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 |