Incidental Mutation 'R9409:Slc16a14'
| ID |
711697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc16a14
|
| Ensembl Gene |
ENSMUSG00000026220 |
| Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 14 |
| Synonyms |
1110004H10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R9409 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
84883619-84912855 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 84907116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 53
(Q53*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027422]
[ENSMUST00000186980]
|
| AlphaFold |
Q8K1C7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027422
AA Change: Q53*
|
| SMART Domains |
Protein: ENSMUSP00000027422
Gene: ENSMUSG00000026220
AA Change: Q53*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
42 |
427 |
6.7e-42 |
PFAM |
|
Pfam:MFS_1
|
419 |
509 |
7.9e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000186980
AA Change: Q53*
|
| SMART Domains |
Protein: ENSMUSP00000140314
Gene: ENSMUSG00000026220
AA Change: Q53*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
49 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
T |
8: 73,211,888 (GRCm39) |
I538F |
possibly damaging |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Ccdc138 |
A |
G |
10: 58,374,135 (GRCm39) |
H385R |
probably damaging |
Het |
| Cep43 |
T |
C |
17: 8,411,088 (GRCm39) |
V367A |
probably benign |
Het |
| Cfhr1 |
T |
C |
1: 139,478,704 (GRCm39) |
D222G |
probably benign |
Het |
| Cpb2 |
A |
T |
14: 75,505,522 (GRCm39) |
I173F |
probably damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Ebf2 |
T |
C |
14: 67,472,665 (GRCm39) |
S28P |
probably damaging |
Het |
| Eomes |
A |
T |
9: 118,314,069 (GRCm39) |
T705S |
probably benign |
Het |
| Fbxo15 |
T |
A |
18: 84,977,246 (GRCm39) |
W98R |
possibly damaging |
Het |
| Gm12258 |
T |
C |
11: 58,745,119 (GRCm39) |
F17L |
|
Het |
| Grin2c |
C |
T |
11: 115,144,106 (GRCm39) |
R697H |
probably benign |
Het |
| Ighmbp2 |
C |
A |
19: 3,318,832 (GRCm39) |
A415S |
possibly damaging |
Het |
| Il6st |
C |
G |
13: 112,640,872 (GRCm39) |
Q883E |
probably benign |
Het |
| Med17 |
T |
C |
9: 15,176,695 (GRCm39) |
M511V |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or8b39 |
G |
A |
9: 37,996,584 (GRCm39) |
G151R |
probably damaging |
Het |
| Pacrg |
A |
T |
17: 10,996,065 (GRCm39) |
I67N |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,749,585 (GRCm39) |
S964P |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,160,190 (GRCm39) |
T436A |
probably damaging |
Het |
| Pgap4 |
T |
A |
4: 49,586,043 (GRCm39) |
E375V |
probably damaging |
Het |
| Rag1 |
A |
T |
2: 101,473,192 (GRCm39) |
L650Q |
probably damaging |
Het |
| Rhobtb1 |
A |
T |
10: 69,106,217 (GRCm39) |
T323S |
probably benign |
Het |
| Rhot2 |
T |
C |
17: 26,060,085 (GRCm39) |
T299A |
probably benign |
Het |
| Rnf180 |
CGAGG |
CGAGGAGG |
13: 105,386,781 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
C |
A |
13: 11,695,973 (GRCm39) |
V2965F |
probably damaging |
Het |
| Serpina1b |
A |
T |
12: 103,694,607 (GRCm39) |
M379K |
probably benign |
Het |
| Serpinb9 |
A |
G |
13: 33,192,797 (GRCm39) |
Q118R |
probably benign |
Het |
| Tas2r130 |
T |
A |
6: 131,607,660 (GRCm39) |
D45V |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,339,945 (GRCm39) |
N361D |
probably damaging |
Het |
| Tmtc2 |
G |
T |
10: 105,159,419 (GRCm39) |
L560M |
probably damaging |
Het |
| Trav13-5 |
G |
T |
14: 54,033,277 (GRCm39) |
R62L |
possibly damaging |
Het |
|
| Other mutations in Slc16a14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00942:Slc16a14
|
APN |
1 |
84,900,592 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01563:Slc16a14
|
APN |
1 |
84,889,908 (GRCm39) |
splice site |
probably benign |
|
|
R0315:Slc16a14
|
UTSW |
1 |
84,890,217 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0380:Slc16a14
|
UTSW |
1 |
84,907,251 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1469:Slc16a14
|
UTSW |
1 |
84,907,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Slc16a14
|
UTSW |
1 |
84,907,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:Slc16a14
|
UTSW |
1 |
84,890,120 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2149:Slc16a14
|
UTSW |
1 |
84,885,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2293:Slc16a14
|
UTSW |
1 |
84,890,564 (GRCm39) |
missense |
probably benign |
|
|
R3790:Slc16a14
|
UTSW |
1 |
84,907,001 (GRCm39) |
unclassified |
probably benign |
|
|
R4016:Slc16a14
|
UTSW |
1 |
84,890,228 (GRCm39) |
nonsense |
probably null |
|
|
R4596:Slc16a14
|
UTSW |
1 |
84,907,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4637:Slc16a14
|
UTSW |
1 |
84,885,003 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4723:Slc16a14
|
UTSW |
1 |
84,890,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Slc16a14
|
UTSW |
1 |
84,890,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5262:Slc16a14
|
UTSW |
1 |
84,890,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5410:Slc16a14
|
UTSW |
1 |
84,885,145 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5927:Slc16a14
|
UTSW |
1 |
84,889,988 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5968:Slc16a14
|
UTSW |
1 |
84,890,226 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6052:Slc16a14
|
UTSW |
1 |
84,890,430 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6264:Slc16a14
|
UTSW |
1 |
84,885,130 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6290:Slc16a14
|
UTSW |
1 |
84,885,106 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7383:Slc16a14
|
UTSW |
1 |
84,890,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7390:Slc16a14
|
UTSW |
1 |
84,907,187 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7535:Slc16a14
|
UTSW |
1 |
84,890,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8326:Slc16a14
|
UTSW |
1 |
84,890,066 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8669:Slc16a14
|
UTSW |
1 |
84,900,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8784:Slc16a14
|
UTSW |
1 |
84,890,784 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9469:Slc16a14
|
UTSW |
1 |
84,900,612 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGATGCCACTGATACCC -3'
(R):5'- TTACTGCGTGTGTTTCAGAAAACC -3'
Sequencing Primer
(F):5'- ATGTCTGTCTTACAGCAGGGACC -3'
(R):5'- ACCTTAGAAAATGTATACGAGTCATG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation