Incidental Mutation 'R6124:Slc41a2'
| ID |
485883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc41a2
|
| Ensembl Gene |
ENSMUSG00000034591 |
| Gene Name |
solute carrier family 41, member 2 |
| Synonyms |
A230035L05Rik |
| MMRRC Submission |
044271-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R6124 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
83066712-83173746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83133116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 310
(N310S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039956]
|
| AlphaFold |
Q8BYR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039956
AA Change: N310S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036690
Gene: ENSMUSG00000034591
AA Change: N310S
| 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 |
noncoding transcript
Transcript: ENSMUST00000139329
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,331,622 (GRCm39) |
N864S |
probably benign |
Het |
| Ank2 |
C |
T |
3: 127,041,800 (GRCm39) |
V35M |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,142,185 (GRCm39) |
M368T |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,365,515 (GRCm39) |
T413M |
probably damaging |
Het |
| Cxcr4 |
A |
G |
1: 128,517,397 (GRCm39) |
L86P |
probably damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,547,691 (GRCm39) |
Y598C |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,073,260 (GRCm39) |
N2428D |
probably benign |
Het |
| Fastkd3 |
C |
T |
13: 68,738,337 (GRCm39) |
Q32* |
probably null |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gm5422 |
A |
G |
10: 31,125,396 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9913 |
T |
A |
2: 125,348,393 (GRCm39) |
|
probably benign |
Het |
| Hgfac |
A |
G |
5: 35,201,728 (GRCm39) |
N287S |
probably benign |
Het |
| Hook3 |
A |
T |
8: 26,549,300 (GRCm39) |
N181K |
probably benign |
Het |
| Hormad1 |
A |
G |
3: 95,483,613 (GRCm39) |
T142A |
probably benign |
Het |
| Klrh1 |
A |
T |
6: 129,745,098 (GRCm39) |
F166Y |
probably benign |
Het |
| Kplce |
G |
T |
3: 92,776,365 (GRCm39) |
P106Q |
probably damaging |
Het |
| Lonrf1 |
T |
A |
8: 36,696,354 (GRCm39) |
N565I |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 85,651,936 (GRCm39) |
S349P |
probably benign |
Het |
| Mcee |
T |
A |
7: 64,050,023 (GRCm39) |
N51K |
probably damaging |
Het |
| Mfsd6 |
A |
C |
1: 52,747,411 (GRCm39) |
F485V |
probably damaging |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Nlrp6 |
T |
A |
7: 140,503,160 (GRCm39) |
V422E |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,374,458 (GRCm39) |
S23P |
probably damaging |
Het |
| Nsd2 |
T |
A |
5: 34,000,610 (GRCm39) |
H42Q |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,969,870 (GRCm39) |
S91T |
probably benign |
Het |
| Or10ak13 |
C |
A |
4: 118,639,392 (GRCm39) |
C130F |
probably damaging |
Het |
| Or10j2 |
T |
A |
1: 173,097,846 (GRCm39) |
Y35N |
probably damaging |
Het |
| Or13a20 |
A |
T |
7: 140,232,507 (GRCm39) |
D205V |
probably damaging |
Het |
| Or5p72 |
A |
T |
7: 108,022,725 (GRCm39) |
|
probably null |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Or6d15 |
T |
C |
6: 116,559,446 (GRCm39) |
I154V |
probably benign |
Het |
| Papss2 |
T |
A |
19: 32,614,528 (GRCm39) |
N81K |
probably damaging |
Het |
| Plekhn1 |
A |
G |
4: 156,309,696 (GRCm39) |
I147T |
possibly damaging |
Het |
| Ptgfrn |
C |
T |
3: 100,980,405 (GRCm39) |
E312K |
probably damaging |
Het |
| Serpinb1b |
T |
C |
13: 33,277,796 (GRCm39) |
V343A |
probably benign |
Het |
| Sis |
T |
C |
3: 72,860,544 (GRCm39) |
N261S |
possibly damaging |
Het |
| Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
| Snrnp48 |
T |
A |
13: 38,400,439 (GRCm39) |
I182N |
possibly damaging |
Het |
| Tppp2 |
A |
T |
14: 52,156,937 (GRCm39) |
T105S |
probably benign |
Het |
| Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
| Vmn1r19 |
A |
C |
6: 57,381,602 (GRCm39) |
M52L |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,464,321 (GRCm39) |
R656S |
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 |
|
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 |
|
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'- CATACAGGCTACAGTGTTTGAAATC -3'
(R):5'- TCCTCAGTCAGTTTGTTCGAAC -3'
Sequencing Primer
(F):5'- CCCCTAGTTCTAACAGTTGAAGG -3'
(R):5'- CATTCTAACTGAAACCAATGTGCTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation