Incidental Mutation 'IGL03059:Slc22a29'
ID |
409362 |
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 # |
IGL03059
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
8137529-8196264 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 8147354 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 336
(L336P)
|
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: L336P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000108923 Gene: ENSMUSG00000075044 AA Change: L336P
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: L336P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
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 |
Ahsg |
T |
C |
16: 22,717,755 (GRCm39) |
V244A |
possibly damaging |
Het |
Aoc1l3 |
A |
T |
6: 48,964,349 (GRCm39) |
Y119F |
probably benign |
Het |
Ccdc187 |
C |
A |
2: 26,184,253 (GRCm39) |
R48M |
probably null |
Het |
Cnga2 |
G |
A |
X: 71,051,878 (GRCm39) |
R251H |
probably damaging |
Het |
Cop1 |
A |
C |
1: 159,134,279 (GRCm39) |
K174Q |
probably damaging |
Het |
Cul9 |
T |
C |
17: 46,849,913 (GRCm39) |
D512G |
probably damaging |
Het |
Flt4 |
G |
A |
11: 49,533,134 (GRCm39) |
A1140T |
probably damaging |
Het |
Galnt3 |
C |
T |
2: 65,923,954 (GRCm39) |
R438H |
probably damaging |
Het |
Gatm |
G |
A |
2: 122,440,181 (GRCm39) |
A86V |
probably damaging |
Het |
Klhl28 |
C |
T |
12: 64,998,340 (GRCm39) |
A385T |
probably benign |
Het |
Klhl40 |
T |
A |
9: 121,607,203 (GRCm39) |
V121E |
probably damaging |
Het |
L1cam |
T |
A |
X: 72,910,630 (GRCm39) |
H30L |
probably benign |
Het |
Lss |
A |
T |
10: 76,367,860 (GRCm39) |
|
probably benign |
Het |
Mrnip |
A |
T |
11: 50,090,596 (GRCm39) |
Q253H |
probably damaging |
Het |
Mroh9 |
A |
T |
1: 162,852,205 (GRCm39) |
F828Y |
possibly damaging |
Het |
Mst1 |
T |
C |
9: 107,962,012 (GRCm39) |
C668R |
probably damaging |
Het |
Nadk |
A |
G |
4: 155,671,253 (GRCm39) |
E143G |
probably benign |
Het |
Nap1l4 |
C |
T |
7: 143,080,902 (GRCm39) |
|
probably null |
Het |
Nme8 |
A |
G |
13: 19,836,414 (GRCm39) |
I254T |
possibly damaging |
Het |
Or14c41 |
A |
G |
7: 86,234,779 (GRCm39) |
I99V |
probably benign |
Het |
Or1ab2 |
T |
A |
8: 72,863,842 (GRCm39) |
L144Q |
probably damaging |
Het |
Or2y12 |
A |
G |
11: 49,426,021 (GRCm39) |
Y3C |
probably benign |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Pkd1l3 |
C |
T |
8: 110,374,999 (GRCm39) |
L1491F |
probably damaging |
Het |
Plec |
G |
T |
15: 76,059,968 (GRCm39) |
T3488N |
probably damaging |
Het |
Plk2 |
T |
G |
13: 110,535,668 (GRCm39) |
S497A |
probably benign |
Het |
Polr1a |
G |
A |
6: 71,913,496 (GRCm39) |
V617I |
probably benign |
Het |
Prelid3a |
C |
A |
18: 67,609,909 (GRCm39) |
Y112* |
probably null |
Het |
Rnf113a2 |
C |
A |
12: 84,464,250 (GRCm39) |
S47R |
possibly damaging |
Het |
Rtel1 |
A |
G |
2: 180,991,976 (GRCm39) |
N410D |
probably benign |
Het |
Ryr3 |
C |
T |
2: 112,630,392 (GRCm39) |
A2140T |
probably damaging |
Het |
Sphkap |
T |
A |
1: 83,234,963 (GRCm39) |
Q1621L |
probably damaging |
Het |
Trgc1 |
A |
T |
13: 19,400,072 (GRCm39) |
K123* |
probably null |
Het |
Ttn |
T |
A |
2: 76,739,863 (GRCm39) |
S3559C |
probably benign |
Het |
Ubr4 |
C |
T |
4: 139,207,987 (GRCm39) |
R4923W |
probably damaging |
Het |
Vac14 |
T |
C |
8: 111,437,084 (GRCm39) |
L599P |
probably damaging |
Het |
Wdr5 |
T |
C |
2: 27,409,746 (GRCm39) |
|
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 |
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 |
2016-08-02 |