Incidental Mutation 'R4778:Erc1'
| ID |
368080 |
| 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 |
042414-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4778 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
119547757-119825128 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 119774298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032279]
[ENSMUST00000079582]
[ENSMUST00000079582]
[ENSMUST00000183703]
[ENSMUST00000183880]
[ENSMUST00000183911]
[ENSMUST00000183911]
[ENSMUST00000184838]
[ENSMUST00000184864]
[ENSMUST00000184864]
[ENSMUST00000185139]
[ENSMUST00000185143]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032279
|
| SMART Domains |
Protein: ENSMUSP00000032279
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 |
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 null
Transcript: ENSMUST00000079582
|
| SMART Domains |
Protein: ENSMUSP00000078534
Gene: ENSMUSG00000030172
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cast
|
3 |
349 |
8.9e-149 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000079582
|
| SMART Domains |
Protein: ENSMUSP00000078534
Gene: ENSMUSG00000030172
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cast
|
3 |
349 |
8.9e-149 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000183703
|
| SMART Domains |
Protein: ENSMUSP00000139031
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 |
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 null
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 |
probably null
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 |
probably benign
Transcript: ENSMUST00000184838
|
| SMART Domains |
Protein: ENSMUSP00000139030
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 |
942 |
3.5e-291 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000184864
|
| SMART Domains |
Protein: ENSMUSP00000139256
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 |
982 |
2e-288 |
PFAM |
|
Pfam:RBD-FIP
|
1068 |
1108 |
8.7e-14 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000184864
|
| SMART Domains |
Protein: ENSMUSP00000139256
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 |
982 |
2e-288 |
PFAM |
|
Pfam:RBD-FIP
|
1068 |
1108 |
8.7e-14 |
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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
98% (54/55) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,615,342 (GRCm39) |
N1349S |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,989,339 (GRCm39) |
V3541A |
possibly damaging |
Het |
| Arhgap33 |
T |
A |
7: 30,231,518 (GRCm39) |
T156S |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 36,991,214 (GRCm39) |
M897K |
possibly damaging |
Het |
| Card11 |
G |
T |
5: 140,869,537 (GRCm39) |
|
probably null |
Het |
| Cdh3 |
T |
A |
8: 107,270,458 (GRCm39) |
I445N |
probably damaging |
Het |
| Csrp3 |
T |
G |
7: 48,482,311 (GRCm39) |
K169N |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
| Czib |
T |
C |
4: 107,749,195 (GRCm39) |
V64A |
probably damaging |
Het |
| Dpysl3 |
C |
T |
18: 43,487,867 (GRCm39) |
V159I |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,491,363 (GRCm39) |
V3808A |
probably benign |
Het |
| Fbxw19 |
T |
C |
9: 109,323,714 (GRCm39) |
D87G |
probably damaging |
Het |
| Gm1123 |
T |
C |
9: 98,900,560 (GRCm39) |
I99V |
probably benign |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Hand1 |
T |
C |
11: 57,722,449 (GRCm39) |
D55G |
possibly damaging |
Het |
| Lrguk |
T |
A |
6: 34,033,015 (GRCm39) |
I227K |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,683,583 (GRCm39) |
R726* |
probably null |
Het |
| Minar1 |
T |
A |
9: 89,485,155 (GRCm39) |
I81F |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,619,694 (GRCm39) |
V1415E |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,938,011 (GRCm39) |
D901G |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,563,156 (GRCm39) |
Y670H |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,638,924 (GRCm39) |
Y171* |
probably null |
Het |
| Notch4 |
C |
T |
17: 34,801,485 (GRCm39) |
A1111V |
possibly damaging |
Het |
| Nphp4 |
T |
A |
4: 152,640,748 (GRCm39) |
D1038E |
probably benign |
Het |
| Or2ag1b |
A |
C |
7: 106,288,874 (GRCm39) |
S21R |
probably damaging |
Het |
| Or5p60 |
A |
T |
7: 107,723,687 (GRCm39) |
I261N |
possibly damaging |
Het |
| Osbpl10 |
C |
T |
9: 114,938,598 (GRCm39) |
S86L |
probably damaging |
Het |
| Pcsk6 |
G |
A |
7: 65,608,893 (GRCm39) |
G252R |
probably damaging |
Het |
| Pole |
T |
G |
5: 110,478,698 (GRCm39) |
H15Q |
probably benign |
Het |
| Pstpip1 |
A |
G |
9: 56,035,904 (GRCm39) |
D383G |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,426,883 (GRCm39) |
T1551A |
probably benign |
Het |
| Rasgrf2 |
A |
G |
13: 92,131,780 (GRCm39) |
F626L |
probably damaging |
Het |
| Retreg1 |
C |
A |
15: 25,971,871 (GRCm39) |
N394K |
possibly damaging |
Het |
| Rpl7-ps8 |
T |
A |
15: 59,083,252 (GRCm39) |
|
noncoding transcript |
Het |
| Rpp14 |
T |
A |
14: 8,090,203 (GRCm38) |
D42E |
probably benign |
Het |
| Rrp8 |
T |
A |
7: 105,386,481 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Snx1 |
T |
C |
9: 66,008,698 (GRCm39) |
|
probably benign |
Het |
| Stau1 |
A |
T |
2: 166,805,442 (GRCm39) |
N51K |
probably benign |
Het |
| Tdrd5 |
T |
A |
1: 156,083,157 (GRCm39) |
D960V |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,436,468 (GRCm39) |
D750G |
probably damaging |
Het |
| Tmem43 |
T |
C |
6: 91,459,237 (GRCm39) |
V236A |
probably damaging |
Het |
| Tmem89 |
T |
C |
9: 108,744,443 (GRCm39) |
V112A |
probably damaging |
Het |
| Traf7 |
C |
G |
17: 24,729,412 (GRCm39) |
|
probably benign |
Het |
| Vmn1r41 |
A |
C |
6: 89,724,257 (GRCm39) |
K266T |
probably damaging |
Het |
| Vmn2r65 |
T |
C |
7: 84,592,801 (GRCm39) |
K469E |
possibly damaging |
Het |
| Zfp831 |
A |
G |
2: 174,488,600 (GRCm39) |
T1092A |
possibly damaging |
Het |
| Zfp981 |
T |
A |
4: 146,622,112 (GRCm39) |
S346T |
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 |
|
|
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'- AAACAGCTCTTTGGCTTGCC -3'
(R):5'- GGACTGCCATACTTCTTTTCCTGAG -3'
Sequencing Primer
(F):5'- CTCTCGTGCTCAGCATGCAG -3'
(R):5'- CCATACTTCTTTTCCTGAGTTGGGG -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation