Incidental Mutation 'IGL02391:Slc22a29'
| ID |
293844 |
| 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 # |
IGL02391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
8137529-8196264 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 8146717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 362
(S362T)
|
| 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: S362T
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108923
Gene: ENSMUSG00000075044
AA Change: S362T
| 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: ENSMUST00000142517
|
| 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: S362T
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
A |
14: 118,790,764 (GRCm39) |
N748Y |
probably damaging |
Het |
| Actbl2 |
A |
G |
13: 111,391,701 (GRCm39) |
D12G |
possibly damaging |
Het |
| Adamts10 |
T |
C |
17: 33,747,785 (GRCm39) |
S74P |
probably benign |
Het |
| Adprs |
C |
T |
4: 126,211,701 (GRCm39) |
|
probably benign |
Het |
| Amn1 |
A |
G |
6: 149,070,944 (GRCm39) |
|
probably null |
Het |
| Antxr1 |
A |
T |
6: 87,264,038 (GRCm39) |
I144N |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Cabp5 |
A |
T |
7: 13,132,269 (GRCm39) |
R13* |
probably null |
Het |
| Cacna1e |
A |
G |
1: 154,296,859 (GRCm39) |
Y1669H |
probably damaging |
Het |
| Ccdc174 |
A |
G |
6: 91,875,263 (GRCm39) |
E364G |
possibly damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,283,918 (GRCm39) |
P74S |
probably damaging |
Het |
| Clec3a |
C |
T |
8: 115,152,240 (GRCm39) |
S82L |
probably benign |
Het |
| Cnih3 |
A |
G |
1: 181,234,078 (GRCm39) |
D43G |
probably damaging |
Het |
| Dpp10 |
G |
A |
1: 123,578,087 (GRCm39) |
T128M |
probably damaging |
Het |
| Edar |
A |
T |
10: 58,464,403 (GRCm39) |
F79I |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,251,272 (GRCm39) |
H199Q |
probably benign |
Het |
| Fermt1 |
A |
G |
2: 132,783,871 (GRCm39) |
L46P |
probably damaging |
Het |
| Glipr1 |
A |
G |
10: 111,824,799 (GRCm39) |
|
probably benign |
Het |
| Gsdmc |
T |
C |
15: 63,675,428 (GRCm39) |
N129S |
probably damaging |
Het |
| Ift88 |
T |
C |
14: 57,718,871 (GRCm39) |
S619P |
possibly damaging |
Het |
| Itga9 |
T |
A |
9: 118,679,873 (GRCm39) |
V262E |
probably benign |
Het |
| Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
| Mta1 |
T |
A |
12: 113,100,203 (GRCm39) |
I688N |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,570,894 (GRCm39) |
R651S |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,586,560 (GRCm39) |
I93V |
probably damaging |
Het |
| Or12d17 |
C |
T |
17: 37,777,477 (GRCm39) |
P127S |
probably damaging |
Het |
| Or13p4 |
A |
G |
4: 118,547,538 (GRCm39) |
L37P |
probably damaging |
Het |
| Or9r7 |
A |
G |
10: 129,962,773 (GRCm39) |
V51A |
possibly damaging |
Het |
| Parg |
T |
G |
14: 31,984,638 (GRCm39) |
|
probably null |
Het |
| Rps3a3 |
A |
G |
13: 108,807,417 (GRCm39) |
|
probably benign |
Het |
| Safb |
T |
A |
17: 56,907,813 (GRCm39) |
|
probably benign |
Het |
| Sat2 |
G |
T |
11: 69,513,575 (GRCm39) |
C54F |
probably damaging |
Het |
| Scin |
T |
A |
12: 40,127,530 (GRCm39) |
Y420F |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,738,254 (GRCm39) |
D537G |
probably null |
Het |
| Spred3 |
A |
G |
7: 28,865,830 (GRCm39) |
S126P |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,080,578 (GRCm39) |
E951K |
probably damaging |
Het |
| Ssmem1 |
A |
G |
6: 30,512,441 (GRCm39) |
E28G |
possibly damaging |
Het |
| Stox1 |
A |
T |
10: 62,495,455 (GRCm39) |
|
probably benign |
Het |
| Syn3 |
T |
C |
10: 85,900,770 (GRCm39) |
I373V |
probably benign |
Het |
| Tecrl |
A |
T |
5: 83,502,674 (GRCm39) |
F58L |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,033,191 (GRCm39) |
N1655S |
possibly damaging |
Het |
| Usp2 |
G |
T |
9: 44,002,524 (GRCm39) |
Q147H |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,264,326 (GRCm39) |
N1751K |
possibly damaging |
Het |
| Wipf1 |
T |
A |
2: 73,264,487 (GRCm39) |
D438V |
probably damaging |
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 |
|
|
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 |
|
|
IGL03368:Slc22a29
|
APN |
19 |
8,184,626 (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 |
2015-04-16 |
Incidental Mutation