Incidental Mutation 'R6341:Erc1'
| ID |
514383 |
| 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 |
044495-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6341 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
119547757-119825128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119754959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 464
(L464P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032279]
[ENSMUST00000079582]
[ENSMUST00000183703]
[ENSMUST00000183880]
[ENSMUST00000183911]
[ENSMUST00000184838]
[ENSMUST00000184864]
[ENSMUST00000185143]
[ENSMUST00000185139]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000032279
AA Change: L464P
|
| SMART Domains |
Protein: ENSMUSP00000032279
Gene: ENSMUSG00000030172
AA Change: L464P
| 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 benign
Transcript: ENSMUST00000079582
|
| SMART Domains |
Protein: ENSMUSP00000078534
Gene: ENSMUSG00000030172
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cast
|
3 |
349 |
8.9e-149 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000183703
AA Change: L464P
|
| SMART Domains |
Protein: ENSMUSP00000139031
Gene: ENSMUSG00000030172
AA Change: L464P
| 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
|
| 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 |
unknown
Transcript: ENSMUST00000184838
AA Change: L464P
|
| SMART Domains |
Protein: ENSMUSP00000139030
Gene: ENSMUSG00000030172
AA Change: L464P
| 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: L464P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139256
Gene: ENSMUSG00000030172
AA Change: L464P
| 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
|
| 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| 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 |
|---|
| Acap2 |
T |
C |
16: 30,924,364 (GRCm39) |
D658G |
possibly damaging |
Het |
| Amz2 |
A |
G |
11: 109,319,653 (GRCm39) |
H13R |
probably benign |
Het |
| Ankrd27 |
G |
T |
7: 35,326,828 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
T |
C |
5: 67,840,270 (GRCm39) |
T704A |
possibly damaging |
Het |
| Cabin1 |
A |
T |
10: 75,494,573 (GRCm39) |
M1602K |
probably damaging |
Het |
| Ccdc74a |
T |
C |
16: 17,465,978 (GRCm39) |
S105P |
probably damaging |
Het |
| Cdh26 |
T |
A |
2: 178,113,366 (GRCm39) |
|
probably null |
Het |
| Cxcl10 |
T |
C |
5: 92,496,072 (GRCm39) |
I22V |
probably benign |
Het |
| Cyp2c68 |
A |
C |
19: 39,700,933 (GRCm39) |
V295G |
possibly damaging |
Het |
| Ddx10 |
A |
T |
9: 53,115,551 (GRCm39) |
D594E |
probably benign |
Het |
| Ddx5 |
T |
C |
11: 106,676,368 (GRCm39) |
|
probably null |
Het |
| Duox1 |
T |
C |
2: 122,168,202 (GRCm39) |
I1109T |
probably damaging |
Het |
| Dusp15 |
T |
C |
2: 152,788,204 (GRCm39) |
|
probably null |
Het |
| Ecel1 |
A |
G |
1: 87,078,193 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
T |
G |
15: 83,820,139 (GRCm39) |
Q714P |
possibly damaging |
Het |
| Fam234a |
T |
A |
17: 26,432,667 (GRCm39) |
H494L |
probably damaging |
Het |
| Gfpt1 |
T |
C |
6: 87,065,127 (GRCm39) |
V694A |
probably damaging |
Het |
| Gli2 |
T |
C |
1: 118,763,954 (GRCm39) |
D1399G |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,134,144 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac3 |
A |
G |
18: 38,077,217 (GRCm39) |
L219P |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 94,032,022 (GRCm39) |
F52S |
probably damaging |
Het |
| Ints7 |
C |
A |
1: 191,345,239 (GRCm39) |
T643K |
probably damaging |
Het |
| Ireb2 |
A |
G |
9: 54,816,064 (GRCm39) |
I878M |
probably damaging |
Het |
| Itga3 |
A |
T |
11: 94,946,677 (GRCm39) |
|
probably null |
Het |
| Lrfn5 |
T |
A |
12: 61,890,368 (GRCm39) |
Y552* |
probably null |
Het |
| Mafb |
T |
C |
2: 160,208,371 (GRCm39) |
T76A |
probably damaging |
Het |
| Man2b1 |
A |
T |
8: 85,822,028 (GRCm39) |
S748C |
probably damaging |
Het |
| Mmp15 |
G |
T |
8: 96,092,091 (GRCm39) |
|
probably null |
Het |
| Mmp17 |
A |
T |
5: 129,679,019 (GRCm39) |
R335W |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,355,229 (GRCm39) |
D1005V |
probably damaging |
Het |
| Myh3 |
T |
C |
11: 66,973,822 (GRCm39) |
F165S |
probably benign |
Het |
| Nacc1 |
T |
C |
8: 85,401,420 (GRCm39) |
D419G |
probably benign |
Het |
| Neb |
G |
A |
2: 52,099,486 (GRCm39) |
S4545L |
probably damaging |
Het |
| Niban3 |
C |
T |
8: 72,052,721 (GRCm39) |
P65L |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,339,768 (GRCm39) |
I106T |
probably damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or5b12 |
T |
C |
19: 12,896,843 (GRCm39) |
T277A |
probably benign |
Het |
| Pde4dip |
T |
A |
3: 97,602,227 (GRCm39) |
Q2283L |
probably benign |
Het |
| Phax |
C |
T |
18: 56,706,173 (GRCm39) |
T21M |
possibly damaging |
Het |
| Pitpnm1 |
A |
T |
19: 4,152,829 (GRCm39) |
K79* |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,799,201 (GRCm39) |
F2807I |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,190,572 (GRCm39) |
R427C |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,288,693 (GRCm39) |
F757L |
probably benign |
Het |
| Rad1 |
A |
G |
15: 10,492,907 (GRCm39) |
D208G |
probably damaging |
Het |
| Rangrf |
T |
A |
11: 68,863,538 (GRCm39) |
N156I |
probably benign |
Het |
| Rasl11b |
T |
C |
5: 74,359,037 (GRCm39) |
S181P |
probably damaging |
Het |
| Rigi |
T |
A |
4: 40,222,199 (GRCm39) |
|
probably null |
Het |
| Rlf |
G |
A |
4: 121,006,557 (GRCm39) |
Q808* |
probably null |
Het |
| Rogdi |
G |
T |
16: 4,831,241 (GRCm39) |
|
probably null |
Het |
| Sec24a |
A |
T |
11: 51,608,603 (GRCm39) |
V573D |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,223,615 (GRCm39) |
T200A |
probably damaging |
Het |
| Srgap2 |
C |
T |
1: 131,219,367 (GRCm39) |
R259H |
probably benign |
Het |
| Ssc5d |
T |
A |
7: 4,939,664 (GRCm39) |
V700E |
probably benign |
Het |
| Stt3a |
A |
T |
9: 36,662,592 (GRCm39) |
H222Q |
probably damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,574,193 (GRCm39) |
D6E |
possibly damaging |
Het |
| Tdrd12 |
C |
T |
7: 35,189,473 (GRCm39) |
R421H |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,696,935 (GRCm39) |
M62T |
probably damaging |
Het |
| Trhr |
T |
G |
15: 44,092,694 (GRCm39) |
Y310* |
probably null |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,331,353 (GRCm39) |
T1085A |
probably damaging |
Het |
| Vmn1r179 |
T |
A |
7: 23,628,491 (GRCm39) |
H227Q |
possibly damaging |
Het |
| Vmn1r31 |
A |
T |
6: 58,448,995 (GRCm39) |
M290K |
probably benign |
Het |
| Wdr75 |
T |
C |
1: 45,841,291 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
A |
T |
6: 119,925,546 (GRCm39) |
V1306D |
probably damaging |
Het |
| Xkr4 |
T |
C |
1: 3,741,001 (GRCm39) |
T191A |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,491,567 (GRCm39) |
E265G |
probably benign |
Het |
| Zcchc9 |
A |
G |
13: 91,948,816 (GRCm39) |
F41S |
possibly damaging |
Het |
| Zfp251 |
T |
C |
15: 76,738,337 (GRCm39) |
H247R |
probably damaging |
Het |
| Zfp433 |
A |
G |
10: 81,555,957 (GRCm39) |
E152G |
probably damaging |
Het |
| Zfp770 |
A |
T |
2: 114,027,240 (GRCm39) |
S276R |
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 |
|
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 |
|
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'- GTCAAACTGGTGAACAAATGTCAG -3'
(R):5'- ATGCCTTTGAAAATTGAGTTAGGGG -3'
Sequencing Primer
(F):5'- CTGGTGAACAAATGTCAGTTAAAAG -3'
(R):5'- AATTGAGTTAGGGGAACAGCTTTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation