Incidental Mutation 'R7705:Erc1'
| ID |
594229 |
| 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 |
045766-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7705 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
119547757-119825128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119801564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 151
(I151T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032279]
[ENSMUST00000079582]
[ENSMUST00000183703]
[ENSMUST00000183880]
[ENSMUST00000183911]
[ENSMUST00000184838]
[ENSMUST00000184864]
[ENSMUST00000185139]
[ENSMUST00000185143]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032279
AA Change: I151T
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000032279
Gene: ENSMUSG00000030172
AA Change: I151T
| 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 |
probably benign
Transcript: ENSMUST00000183703
AA Change: I151T
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139031
Gene: ENSMUSG00000030172
AA Change: I151T
| 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 |
probably damaging
Transcript: ENSMUST00000183880
AA Change: I151T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138823
Gene: ENSMUSG00000030172
AA Change: I151T
| 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: I151T
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139118
Gene: ENSMUSG00000030172
AA Change: I151T
| 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: I151T
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139030
Gene: ENSMUSG00000030172
AA Change: I151T
| 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: I151T
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139256
Gene: ENSMUSG00000030172
AA Change: I151T
| 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 |
possibly damaging
Transcript: ENSMUST00000185139
AA Change: I151T
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139152
Gene: ENSMUSG00000030172
AA Change: I151T
| 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 |
possibly damaging
Transcript: ENSMUST00000185143
AA Change: I151T
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138989
Gene: ENSMUSG00000030172
AA Change: I151T
| 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 |
0.0697 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (48/48) |
| 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 |
|---|
| Aadacl2fm3 |
G |
A |
3: 59,784,168 (GRCm39) |
A214T |
probably benign |
Het |
| Abcb9 |
G |
T |
5: 124,220,018 (GRCm39) |
Y342* |
probably null |
Het |
| Acad9 |
C |
T |
3: 36,142,675 (GRCm39) |
T470M |
probably benign |
Het |
| Ankmy2 |
A |
G |
12: 36,245,107 (GRCm39) |
E379G |
probably benign |
Het |
| Cand1 |
A |
G |
10: 119,048,343 (GRCm39) |
|
probably null |
Het |
| Ccdc171 |
A |
G |
4: 83,476,193 (GRCm39) |
T203A |
possibly damaging |
Het |
| Cpeb4 |
A |
G |
11: 31,822,327 (GRCm39) |
T14A |
probably damaging |
Het |
| Cplane1 |
T |
G |
15: 8,211,736 (GRCm39) |
F359V |
probably damaging |
Het |
| Crtap |
A |
T |
9: 114,210,747 (GRCm39) |
C276S |
probably damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,168,774 (GRCm39) |
I794V |
probably benign |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Cux2 |
T |
A |
5: 122,007,736 (GRCm39) |
M642L |
probably benign |
Het |
| Dpep1 |
T |
C |
8: 123,927,460 (GRCm39) |
V338A |
possibly damaging |
Het |
| Dytn |
A |
G |
1: 63,717,948 (GRCm39) |
L29P |
probably damaging |
Het |
| E2f3 |
G |
A |
13: 30,169,306 (GRCm39) |
R116C |
probably benign |
Het |
| Edc3 |
T |
C |
9: 57,647,197 (GRCm39) |
V282A |
probably benign |
Het |
| Epha1 |
A |
G |
6: 42,339,602 (GRCm39) |
V630A |
probably damaging |
Het |
| Fam83h |
C |
T |
15: 75,875,699 (GRCm39) |
R546H |
probably damaging |
Het |
| Fbxl14 |
A |
T |
6: 119,457,742 (GRCm39) |
K308* |
probably null |
Het |
| Fbxw24 |
A |
T |
9: 109,437,516 (GRCm39) |
|
probably null |
Het |
| Gldn |
T |
A |
9: 54,245,976 (GRCm39) |
M509K |
probably benign |
Het |
| Gpr139 |
T |
C |
7: 118,743,866 (GRCm39) |
I240V |
probably benign |
Het |
| Herc1 |
G |
T |
9: 66,347,116 (GRCm39) |
M1990I |
possibly damaging |
Het |
| Hmgcr |
A |
G |
13: 96,793,231 (GRCm39) |
I467T |
probably benign |
Het |
| Isl2 |
T |
C |
9: 55,449,685 (GRCm39) |
F85L |
probably benign |
Het |
| Lat |
T |
C |
7: 125,963,612 (GRCm39) |
N197D |
probably damaging |
Het |
| Marchf1 |
T |
C |
8: 66,921,169 (GRCm39) |
V282A |
probably benign |
Het |
| Meiosin |
T |
A |
7: 18,835,044 (GRCm39) |
D393V |
unknown |
Het |
| Mrpl9 |
A |
G |
3: 94,351,075 (GRCm39) |
H85R |
possibly damaging |
Het |
| Mterf2 |
G |
T |
10: 84,956,381 (GRCm39) |
A81E |
probably damaging |
Het |
| Mtr |
A |
G |
13: 12,264,782 (GRCm39) |
C107R |
probably benign |
Het |
| Nlrp4c |
T |
A |
7: 6,075,635 (GRCm39) |
V642E |
probably damaging |
Het |
| Or5b12b |
A |
G |
19: 12,861,871 (GRCm39) |
I209V |
probably benign |
Het |
| Or6c212 |
T |
A |
10: 129,559,018 (GRCm39) |
I132F |
probably benign |
Het |
| Pdik1l |
A |
G |
4: 134,006,804 (GRCm39) |
S112P |
unknown |
Het |
| Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
| Rest |
T |
A |
5: 77,416,119 (GRCm39) |
L111Q |
probably damaging |
Het |
| Slc28a2b |
A |
C |
2: 122,352,110 (GRCm39) |
|
probably null |
Het |
| Spg7 |
A |
C |
8: 123,800,617 (GRCm39) |
D169A |
possibly damaging |
Het |
| Syt3 |
T |
C |
7: 44,042,083 (GRCm39) |
V314A |
possibly damaging |
Het |
| Tbc1d20 |
G |
C |
2: 152,150,004 (GRCm39) |
G144R |
probably damaging |
Het |
| Tlk1 |
A |
T |
2: 70,617,016 (GRCm39) |
|
probably null |
Het |
| Tmem147 |
T |
G |
7: 30,427,716 (GRCm39) |
|
probably null |
Het |
| Trip12 |
A |
T |
1: 84,755,170 (GRCm39) |
D401E |
probably damaging |
Het |
| Ulbp1 |
A |
G |
10: 7,395,685 (GRCm39) |
S291P |
unknown |
Het |
| Usp19 |
A |
G |
9: 108,379,112 (GRCm39) |
D1286G |
possibly damaging |
Het |
| Usp49 |
T |
C |
17: 47,989,873 (GRCm39) |
F553L |
probably damaging |
Het |
| Zfp352 |
A |
G |
4: 90,113,512 (GRCm39) |
T551A |
possibly 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 |
|
|
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 |
|
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'- TGTACAACTCGGTACTGCTCC -3'
(R):5'- TAAAAGCACCATGACACTTGGC -3'
Sequencing Primer
(F):5'- CCTTCCAAATGGTGATTTTGGAAGC -3'
(R):5'- CATGACACTTGGCCGTTCTGG -3'
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| Posted On |
2019-11-12 |
Incidental Mutation