Incidental Mutation 'R3934:Slc16a7'
| ID |
306947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc16a7
|
| Ensembl Gene |
ENSMUSG00000020102 |
| Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 7 |
| Synonyms |
4921534N07Rik, 9030411M13Rik, D630004K10Rik, MCT2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R3934 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
125055139-125225334 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 125066712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 309
(R309L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063318]
[ENSMUST00000105257]
[ENSMUST00000210780]
[ENSMUST00000211781]
|
| AlphaFold |
O70451 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063318
AA Change: R309L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000065433
Gene: ENSMUSG00000020102
AA Change: R309L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
22 |
389 |
2e-37 |
PFAM |
|
transmembrane domain
|
404 |
426 |
N/A |
INTRINSIC |
|
coiled coil region
|
436 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105257
AA Change: R309L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000100892
Gene: ENSMUSG00000020102
AA Change: R309L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
22 |
389 |
6e-37 |
PFAM |
|
transmembrane domain
|
404 |
426 |
N/A |
INTRINSIC |
|
coiled coil region
|
436 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210780
AA Change: R309L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211781
AA Change: R309L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.7921 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
T |
A |
12: 18,584,082 (GRCm39) |
Y381N |
possibly damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,405,432 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,623,166 (GRCm39) |
F3819S |
probably benign |
Het |
| Aig1 |
T |
C |
10: 13,677,656 (GRCm39) |
D112G |
probably damaging |
Het |
| Akap6 |
C |
T |
12: 53,187,227 (GRCm39) |
T1547M |
possibly damaging |
Het |
| Alk |
T |
A |
17: 72,512,949 (GRCm39) |
I337F |
probably damaging |
Het |
| C2cd5 |
C |
T |
6: 142,987,106 (GRCm39) |
V499I |
possibly damaging |
Het |
| Capn11 |
A |
T |
17: 45,945,213 (GRCm39) |
|
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,589,933 (GRCm39) |
D221G |
possibly damaging |
Het |
| Enpp2 |
A |
G |
15: 54,709,317 (GRCm39) |
V766A |
probably benign |
Het |
| Fastk |
G |
T |
5: 24,647,257 (GRCm39) |
S317* |
probably null |
Het |
| Fgfr1op2 |
T |
A |
6: 146,496,669 (GRCm39) |
|
probably benign |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,458,164 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,270,496 (GRCm39) |
|
probably null |
Het |
| Hspbp1 |
A |
T |
7: 4,667,594 (GRCm39) |
M271K |
probably benign |
Het |
| Itgb6 |
G |
A |
2: 60,441,755 (GRCm39) |
T685M |
possibly damaging |
Het |
| Itih5 |
G |
A |
2: 10,250,355 (GRCm39) |
V685I |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,130,901 (GRCm39) |
S421G |
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mitf |
C |
T |
6: 97,970,214 (GRCm39) |
P54S |
probably damaging |
Het |
| Perm1 |
A |
G |
4: 156,303,627 (GRCm39) |
T724A |
probably benign |
Het |
| Pex5l |
T |
C |
3: 33,061,321 (GRCm39) |
E176G |
probably damaging |
Het |
| Polk |
A |
T |
13: 96,638,143 (GRCm39) |
M192K |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,526,169 (GRCm39) |
I401V |
probably benign |
Het |
| Prpf38b |
T |
C |
3: 108,811,741 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
T |
C |
5: 17,886,938 (GRCm39) |
S330P |
probably damaging |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,439,174 (GRCm39) |
|
probably benign |
Het |
| Sod3 |
T |
C |
5: 52,525,987 (GRCm39) |
S229P |
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,701,943 (GRCm39) |
V608D |
probably damaging |
Het |
| Spink5 |
G |
T |
18: 44,149,494 (GRCm39) |
K958N |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,678,166 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
T |
A |
1: 187,995,708 (GRCm39) |
|
probably null |
Het |
| Vmn2r19 |
T |
A |
6: 123,292,628 (GRCm39) |
D223E |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,532,462 (GRCm39) |
S87T |
probably damaging |
Het |
| Wdr35 |
G |
T |
12: 9,058,014 (GRCm39) |
G513C |
probably damaging |
Het |
|
| Other mutations in Slc16a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00857:Slc16a7
|
APN |
10 |
125,066,803 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02228:Slc16a7
|
APN |
10 |
125,066,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02500:Slc16a7
|
APN |
10 |
125,066,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03277:Slc16a7
|
APN |
10 |
125,066,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0044:Slc16a7
|
UTSW |
10 |
125,063,951 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0076:Slc16a7
|
UTSW |
10 |
125,063,939 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0285:Slc16a7
|
UTSW |
10 |
125,130,500 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0546:Slc16a7
|
UTSW |
10 |
125,066,742 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0898:Slc16a7
|
UTSW |
10 |
125,069,370 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1123:Slc16a7
|
UTSW |
10 |
125,067,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1173:Slc16a7
|
UTSW |
10 |
125,067,241 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1459:Slc16a7
|
UTSW |
10 |
125,066,489 (GRCm39) |
nonsense |
probably null |
|
|
R1554:Slc16a7
|
UTSW |
10 |
125,066,791 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1838:Slc16a7
|
UTSW |
10 |
125,067,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3545:Slc16a7
|
UTSW |
10 |
125,130,569 (GRCm39) |
nonsense |
probably null |
|
|
R3546:Slc16a7
|
UTSW |
10 |
125,130,569 (GRCm39) |
nonsense |
probably null |
|
|
R3547:Slc16a7
|
UTSW |
10 |
125,130,569 (GRCm39) |
nonsense |
probably null |
|
|
R3935:Slc16a7
|
UTSW |
10 |
125,066,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4499:Slc16a7
|
UTSW |
10 |
125,064,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4512:Slc16a7
|
UTSW |
10 |
125,069,308 (GRCm39) |
splice site |
probably null |
|
|
R4513:Slc16a7
|
UTSW |
10 |
125,069,308 (GRCm39) |
splice site |
probably null |
|
|
R4514:Slc16a7
|
UTSW |
10 |
125,069,308 (GRCm39) |
splice site |
probably null |
|
|
R5157:Slc16a7
|
UTSW |
10 |
125,069,333 (GRCm39) |
nonsense |
probably null |
|
|
R5247:Slc16a7
|
UTSW |
10 |
125,067,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Slc16a7
|
UTSW |
10 |
125,130,473 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6198:Slc16a7
|
UTSW |
10 |
125,064,084 (GRCm39) |
missense |
probably benign |
|
|
R6263:Slc16a7
|
UTSW |
10 |
125,130,508 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6430:Slc16a7
|
UTSW |
10 |
125,066,887 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7450:Slc16a7
|
UTSW |
10 |
125,063,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7680:Slc16a7
|
UTSW |
10 |
125,066,805 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8125:Slc16a7
|
UTSW |
10 |
125,164,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9133:Slc16a7
|
UTSW |
10 |
125,066,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9301:Slc16a7
|
UTSW |
10 |
125,066,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACGATTGTTGTGAGTCCCAC -3'
(R):5'- TTGATCTACCTATCTGGAAACGTC -3'
Sequencing Primer
(F):5'- TGGAGAACCTGGTAGCTCCAAC -3'
(R):5'- CTACCTATCTGGAAACGTCATATTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation