Incidental Mutation 'R6060:Slc41a1'
| ID |
483159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc41a1
|
| Ensembl Gene |
ENSMUSG00000013275 |
| Gene Name |
solute carrier family 41, member 1 |
| Synonyms |
B230315F01Rik |
| MMRRC Submission |
044426-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6060 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131755236-131776601 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131767972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 179
(M179V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086559]
|
| AlphaFold |
Q8BJA2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086559
AA Change: M179V
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000083747
Gene: ENSMUSG00000013275
AA Change: M179V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
97 |
119 |
N/A |
INTRINSIC |
|
Pfam:MgtE
|
138 |
272 |
1.9e-25 |
PFAM |
|
transmembrane domain
|
283 |
305 |
N/A |
INTRINSIC |
|
transmembrane domain
|
314 |
336 |
N/A |
INTRINSIC |
|
Pfam:MgtE
|
352 |
496 |
1.3e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146360
|
| Meta Mutation Damage Score |
0.1142 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110057P08Rik |
A |
G |
16: 88,966,630 (GRCm39) |
|
probably null |
Het |
| Adh1 |
T |
C |
3: 137,992,544 (GRCm39) |
I220T |
probably damaging |
Het |
| Ajap1 |
G |
A |
4: 153,516,699 (GRCm39) |
T214I |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,749,601 (GRCm39) |
F476S |
probably damaging |
Het |
| Atp6v1g3 |
A |
G |
1: 138,201,582 (GRCm39) |
K27E |
possibly damaging |
Het |
| BC034090 |
A |
G |
1: 155,117,245 (GRCm39) |
I291T |
probably benign |
Het |
| Cnot9 |
T |
A |
1: 74,556,285 (GRCm39) |
N27K |
probably benign |
Het |
| Cyp2c70 |
A |
T |
19: 40,153,857 (GRCm39) |
L244* |
probably null |
Het |
| Cyp2d22 |
T |
C |
15: 82,260,086 (GRCm39) |
T6A |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,107,799 (GRCm39) |
E1829G |
probably damaging |
Het |
| Dnajc4 |
G |
T |
19: 6,968,093 (GRCm39) |
S61* |
probably null |
Het |
| Dpysl4 |
A |
G |
7: 138,669,324 (GRCm39) |
M1V |
probably null |
Het |
| Fam149a |
T |
A |
8: 45,811,799 (GRCm39) |
|
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,710,489 (GRCm39) |
E547G |
probably damaging |
Het |
| Fam47e |
T |
A |
5: 92,727,472 (GRCm39) |
F127I |
possibly damaging |
Het |
| Ifi207 |
G |
A |
1: 173,558,093 (GRCm39) |
T215I |
unknown |
Het |
| Iftap |
T |
C |
2: 101,440,950 (GRCm39) |
K18E |
probably benign |
Het |
| Lpxn |
T |
C |
19: 12,810,489 (GRCm39) |
L311P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,640,946 (GRCm39) |
N3499K |
|
Het |
| Mknk2 |
A |
T |
10: 80,507,468 (GRCm39) |
D76E |
probably benign |
Het |
| Nectin2 |
A |
T |
7: 19,451,700 (GRCm39) |
Y445N |
probably damaging |
Het |
| Ngb |
A |
C |
12: 87,146,963 (GRCm39) |
S85A |
probably benign |
Het |
| Nrp1 |
C |
A |
8: 129,224,419 (GRCm39) |
H727Q |
probably damaging |
Het |
| Or5b112 |
C |
T |
19: 13,319,497 (GRCm39) |
A125V |
probably benign |
Het |
| Or6k2 |
C |
A |
1: 173,986,907 (GRCm39) |
C189* |
probably null |
Het |
| Pold3 |
A |
C |
7: 99,749,819 (GRCm39) |
Y115* |
probably null |
Het |
| Ppp1r12b |
C |
G |
1: 134,883,262 (GRCm39) |
V87L |
probably benign |
Het |
| Ppp1r26 |
A |
G |
2: 28,341,042 (GRCm39) |
N224S |
probably benign |
Het |
| Prl7a1 |
G |
A |
13: 27,821,571 (GRCm39) |
P122S |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,289,612 (GRCm39) |
H400R |
possibly damaging |
Het |
| Rnf32 |
A |
T |
5: 29,411,752 (GRCm39) |
I214L |
probably benign |
Het |
| Safb2 |
A |
T |
17: 56,870,246 (GRCm39) |
|
probably null |
Het |
| Serpinb6e |
A |
G |
13: 34,025,256 (GRCm39) |
C12R |
possibly damaging |
Het |
| Sh2b2 |
A |
T |
5: 136,261,209 (GRCm39) |
N2K |
possibly damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,672,338 (GRCm39) |
A821V |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,299,004 (GRCm39) |
Y141C |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,522,918 (GRCm39) |
V1450I |
probably damaging |
Het |
| Trmt1l |
A |
G |
1: 151,333,331 (GRCm39) |
N642S |
possibly damaging |
Het |
| Ttll13 |
G |
A |
7: 79,908,491 (GRCm39) |
R576H |
probably damaging |
Het |
| Zar1 |
T |
A |
5: 72,738,272 (GRCm39) |
R43S |
probably benign |
Het |
| Zfp455 |
A |
G |
13: 67,355,257 (GRCm39) |
Y175C |
probably damaging |
Het |
|
| Other mutations in Slc41a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00927:Slc41a1
|
APN |
1 |
131,766,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01368:Slc41a1
|
APN |
1 |
131,766,862 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0255:Slc41a1
|
UTSW |
1 |
131,771,650 (GRCm39) |
splice site |
probably benign |
|
|
R0737:Slc41a1
|
UTSW |
1 |
131,768,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1367:Slc41a1
|
UTSW |
1 |
131,771,746 (GRCm39) |
missense |
probably benign |
|
|
R1474:Slc41a1
|
UTSW |
1 |
131,774,319 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1927:Slc41a1
|
UTSW |
1 |
131,768,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4518:Slc41a1
|
UTSW |
1 |
131,766,863 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4790:Slc41a1
|
UTSW |
1 |
131,758,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4851:Slc41a1
|
UTSW |
1 |
131,758,508 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5180:Slc41a1
|
UTSW |
1 |
131,772,115 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5633:Slc41a1
|
UTSW |
1 |
131,774,325 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6526:Slc41a1
|
UTSW |
1 |
131,768,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6787:Slc41a1
|
UTSW |
1 |
131,770,487 (GRCm39) |
splice site |
probably null |
|
|
R7038:Slc41a1
|
UTSW |
1 |
131,769,795 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7258:Slc41a1
|
UTSW |
1 |
131,769,780 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7382:Slc41a1
|
UTSW |
1 |
131,774,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7405:Slc41a1
|
UTSW |
1 |
131,766,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:Slc41a1
|
UTSW |
1 |
131,758,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7574:Slc41a1
|
UTSW |
1 |
131,766,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7873:Slc41a1
|
UTSW |
1 |
131,758,561 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7942:Slc41a1
|
UTSW |
1 |
131,768,635 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7956:Slc41a1
|
UTSW |
1 |
131,771,766 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9040:Slc41a1
|
UTSW |
1 |
131,768,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9435:Slc41a1
|
UTSW |
1 |
131,766,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Slc41a1
|
UTSW |
1 |
131,772,103 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Slc41a1
|
UTSW |
1 |
131,771,724 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Slc41a1
|
UTSW |
1 |
131,767,972 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1192:Slc41a1
|
UTSW |
1 |
131,767,972 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGTGGGATCTGCCACAAG -3'
(R):5'- ACATGTGATATGGAAGCTGCTGG -3'
Sequencing Primer
(F):5'- AGAGTACACCTGCCCTGG -3'
(R):5'- TATGGAAGCTGCTGGGGCAC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation