Incidental Mutation 'PIT4498001:Erc1'
ID |
556063 |
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 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
PIT4498001 (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 T
at 119756452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 435
(F435I)
|
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 |
possibly damaging
Transcript: ENSMUST00000032279
AA Change: F435I
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000032279 Gene: ENSMUSG00000030172 AA Change: F435I
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: ENSMUST00000079582
AA Change: F284I
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000078534 Gene: ENSMUSG00000030172 AA Change: F284I
Domain | Start | End | E-Value | Type |
Pfam:Cast
|
3 |
349 |
8.9e-149 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183703
AA Change: F435I
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000139031 Gene: ENSMUSG00000030172 AA Change: F435I
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: F435I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000138823 Gene: ENSMUSG00000030172 AA Change: F435I
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: F435I
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000139118 Gene: ENSMUSG00000030172 AA Change: F435I
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 damaging
Transcript: ENSMUST00000184838
AA Change: F435I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139030 Gene: ENSMUSG00000030172 AA Change: F435I
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 damaging
Transcript: ENSMUST00000184864
AA Change: F435I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000139256 Gene: ENSMUSG00000030172 AA Change: F435I
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 damaging
Transcript: ENSMUST00000185139
AA Change: F435I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139152 Gene: ENSMUSG00000030172 AA Change: F435I
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 |
|
Coding Region Coverage |
- 1x: 93.2%
- 3x: 91.0%
- 10x: 86.1%
- 20x: 75.4%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh18a1 |
T |
C |
19: 40,562,800 (GRCm39) |
N191S |
probably benign |
Het |
Cacnb2 |
T |
A |
2: 14,879,630 (GRCm39) |
L84* |
probably null |
Het |
Cdhr2 |
C |
T |
13: 54,866,052 (GRCm39) |
T284M |
possibly damaging |
Het |
Defb45 |
T |
C |
2: 152,438,394 (GRCm39) |
|
probably benign |
Het |
Dkk3 |
C |
T |
7: 111,718,679 (GRCm39) |
V236M |
probably benign |
Het |
Dscc1 |
A |
T |
15: 54,945,711 (GRCm39) |
V328D |
probably benign |
Het |
Epha3 |
T |
C |
16: 63,372,889 (GRCm39) |
Y938C |
probably damaging |
Het |
Fbxl5 |
T |
C |
5: 43,908,323 (GRCm39) |
Y626C |
possibly damaging |
Het |
Fmn2 |
A |
G |
1: 174,440,170 (GRCm39) |
R1196G |
probably damaging |
Het |
Gabrr1 |
C |
T |
4: 33,160,225 (GRCm39) |
S303F |
probably damaging |
Het |
Ggt1 |
T |
C |
10: 75,414,689 (GRCm39) |
V169A |
possibly damaging |
Het |
Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
Gm3182 |
T |
A |
14: 4,481,832 (GRCm38) |
C9S |
probably damaging |
Het |
Gpr88 |
A |
C |
3: 116,046,264 (GRCm39) |
S16A |
unknown |
Het |
Kalrn |
A |
T |
16: 33,851,952 (GRCm39) |
M2076K |
possibly damaging |
Het |
Katnip |
A |
G |
7: 125,412,768 (GRCm39) |
T371A |
probably benign |
Het |
Kcnd3 |
T |
C |
3: 105,566,025 (GRCm39) |
I402T |
probably damaging |
Het |
Mink1 |
A |
G |
11: 70,489,714 (GRCm39) |
D57G |
probably benign |
Het |
Ncl |
T |
C |
1: 86,279,162 (GRCm39) |
T584A |
possibly damaging |
Het |
Nfx1 |
A |
T |
4: 40,977,244 (GRCm39) |
Q306L |
probably benign |
Het |
Ogdh |
A |
T |
11: 6,290,504 (GRCm39) |
D374V |
probably benign |
Het |
Or5d39 |
T |
A |
2: 87,980,259 (GRCm39) |
T35S |
probably benign |
Het |
Pak5 |
T |
A |
2: 135,925,211 (GRCm39) |
H697L |
probably damaging |
Het |
Pappa |
T |
C |
4: 65,234,469 (GRCm39) |
C1425R |
probably damaging |
Het |
Pramel26 |
T |
C |
4: 143,539,406 (GRCm39) |
E29G |
possibly damaging |
Het |
Rab3gap2 |
T |
A |
1: 185,013,882 (GRCm39) |
I1196N |
probably damaging |
Het |
Ralyl |
A |
T |
3: 14,172,299 (GRCm39) |
D56V |
probably damaging |
Het |
Scin |
C |
T |
12: 40,119,446 (GRCm39) |
|
probably null |
Het |
Slc25a19 |
T |
C |
11: 115,514,781 (GRCm39) |
I69V |
possibly damaging |
Het |
Slc8a1 |
G |
T |
17: 81,956,269 (GRCm39) |
Y256* |
probably null |
Het |
Smyd1 |
T |
C |
6: 71,196,272 (GRCm39) |
H372R |
probably benign |
Het |
St8sia1 |
T |
C |
6: 142,859,848 (GRCm39) |
T94A |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,527,916 (GRCm39) |
M1391K |
possibly damaging |
Het |
Tlr9 |
G |
A |
9: 106,100,721 (GRCm39) |
R4H |
probably benign |
Het |
Trim50 |
A |
G |
5: 135,382,331 (GRCm39) |
D61G |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,597,295 (GRCm39) |
P19873S |
probably damaging |
Het |
Vmn1r228 |
G |
T |
17: 20,996,772 (GRCm39) |
H249N |
probably benign |
Het |
Vmn2r108 |
C |
T |
17: 20,683,279 (GRCm39) |
G642S |
probably damaging |
Het |
Wdr27 |
A |
G |
17: 15,154,831 (GRCm39) |
S29P |
probably benign |
Het |
Zan |
A |
G |
5: 137,415,298 (GRCm39) |
|
probably null |
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 |
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 |
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'- GCTTGCAATAAGTAAATGGAACCAG -3'
(R):5'- CCCAGCAGCTTCTGTATAGTG -3'
Sequencing Primer
(F):5'- GGAACCAGTAATTCTGACTTCAATTC -3'
(R):5'- GACCTGGAAGAGGAAATTC -3'
|
Posted On |
2019-06-07 |