Incidental Mutation 'R6511:Slc41a2'
ID |
519919 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc41a2
|
Ensembl Gene |
ENSMUSG00000034591 |
Gene Name |
solute carrier family 41, member 2 |
Synonyms |
A230035L05Rik |
MMRRC Submission |
044639-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
R6511 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
83066712-83173746 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83119652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 370
(H370R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039956]
|
AlphaFold |
Q8BYR8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039956
AA Change: H370R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000036690 Gene: ENSMUSG00000034591 AA Change: H370R
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 |
|
Meta Mutation Damage Score |
0.2050 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
A |
16: 20,195,344 (GRCm39) |
H718Y |
probably damaging |
Het |
Abcc8 |
G |
A |
7: 45,800,285 (GRCm39) |
T499I |
possibly damaging |
Het |
Azin2 |
C |
A |
4: 128,828,259 (GRCm39) |
R316L |
probably damaging |
Het |
Cep85l |
C |
T |
10: 53,154,188 (GRCm39) |
V702I |
probably benign |
Het |
Cfap69 |
A |
T |
5: 5,667,220 (GRCm39) |
C442S |
probably damaging |
Het |
Commd3 |
G |
A |
2: 18,679,650 (GRCm39) |
G148R |
probably benign |
Het |
Cyfip2 |
T |
C |
11: 46,087,135 (GRCm39) |
T1252A |
probably benign |
Het |
Cyp4a30b |
A |
T |
4: 115,313,905 (GRCm39) |
D162V |
probably damaging |
Het |
Exoc3l |
G |
T |
8: 106,019,887 (GRCm39) |
T346K |
probably benign |
Het |
Gas8 |
T |
C |
8: 124,250,896 (GRCm39) |
V123A |
probably benign |
Het |
Hmcn2 |
T |
G |
2: 31,246,354 (GRCm39) |
D774E |
possibly damaging |
Het |
Itga1 |
G |
T |
13: 115,129,037 (GRCm39) |
S540R |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,231,225 (GRCm39) |
N1145S |
probably damaging |
Het |
Kcnc2 |
C |
T |
10: 112,297,972 (GRCm39) |
|
probably benign |
Het |
Lrp5 |
G |
A |
19: 3,702,296 (GRCm39) |
R174W |
probably damaging |
Het |
Lrrn4 |
T |
G |
2: 132,712,246 (GRCm39) |
S526R |
probably benign |
Het |
Map3k6 |
G |
A |
4: 132,975,389 (GRCm39) |
R708H |
probably damaging |
Het |
Mefv |
T |
C |
16: 3,533,810 (GRCm39) |
T154A |
probably benign |
Het |
Mrtfb |
T |
A |
16: 13,197,714 (GRCm39) |
S66R |
probably damaging |
Het |
Mtif2 |
G |
T |
11: 29,486,949 (GRCm39) |
A320S |
possibly damaging |
Het |
Nos2 |
A |
G |
11: 78,846,290 (GRCm39) |
|
probably null |
Het |
Or4k15b |
A |
G |
14: 50,272,266 (GRCm39) |
L198P |
probably damaging |
Het |
Or9g4 |
A |
G |
2: 85,505,184 (GRCm39) |
S104P |
possibly damaging |
Het |
Pip5k1c |
T |
C |
10: 81,146,651 (GRCm39) |
Y44H |
probably damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,798,001 (GRCm39) |
E972G |
probably damaging |
Het |
Prdm12 |
T |
C |
2: 31,530,321 (GRCm39) |
S71P |
probably damaging |
Het |
Prkag2 |
G |
T |
5: 25,305,286 (GRCm39) |
|
probably benign |
Het |
Ptprb |
T |
C |
10: 116,182,725 (GRCm39) |
L1467P |
probably damaging |
Het |
Rnf43 |
G |
A |
11: 87,622,989 (GRCm39) |
V697I |
probably benign |
Het |
Rpl7 |
C |
A |
1: 16,173,889 (GRCm39) |
A12S |
probably benign |
Het |
Slc25a54 |
T |
G |
3: 109,001,572 (GRCm39) |
I120S |
possibly damaging |
Het |
Speer1d |
A |
G |
5: 11,307,275 (GRCm39) |
Y51C |
probably benign |
Het |
Sv2c |
C |
T |
13: 96,185,033 (GRCm39) |
V215I |
probably benign |
Het |
Synpo2l |
T |
C |
14: 20,712,518 (GRCm39) |
E34G |
probably damaging |
Het |
Tubgcp5 |
T |
A |
7: 55,467,140 (GRCm39) |
C703* |
probably null |
Het |
Vmn1r158 |
T |
C |
7: 22,490,116 (GRCm39) |
K31R |
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zfp2 |
A |
T |
11: 50,791,234 (GRCm39) |
C270S |
probably damaging |
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 |
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 |
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'- GATGCCTCATTTCCAGTCCAAG -3'
(R):5'- GCATTGTCATCCCATATTTGTGG -3'
Sequencing Primer
(F):5'- TGTACATACCTACACAGACC -3'
(R):5'- ACAGGCTGGCCTTAAACTTG -3'
|
Posted On |
2018-06-06 |