Incidental Mutation 'R5629:Slc25a39'
| ID |
442004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a39
|
| Ensembl Gene |
ENSMUSG00000018677 |
| Gene Name |
solute carrier family 25, member 39 |
| Synonyms |
D11Ertd333e, 3010027G13Rik |
| MMRRC Submission |
043280-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.883)
|
| Stock # |
R5629 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102293811-102298772 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to C
at 102295719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 109
(Y109*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006750]
[ENSMUST00000018821]
[ENSMUST00000107098]
[ENSMUST00000107102]
[ENSMUST00000107103]
[ENSMUST00000107105]
[ENSMUST00000142097]
[ENSMUST00000124755]
[ENSMUST00000130436]
[ENSMUST00000134669]
[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 |
possibly damaging
Transcript: ENSMUST00000018821
AA Change: I140S
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000018821
Gene: ENSMUSG00000018677
AA Change: I140S
| 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: I132S
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102715
Gene: ENSMUSG00000018677
AA Change: I132S
| 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: ENSMUST00000123688
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142097
AA Change: Y109*
|
| SMART Domains |
Protein: ENSMUSP00000114365
Gene: ENSMUSG00000018677
AA Change: Y109*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
63 |
2e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124755
AA Change: I140S
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120021
Gene: ENSMUSG00000018677
AA Change: I140S
| 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 |
possibly damaging
Transcript: ENSMUST00000130436
AA Change: I140S
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115087
Gene: ENSMUSG00000018677
AA Change: I140S
| 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 null
Transcript: ENSMUST00000134669
AA Change: Y117*
|
| SMART Domains |
Protein: ENSMUSP00000114481
Gene: ENSMUSG00000018677
AA Change: Y117*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
7 |
69 |
1.9e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141535
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149777
AA Change: I140S
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000115365
Gene: ENSMUSG00000018677
AA Change: I140S
| 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 |
noncoding transcript
Transcript: ENSMUST00000131219
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142157
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132876
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147860
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000153395
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154001
AA Change: I140S
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000116336
Gene: ENSMUSG00000018677
AA Change: I140S
| 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 |
possibly damaging
Transcript: ENSMUST00000155104
AA Change: I140S
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115445
Gene: ENSMUSG00000018677
AA Change: I140S
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
G |
A |
5: 36,014,507 (GRCm39) |
D189N |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,775,114 (GRCm39) |
V1052D |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,057,847 (GRCm39) |
Y2077H |
probably damaging |
Het |
| Apol7e |
A |
T |
15: 77,602,276 (GRCm39) |
K291N |
probably benign |
Het |
| Arsk |
A |
T |
13: 76,242,027 (GRCm39) |
I82N |
probably damaging |
Het |
| Art1 |
A |
G |
7: 101,756,286 (GRCm39) |
Q159R |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,598,159 (GRCm39) |
V733A |
probably damaging |
Het |
| Btn2a2 |
A |
T |
13: 23,666,130 (GRCm39) |
|
probably null |
Het |
| Catsper1 |
C |
T |
19: 5,386,165 (GRCm39) |
P133S |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,726,266 (GRCm39) |
D3165G |
probably benign |
Het |
| Cldn19 |
T |
A |
4: 119,114,116 (GRCm39) |
V86E |
probably damaging |
Het |
| Ctnna1 |
T |
A |
18: 35,382,802 (GRCm39) |
D649E |
probably benign |
Het |
| Cttnbp2 |
A |
G |
6: 18,405,217 (GRCm39) |
I1094T |
probably damaging |
Het |
| Ddx24 |
T |
C |
12: 103,391,806 (GRCm39) |
|
probably benign |
Het |
| Ern2 |
T |
A |
7: 121,769,389 (GRCm39) |
H879L |
probably damaging |
Het |
| Etv4 |
T |
A |
11: 101,662,751 (GRCm39) |
H277L |
probably damaging |
Het |
| Faap100 |
G |
T |
11: 120,267,837 (GRCm39) |
A312D |
probably damaging |
Het |
| Glipr1l1 |
G |
A |
10: 111,914,308 (GRCm39) |
C223Y |
possibly damaging |
Het |
| Gna14 |
T |
C |
19: 16,414,097 (GRCm39) |
S14P |
possibly damaging |
Het |
| Hapln1 |
A |
G |
13: 89,749,634 (GRCm39) |
T60A |
probably damaging |
Het |
| Hars2 |
T |
A |
18: 36,921,719 (GRCm39) |
Y273* |
probably null |
Het |
| Ighv5-6 |
A |
T |
12: 113,589,242 (GRCm39) |
Y79* |
probably null |
Het |
| Iqgap2 |
T |
A |
13: 95,768,682 (GRCm39) |
N1406I |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 33,860,304 (GRCm39) |
T215A |
possibly damaging |
Het |
| Krtap13-1 |
T |
A |
16: 88,526,047 (GRCm39) |
S90R |
probably benign |
Het |
| Mettl8 |
T |
C |
2: 70,795,913 (GRCm39) |
I372V |
probably benign |
Het |
| Mfn1 |
A |
T |
3: 32,615,659 (GRCm39) |
T341S |
possibly damaging |
Het |
| Mocos |
T |
A |
18: 24,797,142 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
C |
7: 141,415,036 (GRCm39) |
S2661P |
possibly damaging |
Het |
| Myo15a |
C |
T |
11: 60,370,578 (GRCm39) |
P1113S |
probably benign |
Het |
| Myo5a |
A |
T |
9: 75,111,127 (GRCm39) |
I1540F |
possibly damaging |
Het |
| Myoc |
T |
C |
1: 162,476,156 (GRCm39) |
Y287H |
probably damaging |
Het |
| Napepld |
A |
G |
5: 21,880,901 (GRCm39) |
F165L |
probably benign |
Het |
| Ndufb10 |
T |
C |
17: 24,941,656 (GRCm39) |
E102G |
probably damaging |
Het |
| Nrros |
T |
A |
16: 31,963,223 (GRCm39) |
I265F |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,897,460 (GRCm39) |
F891I |
possibly damaging |
Het |
| Nsfl1c |
T |
C |
2: 151,346,085 (GRCm39) |
Y169H |
probably damaging |
Het |
| Oas2 |
G |
A |
5: 120,876,516 (GRCm39) |
Q476* |
probably null |
Het |
| Or51f5 |
A |
T |
7: 102,423,847 (GRCm39) |
I39F |
possibly damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,624,780 (GRCm39) |
W14L |
probably damaging |
Het |
| Pip4p1 |
T |
C |
14: 51,165,373 (GRCm39) |
H278R |
probably benign |
Het |
| Piwil2 |
C |
T |
14: 70,660,416 (GRCm39) |
V70M |
probably damaging |
Het |
| Prss23 |
A |
C |
7: 89,159,400 (GRCm39) |
V223G |
probably damaging |
Het |
| Rarres2 |
A |
T |
6: 48,547,194 (GRCm39) |
L122Q |
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,780,598 (GRCm39) |
V776A |
probably benign |
Het |
| Robo3 |
G |
A |
9: 37,330,507 (GRCm39) |
Q1008* |
probably null |
Het |
| Robo4 |
G |
A |
9: 37,319,658 (GRCm39) |
C636Y |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,395,464 (GRCm39) |
M196V |
probably benign |
Het |
| Septin7 |
T |
A |
9: 25,199,589 (GRCm39) |
Y163N |
probably damaging |
Het |
| Skint6 |
G |
A |
4: 112,870,176 (GRCm39) |
T594I |
possibly damaging |
Het |
| Slc23a1 |
T |
C |
18: 35,759,545 (GRCm39) |
H13R |
probably benign |
Het |
| Slc8a3 |
G |
A |
12: 81,246,405 (GRCm39) |
R883C |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,987,435 (GRCm39) |
Y1575F |
probably benign |
Het |
| Spdye4c |
T |
A |
2: 128,438,705 (GRCm39) |
I321N |
probably damaging |
Het |
| Stk32b |
G |
A |
5: 37,614,576 (GRCm39) |
P311S |
probably damaging |
Het |
| Svs3a |
T |
A |
2: 164,132,040 (GRCm39) |
S203T |
probably benign |
Het |
| Taf3 |
A |
T |
2: 9,922,989 (GRCm39) |
I45N |
probably damaging |
Het |
| Taf7 |
T |
C |
18: 37,776,555 (GRCm39) |
N4S |
probably benign |
Het |
| Tial1 |
T |
A |
7: 128,046,421 (GRCm39) |
D87V |
probably damaging |
Het |
| Tmem120a |
T |
A |
5: 135,770,904 (GRCm39) |
E78V |
probably benign |
Het |
| Tmem19 |
A |
G |
10: 115,183,165 (GRCm39) |
F137L |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trim30d |
T |
C |
7: 104,137,136 (GRCm39) |
K23E |
possibly damaging |
Het |
| Ubxn7 |
C |
A |
16: 32,151,117 (GRCm39) |
H4Q |
unknown |
Het |
| Usp40 |
C |
T |
1: 87,908,731 (GRCm39) |
R590H |
probably benign |
Het |
| Vmn1r90 |
A |
G |
7: 14,296,011 (GRCm39) |
M22T |
possibly damaging |
Het |
| Vmn2r1 |
G |
A |
3: 64,012,538 (GRCm39) |
V800M |
possibly damaging |
Het |
| Vps11 |
A |
T |
9: 44,267,673 (GRCm39) |
I313N |
probably damaging |
Het |
| Zhx1 |
A |
G |
15: 57,918,207 (GRCm39) |
V13A |
probably damaging |
Het |
| Zic4 |
G |
A |
9: 91,260,805 (GRCm39) |
R20H |
probably benign |
Het |
| Zp3r |
C |
T |
1: 130,510,616 (GRCm39) |
V369M |
probably damaging |
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 |
|
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'- AGGGCCTGAGGGTTTAACATAC -3'
(R):5'- GCAGGCCTTGTTCATCTCTG -3'
Sequencing Primer
(F):5'- GAGGGTTTAACATACTCCCCC -3'
(R):5'- CTGGCTTGGTCAGGATGCC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation