Incidental Mutation 'R8713:Slc16a4'
| ID |
669696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc16a4
|
| Ensembl Gene |
ENSMUSG00000027896 |
| Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 4 |
| Synonyms |
|
| MMRRC Submission |
068567-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8713 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107198546-107219431 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 107218901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glutamine
at position 501
(*501Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029502]
[ENSMUST00000106723]
|
| AlphaFold |
Q8R0M8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029502
AA Change: *501Q
|
| SMART Domains |
Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: *501Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
27 |
373 |
8.2e-26 |
PFAM |
|
Pfam:MFS_1
|
305 |
499 |
2e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106723
|
| SMART Domains |
Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
27 |
375 |
2.1e-28 |
PFAM |
|
Pfam:MFS_1
|
327 |
462 |
3.6e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
T |
5: 36,030,518 (GRCm39) |
A581V |
possibly damaging |
Het |
| Adam18 |
T |
A |
8: 25,142,189 (GRCm39) |
M196L |
probably benign |
Het |
| Ankrd10 |
A |
G |
8: 11,678,491 (GRCm39) |
S134P |
probably damaging |
Het |
| Ano8 |
C |
T |
8: 71,937,721 (GRCm39) |
G47D |
probably damaging |
Het |
| Arl6ip4 |
T |
C |
5: 124,254,825 (GRCm39) |
V4A |
unknown |
Het |
| Cabp4 |
C |
T |
19: 4,186,159 (GRCm39) |
M247I |
probably benign |
Het |
| Ccdc30 |
A |
T |
4: 119,261,404 (GRCm39) |
L11Q |
probably damaging |
Het |
| Cdkl4 |
A |
G |
17: 80,841,292 (GRCm39) |
S288P |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,707,062 (GRCm39) |
I1182V |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,979,028 (GRCm39) |
D1788G |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,352,701 (GRCm39) |
D193G |
probably damaging |
Het |
| Dym |
T |
G |
18: 75,189,809 (GRCm39) |
Y132* |
probably null |
Het |
| Dync2h1 |
G |
A |
9: 7,141,008 (GRCm39) |
Q1340* |
probably null |
Het |
| Elmo1 |
T |
C |
13: 20,458,791 (GRCm39) |
|
probably benign |
Het |
| Fbxw15 |
A |
C |
9: 109,384,667 (GRCm39) |
F378V |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,811,453 (GRCm39) |
G2591R |
probably damaging |
Het |
| Gps2 |
C |
A |
11: 69,806,180 (GRCm39) |
D148E |
probably benign |
Het |
| Iars2 |
T |
C |
1: 185,023,615 (GRCm39) |
D772G |
possibly damaging |
Het |
| Ifit1 |
T |
A |
19: 34,625,038 (GRCm39) |
L58Q |
probably benign |
Het |
| Kctd4 |
A |
T |
14: 76,200,366 (GRCm39) |
Q112H |
probably benign |
Het |
| Letm1 |
A |
G |
5: 33,919,849 (GRCm39) |
L230P |
probably damaging |
Het |
| Lrch4 |
G |
T |
5: 137,638,125 (GRCm39) |
E136* |
probably null |
Het |
| Macc1 |
T |
C |
12: 119,407,261 (GRCm39) |
|
probably benign |
Het |
| Macrod1 |
T |
C |
19: 7,034,494 (GRCm39) |
L79P |
probably benign |
Het |
| Map2 |
T |
A |
1: 66,453,781 (GRCm39) |
N890K |
probably damaging |
Het |
| Mctp1 |
G |
A |
13: 76,789,922 (GRCm39) |
S270N |
probably benign |
Het |
| Mrpl44 |
C |
T |
1: 79,755,708 (GRCm39) |
R105C |
probably damaging |
Het |
| Mtg1 |
T |
A |
7: 139,717,688 (GRCm39) |
|
probably null |
Het |
| Mtg1 |
T |
C |
7: 139,720,136 (GRCm39) |
F68L |
probably benign |
Het |
| Nfil3 |
A |
G |
13: 53,122,047 (GRCm39) |
S286P |
possibly damaging |
Het |
| Nutm1 |
A |
G |
2: 112,081,667 (GRCm39) |
V332A |
possibly damaging |
Het |
| Obscn |
T |
A |
11: 59,026,792 (GRCm39) |
Q137L |
probably benign |
Het |
| Pcnx2 |
T |
G |
8: 126,545,525 (GRCm39) |
E1162A |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,900,818 (GRCm39) |
D117G |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,513,345 (GRCm39) |
C215R |
probably benign |
Het |
| Rrm1 |
T |
G |
7: 102,109,558 (GRCm39) |
Y461D |
probably damaging |
Het |
| Sbk3 |
C |
T |
7: 4,972,991 (GRCm39) |
V60I |
possibly damaging |
Het |
| Scube1 |
G |
T |
15: 83,494,471 (GRCm39) |
A852E |
possibly damaging |
Het |
| Sec24d |
T |
A |
3: 123,137,541 (GRCm39) |
I561N |
probably damaging |
Het |
| Slc6a19 |
C |
A |
13: 73,848,740 (GRCm39) |
V5L |
probably benign |
Het |
| Spryd3 |
A |
G |
15: 102,041,920 (GRCm39) |
I34T |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,266,040 (GRCm39) |
L2191P |
probably damaging |
Het |
| Tbrg1 |
A |
G |
9: 37,563,955 (GRCm39) |
C227R |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,935,910 (GRCm39) |
S1713P |
probably benign |
Het |
| Thap12 |
C |
T |
7: 98,356,283 (GRCm39) |
L57F |
probably benign |
Het |
| Top1 |
G |
A |
2: 160,559,360 (GRCm39) |
V628I |
probably damaging |
Het |
| Trim67 |
A |
G |
8: 125,547,074 (GRCm39) |
M495V |
probably null |
Het |
| Trio |
A |
C |
15: 27,744,037 (GRCm39) |
|
probably benign |
Het |
| Vmn2r23 |
A |
T |
6: 123,679,991 (GRCm39) |
Y71F |
|
Het |
| Ywhah |
A |
G |
5: 33,184,535 (GRCm39) |
N246S |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,797,794 (GRCm39) |
I125T |
probably benign |
Het |
|
| Other mutations in Slc16a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01065:Slc16a4
|
APN |
3 |
107,210,416 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01311:Slc16a4
|
APN |
3 |
107,199,821 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01509:Slc16a4
|
APN |
3 |
107,218,750 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01780:Slc16a4
|
APN |
3 |
107,210,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02294:Slc16a4
|
APN |
3 |
107,208,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02350:Slc16a4
|
APN |
3 |
107,210,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02357:Slc16a4
|
APN |
3 |
107,210,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02792:Slc16a4
|
APN |
3 |
107,206,193 (GRCm39) |
missense |
probably benign |
|
|
IGL02873:Slc16a4
|
APN |
3 |
107,208,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03001:Slc16a4
|
APN |
3 |
107,218,858 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03002:Slc16a4
|
APN |
3 |
107,208,102 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0370:Slc16a4
|
UTSW |
3 |
107,208,413 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0525:Slc16a4
|
UTSW |
3 |
107,205,255 (GRCm39) |
splice site |
probably benign |
|
|
R1192:Slc16a4
|
UTSW |
3 |
107,206,189 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1458:Slc16a4
|
UTSW |
3 |
107,208,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1939:Slc16a4
|
UTSW |
3 |
107,208,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2061:Slc16a4
|
UTSW |
3 |
107,208,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2098:Slc16a4
|
UTSW |
3 |
107,208,163 (GRCm39) |
nonsense |
probably null |
|
|
R2102:Slc16a4
|
UTSW |
3 |
107,211,819 (GRCm39) |
splice site |
probably null |
|
|
R3411:Slc16a4
|
UTSW |
3 |
107,208,188 (GRCm39) |
missense |
probably benign |
|
|
R4983:Slc16a4
|
UTSW |
3 |
107,208,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5394:Slc16a4
|
UTSW |
3 |
107,199,758 (GRCm39) |
missense |
probably benign |
|
|
R5804:Slc16a4
|
UTSW |
3 |
107,206,280 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6077:Slc16a4
|
UTSW |
3 |
107,208,381 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6626:Slc16a4
|
UTSW |
3 |
107,208,512 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6693:Slc16a4
|
UTSW |
3 |
107,210,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6811:Slc16a4
|
UTSW |
3 |
107,206,233 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6823:Slc16a4
|
UTSW |
3 |
107,218,814 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6982:Slc16a4
|
UTSW |
3 |
107,206,589 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7050:Slc16a4
|
UTSW |
3 |
107,208,148 (GRCm39) |
missense |
probably benign |
|
|
R7103:Slc16a4
|
UTSW |
3 |
107,218,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7608:Slc16a4
|
UTSW |
3 |
107,210,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7623:Slc16a4
|
UTSW |
3 |
107,205,297 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8013:Slc16a4
|
UTSW |
3 |
107,218,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8014:Slc16a4
|
UTSW |
3 |
107,218,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Slc16a4
|
UTSW |
3 |
107,208,101 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9266:Slc16a4
|
UTSW |
3 |
107,199,788 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9661:Slc16a4
|
UTSW |
3 |
107,213,359 (GRCm39) |
missense |
probably benign |
|
|
X0018:Slc16a4
|
UTSW |
3 |
107,208,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAATCATTCCTACCTTGCAGG -3'
(R):5'- AGTAAAGGAGCTGCTTCAATGGATTC -3'
Sequencing Primer
(F):5'- CCTACCTTGCAGGCTGGATATATG -3'
(R):5'- CTTCAATGGATTCAGTTTGTAGCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation