Incidental Mutation 'R0560:AI464131'
| ID |
45823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AI464131
|
| Ensembl Gene |
ENSMUSG00000046312 |
| Gene Name |
expressed sequence AI464131 |
| Synonyms |
NET37 |
| MMRRC Submission |
038752-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0560 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
41495604-41503076 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 41498167 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 488
(R488W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054920]
[ENSMUST00000149596]
|
| AlphaFold |
Q69ZQ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054920
AA Change: R488W
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000059038
Gene: ENSMUSG00000046312
AA Change: R488W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
56 |
78 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_31
|
311 |
712 |
9.7e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149596
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (26/26) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610009O20Rik |
T |
A |
18: 38,254,498 (GRCm38) |
L230Q |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,005,101 (GRCm38) |
Y1334H |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,790,198 (GRCm38) |
T159A |
possibly damaging |
Het |
| Asb18 |
A |
C |
1: 90,014,528 (GRCm38) |
V17G |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,511,962 (GRCm38) |
K284E |
probably benign |
Het |
| Bspry |
A |
G |
4: 62,486,449 (GRCm38) |
R161G |
probably damaging |
Het |
| Ccdc138 |
A |
G |
10: 58,575,717 (GRCm38) |
T636A |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,428,680 (GRCm38) |
W1140R |
probably damaging |
Het |
| Cyp2t4 |
A |
G |
7: 27,158,511 (GRCm38) |
T479A |
probably damaging |
Het |
| Dtx3l |
A |
G |
16: 35,932,935 (GRCm38) |
S434P |
probably damaging |
Het |
| Duox2 |
A |
G |
2: 122,291,554 (GRCm38) |
V611A |
probably benign |
Het |
| Epb41l3 |
T |
G |
17: 69,274,897 (GRCm38) |
|
probably null |
Het |
| Fam161b |
C |
T |
12: 84,357,718 (GRCm38) |
D63N |
probably damaging |
Het |
| Gm5422 |
G |
A |
10: 31,249,244 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr158 |
A |
T |
2: 21,825,274 (GRCm38) |
D710V |
probably damaging |
Het |
| Krtcap2 |
T |
C |
3: 89,249,142 (GRCm38) |
|
probably null |
Het |
| Mtrf1 |
T |
A |
14: 79,406,850 (GRCm38) |
D199E |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,300,600 (GRCm38) |
A472T |
probably benign |
Het |
| Ncf2 |
T |
A |
1: 152,821,522 (GRCm38) |
Y47N |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,986,410 (GRCm38) |
|
probably benign |
Het |
| Siglec1 |
G |
T |
2: 131,070,346 (GRCm38) |
T1692N |
probably benign |
Het |
| Slc10a2 |
T |
C |
8: 5,089,092 (GRCm38) |
N284S |
probably benign |
Het |
| Slfn3 |
T |
C |
11: 83,213,152 (GRCm38) |
F283S |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,391,086 (GRCm38) |
F2297S |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,409,714 (GRCm38) |
|
probably null |
Het |
| Vps13d |
T |
C |
4: 145,054,190 (GRCm38) |
E3957G |
probably damaging |
Het |
|
| Other mutations in AI464131 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:AI464131
|
APN |
4 |
41,498,923 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL01352:AI464131
|
APN |
4 |
41,499,469 (GRCm38) |
nonsense |
probably null |
|
|
IGL01384:AI464131
|
APN |
4 |
41,498,151 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02150:AI464131
|
APN |
4 |
41,499,183 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL02557:AI464131
|
APN |
4 |
41,497,900 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R0238:AI464131
|
UTSW |
4 |
41,498,912 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0238:AI464131
|
UTSW |
4 |
41,498,912 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0413:AI464131
|
UTSW |
4 |
41,498,585 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0455:AI464131
|
UTSW |
4 |
41,499,538 (GRCm38) |
nonsense |
probably null |
|
|
R0511:AI464131
|
UTSW |
4 |
41,498,538 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0785:AI464131
|
UTSW |
4 |
41,497,539 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0940:AI464131
|
UTSW |
4 |
41,497,996 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1677:AI464131
|
UTSW |
4 |
41,497,947 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1762:AI464131
|
UTSW |
4 |
41,498,553 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1984:AI464131
|
UTSW |
4 |
41,497,501 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2192:AI464131
|
UTSW |
4 |
41,497,704 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2496:AI464131
|
UTSW |
4 |
41,499,165 (GRCm38) |
missense |
probably benign |
0.28 |
|
R4212:AI464131
|
UTSW |
4 |
41,498,307 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4321:AI464131
|
UTSW |
4 |
41,498,767 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4672:AI464131
|
UTSW |
4 |
41,499,061 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4890:AI464131
|
UTSW |
4 |
41,498,877 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4954:AI464131
|
UTSW |
4 |
41,498,241 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5177:AI464131
|
UTSW |
4 |
41,498,407 (GRCm38) |
nonsense |
probably null |
|
|
R5967:AI464131
|
UTSW |
4 |
41,497,830 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6005:AI464131
|
UTSW |
4 |
41,498,895 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6128:AI464131
|
UTSW |
4 |
41,498,445 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6162:AI464131
|
UTSW |
4 |
41,497,899 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R7202:AI464131
|
UTSW |
4 |
41,498,268 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7211:AI464131
|
UTSW |
4 |
41,498,028 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7311:AI464131
|
UTSW |
4 |
41,498,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7524:AI464131
|
UTSW |
4 |
41,498,779 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7680:AI464131
|
UTSW |
4 |
41,497,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8177:AI464131
|
UTSW |
4 |
41,497,568 (GRCm38) |
nonsense |
probably null |
|
|
R8809:AI464131
|
UTSW |
4 |
41,498,812 (GRCm38) |
missense |
probably benign |
|
|
R8981:AI464131
|
UTSW |
4 |
41,498,209 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R9257:AI464131
|
UTSW |
4 |
41,499,030 (GRCm38) |
missense |
probably benign |
|
|
X0024:AI464131
|
UTSW |
4 |
41,498,107 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
Z1088:AI464131
|
UTSW |
4 |
41,497,557 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACGGATAGCCCAGCATACTGAC -3'
(R):5'- GCCCGCCTATGGCGACTTTAATTTC -3'
Sequencing Primer
(F):5'- CCAGCATACTGACGGTGAG -3'
(R):5'- CGACTTTAATTTCGACGAGGGC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation