Incidental Mutation 'R1833:Erc1'
| ID |
204946 |
| 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 |
039860-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1833 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
119547757-119825128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119720390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 437
(I437T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032279]
[ENSMUST00000183703]
[ENSMUST00000183880]
[ENSMUST00000183911]
[ENSMUST00000184838]
[ENSMUST00000185139]
[ENSMUST00000185143]
[ENSMUST00000184864]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032279
AA Change: I737T
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000032279
Gene: ENSMUSG00000030172
AA Change: I737T
| 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: ENSMUST00000183703
AA Change: I737T
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139031
Gene: ENSMUSG00000030172
AA Change: I737T
| 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
AA Change: I709T
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138823
Gene: ENSMUSG00000030172
AA Change: I709T
| 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
AA Change: I709T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000139118
Gene: ENSMUSG00000030172
AA Change: I709T
| 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: ENSMUST00000184320
AA Change: I5T
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184838
AA Change: I737T
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139030
Gene: ENSMUSG00000030172
AA Change: I737T
| 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: ENSMUST00000185139
AA Change: I709T
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139152
Gene: ENSMUSG00000030172
AA Change: I709T
| 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: I437T
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138989
Gene: ENSMUSG00000030172
AA Change: I437T
| 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: ENSMUST00000184864
AA Change: I737T
PolyPhen 2
Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139256
Gene: ENSMUSG00000030172
AA Change: I737T
| 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 |
|
| Meta Mutation Damage Score |
0.2249 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.9%
|
| Validation Efficiency |
99% (83/84) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,350,509 (GRCm39) |
D143V |
unknown |
Het |
| 4930438A08Rik |
C |
T |
11: 58,179,214 (GRCm39) |
Q183* |
probably null |
Het |
| 9230009I02Rik |
A |
G |
11: 50,982,293 (GRCm39) |
|
noncoding transcript |
Het |
| Abhd12 |
T |
A |
2: 150,690,338 (GRCm39) |
D119V |
probably damaging |
Het |
| Adam1b |
A |
G |
5: 121,641,000 (GRCm39) |
I15T |
possibly damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,613,797 (GRCm39) |
|
probably null |
Het |
| Arfgef1 |
G |
C |
1: 10,275,115 (GRCm39) |
I312M |
probably benign |
Het |
| Arid4a |
C |
T |
12: 71,122,240 (GRCm39) |
L874F |
possibly damaging |
Het |
| Bcas3 |
G |
A |
11: 85,474,775 (GRCm39) |
V317I |
probably benign |
Het |
| Ccr1 |
T |
A |
9: 123,764,126 (GRCm39) |
I135F |
probably damaging |
Het |
| Ces2h |
A |
G |
8: 105,747,005 (GRCm39) |
E547G |
possibly damaging |
Het |
| Ces3b |
T |
A |
8: 105,812,271 (GRCm39) |
D173E |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,244,949 (GRCm39) |
L1197S |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,968,983 (GRCm39) |
L1175P |
probably damaging |
Het |
| Cyp4f17 |
T |
C |
17: 32,743,184 (GRCm39) |
F286L |
probably benign |
Het |
| Dclre1a |
C |
T |
19: 56,529,932 (GRCm39) |
|
probably null |
Het |
| Dennd6a |
T |
A |
14: 26,328,109 (GRCm39) |
L44H |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,196,511 (GRCm39) |
T560A |
probably benign |
Het |
| Dusp12 |
T |
C |
1: 170,702,022 (GRCm39) |
M326V |
probably benign |
Het |
| Eif3k |
T |
C |
7: 28,670,852 (GRCm39) |
I180V |
probably benign |
Het |
| Farp2 |
T |
A |
1: 93,504,086 (GRCm39) |
|
probably benign |
Het |
| Foxa3 |
A |
G |
7: 18,748,499 (GRCm39) |
L209P |
probably damaging |
Het |
| Garin2 |
G |
A |
12: 78,762,280 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
A |
T |
12: 11,298,352 (GRCm39) |
|
probably benign |
Het |
| Gm10305 |
A |
G |
4: 99,161,363 (GRCm39) |
T91A |
unknown |
Het |
| Gm14412 |
T |
C |
2: 177,007,583 (GRCm39) |
D104G |
probably benign |
Het |
| Gm6900 |
T |
C |
7: 10,390,515 (GRCm39) |
|
noncoding transcript |
Het |
| Gpx1 |
A |
T |
9: 108,216,555 (GRCm39) |
Y15F |
possibly damaging |
Het |
| H2-M10.3 |
T |
C |
17: 36,678,387 (GRCm39) |
Y146C |
probably damaging |
Het |
| H2-Q7 |
C |
A |
17: 35,658,675 (GRCm39) |
S104R |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 14,988,224 (GRCm39) |
Y628C |
probably damaging |
Het |
| Hspa5 |
T |
A |
2: 34,666,065 (GRCm39) |
Y636* |
probably null |
Het |
| Htt |
A |
G |
5: 35,063,092 (GRCm39) |
|
probably benign |
Het |
| Idh1 |
T |
C |
1: 65,200,273 (GRCm39) |
I364V |
probably benign |
Het |
| Itgae |
G |
T |
11: 73,007,988 (GRCm39) |
A423S |
possibly damaging |
Het |
| Kng2 |
T |
C |
16: 22,830,802 (GRCm39) |
N169S |
possibly damaging |
Het |
| Larp4b |
C |
T |
13: 9,201,235 (GRCm39) |
T369I |
possibly damaging |
Het |
| Lcor |
T |
C |
19: 41,573,387 (GRCm39) |
I714T |
probably benign |
Het |
| Lhfpl7 |
A |
G |
5: 113,382,435 (GRCm39) |
|
probably benign |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Magi2 |
G |
T |
5: 19,432,455 (GRCm39) |
G57C |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,720,761 (GRCm39) |
H2291Q |
probably damaging |
Het |
| Mgam |
T |
C |
6: 40,631,652 (GRCm39) |
|
probably null |
Het |
| Micall2 |
A |
G |
5: 139,702,508 (GRCm39) |
V245A |
probably benign |
Het |
| Mipep |
T |
G |
14: 61,109,512 (GRCm39) |
Y630D |
probably damaging |
Het |
| Msx2 |
A |
T |
13: 53,622,221 (GRCm39) |
M263K |
probably damaging |
Het |
| Nectin2 |
G |
T |
7: 19,451,633 (GRCm39) |
P467H |
probably damaging |
Het |
| Nek10 |
A |
T |
14: 14,842,789 (GRCm38) |
M165L |
probably benign |
Het |
| Nlrp4b |
A |
T |
7: 10,459,863 (GRCm39) |
M455L |
probably benign |
Het |
| Oaz3 |
TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG |
TGGAGGCAGGAGCACGGGAGGCAG |
3: 94,343,349 (GRCm39) |
|
probably benign |
Het |
| Or10ad1b |
T |
A |
15: 98,124,846 (GRCm39) |
I227F |
probably damaging |
Het |
| Or4c10 |
T |
A |
2: 89,760,645 (GRCm39) |
L164* |
probably null |
Het |
| Pcx |
T |
A |
19: 4,669,132 (GRCm39) |
V710E |
probably damaging |
Het |
| Pkn2 |
C |
T |
3: 142,527,408 (GRCm39) |
R347Q |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,145,218 (GRCm39) |
E44G |
possibly damaging |
Het |
| Qsox1 |
C |
T |
1: 155,666,791 (GRCm39) |
G233S |
probably benign |
Het |
| Rbl1 |
T |
A |
2: 157,037,475 (GRCm39) |
N224I |
probably damaging |
Het |
| Rspry1 |
A |
G |
8: 95,362,116 (GRCm39) |
T132A |
probably damaging |
Het |
| Sclt1 |
A |
G |
3: 41,681,546 (GRCm39) |
V91A |
probably damaging |
Het |
| Sema4f |
A |
T |
6: 82,895,540 (GRCm39) |
L331H |
probably benign |
Het |
| Sf3b3 |
T |
A |
8: 111,544,198 (GRCm39) |
Q814L |
probably benign |
Het |
| Slc19a2 |
T |
G |
1: 164,089,753 (GRCm39) |
Y190D |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 109,982,879 (GRCm39) |
H204Q |
possibly damaging |
Het |
| Sox6 |
T |
C |
7: 115,376,328 (GRCm39) |
K135E |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,145,426 (GRCm39) |
Q607R |
probably damaging |
Het |
| Tgfb1i1 |
A |
G |
7: 127,848,670 (GRCm39) |
|
probably benign |
Het |
| Tirap |
T |
G |
9: 35,099,999 (GRCm39) |
R228S |
probably benign |
Het |
| Trp53bp2 |
T |
A |
1: 182,256,581 (GRCm39) |
H50Q |
probably damaging |
Het |
| Try4 |
A |
G |
6: 41,280,365 (GRCm39) |
H63R |
probably damaging |
Het |
| Vmn2r25 |
G |
A |
6: 123,816,643 (GRCm39) |
P313S |
probably benign |
Het |
| Vps26a |
A |
C |
10: 62,294,825 (GRCm39) |
L250V |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,619,000 (GRCm39) |
H1226R |
probably benign |
Het |
| Wdtc1 |
TCC |
TC |
4: 133,036,053 (GRCm39) |
|
probably benign |
Het |
| Zc3hav1l |
A |
T |
6: 38,274,881 (GRCm39) |
|
probably benign |
Het |
| Zfp119b |
T |
G |
17: 56,246,271 (GRCm39) |
H305P |
probably damaging |
Het |
| Zfp326 |
C |
T |
5: 106,039,035 (GRCm39) |
Q134* |
probably null |
Het |
| Zfp975 |
C |
T |
7: 42,311,263 (GRCm39) |
R450Q |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,333,032 (GRCm39) |
M313K |
probably benign |
Het |
| Zscan5b |
T |
C |
7: 6,241,965 (GRCm39) |
S395P |
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 |
|
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'- ACGCTGCTTCAGAAGAGGTAG -3'
(R):5'- TGTGATCCATGAGTAGAGAGAAGCC -3'
Sequencing Primer
(F):5'- TAGAACATGGTCGCTGCC -3'
(R):5'- GGTGTGGATTACCTACTTCC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation