Incidental Mutation 'R8717:Slc25a39'
| ID |
669974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a39
|
| Ensembl Gene |
ENSMUSG00000018677 |
| Gene Name |
solute carrier family 25, member 39 |
| Synonyms |
D11Ertd333e, 3010027G13Rik |
| MMRRC Submission |
068570-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.903)
|
| Stock # |
R8717 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102293811-102298772 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102294620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 294
(R294G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006750]
[ENSMUST00000018821]
[ENSMUST00000107098]
[ENSMUST00000107102]
[ENSMUST00000107103]
[ENSMUST00000107105]
[ENSMUST00000124755]
[ENSMUST00000130436]
[ENSMUST00000134669]
[ENSMUST00000142097]
[ENSMUST00000149777]
[ENSMUST00000154001]
[ENSMUST00000155104]
|
| AlphaFold |
Q9D8K8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006750
|
| SMART Domains |
Protein: ENSMUSP00000006750
Gene: ENSMUSG00000006575
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
125 |
187 |
2.34e-19 |
SMART |
|
coiled coil region
|
267 |
322 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018821
AA Change: R294G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000018821
Gene: ENSMUSG00000018677
AA Change: R294G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
156 |
6.9e-23 |
PFAM |
|
Pfam:Mito_carr
|
158 |
247 |
6.1e-19 |
PFAM |
|
Pfam:Mito_carr
|
251 |
352 |
1.1e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107098
AA Change: R286G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102715
Gene: ENSMUSG00000018677
AA Change: R286G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
148 |
1.4e-21 |
PFAM |
|
Pfam:Mito_carr
|
150 |
240 |
3.7e-19 |
PFAM |
|
Pfam:Mito_carr
|
243 |
344 |
4.6e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107102
|
| SMART Domains |
Protein: ENSMUSP00000102719
Gene: ENSMUSG00000006575
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
125 |
187 |
2.34e-19 |
SMART |
|
coiled coil region
|
267 |
322 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107103
|
| SMART Domains |
Protein: ENSMUSP00000102720
Gene: ENSMUSG00000006575
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
120 |
182 |
2.34e-19 |
SMART |
|
coiled coil region
|
262 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107105
|
| SMART Domains |
Protein: ENSMUSP00000102722
Gene: ENSMUSG00000006575
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
125 |
187 |
2.34e-19 |
SMART |
|
coiled coil region
|
267 |
320 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124755
|
| SMART Domains |
Protein: ENSMUSP00000120021
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
71 |
1.3e-9 |
PFAM |
|
Pfam:Mito_carr
|
92 |
152 |
9.7e-15 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000121790
Gene: ENSMUSG00000018677
AA Change: R77G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
35 |
77 |
6.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130436
|
| SMART Domains |
Protein: ENSMUSP00000115087
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
70 |
1.8e-9 |
PFAM |
|
Pfam:Mito_carr
|
92 |
156 |
5.7e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134669
|
| SMART Domains |
Protein: ENSMUSP00000114481
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
69 |
1.9e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142097
|
| SMART Domains |
Protein: ENSMUSP00000114365
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
63 |
2e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149777
|
| SMART Domains |
Protein: ENSMUSP00000115365
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
70 |
2.7e-9 |
PFAM |
|
Pfam:Mito_carr
|
92 |
156 |
8.7e-15 |
PFAM |
|
Pfam:Mito_carr
|
158 |
220 |
6.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154001
|
| SMART Domains |
Protein: ENSMUSP00000116336
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
70 |
3.1e-10 |
PFAM |
|
Pfam:Mito_carr
|
92 |
156 |
9.8e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155104
|
| SMART Domains |
Protein: ENSMUSP00000115445
Gene: ENSMUSG00000018677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
69 |
3.7e-9 |
PFAM |
|
Pfam:Mito_carr
|
92 |
156 |
1.2e-14 |
PFAM |
|
Pfam:Mito_carr
|
158 |
248 |
5.4e-21 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC25 transporter or mitochondrial carrier family of proteins. Members of this family are encoded by the nuclear genome while their protein products are usually embedded in the inner mitochondrial membrane and exhibit wide-ranging substrate specificity. Although the encoded protein is currently considered an orphan transporter, this protein is related to other carriers known to transport amino acids. This protein may play a role in iron homeostasis. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,543,958 (GRCm39) |
F528L |
probably benign |
Het |
| Aadacl3 |
T |
G |
4: 144,182,778 (GRCm39) |
D230A |
probably damaging |
Het |
| Adgrf3 |
T |
A |
5: 30,403,579 (GRCm39) |
|
probably benign |
Het |
| Agtr1a |
A |
C |
13: 30,565,357 (GRCm39) |
T141P |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,621,300 (GRCm39) |
D195E |
probably benign |
Het |
| AY074887 |
G |
A |
9: 54,857,786 (GRCm39) |
T113I |
probably damaging |
Het |
| Cacna1c |
G |
A |
6: 119,034,314 (GRCm39) |
A71V |
|
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,003,351 (GRCm39) |
V78E |
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,627,155 (GRCm39) |
Y225F |
probably benign |
Het |
| Cyp2j13 |
T |
A |
4: 95,933,777 (GRCm39) |
H369L |
probably benign |
Het |
| Dagla |
T |
C |
19: 10,225,587 (GRCm39) |
E859G |
probably benign |
Het |
| Duox1 |
C |
A |
2: 122,168,152 (GRCm39) |
S1092R |
possibly damaging |
Het |
| Elfn2 |
C |
A |
15: 78,556,561 (GRCm39) |
S662I |
probably benign |
Het |
| Epor |
A |
T |
9: 21,870,741 (GRCm39) |
C380S |
probably benign |
Het |
| Fsd2 |
T |
C |
7: 81,190,090 (GRCm39) |
E564G |
probably benign |
Het |
| Hace1 |
C |
T |
10: 45,481,694 (GRCm39) |
T117I |
unknown |
Het |
| Ift172 |
A |
G |
5: 31,412,985 (GRCm39) |
M1488T |
probably benign |
Het |
| Insyn1 |
A |
G |
9: 58,406,623 (GRCm39) |
T178A |
probably damaging |
Het |
| Kdm3b |
A |
G |
18: 34,952,840 (GRCm39) |
E1070G |
probably damaging |
Het |
| Lrp6 |
A |
G |
6: 134,434,711 (GRCm39) |
F1331L |
probably benign |
Het |
| Lrrc74a |
G |
A |
12: 86,783,253 (GRCm39) |
E33K |
probably damaging |
Het |
| Magel2 |
T |
C |
7: 62,027,420 (GRCm39) |
M108T |
unknown |
Het |
| Mief1 |
T |
C |
15: 80,132,584 (GRCm39) |
S127P |
probably benign |
Het |
| Mprip |
T |
C |
11: 59,650,526 (GRCm39) |
V1410A |
probably benign |
Het |
| Muc1 |
G |
A |
3: 89,138,821 (GRCm39) |
V477M |
possibly damaging |
Het |
| Nat8f3 |
A |
T |
6: 85,738,687 (GRCm39) |
M25K |
possibly damaging |
Het |
| Neb |
T |
G |
2: 52,073,781 (GRCm39) |
H5942P |
probably damaging |
Het |
| Nf2 |
A |
T |
11: 4,766,099 (GRCm39) |
Y144N |
probably damaging |
Het |
| Nipbl |
T |
A |
15: 8,368,225 (GRCm39) |
M1166L |
probably benign |
Het |
| Npnt |
A |
T |
3: 132,614,136 (GRCm39) |
L206Q |
probably damaging |
Het |
| Or10ak13 |
T |
C |
4: 118,638,996 (GRCm39) |
Y262C |
probably damaging |
Het |
| Or4g7 |
A |
G |
2: 111,309,992 (GRCm39) |
T288A |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,604,127 (GRCm39) |
I254N |
probably damaging |
Het |
| Parg |
A |
G |
14: 31,932,492 (GRCm39) |
K444R |
probably benign |
Het |
| Pcbp4 |
A |
T |
9: 106,337,202 (GRCm39) |
|
probably null |
Het |
| Pcdhgb4 |
A |
G |
18: 37,853,847 (GRCm39) |
S81G |
probably benign |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plekho2 |
T |
C |
9: 65,464,058 (GRCm39) |
N264D |
probably benign |
Het |
| Pmpca |
T |
A |
2: 26,281,893 (GRCm39) |
M182K |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,252,695 (GRCm39) |
H476R |
probably benign |
Het |
| Prxl2a |
G |
A |
14: 40,720,836 (GRCm39) |
P126S |
possibly damaging |
Het |
| Rab7 |
T |
C |
6: 87,989,369 (GRCm39) |
S34G |
probably damaging |
Het |
| Rbp3 |
G |
A |
14: 33,678,395 (GRCm39) |
R781H |
probably damaging |
Het |
| Rngtt |
T |
A |
4: 33,368,695 (GRCm39) |
S409R |
probably damaging |
Het |
| Ryr1 |
C |
A |
7: 28,751,753 (GRCm39) |
R3680L |
probably benign |
Het |
| Sbno1 |
T |
C |
5: 124,512,618 (GRCm39) |
S1384G |
possibly damaging |
Het |
| Shmt1 |
T |
C |
11: 60,685,763 (GRCm39) |
D271G |
probably benign |
Het |
| Sin3a |
C |
T |
9: 57,034,510 (GRCm39) |
R1228W |
probably damaging |
Het |
| Smcr8 |
T |
A |
11: 60,670,254 (GRCm39) |
S467R |
probably damaging |
Het |
| Spaca7 |
A |
G |
8: 12,636,480 (GRCm39) |
Y102C |
probably damaging |
Het |
| Tacr1 |
A |
G |
6: 82,380,706 (GRCm39) |
Y39C |
probably damaging |
Het |
| Tenm3 |
G |
A |
8: 48,752,680 (GRCm39) |
S894L |
possibly damaging |
Het |
| Tmem115 |
T |
A |
9: 107,415,132 (GRCm39) |
M307K |
possibly damaging |
Het |
| Tnn |
A |
G |
1: 159,943,846 (GRCm39) |
V989A |
possibly damaging |
Het |
| Trabd2b |
T |
A |
4: 114,460,186 (GRCm39) |
N441K |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,373,709 (GRCm39) |
K368R |
probably benign |
Het |
| Tubgcp2 |
C |
T |
7: 139,576,705 (GRCm39) |
V858I |
probably benign |
Het |
| Ufsp2 |
G |
T |
8: 46,436,614 (GRCm39) |
V122L |
probably benign |
Het |
| Wdr26 |
A |
G |
1: 181,011,913 (GRCm39) |
C470R |
possibly damaging |
Het |
| Xab2 |
T |
C |
8: 3,663,845 (GRCm39) |
H358R |
probably benign |
Het |
| Xrcc5 |
A |
G |
1: 72,422,905 (GRCm39) |
I697V |
probably benign |
Het |
|
| Other mutations in Slc25a39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01451:Slc25a39
|
APN |
11 |
102,295,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01601:Slc25a39
|
APN |
11 |
102,296,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02734:Slc25a39
|
APN |
11 |
102,295,349 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03382:Slc25a39
|
APN |
11 |
102,297,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0218:Slc25a39
|
UTSW |
11 |
102,297,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0359:Slc25a39
|
UTSW |
11 |
102,297,395 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0939:Slc25a39
|
UTSW |
11 |
102,295,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1702:Slc25a39
|
UTSW |
11 |
102,297,452 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2047:Slc25a39
|
UTSW |
11 |
102,296,657 (GRCm39) |
splice site |
probably benign |
|
|
R2367:Slc25a39
|
UTSW |
11 |
102,294,477 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4018:Slc25a39
|
UTSW |
11 |
102,295,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4755:Slc25a39
|
UTSW |
11 |
102,297,492 (GRCm39) |
start gained |
probably benign |
|
|
R4878:Slc25a39
|
UTSW |
11 |
102,294,501 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5629:Slc25a39
|
UTSW |
11 |
102,295,719 (GRCm39) |
nonsense |
probably null |
|
|
R5704:Slc25a39
|
UTSW |
11 |
102,294,220 (GRCm39) |
unclassified |
probably benign |
|
|
R6092:Slc25a39
|
UTSW |
11 |
102,295,719 (GRCm39) |
nonsense |
probably null |
|
|
R6502:Slc25a39
|
UTSW |
11 |
102,295,286 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6955:Slc25a39
|
UTSW |
11 |
102,294,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6980:Slc25a39
|
UTSW |
11 |
102,296,601 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8990:Slc25a39
|
UTSW |
11 |
102,295,895 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9574:Slc25a39
|
UTSW |
11 |
102,295,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGACCTGCAAAGAGTCC -3'
(R):5'- GAATGGTGAGTTGACTGCCCTG -3'
Sequencing Primer
(F):5'- TGCAAAGAGTCCCCTGGTG -3'
(R):5'- GGTGACCTACAGAACATTGCAATGC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation