Incidental Mutation 'R2317:Slc25a36'
| ID |
245527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a36
|
| Ensembl Gene |
ENSMUSG00000032449 |
| Gene Name |
solute carrier family 25, member 36 |
| Synonyms |
C330005L02Rik |
| MMRRC Submission |
040312-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.658)
|
| Stock # |
R2317 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
96957014-96993094 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 96961235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 267
(T267I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035024]
[ENSMUST00000085206]
[ENSMUST00000153070]
|
| AlphaFold |
Q922G0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035024
AA Change: T128I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000035024
Gene: ENSMUSG00000032449
AA Change: T128I
| 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 damaging
Transcript: ENSMUST00000085206
AA Change: T267I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082302
Gene: ENSMUSG00000032449
AA Change: T267I
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc102a |
T |
C |
8: 95,634,957 (GRCm39) |
D327G |
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cfap126 |
A |
G |
1: 170,953,700 (GRCm39) |
D134G |
possibly damaging |
Het |
| Cript |
T |
C |
17: 87,335,139 (GRCm39) |
L19P |
probably benign |
Het |
| Cwf19l1 |
A |
C |
19: 44,120,597 (GRCm39) |
L39V |
possibly damaging |
Het |
| Eif2b4 |
T |
C |
5: 31,348,920 (GRCm39) |
|
probably null |
Het |
| Esp16 |
A |
G |
17: 39,850,738 (GRCm39) |
N39S |
probably benign |
Het |
| Fbxo30 |
A |
G |
10: 11,166,078 (GRCm39) |
N267D |
probably damaging |
Het |
| Gabra6 |
T |
C |
11: 42,208,607 (GRCm39) |
|
probably null |
Het |
| Gp1ba |
A |
G |
11: 70,531,473 (GRCm39) |
|
probably benign |
Het |
| Klf12 |
C |
T |
14: 100,179,503 (GRCm39) |
R279Q |
probably benign |
Het |
| Lats1 |
C |
T |
10: 7,567,540 (GRCm39) |
Q104* |
probably null |
Het |
| Myrfl |
A |
G |
10: 116,675,289 (GRCm39) |
Y215H |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,325,189 (GRCm39) |
I963T |
probably damaging |
Het |
| Neurod6 |
A |
G |
6: 55,655,906 (GRCm39) |
Y244H |
probably damaging |
Het |
| Nodal |
T |
C |
10: 61,254,212 (GRCm39) |
M45T |
possibly damaging |
Het |
| Nuggc |
A |
G |
14: 65,861,591 (GRCm39) |
E479G |
possibly damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,501,842 (GRCm39) |
D467G |
probably benign |
Het |
| Pnmt |
C |
A |
11: 98,277,677 (GRCm39) |
Q74K |
probably benign |
Het |
| Slc35e3 |
A |
G |
10: 117,580,804 (GRCm39) |
S167P |
probably damaging |
Het |
| Sprr2f |
C |
A |
3: 92,273,390 (GRCm39) |
P63H |
unknown |
Het |
| Stt3a |
T |
C |
9: 36,659,371 (GRCm39) |
I323V |
probably benign |
Het |
| Tedc2 |
A |
G |
17: 24,435,358 (GRCm39) |
S344P |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,245,514 (GRCm39) |
D3722G |
probably damaging |
Het |
| Zfp35 |
T |
C |
18: 24,136,555 (GRCm39) |
Y300H |
probably damaging |
Het |
| Zfp959 |
A |
G |
17: 56,204,326 (GRCm39) |
D121G |
possibly damaging |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- CTGGCTGGCTTCAAGATTCC -3'
(R):5'- ACTGGTCTCAGGAAGCTAGC -3'
Sequencing Primer
(F):5'- AAGATTCCATGGTCCACTGTG -3'
(R):5'- CTGGTCTCAGGAAGCTAGCTATAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation