Incidental Mutation 'IGL01552:Slc25a36'
ID |
90591 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc25a36
|
Ensembl Gene |
ENSMUSG00000032449 |
Gene Name |
solute carrier family 25, member 36 |
Synonyms |
C330005L02Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.624)
|
Stock # |
IGL01552
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
96957014-96993094 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96961286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 111
(V111A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035024]
[ENSMUST00000085206]
[ENSMUST00000153070]
|
AlphaFold |
Q922G0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035024
AA Change: V111A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000035024 Gene: ENSMUSG00000032449 AA Change: V111A
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
4 |
69 |
1.1e-12 |
PFAM |
Pfam:Mito_carr
|
83 |
172 |
2.7e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000085206
AA Change: V250A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000082302 Gene: ENSMUSG00000032449 AA Change: V250A
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
2 |
113 |
9.5e-27 |
PFAM |
Pfam:Mito_carr
|
114 |
207 |
2.5e-23 |
PFAM |
Pfam:Mito_carr
|
222 |
311 |
6e-20 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137372
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148995
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153070
|
SMART Domains |
Protein: ENSMUSP00000116813 Gene: ENSMUSG00000032449
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
2 |
113 |
5.8e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155291
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl8a |
T |
C |
1: 135,080,606 (GRCm39) |
|
probably null |
Het |
Bivm |
A |
G |
1: 44,165,933 (GRCm39) |
N128D |
probably benign |
Het |
Cfhr4 |
A |
G |
1: 139,667,040 (GRCm39) |
Y412H |
probably damaging |
Het |
Chil3 |
C |
A |
3: 106,056,164 (GRCm39) |
G330V |
probably damaging |
Het |
Dscaml1 |
A |
G |
9: 45,359,206 (GRCm39) |
H155R |
probably damaging |
Het |
Elapor1 |
A |
G |
3: 108,388,628 (GRCm39) |
W252R |
possibly damaging |
Het |
Etl4 |
T |
A |
2: 20,783,000 (GRCm39) |
V687D |
probably damaging |
Het |
Fbxw10 |
A |
T |
11: 62,748,510 (GRCm39) |
|
probably null |
Het |
Gfpt2 |
G |
T |
11: 49,695,832 (GRCm39) |
E21* |
probably null |
Het |
Gm10197 |
C |
T |
19: 53,360,122 (GRCm39) |
V26I |
possibly damaging |
Het |
Golim4 |
T |
C |
3: 75,863,502 (GRCm39) |
E35G |
probably damaging |
Het |
Igdcc4 |
A |
G |
9: 65,029,784 (GRCm39) |
|
probably benign |
Het |
Ino80d |
A |
G |
1: 63,097,136 (GRCm39) |
|
probably benign |
Het |
Ipo13 |
A |
G |
4: 117,758,161 (GRCm39) |
M734T |
probably benign |
Het |
Klk1b27 |
C |
T |
7: 43,704,039 (GRCm39) |
L61F |
probably damaging |
Het |
Lamtor5 |
T |
C |
3: 107,186,324 (GRCm39) |
V31A |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,424,379 (GRCm39) |
L769* |
probably null |
Het |
Nipsnap1 |
A |
T |
11: 4,839,124 (GRCm39) |
S135C |
probably damaging |
Het |
Or4k35 |
C |
A |
2: 111,100,257 (GRCm39) |
G152C |
probably damaging |
Het |
Pparg |
A |
T |
6: 115,467,083 (GRCm39) |
H452L |
probably benign |
Het |
Rab34 |
C |
T |
11: 78,082,264 (GRCm39) |
A202V |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,656,228 (GRCm39) |
T1923S |
possibly damaging |
Het |
Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
Sh2d4b |
T |
C |
14: 40,582,605 (GRCm39) |
Q195R |
probably benign |
Het |
Sik2 |
C |
A |
9: 50,828,822 (GRCm39) |
|
probably benign |
Het |
Slco1a8 |
T |
C |
6: 141,933,432 (GRCm39) |
K451R |
possibly damaging |
Het |
Sptbn5 |
A |
T |
2: 119,884,903 (GRCm39) |
|
probably benign |
Het |
Tac2 |
G |
A |
10: 127,561,970 (GRCm39) |
E25K |
possibly damaging |
Het |
Tnc |
A |
G |
4: 63,888,645 (GRCm39) |
V1807A |
probably damaging |
Het |
Top3b |
T |
C |
16: 16,705,687 (GRCm39) |
|
probably benign |
Het |
Zfp827 |
A |
G |
8: 79,802,820 (GRCm39) |
E464G |
probably damaging |
Het |
|
Other mutations in Slc25a36 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01634:Slc25a36
|
APN |
9 |
96,962,534 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02149:Slc25a36
|
APN |
9 |
96,975,122 (GRCm39) |
splice site |
probably benign |
|
R0394:Slc25a36
|
UTSW |
9 |
96,962,257 (GRCm39) |
missense |
probably benign |
0.36 |
R0518:Slc25a36
|
UTSW |
9 |
96,979,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1024:Slc25a36
|
UTSW |
9 |
96,961,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R1208:Slc25a36
|
UTSW |
9 |
96,967,188 (GRCm39) |
splice site |
probably benign |
|
R1439:Slc25a36
|
UTSW |
9 |
96,975,126 (GRCm39) |
splice site |
probably benign |
|
R1466:Slc25a36
|
UTSW |
9 |
96,962,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R1466:Slc25a36
|
UTSW |
9 |
96,962,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R1920:Slc25a36
|
UTSW |
9 |
96,975,135 (GRCm39) |
missense |
probably benign |
0.00 |
R2247:Slc25a36
|
UTSW |
9 |
96,982,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R2317:Slc25a36
|
UTSW |
9 |
96,961,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R2518:Slc25a36
|
UTSW |
9 |
96,961,124 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3756:Slc25a36
|
UTSW |
9 |
96,982,208 (GRCm39) |
nonsense |
probably null |
|
R4405:Slc25a36
|
UTSW |
9 |
96,967,171 (GRCm39) |
missense |
probably benign |
0.00 |
R4624:Slc25a36
|
UTSW |
9 |
96,961,178 (GRCm39) |
missense |
probably damaging |
0.99 |
R4719:Slc25a36
|
UTSW |
9 |
96,972,172 (GRCm39) |
utr 3 prime |
probably benign |
|
R5492:Slc25a36
|
UTSW |
9 |
96,982,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R6152:Slc25a36
|
UTSW |
9 |
96,982,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R7823:Slc25a36
|
UTSW |
9 |
96,966,444 (GRCm39) |
critical splice donor site |
probably null |
|
R8139:Slc25a36
|
UTSW |
9 |
96,962,505 (GRCm39) |
missense |
probably benign |
|
R8925:Slc25a36
|
UTSW |
9 |
96,982,126 (GRCm39) |
critical splice donor site |
probably null |
|
R8927:Slc25a36
|
UTSW |
9 |
96,982,126 (GRCm39) |
critical splice donor site |
probably null |
|
R8984:Slc25a36
|
UTSW |
9 |
96,961,259 (GRCm39) |
missense |
probably benign |
0.36 |
R9280:Slc25a36
|
UTSW |
9 |
96,982,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R9485:Slc25a36
|
UTSW |
9 |
96,962,522 (GRCm39) |
missense |
probably benign |
|
R9631:Slc25a36
|
UTSW |
9 |
96,982,153 (GRCm39) |
missense |
probably benign |
0.00 |
R9712:Slc25a36
|
UTSW |
9 |
96,961,230 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2013-12-09 |