Incidental Mutation 'R2047:Slc25a39'
ID |
222133 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc25a39
|
Ensembl Gene |
ENSMUSG00000018677 |
Gene Name |
solute carrier family 25, member 39 |
Synonyms |
D11Ertd333e, 3010027G13Rik |
MMRRC Submission |
040054-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.883)
|
Stock # |
R2047 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
102293811-102298772 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 102296657 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115445
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006750]
[ENSMUST00000018821]
[ENSMUST00000107098]
[ENSMUST00000107102]
[ENSMUST00000107103]
[ENSMUST00000107105]
[ENSMUST00000124755]
[ENSMUST00000130436]
[ENSMUST00000134669]
[ENSMUST00000142097]
[ENSMUST00000154001]
[ENSMUST00000149777]
[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
|
SMART Domains |
Protein: ENSMUSP00000018821 Gene: ENSMUSG00000018677
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
|
SMART Domains |
Protein: ENSMUSP00000102715 Gene: ENSMUSG00000018677
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 |
noncoding transcript
Transcript: ENSMUST00000147860
|
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000147160
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123688
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141535
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131219
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142157
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146330
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128825
|
SMART Domains |
Protein: ENSMUSP00000121790 Gene: ENSMUSG00000018677
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
35 |
77 |
6.5e-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 |
noncoding transcript
Transcript: ENSMUST00000153395
|
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: 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: 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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183859
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150982
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
100% (57/57) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
A |
G |
7: 130,747,836 (GRCm39) |
F52S |
probably damaging |
Het |
Acot12 |
T |
C |
13: 91,931,122 (GRCm39) |
S457P |
probably damaging |
Het |
Adcy5 |
G |
A |
16: 35,110,478 (GRCm39) |
V882M |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,991,664 (GRCm39) |
D4316G |
possibly damaging |
Het |
Aldh1l2 |
G |
A |
10: 83,342,607 (GRCm39) |
A401V |
probably damaging |
Het |
Apol7e |
A |
G |
15: 77,601,810 (GRCm39) |
H136R |
probably benign |
Het |
Arl5a |
A |
G |
2: 52,302,072 (GRCm39) |
|
probably null |
Het |
Asns |
G |
T |
6: 7,680,093 (GRCm39) |
A341E |
probably damaging |
Het |
C7 |
A |
G |
15: 5,075,143 (GRCm39) |
L183P |
probably damaging |
Het |
Cacng2 |
C |
T |
15: 78,003,037 (GRCm39) |
A19T |
probably damaging |
Het |
Ccdc121rt2 |
A |
G |
5: 112,598,575 (GRCm39) |
N374S |
probably benign |
Het |
Ccr4 |
A |
G |
9: 114,321,633 (GRCm39) |
F144S |
probably damaging |
Het |
Ckap2 |
A |
G |
8: 22,658,763 (GRCm39) |
V660A |
probably benign |
Het |
Cramp1 |
A |
T |
17: 25,222,189 (GRCm39) |
Y176* |
probably null |
Het |
Dgki |
A |
G |
6: 36,890,581 (GRCm39) |
S922P |
possibly damaging |
Het |
Drd5 |
C |
T |
5: 38,477,679 (GRCm39) |
S224L |
probably damaging |
Het |
Ei24 |
T |
C |
9: 36,691,459 (GRCm39) |
K341E |
probably benign |
Het |
Eno2 |
A |
T |
6: 124,744,659 (GRCm39) |
|
probably benign |
Het |
Epb41l4a |
T |
C |
18: 33,961,259 (GRCm39) |
N425S |
probably benign |
Het |
F13b |
T |
G |
1: 139,435,961 (GRCm39) |
C256G |
probably damaging |
Het |
Gp6 |
A |
T |
7: 4,376,270 (GRCm39) |
|
probably benign |
Het |
H2-Q7 |
A |
T |
17: 35,659,123 (GRCm39) |
R191S |
probably damaging |
Het |
Ivns1abp |
T |
A |
1: 151,227,382 (GRCm39) |
S63R |
possibly damaging |
Het |
Kcnj16 |
A |
G |
11: 110,915,946 (GRCm39) |
|
probably null |
Het |
Lpcat4 |
T |
C |
2: 112,075,142 (GRCm39) |
|
probably null |
Het |
Lrrc14b |
T |
C |
13: 74,511,561 (GRCm39) |
K173R |
probably benign |
Het |
Maml3 |
C |
A |
3: 51,597,866 (GRCm39) |
R939S |
probably damaging |
Het |
Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
Mrpl46 |
T |
A |
7: 78,431,312 (GRCm39) |
Y82F |
probably damaging |
Het |
Mthfs |
T |
A |
9: 89,097,356 (GRCm39) |
I71N |
probably damaging |
Het |
Nectin4 |
T |
C |
1: 171,212,720 (GRCm39) |
V351A |
possibly damaging |
Het |
Npas3 |
T |
C |
12: 54,115,612 (GRCm39) |
F827L |
probably damaging |
Het |
Nrp1 |
G |
A |
8: 129,224,577 (GRCm39) |
|
probably benign |
Het |
Ocln |
C |
A |
13: 100,671,632 (GRCm39) |
A242S |
probably damaging |
Het |
Or10ad1c |
T |
A |
15: 98,084,920 (GRCm39) |
T253S |
probably damaging |
Het |
Or13g1 |
G |
A |
7: 85,956,012 (GRCm39) |
T103I |
probably damaging |
Het |
Or5d37 |
A |
T |
2: 87,924,237 (GRCm39) |
N14K |
probably benign |
Het |
Pappa |
T |
C |
4: 65,149,378 (GRCm39) |
|
probably benign |
Het |
Ptpn6 |
T |
C |
6: 124,698,752 (GRCm39) |
T480A |
probably benign |
Het |
Pycr1 |
A |
T |
11: 120,532,512 (GRCm39) |
D168E |
possibly damaging |
Het |
Rnf6 |
T |
C |
5: 146,148,674 (GRCm39) |
T126A |
probably damaging |
Het |
Slc35f4 |
G |
T |
14: 49,541,029 (GRCm39) |
|
probably benign |
Het |
Sppl2a |
C |
T |
2: 126,768,772 (GRCm39) |
A112T |
probably damaging |
Het |
Sptbn1 |
A |
C |
11: 30,088,360 (GRCm39) |
|
probably benign |
Het |
Sqle |
T |
C |
15: 59,197,907 (GRCm39) |
Y376H |
probably benign |
Het |
Terb1 |
A |
T |
8: 105,212,094 (GRCm39) |
Y296N |
probably damaging |
Het |
Ttbk2 |
T |
C |
2: 120,579,397 (GRCm39) |
H506R |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,737,879 (GRCm39) |
D4220G |
probably benign |
Het |
Tub |
A |
G |
7: 108,625,939 (GRCm39) |
D230G |
probably benign |
Het |
Ube2d3 |
T |
A |
3: 135,170,967 (GRCm39) |
I137K |
probably benign |
Het |
Vldlr |
G |
T |
19: 27,212,238 (GRCm39) |
C84F |
probably damaging |
Het |
Vmn1r54 |
A |
T |
6: 90,246,970 (GRCm39) |
I295F |
probably damaging |
Het |
Vmn2r56 |
A |
G |
7: 12,466,918 (GRCm39) |
S39P |
probably damaging |
Het |
Zfp358 |
A |
G |
8: 3,545,934 (GRCm39) |
H172R |
probably damaging |
Het |
Zfp619 |
T |
C |
7: 39,187,062 (GRCm39) |
C1031R |
probably damaging |
Het |
Zfp777 |
A |
G |
6: 48,021,280 (GRCm39) |
I114T |
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 |
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 |
R8717:Slc25a39
|
UTSW |
11 |
102,294,620 (GRCm39) |
missense |
probably benign |
0.00 |
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'- AGTCCCTCAGAGACACATTGATTC -3'
(R):5'- ATCCCTCGAGTACCTGGGTTAC -3'
Sequencing Primer
(F):5'- AGAGACACATTGATTCTGCTCC -3'
(R):5'- TGATCATAGAGTAGTACATGAGCCC -3'
|
Posted On |
2014-08-25 |