Incidental Mutation 'IGL03368:Slc22a29'
| ID |
420199 |
| 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 # |
IGL03368
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
8137529-8196264 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 8184626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113298]
[ENSMUST00000222533]
|
| AlphaFold |
Q8BWG6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000113298
|
| SMART Domains |
Protein: ENSMUSP00000108923
Gene: ENSMUSG00000075044
| 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 null
Transcript: ENSMUST00000222533
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530053G22Rik |
T |
C |
6: 60,380,530 (GRCm39) |
|
noncoding transcript |
Het |
| Abca5 |
A |
G |
11: 110,204,348 (GRCm39) |
|
probably benign |
Het |
| Agxt2 |
T |
A |
15: 10,388,256 (GRCm39) |
C278* |
probably null |
Het |
| Ankar |
A |
G |
1: 72,714,972 (GRCm39) |
L384P |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,455,090 (GRCm39) |
|
probably benign |
Het |
| Ap5m1 |
A |
G |
14: 49,318,593 (GRCm39) |
|
probably benign |
Het |
| Arhgap18 |
C |
T |
10: 26,648,689 (GRCm39) |
S37F |
possibly damaging |
Het |
| Btnl10 |
G |
A |
11: 58,810,212 (GRCm39) |
V118I |
possibly damaging |
Het |
| Chst11 |
C |
A |
10: 82,927,980 (GRCm39) |
P66T |
probably benign |
Het |
| Cited2 |
C |
A |
10: 17,599,944 (GRCm39) |
P84Q |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,251,857 (GRCm39) |
V1914A |
probably benign |
Het |
| Dpy19l4 |
T |
A |
4: 11,290,253 (GRCm39) |
I302F |
possibly damaging |
Het |
| Ece2 |
A |
G |
16: 20,462,908 (GRCm39) |
E640G |
possibly damaging |
Het |
| Fam184b |
T |
C |
5: 45,689,166 (GRCm39) |
D890G |
possibly damaging |
Het |
| Fam227b |
A |
T |
2: 125,960,983 (GRCm39) |
D215E |
probably damaging |
Het |
| Foxp2 |
A |
G |
6: 15,394,717 (GRCm39) |
K139R |
probably damaging |
Het |
| Gle1 |
T |
C |
2: 29,833,805 (GRCm39) |
C401R |
probably damaging |
Het |
| Gp2 |
A |
T |
7: 119,052,097 (GRCm39) |
C206S |
probably damaging |
Het |
| Hdgfl2 |
G |
T |
17: 56,386,746 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,539,623 (GRCm39) |
N2956S |
probably damaging |
Het |
| Ifi209 |
A |
G |
1: 173,470,057 (GRCm39) |
Q215R |
possibly damaging |
Het |
| Il20rb |
C |
T |
9: 100,341,174 (GRCm39) |
|
probably benign |
Het |
| Katnip |
T |
C |
7: 125,468,030 (GRCm39) |
|
probably benign |
Het |
| Kif26b |
A |
C |
1: 178,743,773 (GRCm39) |
S1290R |
probably damaging |
Het |
| Mical1 |
A |
G |
10: 41,355,625 (GRCm39) |
I156M |
probably damaging |
Het |
| Nbas |
C |
T |
12: 13,378,452 (GRCm39) |
A613V |
probably benign |
Het |
| Nbea |
C |
T |
3: 55,987,351 (GRCm39) |
V380M |
probably damaging |
Het |
| Nutf2 |
T |
C |
8: 106,602,232 (GRCm39) |
F14S |
probably damaging |
Het |
| Or4c35 |
A |
T |
2: 89,808,133 (GRCm39) |
I4L |
probably benign |
Het |
| Or52r1b |
T |
A |
7: 102,690,972 (GRCm39) |
H95Q |
possibly damaging |
Het |
| Parp1 |
A |
G |
1: 180,408,187 (GRCm39) |
E236G |
probably benign |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Ptcd2 |
T |
A |
13: 99,466,577 (GRCm39) |
|
probably benign |
Het |
| Pygl |
T |
C |
12: 70,237,926 (GRCm39) |
Q704R |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,563,311 (GRCm39) |
S492T |
possibly damaging |
Het |
| Sephs1 |
G |
A |
2: 4,894,080 (GRCm39) |
D94N |
possibly damaging |
Het |
| Slc22a8 |
G |
T |
19: 8,586,483 (GRCm39) |
|
probably benign |
Het |
| Slfn5 |
A |
G |
11: 82,847,211 (GRCm39) |
D32G |
possibly damaging |
Het |
| Sphkap |
T |
A |
1: 83,253,397 (GRCm39) |
T1451S |
probably benign |
Het |
| Srp54a |
A |
C |
12: 55,138,051 (GRCm39) |
E63A |
probably null |
Het |
| Stap1 |
T |
A |
5: 86,238,827 (GRCm39) |
I165N |
probably damaging |
Het |
| Terf2 |
T |
C |
8: 107,797,181 (GRCm39) |
E494G |
probably damaging |
Het |
| Trak1 |
C |
A |
9: 121,196,188 (GRCm39) |
L7I |
possibly damaging |
Het |
| Twnk |
T |
C |
19: 44,998,931 (GRCm39) |
V557A |
probably damaging |
Het |
| U2af2 |
T |
A |
7: 5,070,263 (GRCm39) |
|
probably benign |
Het |
| Ube2j1 |
T |
A |
4: 33,038,317 (GRCm39) |
I75N |
probably damaging |
Het |
| Ubr5 |
A |
G |
15: 37,998,560 (GRCm39) |
V1643A |
probably damaging |
Het |
| Vsx2 |
A |
G |
12: 84,617,074 (GRCm39) |
T120A |
probably benign |
Het |
|
| Other mutations in Slc22a29 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Slc22a29
|
APN |
19 |
8,195,177 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL00562:Slc22a29
|
APN |
19 |
8,138,993 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00563:Slc22a29
|
APN |
19 |
8,138,993 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00952:Slc22a29
|
APN |
19 |
8,195,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01526:Slc22a29
|
APN |
19 |
8,184,542 (GRCm39) |
splice site |
probably benign |
|
|
IGL01792:Slc22a29
|
APN |
19 |
8,195,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02191:Slc22a29
|
APN |
19 |
8,196,045 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02391:Slc22a29
|
APN |
19 |
8,146,717 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02408:Slc22a29
|
APN |
19 |
8,184,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02957:Slc22a29
|
APN |
19 |
8,147,354 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03059:Slc22a29
|
APN |
19 |
8,147,354 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03299:Slc22a29
|
APN |
19 |
8,140,012 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0017:Slc22a29
|
UTSW |
19 |
8,195,630 (GRCm39) |
splice site |
probably benign |
|
|
R0105:Slc22a29
|
UTSW |
19 |
8,137,991 (GRCm39) |
unclassified |
probably benign |
|
|
R0157:Slc22a29
|
UTSW |
19 |
8,140,106 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0265:Slc22a29
|
UTSW |
19 |
8,147,334 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1758:Slc22a29
|
UTSW |
19 |
8,195,126 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1918:Slc22a29
|
UTSW |
19 |
8,195,123 (GRCm39) |
splice site |
probably null |
|
|
R1927:Slc22a29
|
UTSW |
19 |
8,184,430 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1959:Slc22a29
|
UTSW |
19 |
8,146,557 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1960:Slc22a29
|
UTSW |
19 |
8,146,557 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1961:Slc22a29
|
UTSW |
19 |
8,146,557 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1966:Slc22a29
|
UTSW |
19 |
8,195,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1968:Slc22a29
|
UTSW |
19 |
8,195,707 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1997:Slc22a29
|
UTSW |
19 |
8,195,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3105:Slc22a29
|
UTSW |
19 |
8,147,337 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3725:Slc22a29
|
UTSW |
19 |
8,195,973 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4118:Slc22a29
|
UTSW |
19 |
8,137,893 (GRCm39) |
unclassified |
probably benign |
|
|
R4465:Slc22a29
|
UTSW |
19 |
8,140,088 (GRCm39) |
nonsense |
probably null |
|
|
R4584:Slc22a29
|
UTSW |
19 |
8,146,655 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4656:Slc22a29
|
UTSW |
19 |
8,195,664 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4679:Slc22a29
|
UTSW |
19 |
8,138,948 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4899:Slc22a29
|
UTSW |
19 |
8,138,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4913:Slc22a29
|
UTSW |
19 |
8,195,722 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5119:Slc22a29
|
UTSW |
19 |
8,195,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5470:Slc22a29
|
UTSW |
19 |
8,138,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5474:Slc22a29
|
UTSW |
19 |
8,195,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6794:Slc22a29
|
UTSW |
19 |
8,138,887 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6798:Slc22a29
|
UTSW |
19 |
8,137,968 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7025:Slc22a29
|
UTSW |
19 |
8,137,944 (GRCm39) |
missense |
probably benign |
|
|
R7240:Slc22a29
|
UTSW |
19 |
8,138,875 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7535:Slc22a29
|
UTSW |
19 |
8,147,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7846:Slc22a29
|
UTSW |
19 |
8,170,851 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8169:Slc22a29
|
UTSW |
19 |
8,184,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8275:Slc22a29
|
UTSW |
19 |
8,146,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8403:Slc22a29
|
UTSW |
19 |
8,139,004 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8872:Slc22a29
|
UTSW |
19 |
8,137,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9129:Slc22a29
|
UTSW |
19 |
8,146,669 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9381:Slc22a29
|
UTSW |
19 |
8,195,841 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9550:Slc22a29
|
UTSW |
19 |
8,195,224 (GRCm39) |
nonsense |
probably null |
|
|
R9645:Slc22a29
|
UTSW |
19 |
8,184,488 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9673:Slc22a29
|
UTSW |
19 |
8,140,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation