Incidental Mutation 'R2037:Erc1'
| ID |
224779 |
| 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 |
040044-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2037 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
119547757-119825128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 119699216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 802
(V802G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032279]
[ENSMUST00000183703]
[ENSMUST00000183880]
[ENSMUST00000183911]
[ENSMUST00000184838]
[ENSMUST00000184864]
[ENSMUST00000185143]
[ENSMUST00000185139]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032279
AA Change: V806G
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032279
Gene: ENSMUSG00000030172
AA Change: V806G
| 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: V806G
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139031
Gene: ENSMUSG00000030172
AA Change: V806G
| 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 benign
Transcript: ENSMUST00000183880
AA Change: V778G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000138823
Gene: ENSMUSG00000030172
AA Change: V778G
| 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: V774G
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139118
Gene: ENSMUSG00000030172
AA Change: V774G
| 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 |
unknown
Transcript: ENSMUST00000184320
AA Change: V70G
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184838
AA Change: V806G
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139030
Gene: ENSMUSG00000030172
AA Change: V806G
| 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: V802G
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139256
Gene: ENSMUSG00000030172
AA Change: V802G
| 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: ENSMUST00000185143
AA Change: V506G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000138989
Gene: ENSMUSG00000030172
AA Change: V506G
| 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 benign
Transcript: ENSMUST00000185139
AA Change: V778G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000139152
Gene: ENSMUSG00000030172
AA Change: V778G
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,980,810 (GRCm39) |
|
probably null |
Het |
| AI987944 |
T |
C |
7: 41,023,815 (GRCm39) |
Y391C |
probably benign |
Het |
| Ankfn1 |
A |
T |
11: 89,346,946 (GRCm39) |
S296T |
probably benign |
Het |
| Apob |
A |
G |
12: 8,057,488 (GRCm39) |
D1957G |
probably benign |
Het |
| Baz1a |
G |
T |
12: 54,976,431 (GRCm39) |
P415Q |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,464,134 (GRCm39) |
H1299Q |
probably benign |
Het |
| C7 |
G |
T |
15: 5,063,720 (GRCm39) |
S227* |
probably null |
Het |
| Catsperb |
A |
T |
12: 101,474,221 (GRCm39) |
R306S |
probably damaging |
Het |
| Cbx3 |
T |
A |
6: 51,448,793 (GRCm39) |
|
probably null |
Het |
| Ccnt2 |
A |
G |
1: 127,731,136 (GRCm39) |
Y671C |
probably damaging |
Het |
| Crocc |
A |
G |
4: 140,774,253 (GRCm39) |
|
probably null |
Het |
| Ctr9 |
G |
A |
7: 110,646,014 (GRCm39) |
V669I |
probably benign |
Het |
| Dck |
T |
G |
5: 88,920,576 (GRCm39) |
Y99D |
probably damaging |
Het |
| Ddx52 |
T |
A |
11: 83,835,432 (GRCm39) |
D119E |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,823,768 (GRCm39) |
K596N |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,621,741 (GRCm39) |
V1128E |
probably benign |
Het |
| Dph1 |
A |
T |
11: 75,076,679 (GRCm39) |
|
probably null |
Het |
| Enah |
G |
A |
1: 181,749,537 (GRCm39) |
P415L |
probably damaging |
Het |
| Enthd1 |
A |
G |
15: 80,444,550 (GRCm39) |
S2P |
possibly damaging |
Het |
| F8 |
ATCTCTCTC |
ATCTCTC |
X: 74,366,604 (GRCm39) |
|
probably null |
Het |
| Fam169a |
C |
A |
13: 97,243,600 (GRCm39) |
A210E |
probably benign |
Het |
| Fcmr |
A |
G |
1: 130,806,070 (GRCm39) |
D342G |
possibly damaging |
Het |
| Fgfr4 |
T |
G |
13: 55,315,702 (GRCm39) |
V743G |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,808,856 (GRCm39) |
D1725G |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,136,934 (GRCm39) |
C195* |
probably null |
Het |
| Herc2 |
G |
A |
7: 55,855,709 (GRCm39) |
A3882T |
probably damaging |
Het |
| Il20 |
T |
A |
1: 130,836,115 (GRCm39) |
N143Y |
probably damaging |
Het |
| Inpp5b |
A |
G |
4: 124,692,092 (GRCm39) |
S892G |
probably damaging |
Het |
| Ipo13 |
A |
T |
4: 117,761,858 (GRCm39) |
Y447* |
probably null |
Het |
| Itprid1 |
A |
G |
6: 55,874,860 (GRCm39) |
N270S |
probably benign |
Het |
| Kbtbd12 |
A |
T |
6: 88,594,779 (GRCm39) |
N350K |
probably benign |
Het |
| Kiz |
T |
C |
2: 146,811,880 (GRCm39) |
F663S |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,433,263 (GRCm39) |
D870G |
probably benign |
Het |
| Methig1 |
C |
T |
15: 100,251,467 (GRCm39) |
A126V |
probably benign |
Het |
| Mme |
A |
G |
3: 63,235,681 (GRCm39) |
D209G |
probably null |
Het |
| Mroh4 |
A |
G |
15: 74,481,610 (GRCm39) |
F811L |
possibly damaging |
Het |
| Myo9b |
G |
T |
8: 71,743,510 (GRCm39) |
K190N |
probably damaging |
Het |
| Ncf1 |
T |
C |
5: 134,258,406 (GRCm39) |
I6V |
probably damaging |
Het |
| Nmt2 |
T |
C |
2: 3,310,618 (GRCm39) |
F121L |
probably damaging |
Het |
| Nol10 |
A |
G |
12: 17,411,152 (GRCm39) |
D183G |
probably benign |
Het |
| Nsun7 |
T |
C |
5: 66,418,429 (GRCm39) |
V53A |
probably benign |
Het |
| Or10u4 |
T |
C |
10: 129,802,009 (GRCm39) |
I187V |
probably benign |
Het |
| Or8j3 |
T |
C |
2: 86,028,176 (GRCm39) |
S307G |
probably benign |
Het |
| Or8k22 |
T |
C |
2: 86,162,774 (GRCm39) |
N309D |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,784,214 (GRCm39) |
Y265* |
probably null |
Het |
| Pigg |
G |
A |
5: 108,486,518 (GRCm39) |
A724T |
probably damaging |
Het |
| Pik3r4 |
C |
T |
9: 105,527,534 (GRCm39) |
R296C |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,431,617 (GRCm39) |
|
probably null |
Het |
| Pld4 |
A |
G |
12: 112,734,992 (GRCm39) |
D483G |
probably damaging |
Het |
| Ppip5k1 |
C |
T |
2: 121,173,674 (GRCm39) |
R399H |
probably damaging |
Het |
| Qrfpr |
A |
T |
3: 36,236,806 (GRCm39) |
H198Q |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,050,748 (GRCm39) |
D883E |
probably damaging |
Het |
| Retnlg |
T |
C |
16: 48,694,615 (GRCm39) |
C88R |
probably damaging |
Het |
| Sin3a |
C |
T |
9: 57,004,109 (GRCm39) |
T287I |
probably benign |
Het |
| Slc44a1 |
GCC |
GCCCCC |
4: 53,563,243 (GRCm39) |
|
probably benign |
Het |
| Sppl2c |
G |
C |
11: 104,077,307 (GRCm39) |
V36L |
probably benign |
Het |
| Srp72 |
T |
A |
5: 77,124,338 (GRCm39) |
I68N |
probably damaging |
Het |
| Srrm3 |
T |
A |
5: 135,883,231 (GRCm39) |
S195R |
probably damaging |
Het |
| Srrm4 |
T |
A |
5: 116,605,887 (GRCm39) |
|
probably benign |
Het |
| Ssb |
A |
G |
2: 69,699,163 (GRCm39) |
S199G |
probably benign |
Het |
| Sult2a6 |
T |
A |
7: 13,988,634 (GRCm39) |
Y42F |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,072,343 (GRCm39) |
T120A |
probably benign |
Het |
| Tas1r1 |
A |
G |
4: 152,112,627 (GRCm39) |
F809L |
probably damaging |
Het |
| Tead3 |
A |
G |
17: 28,555,544 (GRCm39) |
S117P |
probably damaging |
Het |
| Tefm |
C |
T |
11: 80,031,056 (GRCm39) |
R60H |
probably damaging |
Het |
| Tmem104 |
G |
A |
11: 115,092,221 (GRCm39) |
R110H |
possibly damaging |
Het |
| Tnxb |
G |
A |
17: 34,918,179 (GRCm39) |
G2364D |
probably damaging |
Het |
| Vmn1r211 |
T |
A |
13: 23,036,134 (GRCm39) |
I178F |
probably damaging |
Het |
| Vmn1r6 |
A |
T |
6: 56,980,109 (GRCm39) |
Y235F |
probably damaging |
Het |
| Xrcc5 |
C |
A |
1: 72,385,529 (GRCm39) |
T540K |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACCAGGGAGTCTAAGGGG -3'
(R):5'- TGTACAGCTTGGTACCTTGGAC -3'
Sequencing Primer
(F):5'- TCTAAGGGGAAGGCAGCAAGC -3'
(R):5'- GTTTTTGAAAAGAGTTTGCATCAGG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation