Incidental Mutation 'PIT4494001:Slc25a40'
| ID |
556145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a40
|
| Ensembl Gene |
ENSMUSG00000054099 |
| Gene Name |
solute carrier family 25, member 40 |
| Synonyms |
B230315F11Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4494001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
8472850-8504797 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 8490737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 95
(I95S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066921]
[ENSMUST00000170496]
[ENSMUST00000196727]
[ENSMUST00000198792]
|
| AlphaFold |
Q8BGP6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066921
AA Change: I95S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067611
Gene: ENSMUSG00000054099
AA Change: I95S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
13 |
137 |
1.5e-24 |
PFAM |
|
Pfam:Mito_carr
|
139 |
229 |
4.6e-20 |
PFAM |
|
Pfam:Mito_carr
|
232 |
333 |
3.1e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170496
AA Change: I95S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130630
Gene: ENSMUSG00000054099
AA Change: I95S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
13 |
137 |
5.8e-24 |
PFAM |
|
Pfam:Mito_carr
|
141 |
229 |
1.4e-17 |
PFAM |
|
Pfam:Mito_carr
|
232 |
333 |
2.4e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196727
|
| SMART Domains |
Protein: ENSMUSP00000142511
Gene: ENSMUSG00000054099
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
13 |
80 |
1.4e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198792
AA Change: I95S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143045
Gene: ENSMUSG00000054099
AA Change: I95S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
13 |
129 |
2e-22 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.8%
- 3x: 91.1%
- 10x: 85.6%
- 20x: 73.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele are viable and overtly normal in a battery of physiological, metabolic, and behavioral assays. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
T |
C |
4: 123,754,698 (GRCm39) |
I204T |
probably benign |
Het |
| Acnat2 |
T |
C |
4: 49,383,133 (GRCm39) |
E140G |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,292,522 (GRCm39) |
E413G |
probably damaging |
Het |
| Atg9a |
A |
T |
1: 75,164,597 (GRCm39) |
C122* |
probably null |
Het |
| Birc6 |
T |
C |
17: 74,933,975 (GRCm39) |
Y2544H |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,516,263 (GRCm39) |
T1383I |
probably benign |
Het |
| Cd2ap |
C |
T |
17: 43,163,258 (GRCm39) |
|
probably null |
Het |
| Cdhr1 |
T |
C |
14: 36,804,813 (GRCm39) |
T466A |
probably benign |
Het |
| Cdhr2 |
G |
T |
13: 54,866,255 (GRCm39) |
|
probably null |
Het |
| Eppk1 |
T |
A |
15: 75,990,272 (GRCm39) |
Q2203L |
probably benign |
Het |
| F10 |
T |
C |
8: 13,103,423 (GRCm39) |
L281P |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,545,316 (GRCm39) |
T825A |
probably damaging |
Het |
| Fbxw27 |
T |
C |
9: 109,601,178 (GRCm39) |
E314G |
probably benign |
Het |
| Foxred1 |
T |
C |
9: 35,120,355 (GRCm39) |
E173G |
possibly damaging |
Het |
| Gm4847 |
T |
C |
1: 166,467,587 (GRCm39) |
E203G |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,275,800 (GRCm39) |
R526H |
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,402,960 (GRCm39) |
Y842C |
probably damaging |
Het |
| Hyal4 |
T |
C |
6: 24,755,833 (GRCm39) |
V17A |
probably benign |
Het |
| Igkv4-68 |
T |
C |
6: 69,282,091 (GRCm39) |
T27A |
probably damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,529,464 (GRCm39) |
N2036Y |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,660,091 (GRCm39) |
Y991C |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,456,741 (GRCm39) |
Y841C |
probably damaging |
Het |
| Medag |
A |
G |
5: 149,350,765 (GRCm39) |
Y194C |
probably damaging |
Het |
| Mynn |
C |
T |
3: 30,661,871 (GRCm39) |
R318* |
probably null |
Het |
| Notch1 |
C |
T |
2: 26,356,485 (GRCm39) |
V1711M |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,766,311 (GRCm39) |
|
probably null |
Het |
| Pex7 |
A |
G |
10: 19,770,469 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,796,775 (GRCm39) |
T2417A |
probably damaging |
Het |
| Pknox2 |
A |
G |
9: 36,865,987 (GRCm39) |
|
probably null |
Het |
| Plekha4 |
T |
C |
7: 45,197,503 (GRCm39) |
S522P |
probably damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,092,168 (GRCm39) |
S310R |
probably benign |
Het |
| Rap2a |
A |
G |
14: 120,716,319 (GRCm39) |
T61A |
possibly damaging |
Het |
| Ryr3 |
G |
T |
2: 112,672,221 (GRCm39) |
L1437M |
probably damaging |
Het |
| Srbd1 |
C |
T |
17: 86,449,787 (GRCm39) |
|
probably null |
Het |
| Tox4 |
C |
T |
14: 52,529,260 (GRCm39) |
T407I |
possibly damaging |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,712 (GRCm39) |
I254M |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,580,905 (GRCm39) |
A182V |
probably damaging |
Het |
| Zfp60 |
T |
C |
7: 27,448,126 (GRCm39) |
S265P |
probably damaging |
Het |
|
| Other mutations in Slc25a40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01413:Slc25a40
|
APN |
5 |
8,503,298 (GRCm39) |
makesense |
probably null |
|
|
IGL01418:Slc25a40
|
APN |
5 |
8,503,298 (GRCm39) |
makesense |
probably null |
|
|
IGL02604:Slc25a40
|
APN |
5 |
8,503,219 (GRCm39) |
missense |
probably benign |
|
|
IGL03371:Slc25a40
|
APN |
5 |
8,477,442 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0443:Slc25a40
|
UTSW |
5 |
8,497,348 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1051:Slc25a40
|
UTSW |
5 |
8,480,450 (GRCm39) |
missense |
probably benign |
|
|
R1707:Slc25a40
|
UTSW |
5 |
8,490,793 (GRCm39) |
splice site |
probably null |
|
|
R1861:Slc25a40
|
UTSW |
5 |
8,492,431 (GRCm39) |
splice site |
probably null |
|
|
R2117:Slc25a40
|
UTSW |
5 |
8,480,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2135:Slc25a40
|
UTSW |
5 |
8,477,489 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2567:Slc25a40
|
UTSW |
5 |
8,480,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2908:Slc25a40
|
UTSW |
5 |
8,477,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5140:Slc25a40
|
UTSW |
5 |
8,480,486 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5269:Slc25a40
|
UTSW |
5 |
8,497,409 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6665:Slc25a40
|
UTSW |
5 |
8,502,788 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7884:Slc25a40
|
UTSW |
5 |
8,492,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7996:Slc25a40
|
UTSW |
5 |
8,493,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9100:Slc25a40
|
UTSW |
5 |
8,499,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGTAGTGGAGACTTCAGTGTAAG -3'
(R):5'- TGACACCTGCTGATGAATATGG -3'
Sequencing Primer
(F):5'- GTGGAGACTTCAGTGTAAGAATATTG -3'
(R):5'- CCTGCTGATGAATATGGTCTAACTGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation