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? |
Possibly non essential
(E-score: 0.313)
|
| Stock # |
R6511 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
83230848-83337882 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83283788 bp (GRCm38)
|
| 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: 20,376,594 (GRCm38) |
H718Y |
probably damaging |
Het |
| Abcc8 |
G |
A |
7: 46,150,861 (GRCm38) |
T499I |
possibly damaging |
Het |
| Azin2 |
C |
A |
4: 128,934,466 (GRCm38) |
R316L |
probably damaging |
Het |
| Cep85l |
C |
T |
10: 53,278,092 (GRCm38) |
V702I |
probably benign |
Het |
| Cfap69 |
A |
T |
5: 5,617,220 (GRCm38) |
C442S |
probably damaging |
Het |
| Commd3 |
G |
A |
2: 18,674,839 (GRCm38) |
G148R |
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,196,308 (GRCm38) |
T1252A |
probably benign |
Het |
| Cyp4a30b |
A |
T |
4: 115,456,708 (GRCm38) |
D162V |
probably damaging |
Het |
| Exoc3l |
G |
T |
8: 105,293,255 (GRCm38) |
T346K |
probably benign |
Het |
| Gas8 |
T |
C |
8: 123,524,157 (GRCm38) |
V123A |
probably benign |
Het |
| Hmcn2 |
T |
G |
2: 31,356,342 (GRCm38) |
D774E |
possibly damaging |
Het |
| Itga1 |
G |
T |
13: 114,992,501 (GRCm38) |
S540R |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,329,727 (GRCm38) |
N1145S |
probably damaging |
Het |
| Kcnc2 |
C |
T |
10: 112,462,067 (GRCm38) |
|
probably benign |
Het |
| Lrp5 |
G |
A |
19: 3,652,296 (GRCm38) |
R174W |
probably damaging |
Het |
| Lrrn4 |
T |
G |
2: 132,870,326 (GRCm38) |
S526R |
probably benign |
Het |
| Map3k6 |
G |
A |
4: 133,248,078 (GRCm38) |
R708H |
probably damaging |
Het |
| Mefv |
T |
C |
16: 3,715,946 (GRCm38) |
T154A |
probably benign |
Het |
| Mrtfb |
T |
A |
16: 13,379,850 (GRCm38) |
S66R |
probably damaging |
Het |
| Mtif2 |
G |
T |
11: 29,536,949 (GRCm38) |
A320S |
possibly damaging |
Het |
| Nos2 |
A |
G |
11: 78,955,464 (GRCm38) |
|
probably null |
Het |
| Or4k15b |
A |
G |
14: 50,034,809 (GRCm38) |
L198P |
probably damaging |
Het |
| Or9g4 |
A |
G |
2: 85,674,840 (GRCm38) |
S104P |
possibly damaging |
Het |
| Pip5k1c |
T |
C |
10: 81,310,817 (GRCm38) |
Y44H |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,831,567 (GRCm38) |
E972G |
probably damaging |
Het |
| Prdm12 |
T |
C |
2: 31,640,309 (GRCm38) |
S71P |
probably damaging |
Het |
| Prkag2 |
G |
T |
5: 25,100,288 (GRCm38) |
|
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,346,820 (GRCm38) |
L1467P |
probably damaging |
Het |
| Rnf43 |
G |
A |
11: 87,732,163 (GRCm38) |
V697I |
probably benign |
Het |
| Rpl7 |
C |
A |
1: 16,103,665 (GRCm38) |
A12S |
probably benign |
Het |
| Slc25a54 |
T |
G |
3: 109,094,256 (GRCm38) |
I120S |
possibly damaging |
Het |
| Speer1d |
A |
G |
5: 11,257,308 (GRCm38) |
Y51C |
probably benign |
Het |
| Sv2c |
C |
T |
13: 96,048,525 (GRCm38) |
V215I |
probably benign |
Het |
| Synpo2l |
T |
C |
14: 20,662,450 (GRCm38) |
E34G |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,817,392 (GRCm38) |
C703* |
probably null |
Het |
| Vmn1r158 |
T |
C |
7: 22,790,691 (GRCm38) |
K31R |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,268,463 (GRCm38) |
C558Y |
probably damaging |
Het |
| Zfp2 |
A |
T |
11: 50,900,407 (GRCm38) |
C270S |
probably damaging |
Het |
|
| Other mutations in Slc41a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00821:Slc41a2
|
APN |
10 |
83,313,530 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02263:Slc41a2
|
APN |
10 |
83,313,500 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL02338:Slc41a2
|
APN |
10 |
83,316,591 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02680:Slc41a2
|
APN |
10 |
83,283,864 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL02703:Slc41a2
|
APN |
10 |
83,254,847 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03039:Slc41a2
|
APN |
10 |
83,283,858 (GRCm38) |
missense |
probably benign |
0.37 |
|
PIT4508001:Slc41a2
|
UTSW |
10 |
83,254,880 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0326:Slc41a2
|
UTSW |
10 |
83,283,746 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0470:Slc41a2
|
UTSW |
10 |
83,316,222 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0610:Slc41a2
|
UTSW |
10 |
83,283,728 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R1708:Slc41a2
|
UTSW |
10 |
83,233,732 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1765:Slc41a2
|
UTSW |
10 |
83,301,266 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1870:Slc41a2
|
UTSW |
10 |
83,301,165 (GRCm38) |
nonsense |
probably null |
|
|
R1875:Slc41a2
|
UTSW |
10 |
83,256,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2008:Slc41a2
|
UTSW |
10 |
83,304,303 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2172:Slc41a2
|
UTSW |
10 |
83,283,774 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4193:Slc41a2
|
UTSW |
10 |
83,301,221 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4789:Slc41a2
|
UTSW |
10 |
83,316,456 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4861:Slc41a2
|
UTSW |
10 |
83,316,458 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4861:Slc41a2
|
UTSW |
10 |
83,316,458 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4913:Slc41a2
|
UTSW |
10 |
83,313,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5012:Slc41a2
|
UTSW |
10 |
83,301,263 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5140:Slc41a2
|
UTSW |
10 |
83,297,291 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5189:Slc41a2
|
UTSW |
10 |
83,313,411 (GRCm38) |
splice site |
probably null |
|
|
R5410:Slc41a2
|
UTSW |
10 |
83,281,368 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5748:Slc41a2
|
UTSW |
10 |
83,297,159 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5808:Slc41a2
|
UTSW |
10 |
83,313,498 (GRCm38) |
missense |
probably benign |
0.29 |
|
R6124:Slc41a2
|
UTSW |
10 |
83,297,252 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6292:Slc41a2
|
UTSW |
10 |
83,254,926 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6793:Slc41a2
|
UTSW |
10 |
83,301,158 (GRCm38) |
splice site |
probably null |
|
|
R6970:Slc41a2
|
UTSW |
10 |
83,316,096 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7584:Slc41a2
|
UTSW |
10 |
83,316,789 (GRCm38) |
splice site |
probably benign |
|
|
R7752:Slc41a2
|
UTSW |
10 |
83,256,041 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R8289:Slc41a2
|
UTSW |
10 |
83,301,180 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8700:Slc41a2
|
UTSW |
10 |
83,316,233 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9607:Slc41a2
|
UTSW |
10 |
83,283,767 (GRCm38) |
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 |
Incidental Mutation