Incidental Mutation 'R2216:Slc5a6'
ID |
241144 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc5a6
|
Ensembl Gene |
ENSMUSG00000006641 |
Gene Name |
solute carrier family 5 (sodium-dependent vitamin transporter), member 6 |
Synonyms |
|
MMRRC Submission |
040218-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2216 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
31193380-31206268 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 31196679 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 391
(E391D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143993
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080431]
[ENSMUST00000114668]
[ENSMUST00000200816]
[ENSMUST00000202520]
[ENSMUST00000202556]
[ENSMUST00000202984]
|
AlphaFold |
Q5U4D8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080431
AA Change: E391D
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000079291 Gene: ENSMUSG00000006641 AA Change: E391D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
Pfam:SSF
|
58 |
462 |
7.9e-41 |
PFAM |
low complexity region
|
496 |
506 |
N/A |
INTRINSIC |
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
low complexity region
|
562 |
573 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114668
AA Change: E391D
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000110316 Gene: ENSMUSG00000006641 AA Change: E391D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
Pfam:SSF
|
58 |
462 |
7.9e-41 |
PFAM |
low complexity region
|
496 |
506 |
N/A |
INTRINSIC |
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
low complexity region
|
562 |
573 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200816
|
SMART Domains |
Protein: ENSMUSP00000144665 Gene: ENSMUSG00000006641
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201017
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202520
AA Change: E391D
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143938 Gene: ENSMUSG00000006641 AA Change: E391D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
Pfam:SSF
|
58 |
462 |
7.9e-41 |
PFAM |
low complexity region
|
496 |
506 |
N/A |
INTRINSIC |
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
low complexity region
|
562 |
573 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202556
AA Change: E391D
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143993 Gene: ENSMUSG00000006641 AA Change: E391D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
Pfam:SSF
|
58 |
462 |
7.9e-41 |
PFAM |
low complexity region
|
496 |
506 |
N/A |
INTRINSIC |
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
low complexity region
|
562 |
573 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202984
|
SMART Domains |
Protein: ENSMUSP00000144349 Gene: ENSMUSG00000006641
Domain | Start | End | E-Value | Type |
Pfam:SSF
|
2 |
104 |
6.3e-15 |
PFAM |
transmembrane domain
|
158 |
180 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aipl1 |
G |
T |
11: 71,922,272 (GRCm39) |
P146T |
probably damaging |
Het |
Arnt2 |
T |
A |
7: 83,924,559 (GRCm39) |
T423S |
probably damaging |
Het |
Bend5 |
A |
G |
4: 111,305,787 (GRCm39) |
N277S |
probably null |
Het |
Cd22 |
G |
T |
7: 30,566,471 (GRCm39) |
T816N |
probably damaging |
Het |
Cep126 |
G |
A |
9: 8,120,679 (GRCm39) |
R115C |
probably damaging |
Het |
Cep85 |
T |
C |
4: 133,858,741 (GRCm39) |
H710R |
possibly damaging |
Het |
Cmya5 |
A |
T |
13: 93,230,003 (GRCm39) |
L1695H |
probably damaging |
Het |
Col24a1 |
T |
C |
3: 145,020,742 (GRCm39) |
V371A |
probably benign |
Het |
Csmd1 |
T |
A |
8: 17,077,355 (GRCm39) |
|
probably null |
Het |
Cyp1a1 |
T |
A |
9: 57,609,352 (GRCm39) |
|
probably null |
Het |
Dennd1c |
C |
T |
17: 57,381,492 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
G |
A |
18: 50,026,990 (GRCm39) |
V2033I |
probably benign |
Het |
Dtna |
A |
G |
18: 23,702,622 (GRCm39) |
H51R |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,184,227 (GRCm39) |
|
probably null |
Het |
Gcn1 |
T |
A |
5: 115,731,720 (GRCm39) |
V945E |
probably benign |
Het |
Gpbar1 |
C |
G |
1: 74,318,053 (GRCm39) |
L99V |
probably damaging |
Het |
Hdac9 |
A |
T |
12: 34,479,516 (GRCm39) |
D212E |
probably damaging |
Het |
Itga1 |
A |
T |
13: 115,133,565 (GRCm39) |
D448E |
probably benign |
Het |
Itga2b |
T |
A |
11: 102,358,692 (GRCm39) |
N75I |
probably benign |
Het |
Klra7 |
T |
C |
6: 130,205,549 (GRCm39) |
E117G |
probably benign |
Het |
Kmt2b |
G |
A |
7: 30,273,490 (GRCm39) |
R2349C |
probably benign |
Het |
Masp1 |
T |
C |
16: 23,310,805 (GRCm39) |
N209S |
probably benign |
Het |
Mybpc2 |
C |
T |
7: 44,161,924 (GRCm39) |
|
probably null |
Het |
Myh15 |
C |
G |
16: 48,986,201 (GRCm39) |
S1557* |
probably null |
Het |
Myo3a |
A |
C |
2: 22,467,783 (GRCm39) |
T346P |
probably benign |
Het |
Nim1k |
A |
G |
13: 120,175,751 (GRCm39) |
Y152H |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,802,077 (GRCm39) |
R507* |
probably null |
Het |
Or13n4 |
T |
A |
7: 106,423,205 (GRCm39) |
H176L |
probably damaging |
Het |
Or5e1 |
C |
T |
7: 108,354,819 (GRCm39) |
T252M |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,677,575 (GRCm39) |
I798V |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,614,816 (GRCm39) |
A212T |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,437,291 (GRCm39) |
H3522L |
probably damaging |
Het |
Pram1 |
C |
T |
17: 33,860,258 (GRCm39) |
A275V |
probably benign |
Het |
Pramel18 |
T |
A |
4: 101,767,257 (GRCm39) |
W169R |
probably damaging |
Het |
Prkag1 |
A |
T |
15: 98,713,827 (GRCm39) |
M1K |
probably null |
Het |
Prss52 |
T |
C |
14: 64,351,042 (GRCm39) |
S276P |
probably damaging |
Het |
Ranbp17 |
A |
T |
11: 33,431,125 (GRCm39) |
V284D |
probably damaging |
Het |
Reln |
T |
C |
5: 22,253,003 (GRCm39) |
D648G |
probably benign |
Het |
Rnf112 |
A |
G |
11: 61,343,105 (GRCm39) |
L190P |
probably damaging |
Het |
Scn5a |
G |
T |
9: 119,314,678 (GRCm39) |
P2010Q |
probably benign |
Het |
Scn5a |
T |
C |
9: 119,342,151 (GRCm39) |
Y1138C |
probably benign |
Het |
Slc4a9 |
A |
G |
18: 36,663,798 (GRCm39) |
H274R |
probably benign |
Het |
Speer2 |
T |
C |
16: 69,655,730 (GRCm39) |
Q32R |
possibly damaging |
Het |
Tars1 |
A |
G |
15: 11,389,794 (GRCm39) |
V372A |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,337,267 (GRCm39) |
L1250Q |
possibly damaging |
Het |
Tnnt3 |
A |
G |
7: 142,066,301 (GRCm39) |
Y222C |
probably benign |
Het |
Trim40 |
T |
C |
17: 37,199,875 (GRCm39) |
I68V |
probably benign |
Het |
Trp53tg5 |
T |
C |
2: 164,313,226 (GRCm39) |
I150V |
probably benign |
Het |
Ube2u |
T |
C |
4: 100,389,365 (GRCm39) |
V109A |
probably benign |
Het |
Usp54 |
A |
T |
14: 20,611,908 (GRCm39) |
D969E |
probably benign |
Het |
Vil1 |
G |
T |
1: 74,464,838 (GRCm39) |
R495L |
probably benign |
Het |
Wfs1 |
T |
A |
5: 37,124,564 (GRCm39) |
K700* |
probably null |
Het |
Zcchc8 |
A |
G |
5: 123,845,466 (GRCm39) |
L298P |
probably damaging |
Het |
Zfp946 |
A |
T |
17: 22,673,697 (GRCm39) |
Q150H |
possibly damaging |
Het |
|
Other mutations in Slc5a6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00957:Slc5a6
|
APN |
5 |
31,196,279 (GRCm39) |
unclassified |
probably benign |
|
IGL02305:Slc5a6
|
APN |
5 |
31,195,179 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02457:Slc5a6
|
APN |
5 |
31,198,002 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02691:Slc5a6
|
APN |
5 |
31,199,518 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02737:Slc5a6
|
APN |
5 |
31,194,511 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03277:Slc5a6
|
APN |
5 |
31,195,372 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03389:Slc5a6
|
APN |
5 |
31,194,821 (GRCm39) |
missense |
probably damaging |
1.00 |
Burke
|
UTSW |
5 |
31,194,228 (GRCm39) |
nonsense |
probably null |
|
whig
|
UTSW |
5 |
31,194,155 (GRCm39) |
missense |
probably damaging |
1.00 |
F5770:Slc5a6
|
UTSW |
5 |
31,199,957 (GRCm39) |
splice site |
probably null |
|
R1177:Slc5a6
|
UTSW |
5 |
31,196,646 (GRCm39) |
critical splice donor site |
probably null |
|
R1505:Slc5a6
|
UTSW |
5 |
31,194,455 (GRCm39) |
missense |
probably benign |
0.00 |
R1680:Slc5a6
|
UTSW |
5 |
31,199,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R1800:Slc5a6
|
UTSW |
5 |
31,198,020 (GRCm39) |
nonsense |
probably null |
|
R1881:Slc5a6
|
UTSW |
5 |
31,194,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R3803:Slc5a6
|
UTSW |
5 |
31,200,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R4250:Slc5a6
|
UTSW |
5 |
31,195,062 (GRCm39) |
missense |
probably benign |
0.00 |
R4765:Slc5a6
|
UTSW |
5 |
31,195,427 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4821:Slc5a6
|
UTSW |
5 |
31,194,228 (GRCm39) |
nonsense |
probably null |
|
R5187:Slc5a6
|
UTSW |
5 |
31,200,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R5536:Slc5a6
|
UTSW |
5 |
31,200,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R5554:Slc5a6
|
UTSW |
5 |
31,195,444 (GRCm39) |
missense |
probably damaging |
0.98 |
R5806:Slc5a6
|
UTSW |
5 |
31,198,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Slc5a6
|
UTSW |
5 |
31,206,168 (GRCm39) |
unclassified |
probably benign |
|
R6035:Slc5a6
|
UTSW |
5 |
31,206,168 (GRCm39) |
unclassified |
probably benign |
|
R6615:Slc5a6
|
UTSW |
5 |
31,194,174 (GRCm39) |
missense |
probably benign |
|
R6621:Slc5a6
|
UTSW |
5 |
31,198,122 (GRCm39) |
missense |
probably damaging |
0.98 |
R6983:Slc5a6
|
UTSW |
5 |
31,197,749 (GRCm39) |
missense |
probably benign |
|
R7989:Slc5a6
|
UTSW |
5 |
31,199,480 (GRCm39) |
critical splice donor site |
probably null |
|
R8433:Slc5a6
|
UTSW |
5 |
31,194,806 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9180:Slc5a6
|
UTSW |
5 |
31,195,190 (GRCm39) |
missense |
probably damaging |
0.97 |
R9390:Slc5a6
|
UTSW |
5 |
31,197,803 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9628:Slc5a6
|
UTSW |
5 |
31,197,746 (GRCm39) |
missense |
probably benign |
0.00 |
V7581:Slc5a6
|
UTSW |
5 |
31,199,957 (GRCm39) |
splice site |
probably null |
|
X0022:Slc5a6
|
UTSW |
5 |
31,200,682 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
Z1176:Slc5a6
|
UTSW |
5 |
31,195,369 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGCAAGCAATACACGATGG -3'
(R):5'- CTTTCATCAGAAAAGGCTTGCC -3'
Sequencing Primer
(F):5'- TACACGATGGGGTGAAGGCTG -3'
(R):5'- TGCCTTCAAACCTCTGGGG -3'
|
Posted On |
2014-10-15 |