Incidental Mutation 'IGL00230:Slc22a29'
| ID |
2057 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc22a29
|
| Ensembl Gene |
ENSMUSG00000075044 |
| Gene Name |
solute carrier family 22. member 29 |
| Synonyms |
D630002G06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00230
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
8160165-8218900 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8217813 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 153
(M153V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113298]
[ENSMUST00000222533]
|
| AlphaFold |
Q8BWG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113298
AA Change: M153V
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108923
Gene: ENSMUSG00000075044
AA Change: M153V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
99 |
528 |
1.3e-25 |
PFAM |
|
Pfam:MFS_1
|
140 |
372 |
7.7e-14 |
PFAM |
|
Pfam:MFS_1
|
348 |
549 |
6.5e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140910
|
| SMART Domains |
Protein: ENSMUSP00000117625
Gene: ENSMUSG00000075044
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
98 |
454 |
4.6e-20 |
PFAM |
|
Pfam:MFS_1
|
137 |
462 |
3.6e-15 |
PFAM |
|
low complexity region
|
467 |
481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149182
|
| SMART Domains |
Protein: ENSMUSP00000122262
Gene: ENSMUSG00000075044
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
62 |
418 |
2.2e-20 |
PFAM |
|
Pfam:MFS_1
|
101 |
427 |
1.9e-15 |
PFAM |
|
low complexity region
|
431 |
445 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222533
AA Change: M153V
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bin1 |
C |
T |
18: 32,420,107 (GRCm38) |
A215V |
probably damaging |
Het |
| Cyp2j6 |
C |
T |
4: 96,536,046 (GRCm38) |
R158H |
possibly damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,196,766 (GRCm38) |
D507G |
probably benign |
Het |
| Fam13b |
T |
C |
18: 34,487,096 (GRCm38) |
E245G |
possibly damaging |
Het |
| Gal3st1 |
A |
T |
11: 3,999,070 (GRCm38) |
|
probably benign |
Het |
| Galnt5 |
A |
T |
2: 57,998,973 (GRCm38) |
Q195L |
probably benign |
Het |
| Gfm2 |
A |
G |
13: 97,155,442 (GRCm38) |
T229A |
probably benign |
Het |
| Gigyf1 |
A |
G |
5: 137,522,745 (GRCm38) |
|
probably benign |
Het |
| Gm4353 |
G |
T |
7: 116,083,554 (GRCm38) |
T264K |
probably damaging |
Het |
| Gsk3b |
A |
T |
16: 38,228,707 (GRCm38) |
I389F |
probably benign |
Het |
| Hist1h2bm |
G |
T |
13: 21,722,375 (GRCm38) |
R93L |
possibly damaging |
Het |
| Htt |
A |
G |
5: 34,799,408 (GRCm38) |
T194A |
probably benign |
Het |
| Ighg3 |
T |
C |
12: 113,359,837 (GRCm38) |
Y273C |
unknown |
Het |
| Kdm5b |
T |
A |
1: 134,620,955 (GRCm38) |
V1066D |
probably damaging |
Het |
| Kif1a |
G |
T |
1: 93,054,934 (GRCm38) |
A707E |
probably damaging |
Het |
| Maats1 |
A |
G |
16: 38,336,342 (GRCm38) |
|
probably null |
Het |
| Mars |
A |
G |
10: 127,298,006 (GRCm38) |
M674T |
probably benign |
Het |
| Mas1 |
T |
C |
17: 12,841,990 (GRCm38) |
D182G |
probably benign |
Het |
| Metap1d |
T |
A |
2: 71,512,162 (GRCm38) |
D178E |
probably damaging |
Het |
| Nhsl1 |
T |
A |
10: 18,527,609 (GRCm38) |
D1329E |
probably benign |
Het |
| Ninl |
T |
C |
2: 150,966,241 (GRCm38) |
E289G |
probably damaging |
Het |
| Pmel |
G |
T |
10: 128,716,089 (GRCm38) |
G264V |
possibly damaging |
Het |
| Ruvbl1 |
T |
C |
6: 88,484,403 (GRCm38) |
|
probably benign |
Het |
| Scn8a |
T |
A |
15: 100,955,532 (GRCm38) |
|
probably benign |
Het |
| Sept9 |
T |
C |
11: 117,354,804 (GRCm38) |
|
probably benign |
Het |
| Sgpp1 |
G |
T |
12: 75,716,194 (GRCm38) |
Y404* |
probably null |
Het |
| Sgsm1 |
T |
C |
5: 113,245,064 (GRCm38) |
I788V |
probably benign |
Het |
| Slc13a4 |
A |
T |
6: 35,289,824 (GRCm38) |
M112K |
probably benign |
Het |
| Slc9c1 |
T |
G |
16: 45,573,389 (GRCm38) |
V565G |
possibly damaging |
Het |
| Sox4 |
C |
A |
13: 28,952,973 (GRCm38) |
G17W |
probably damaging |
Het |
| Tec |
C |
T |
5: 72,768,768 (GRCm38) |
A314T |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,827,290 (GRCm38) |
I803V |
probably benign |
Het |
| Trav9-1 |
A |
T |
14: 53,488,393 (GRCm38) |
I55F |
probably benign |
Het |
| Ttll12 |
C |
A |
15: 83,578,656 (GRCm38) |
E536D |
probably benign |
Het |
| Ubqln1 |
C |
A |
13: 58,177,992 (GRCm38) |
E152* |
probably null |
Het |
| Wwtr1 |
G |
A |
3: 57,463,491 (GRCm38) |
T338I |
probably benign |
Het |
| Zdhhc16 |
T |
C |
19: 41,939,660 (GRCm38) |
F206S |
probably benign |
Het |
|
| Other mutations in Slc22a29 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00562:Slc22a29
|
APN |
19 |
8,161,629 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL00563:Slc22a29
|
APN |
19 |
8,161,629 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL00952:Slc22a29
|
APN |
19 |
8,217,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01526:Slc22a29
|
APN |
19 |
8,207,178 (GRCm38) |
splice site |
probably benign |
|
|
IGL01792:Slc22a29
|
APN |
19 |
8,218,529 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02191:Slc22a29
|
APN |
19 |
8,218,681 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02391:Slc22a29
|
APN |
19 |
8,169,353 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL02408:Slc22a29
|
APN |
19 |
8,207,285 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02957:Slc22a29
|
APN |
19 |
8,169,990 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03059:Slc22a29
|
APN |
19 |
8,169,990 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03299:Slc22a29
|
APN |
19 |
8,162,648 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03368:Slc22a29
|
APN |
19 |
8,207,262 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0017:Slc22a29
|
UTSW |
19 |
8,218,266 (GRCm38) |
splice site |
probably benign |
|
|
R0105:Slc22a29
|
UTSW |
19 |
8,160,627 (GRCm38) |
unclassified |
probably benign |
|
|
R0157:Slc22a29
|
UTSW |
19 |
8,162,742 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R0265:Slc22a29
|
UTSW |
19 |
8,169,970 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1758:Slc22a29
|
UTSW |
19 |
8,217,762 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1918:Slc22a29
|
UTSW |
19 |
8,217,759 (GRCm38) |
splice site |
probably null |
|
|
R1927:Slc22a29
|
UTSW |
19 |
8,207,066 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1959:Slc22a29
|
UTSW |
19 |
8,169,193 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1960:Slc22a29
|
UTSW |
19 |
8,169,193 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1961:Slc22a29
|
UTSW |
19 |
8,169,193 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1966:Slc22a29
|
UTSW |
19 |
8,218,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1968:Slc22a29
|
UTSW |
19 |
8,218,343 (GRCm38) |
missense |
probably benign |
0.27 |
|
R1997:Slc22a29
|
UTSW |
19 |
8,217,798 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3105:Slc22a29
|
UTSW |
19 |
8,169,973 (GRCm38) |
missense |
probably benign |
0.25 |
|
R3725:Slc22a29
|
UTSW |
19 |
8,218,609 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R4118:Slc22a29
|
UTSW |
19 |
8,160,529 (GRCm38) |
unclassified |
probably benign |
|
|
R4465:Slc22a29
|
UTSW |
19 |
8,162,724 (GRCm38) |
nonsense |
probably null |
|
|
R4584:Slc22a29
|
UTSW |
19 |
8,169,291 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4656:Slc22a29
|
UTSW |
19 |
8,218,300 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4679:Slc22a29
|
UTSW |
19 |
8,161,584 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R4899:Slc22a29
|
UTSW |
19 |
8,161,569 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4913:Slc22a29
|
UTSW |
19 |
8,218,358 (GRCm38) |
missense |
probably benign |
0.17 |
|
R5119:Slc22a29
|
UTSW |
19 |
8,217,830 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5470:Slc22a29
|
UTSW |
19 |
8,161,516 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5474:Slc22a29
|
UTSW |
19 |
8,217,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6794:Slc22a29
|
UTSW |
19 |
8,161,523 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6798:Slc22a29
|
UTSW |
19 |
8,160,604 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7025:Slc22a29
|
UTSW |
19 |
8,160,580 (GRCm38) |
missense |
probably benign |
|
|
R7240:Slc22a29
|
UTSW |
19 |
8,161,511 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7535:Slc22a29
|
UTSW |
19 |
8,169,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7846:Slc22a29
|
UTSW |
19 |
8,193,487 (GRCm38) |
missense |
probably benign |
0.39 |
|
R8169:Slc22a29
|
UTSW |
19 |
8,207,332 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8275:Slc22a29
|
UTSW |
19 |
8,169,317 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8403:Slc22a29
|
UTSW |
19 |
8,161,640 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8872:Slc22a29
|
UTSW |
19 |
8,160,567 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9129:Slc22a29
|
UTSW |
19 |
8,169,305 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9381:Slc22a29
|
UTSW |
19 |
8,218,477 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9550:Slc22a29
|
UTSW |
19 |
8,217,860 (GRCm38) |
nonsense |
probably null |
|
|
R9645:Slc22a29
|
UTSW |
19 |
8,207,124 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9673:Slc22a29
|
UTSW |
19 |
8,162,740 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Posted On |
2011-12-09 |
Incidental Mutation