Incidental Mutation 'IGL02957:Slc22a29'
ID |
365173 |
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 # |
IGL02957
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi2 |
A |
G |
1: 60,509,945 (GRCm39) |
D262G |
probably damaging |
Het |
Abtb3 |
T |
A |
10: 85,469,701 (GRCm39) |
M405K |
probably damaging |
Het |
Abtb3 |
C |
T |
10: 85,467,150 (GRCm39) |
|
probably benign |
Het |
Ahcyl1 |
G |
T |
3: 107,574,958 (GRCm39) |
Q462K |
probably damaging |
Het |
C8b |
A |
G |
4: 104,623,652 (GRCm39) |
T20A |
probably benign |
Het |
Casd1 |
T |
A |
6: 4,634,068 (GRCm39) |
Y594N |
possibly damaging |
Het |
Crtc2 |
C |
T |
3: 90,169,840 (GRCm39) |
P412L |
probably damaging |
Het |
Cyp3a44 |
T |
A |
5: 145,716,472 (GRCm39) |
R373* |
probably null |
Het |
Dnah10 |
A |
G |
5: 124,840,197 (GRCm39) |
D1277G |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,339,333 (GRCm39) |
V3058E |
possibly damaging |
Het |
Eif3l |
T |
C |
15: 78,974,028 (GRCm39) |
L481P |
probably benign |
Het |
Fbxw7 |
A |
T |
3: 84,883,544 (GRCm39) |
T573S |
probably benign |
Het |
Fcgbp |
C |
A |
7: 27,791,272 (GRCm39) |
Y844* |
probably null |
Het |
Fcrl2 |
C |
A |
3: 87,169,501 (GRCm39) |
V13F |
possibly damaging |
Het |
Gbx2 |
T |
G |
1: 89,858,375 (GRCm39) |
S35R |
probably benign |
Het |
H2-M9 |
A |
G |
17: 36,953,049 (GRCm39) |
L86S |
probably benign |
Het |
Hebp1 |
C |
T |
6: 135,114,990 (GRCm39) |
G157D |
probably benign |
Het |
Igf2bp3 |
C |
A |
6: 49,064,338 (GRCm39) |
V560L |
probably benign |
Het |
Igsf10 |
A |
G |
3: 59,238,285 (GRCm39) |
I632T |
probably damaging |
Het |
Kcnab2 |
A |
T |
4: 152,520,326 (GRCm39) |
S5T |
possibly damaging |
Het |
Kcnh5 |
T |
C |
12: 75,054,439 (GRCm39) |
S502G |
probably benign |
Het |
Lpcat2 |
T |
A |
8: 93,602,212 (GRCm39) |
Y224* |
probably null |
Het |
Mcrip2 |
A |
G |
17: 26,087,499 (GRCm39) |
V24A |
probably damaging |
Het |
Mttp |
T |
C |
3: 137,814,842 (GRCm39) |
K493E |
possibly damaging |
Het |
Myl7 |
A |
G |
11: 5,847,137 (GRCm39) |
S139P |
possibly damaging |
Het |
Npepps |
C |
T |
11: 97,133,478 (GRCm39) |
R268H |
probably damaging |
Het |
Oas1c |
C |
T |
5: 120,943,478 (GRCm39) |
W18* |
probably null |
Het |
Or10ak7 |
G |
T |
4: 118,791,316 (GRCm39) |
T241N |
probably damaging |
Het |
P4ha3 |
T |
C |
7: 99,968,112 (GRCm39) |
|
probably benign |
Het |
Pate14 |
G |
T |
9: 36,549,146 (GRCm39) |
T38K |
probably benign |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,376,304 (GRCm39) |
W989R |
probably damaging |
Het |
Podxl |
A |
G |
6: 31,505,384 (GRCm39) |
|
probably benign |
Het |
Pot1b |
T |
C |
17: 56,007,009 (GRCm39) |
Y36C |
probably damaging |
Het |
Ppme1 |
A |
T |
7: 99,987,647 (GRCm39) |
I103K |
possibly damaging |
Het |
Ppp1r12a |
T |
C |
10: 108,034,779 (GRCm39) |
I108T |
probably damaging |
Het |
Pramel1 |
A |
G |
4: 143,124,168 (GRCm39) |
H281R |
probably benign |
Het |
Prep |
T |
C |
10: 45,002,126 (GRCm39) |
V427A |
probably benign |
Het |
Prkce |
A |
G |
17: 86,803,454 (GRCm39) |
D451G |
possibly damaging |
Het |
Prrc2c |
A |
G |
1: 162,534,104 (GRCm39) |
|
probably benign |
Het |
Ramacl |
A |
T |
13: 67,056,277 (GRCm39) |
|
probably benign |
Het |
Rrm2 |
A |
G |
12: 24,758,440 (GRCm39) |
N32S |
probably damaging |
Het |
Sema6a |
A |
G |
18: 47,382,291 (GRCm39) |
L752P |
probably damaging |
Het |
Sik3 |
T |
A |
9: 46,107,143 (GRCm39) |
I429N |
possibly damaging |
Het |
Stk32a |
A |
T |
18: 43,445,057 (GRCm39) |
M284L |
probably benign |
Het |
Syde2 |
T |
C |
3: 145,694,934 (GRCm39) |
|
probably benign |
Het |
Tcta |
G |
A |
9: 108,182,531 (GRCm39) |
S91F |
possibly damaging |
Het |
Traf3ip2 |
A |
T |
10: 39,530,406 (GRCm39) |
T517S |
probably damaging |
Het |
Trpv3 |
A |
G |
11: 73,176,698 (GRCm39) |
Y359C |
probably damaging |
Het |
Vmn1r66 |
A |
G |
7: 10,008,737 (GRCm39) |
S99P |
probably damaging |
Het |
Vmn2r8 |
G |
A |
5: 108,950,091 (GRCm39) |
T252M |
probably benign |
Het |
Wdr27 |
A |
T |
17: 15,130,372 (GRCm39) |
|
probably benign |
Het |
Yipf1 |
A |
G |
4: 107,193,347 (GRCm39) |
T78A |
probably damaging |
Het |
Zfp735 |
A |
T |
11: 73,601,755 (GRCm39) |
Y233F |
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 |
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 |
2015-12-18 |