Incidental Mutation 'R4861:Slc41a2'
ID |
374302 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc41a2
|
Ensembl Gene |
ENSMUSG00000034591 |
Gene Name |
solute carrier family 41, member 2 |
Synonyms |
A230035L05Rik |
MMRRC Submission |
042472-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
R4861 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
83066712-83173746 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83152322 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 51
(Q51R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039956]
[ENSMUST00000126617]
[ENSMUST00000154730]
[ENSMUST00000154926]
|
AlphaFold |
Q8BYR8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039956
AA Change: Q51R
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000036690 Gene: ENSMUSG00000034591 AA Change: Q51R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
159 |
181 |
N/A |
INTRINSIC |
Pfam:MgtE
|
200 |
334 |
8.7e-24 |
PFAM |
transmembrane domain
|
346 |
368 |
N/A |
INTRINSIC |
transmembrane domain
|
375 |
397 |
N/A |
INTRINSIC |
Pfam:MgtE
|
414 |
557 |
2.9e-32 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126617
AA Change: Q51R
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154730
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154926
AA Change: Q51R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.0900 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 87.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,076,249 (GRCm39) |
R1153H |
probably damaging |
Het |
Ahcy |
T |
C |
2: 154,902,436 (GRCm39) |
E411G |
probably benign |
Het |
Alpi |
T |
A |
1: 87,028,191 (GRCm39) |
I211F |
probably damaging |
Het |
Arfgef3 |
G |
A |
10: 18,483,479 (GRCm39) |
A1415V |
probably benign |
Het |
Bora |
T |
C |
14: 99,284,910 (GRCm39) |
|
probably null |
Het |
Car3 |
T |
C |
3: 14,931,956 (GRCm39) |
V109A |
probably damaging |
Het |
Cdk13 |
A |
T |
13: 17,941,171 (GRCm39) |
V17D |
probably damaging |
Het |
Cept1 |
A |
C |
3: 106,413,048 (GRCm39) |
S226A |
probably damaging |
Het |
Dbt |
A |
T |
3: 116,341,727 (GRCm39) |
I443L |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Farp2 |
T |
C |
1: 93,533,141 (GRCm39) |
L633S |
probably damaging |
Het |
Gm26727 |
T |
C |
2: 67,263,289 (GRCm39) |
I79M |
probably damaging |
Het |
Gm5800 |
T |
A |
14: 51,953,504 (GRCm39) |
N37I |
probably damaging |
Het |
Hapln1 |
G |
A |
13: 89,749,571 (GRCm39) |
G39S |
possibly damaging |
Het |
Ice2 |
T |
A |
9: 69,322,730 (GRCm39) |
S408R |
probably benign |
Het |
Lctl |
T |
C |
9: 64,027,045 (GRCm39) |
I131T |
possibly damaging |
Het |
Ncoa7 |
T |
A |
10: 30,580,608 (GRCm39) |
M117L |
probably benign |
Het |
Npy4r |
C |
T |
14: 33,868,840 (GRCm39) |
W149* |
probably null |
Het |
Nr5a2 |
A |
G |
1: 136,876,458 (GRCm39) |
|
probably null |
Het |
Odad1 |
A |
G |
7: 45,592,297 (GRCm39) |
E359G |
probably damaging |
Het |
Plg |
G |
A |
17: 12,614,622 (GRCm39) |
E301K |
probably benign |
Het |
Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
Rapgef2 |
T |
C |
3: 78,981,743 (GRCm39) |
K1084R |
probably benign |
Het |
Slc47a2 |
A |
T |
11: 61,227,059 (GRCm39) |
C170S |
probably benign |
Het |
Slco1b2 |
A |
T |
6: 141,616,948 (GRCm39) |
N427I |
possibly damaging |
Het |
Smc2 |
G |
A |
4: 52,461,090 (GRCm39) |
R571H |
probably benign |
Het |
Sp4 |
G |
T |
12: 118,264,546 (GRCm39) |
|
probably null |
Het |
Tas2r117 |
T |
C |
6: 132,780,092 (GRCm39) |
F77L |
probably benign |
Het |
Tbcd |
C |
T |
11: 121,492,787 (GRCm39) |
R875C |
probably damaging |
Het |
Thumpd2 |
A |
G |
17: 81,334,230 (GRCm39) |
S453P |
probably benign |
Het |
Vars2 |
G |
T |
17: 35,972,825 (GRCm39) |
Q13K |
probably benign |
Het |
|
Other mutations in Slc41a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00821:Slc41a2
|
APN |
10 |
83,149,394 (GRCm39) |
unclassified |
probably benign |
|
IGL02263:Slc41a2
|
APN |
10 |
83,149,364 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02338:Slc41a2
|
APN |
10 |
83,152,455 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02680:Slc41a2
|
APN |
10 |
83,119,728 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02703:Slc41a2
|
APN |
10 |
83,090,711 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03039:Slc41a2
|
APN |
10 |
83,119,722 (GRCm39) |
missense |
probably benign |
0.37 |
PIT4508001:Slc41a2
|
UTSW |
10 |
83,090,744 (GRCm39) |
missense |
probably damaging |
0.99 |
R0326:Slc41a2
|
UTSW |
10 |
83,119,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R0470:Slc41a2
|
UTSW |
10 |
83,152,086 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0610:Slc41a2
|
UTSW |
10 |
83,119,592 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1708:Slc41a2
|
UTSW |
10 |
83,069,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R1765:Slc41a2
|
UTSW |
10 |
83,137,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R1870:Slc41a2
|
UTSW |
10 |
83,137,029 (GRCm39) |
nonsense |
probably null |
|
R1875:Slc41a2
|
UTSW |
10 |
83,091,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R2008:Slc41a2
|
UTSW |
10 |
83,140,167 (GRCm39) |
critical splice donor site |
probably null |
|
R2172:Slc41a2
|
UTSW |
10 |
83,119,638 (GRCm39) |
missense |
probably benign |
0.00 |
R4193:Slc41a2
|
UTSW |
10 |
83,137,085 (GRCm39) |
missense |
probably damaging |
0.97 |
R4789:Slc41a2
|
UTSW |
10 |
83,152,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R4861:Slc41a2
|
UTSW |
10 |
83,152,322 (GRCm39) |
missense |
probably damaging |
0.99 |
R4913:Slc41a2
|
UTSW |
10 |
83,149,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R5012:Slc41a2
|
UTSW |
10 |
83,137,127 (GRCm39) |
missense |
probably benign |
0.02 |
R5140:Slc41a2
|
UTSW |
10 |
83,133,155 (GRCm39) |
missense |
probably damaging |
0.98 |
R5189:Slc41a2
|
UTSW |
10 |
83,149,275 (GRCm39) |
splice site |
probably null |
|
R5410:Slc41a2
|
UTSW |
10 |
83,117,232 (GRCm39) |
critical splice donor site |
probably null |
|
R5748:Slc41a2
|
UTSW |
10 |
83,133,023 (GRCm39) |
missense |
probably benign |
0.00 |
R5808:Slc41a2
|
UTSW |
10 |
83,149,362 (GRCm39) |
missense |
probably benign |
0.29 |
R6124:Slc41a2
|
UTSW |
10 |
83,133,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R6292:Slc41a2
|
UTSW |
10 |
83,090,790 (GRCm39) |
missense |
probably damaging |
0.99 |
R6511:Slc41a2
|
UTSW |
10 |
83,119,652 (GRCm39) |
missense |
probably damaging |
0.99 |
R6793:Slc41a2
|
UTSW |
10 |
83,137,022 (GRCm39) |
splice site |
probably null |
|
R6970:Slc41a2
|
UTSW |
10 |
83,151,960 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7584:Slc41a2
|
UTSW |
10 |
83,152,653 (GRCm39) |
splice site |
probably benign |
|
R7752:Slc41a2
|
UTSW |
10 |
83,091,905 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8289:Slc41a2
|
UTSW |
10 |
83,137,044 (GRCm39) |
missense |
probably benign |
0.06 |
R8700:Slc41a2
|
UTSW |
10 |
83,152,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R9607:Slc41a2
|
UTSW |
10 |
83,119,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTCCCGTCACAGTAGTTATAGC -3'
(R):5'- TGGGTCTGAAGGATACAGGTC -3'
Sequencing Primer
(F):5'- AGCCAGCATAGTCATCGTACTTGG -3'
(R):5'- AAGGATACAGGTCTTTTTGTGATGAC -3'
|
Posted On |
2016-03-01 |