Incidental Mutation 'R5255:Slc16a11'
| ID |
399503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc16a11
|
| Ensembl Gene |
ENSMUSG00000040938 |
| Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 11 |
| Synonyms |
MNCb-2717 |
| MMRRC Submission |
042826-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5255 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70104717-70107239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70106258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 165
(D165E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060010]
[ENSMUST00000094055]
[ENSMUST00000123716]
[ENSMUST00000126296]
[ENSMUST00000126388]
[ENSMUST00000136328]
[ENSMUST00000171032]
[ENSMUST00000159867]
[ENSMUST00000153993]
[ENSMUST00000141290]
[ENSMUST00000190533]
|
| AlphaFold |
Q5NC32 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060010
|
| SMART Domains |
Protein: ENSMUSP00000053218
Gene: ENSMUSG00000044367
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
14 |
277 |
1.7e-22 |
PFAM |
|
Pfam:MFS_1
|
219 |
423 |
6.8e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094055
AA Change: D165E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091597
Gene: ENSMUSG00000040938
AA Change: D165E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
17 |
340 |
5.5e-24 |
PFAM |
|
transmembrane domain
|
343 |
365 |
N/A |
INTRINSIC |
|
transmembrane domain
|
380 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
420 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122852
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123716
|
| SMART Domains |
Protein: ENSMUSP00000114871
Gene: ENSMUSG00000040938
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126296
AA Change: D165E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118381
Gene: ENSMUSG00000040938
AA Change: D165E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
16 |
196 |
2e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126388
AA Change: D165E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116648
Gene: ENSMUSG00000040938
AA Change: D165E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
17 |
340 |
5.5e-24 |
PFAM |
|
transmembrane domain
|
343 |
365 |
N/A |
INTRINSIC |
|
transmembrane domain
|
380 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
420 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131468
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136328
AA Change: D117E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115212
Gene: ENSMUSG00000040938
AA Change: D117E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
66 |
297 |
8.3e-10 |
PFAM |
|
low complexity region
|
306 |
324 |
N/A |
INTRINSIC |
|
transmembrane domain
|
332 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
372 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171032
AA Change: D165E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128419
Gene: ENSMUSG00000040938
AA Change: D165E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
17 |
316 |
1.8e-24 |
PFAM |
|
transmembrane domain
|
343 |
365 |
N/A |
INTRINSIC |
|
transmembrane domain
|
380 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
420 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144494
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159867
|
| SMART Domains |
Protein: ENSMUSP00000124687
Gene: ENSMUSG00000044367
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153993
|
| SMART Domains |
Protein: ENSMUSP00000122586
Gene: ENSMUSG00000040938
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141290
|
| SMART Domains |
Protein: ENSMUSP00000116316
Gene: ENSMUSG00000044367
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190533
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
T |
17: 36,270,629 (GRCm39) |
|
probably null |
Het |
| Abr |
T |
A |
11: 76,346,509 (GRCm39) |
E434V |
probably damaging |
Het |
| Acaca |
T |
A |
11: 84,202,133 (GRCm39) |
L197Q |
probably damaging |
Het |
| Acot10 |
A |
G |
15: 20,666,018 (GRCm39) |
I241T |
probably benign |
Het |
| Acp6 |
T |
C |
3: 97,075,312 (GRCm39) |
V182A |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,739,812 (GRCm39) |
T1420I |
possibly damaging |
Het |
| Akr1c6 |
A |
T |
13: 4,497,018 (GRCm39) |
K153N |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,721,030 (GRCm39) |
L600P |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,624,447 (GRCm39) |
A824T |
probably damaging |
Het |
| B230307C23Rik |
T |
A |
16: 97,809,891 (GRCm39) |
N22K |
possibly damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,648,324 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
G |
A |
1: 189,404,824 (GRCm39) |
T352I |
possibly damaging |
Het |
| Ces4a |
C |
A |
8: 105,869,121 (GRCm39) |
F185L |
probably benign |
Het |
| Clybl |
A |
C |
14: 122,621,691 (GRCm39) |
E293A |
probably benign |
Het |
| Cobl |
A |
G |
11: 12,325,825 (GRCm39) |
W217R |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,086,945 (GRCm39) |
N677S |
probably benign |
Het |
| Ddx51 |
C |
A |
5: 110,803,908 (GRCm39) |
T390N |
possibly damaging |
Het |
| Drd5 |
T |
G |
5: 38,477,310 (GRCm39) |
V101G |
probably damaging |
Het |
| Elmo3 |
C |
T |
8: 106,033,985 (GRCm39) |
P244L |
probably benign |
Het |
| Esrrg |
G |
A |
1: 187,878,555 (GRCm39) |
R189H |
probably damaging |
Het |
| Fxr2 |
A |
G |
11: 69,534,667 (GRCm39) |
T183A |
probably benign |
Het |
| Gjd4 |
T |
C |
18: 9,280,613 (GRCm39) |
H155R |
probably benign |
Het |
| Hivep2 |
T |
A |
10: 14,007,011 (GRCm39) |
|
probably null |
Het |
| Ints10 |
T |
C |
8: 69,246,624 (GRCm39) |
|
probably benign |
Het |
| Kank4 |
T |
C |
4: 98,667,209 (GRCm39) |
T413A |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 119,847,735 (GRCm39) |
V568A |
probably damaging |
Het |
| Mobp |
A |
G |
9: 119,997,419 (GRCm39) |
|
probably benign |
Het |
| Mpst |
A |
G |
15: 78,294,708 (GRCm39) |
S147G |
probably benign |
Het |
| Myo5b |
A |
T |
18: 74,795,741 (GRCm39) |
Y559F |
possibly damaging |
Het |
| Nceh1 |
T |
C |
3: 27,237,288 (GRCm39) |
I21T |
probably damaging |
Het |
| Or4f7 |
T |
C |
2: 111,644,523 (GRCm39) |
K183E |
probably benign |
Het |
| Phf8-ps |
A |
T |
17: 33,285,739 (GRCm39) |
C354* |
probably null |
Het |
| Ralgps1 |
A |
T |
2: 33,166,171 (GRCm39) |
V126E |
probably damaging |
Het |
| Rnls |
A |
G |
19: 33,359,823 (GRCm39) |
V115A |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,108,013 (GRCm39) |
V1554D |
probably damaging |
Het |
| Slc16a5 |
A |
G |
11: 115,353,501 (GRCm39) |
T23A |
probably benign |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc3a1 |
A |
T |
17: 85,335,881 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
A |
T |
14: 110,987,185 (GRCm39) |
*841K |
probably null |
Het |
| Syngr1 |
A |
G |
15: 79,975,647 (GRCm39) |
Y18C |
possibly damaging |
Het |
| Tarbp1 |
T |
G |
8: 127,155,709 (GRCm39) |
D1343A |
probably benign |
Het |
| Vac14 |
T |
A |
8: 111,360,961 (GRCm39) |
I177N |
probably damaging |
Het |
| Vmn1r218 |
A |
T |
13: 23,320,881 (GRCm39) |
D76V |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,838,277 (GRCm39) |
I62N |
probably damaging |
Het |
| Zfp12 |
A |
T |
5: 143,226,134 (GRCm39) |
I68L |
probably null |
Het |
| Zswim8 |
T |
A |
14: 20,771,719 (GRCm39) |
Y1551N |
probably damaging |
Het |
|
| Other mutations in Slc16a11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02678:Slc16a11
|
APN |
11 |
70,106,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
shanxi
|
UTSW |
11 |
70,106,477 (GRCm39) |
nonsense |
probably null |
|
|
taihang
|
UTSW |
11 |
70,106,560 (GRCm39) |
splice site |
probably null |
|
|
R0619:Slc16a11
|
UTSW |
11 |
70,105,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Slc16a11
|
UTSW |
11 |
70,106,477 (GRCm39) |
nonsense |
probably null |
|
|
R2110:Slc16a11
|
UTSW |
11 |
70,106,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4408:Slc16a11
|
UTSW |
11 |
70,106,560 (GRCm39) |
splice site |
probably null |
|
|
R4633:Slc16a11
|
UTSW |
11 |
70,107,205 (GRCm39) |
splice site |
probably null |
|
|
R5544:Slc16a11
|
UTSW |
11 |
70,105,826 (GRCm39) |
splice site |
probably null |
|
|
R5901:Slc16a11
|
UTSW |
11 |
70,107,172 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6116:Slc16a11
|
UTSW |
11 |
70,106,262 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6993:Slc16a11
|
UTSW |
11 |
70,106,842 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7658:Slc16a11
|
UTSW |
11 |
70,106,143 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9043:Slc16a11
|
UTSW |
11 |
70,106,520 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCTATCCATTTGCAGGC -3'
(R):5'- GATCTAAAGCATGCGGACCC -3'
Sequencing Primer
(F):5'- ATCCATTTGCAGGCTCTGG -3'
(R):5'- TCTAAAGCATGCGGACCCAAATG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation