GRCm39) |
I2526N |
possibly damaging |
Het |
| Gm5424 |
A |
T |
10: 61,907,374 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6728 |
T |
C |
6: 136,463,701 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
A |
T |
16: 36,733,503 (GRCm39) |
S917C |
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,942,062 (GRCm39) |
|
probably benign |
Het |
| Gusb |
A |
T |
5: 130,028,829 (GRCm39) |
Y220* |
probably null |
Het |
| Gvin3 |
A |
G |
7: 106,198,411 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
G |
1: 150,471,612 (GRCm39) |
V4914A |
possibly damaging |
Het |
| Iars2 |
C |
A |
1: 185,055,931 (GRCm39) |
C211F |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,211,058 (GRCm39) |
L802P |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,625,602 (GRCm39) |
E624G |
probably damaging |
Het |
| Kmt2d |
G |
T |
15: 98,740,741 (GRCm39) |
|
probably benign |
Het |
| Krt82 |
C |
A |
15: 101,456,823 (GRCm39) |
G186C |
possibly damaging |
Het |
| Lca5 |
G |
A |
9: 83,305,276 (GRCm39) |
R177C |
probably damaging |
Het |
| Mab21l4 |
A |
T |
1: 93,087,700 (GRCm39) |
V51E |
probably damaging |
Het |
| Mier1 |
T |
C |
4: 103,019,907 (GRCm39) |
S318P |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,894,195 (GRCm39) |
I1207N |
probably damaging |
Het |
| Oog4 |
C |
T |
4: 143,164,424 (GRCm39) |
G369D |
probably benign |
Het |
| Or4c126 |
A |
G |
2: 89,824,526 (GRCm39) |
D263G |
probably damaging |
Het |
| Or4k52 |
A |
G |
2: 111,611,526 (GRCm39) |
Y287C |
probably damaging |
Het |
| Or52d13 |
A |
G |
7: 103,109,822 (GRCm39) |
F198L |
probably benign |
Het |
| Or5d35 |
A |
C |
2: 87,855,818 (GRCm39) |
I251L |
probably benign |
Het |
| Plec |
T |
C |
15: 76,060,824 (GRCm39) |
T3060A |
probably damaging |
Het |
| Plekhh2 |
C |
T |
17: 84,884,593 (GRCm39) |
T769I |
probably damaging |
Het |
| Prkaa1 |
A |
T |
15: 5,190,149 (GRCm39) |
S65C |
probably damaging |
Het |
| Psma3 |
T |
C |
12: 71,031,416 (GRCm39) |
|
probably benign |
Het |
| Ptpn18 |
T |
A |
1: 34,502,591 (GRCm39) |
|
probably benign |
Het |
| Ptprv |
T |
C |
1: 135,039,998 (GRCm39) |
|
noncoding transcript |
Het |
| Rac1 |
C |
A |
5: 143,493,886 (GRCm39) |
V104L |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,362,479 (GRCm39) |
N61I |
possibly damaging |
Het |
| Sirt7 |
A |
C |
11: 120,511,347 (GRCm39) |
|
probably benign |
Het |
| Srl |
G |
A |
16: 4,300,759 (GRCm39) |
R333* |
probably null |
Het |
| Srprb |
A |
T |
9: 103,079,119 (GRCm39) |
L756Q |
probably damaging |
Het |
| Tchhl1 |
T |
C |
3: 93,378,102 (GRCm39) |
S269P |
probably damaging |
Het |
| Tdo2 |
C |
T |
3: 81,882,630 (GRCm39) |
|
probably null |
Het |
| Teddm1a |
T |
C |
1: 153,767,646 (GRCm39) |
Y37H |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,689,890 (GRCm39) |
Y1899C |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,076,088 (GRCm39) |
T1681A |
probably benign |
Het |
| Timm44 |
G |
T |
8: 4,325,919 (GRCm39) |
|
probably null |
Het |
| Trp73 |
A |
G |
4: 154,147,059 (GRCm39) |
V322A |
possibly damaging |
Het |
| Tsr1 |
A |
C |
11: 74,796,781 (GRCm39) |
E611A |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,685,746 (GRCm39) |
N2290S |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,679,276 (GRCm39) |
V4828A |
possibly damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wnt9b |
C |
A |
11: 103,622,875 (GRCm39) |
S176I |
possibly damaging |
Het |
| Zfp329 |
A |
G |
7: 12,540,453 (GRCm39) |
|
probably benign |
Het |
| Zfp352 |
T |
A |
4: 90,112,697 (GRCm39) |
V279D |
probably damaging |
Het |
| Zfp932 |
C |
T |
5: 110,157,501 (GRCm39) |
Q400* |
probably null |
Het |
| Zxdc |
T |
A |
6: 90,359,075 (GRCm39) |
L569Q |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGTGGCCAAATAGTCTGTC -3'
(R):5'- TCCTGTGCACTGCCTATGTG -3'
Sequencing Primer
(F):5'- GGTGGCCAAATAGTCTGTCAATTTC -3'
(R):5'- GCACTGCCTATGTGCTTTTTAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation