Incidental Mutation 'R1208:Slc25a36'
| ID |
164830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a36
|
| Ensembl Gene |
ENSMUSG00000032449 |
| Gene Name |
solute carrier family 25, member 36 |
| Synonyms |
C330005L02Rik |
| MMRRC Submission |
039277-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.624)
|
| Stock # |
R1208 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
96957014-96993094 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 96967188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035024]
[ENSMUST00000085206]
[ENSMUST00000124250]
[ENSMUST00000153070]
|
| AlphaFold |
Q922G0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035024
|
| SMART Domains |
Protein: ENSMUSP00000035024
Gene: ENSMUSG00000032449
| 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
|
| SMART Domains |
Protein: ENSMUSP00000082302
Gene: ENSMUSG00000032449
| 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 |
probably benign
Transcript: ENSMUST00000124250
|
| SMART Domains |
Protein: ENSMUSP00000119696
Gene: ENSMUSG00000032449
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
93 |
3.6e-23 |
PFAM |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125071
|
| 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 |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
C |
A |
7: 29,260,708 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2fm3 |
C |
T |
3: 59,772,715 (GRCm39) |
P73L |
probably benign |
Het |
| Asb14 |
T |
C |
14: 26,622,375 (GRCm39) |
|
probably benign |
Het |
| Atp13a3 |
A |
T |
16: 30,173,065 (GRCm39) |
C271S |
probably benign |
Het |
| Ccl25 |
T |
A |
8: 4,407,631 (GRCm39) |
S199T |
possibly damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cep104 |
A |
T |
4: 154,069,836 (GRCm39) |
D270V |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,327,877 (GRCm39) |
Y2084N |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,755,592 (GRCm39) |
V214A |
probably benign |
Het |
| Epb41l4b |
C |
T |
4: 57,077,252 (GRCm39) |
|
probably null |
Het |
| Gys2 |
A |
G |
6: 142,396,193 (GRCm39) |
|
probably null |
Het |
| Lig4 |
T |
C |
8: 10,021,062 (GRCm39) |
E906G |
probably damaging |
Het |
| Mast3 |
G |
A |
8: 71,240,916 (GRCm39) |
|
probably null |
Het |
| Mta2 |
G |
A |
19: 8,928,381 (GRCm39) |
R560H |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,134,631 (GRCm39) |
L478P |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,193,912 (GRCm39) |
L673* |
probably null |
Het |
| Niban3 |
A |
T |
8: 72,053,119 (GRCm39) |
T125S |
probably damaging |
Het |
| Or4c35 |
G |
A |
2: 89,808,836 (GRCm39) |
C238Y |
probably damaging |
Het |
| Pdpk1 |
C |
A |
17: 24,312,583 (GRCm39) |
|
probably null |
Het |
| Pphln1 |
T |
C |
15: 93,357,610 (GRCm39) |
W162R |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,811,339 (GRCm39) |
V183A |
probably damaging |
Het |
| Recql5 |
T |
C |
11: 115,783,982 (GRCm39) |
K951E |
probably damaging |
Het |
| Rev1 |
T |
C |
1: 38,098,199 (GRCm39) |
|
probably benign |
Het |
| Slc25a25 |
T |
C |
2: 32,307,437 (GRCm39) |
E309G |
probably benign |
Het |
| Sycp2 |
A |
T |
2: 177,998,421 (GRCm39) |
I1033N |
possibly damaging |
Het |
| Tbpl2 |
A |
T |
2: 23,984,783 (GRCm39) |
N120K |
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,602,771 (GRCm39) |
L876Q |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,356,282 (GRCm39) |
T1140A |
probably benign |
Homo |
| Vmn1r40 |
A |
G |
6: 89,691,326 (GRCm39) |
I48V |
probably benign |
Het |
| Zbbx |
T |
C |
3: 74,945,299 (GRCm39) |
I708V |
possibly damaging |
Het |
| Zfp318 |
AGAAGA |
AGAAGAGGAAGA |
17: 46,723,446 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slc25a36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01552:Slc25a36
|
APN |
9 |
96,961,286 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-03-28 |
Incidental Mutation