Incidental Mutation 'R7025:Slc22a29'
| ID |
545934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a29
|
| Ensembl Gene |
ENSMUSG00000075044 |
| Gene Name |
solute carrier family 22. member 29 |
| Synonyms |
D630002G06Rik |
| MMRRC Submission |
045126-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7025 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
8137529-8196264 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 8137944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 544
(P544S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113298]
[ENSMUST00000222533]
|
| AlphaFold |
Q8BWG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113298
AA Change: P544S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108923
Gene: ENSMUSG00000075044
AA Change: P544S
| 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 |
probably benign
Transcript: ENSMUST00000222533
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd4 |
T |
A |
11: 102,995,364 (GRCm39) |
L90M |
probably damaging |
Het |
| Acot7 |
T |
C |
4: 152,262,646 (GRCm39) |
S7P |
unknown |
Het |
| Ahcyl2 |
T |
C |
6: 29,908,420 (GRCm39) |
Y388H |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,112,117 (GRCm39) |
R593* |
probably null |
Het |
| Bicral |
T |
C |
17: 47,112,594 (GRCm39) |
T869A |
probably benign |
Het |
| Brca2 |
C |
T |
5: 150,463,943 (GRCm39) |
P1236S |
probably benign |
Het |
| Cacna2d1 |
C |
T |
5: 16,557,666 (GRCm39) |
Q699* |
probably null |
Het |
| Ccser2 |
T |
C |
14: 36,661,964 (GRCm39) |
N407D |
probably damaging |
Het |
| Cd300lg |
A |
G |
11: 101,933,900 (GRCm39) |
Y49C |
probably damaging |
Het |
| Cdh12 |
C |
A |
15: 21,358,900 (GRCm39) |
T108K |
probably damaging |
Het |
| Ctnnd1 |
A |
T |
2: 84,440,950 (GRCm39) |
I715K |
possibly damaging |
Het |
| Cyp17a1 |
T |
A |
19: 46,659,419 (GRCm39) |
D137V |
probably damaging |
Het |
| Dbr1 |
A |
G |
9: 99,458,036 (GRCm39) |
T19A |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,629,233 (GRCm39) |
A1441T |
possibly damaging |
Het |
| Dpt |
G |
A |
1: 164,624,508 (GRCm39) |
D70N |
probably damaging |
Het |
| Elk4 |
C |
A |
1: 131,947,107 (GRCm39) |
P366Q |
probably damaging |
Het |
| Eml4 |
A |
C |
17: 83,732,740 (GRCm39) |
D131A |
probably benign |
Het |
| Faap24 |
A |
G |
7: 35,092,296 (GRCm39) |
I207T |
possibly damaging |
Het |
| Fam219a |
T |
C |
4: 41,521,925 (GRCm39) |
S41G |
probably benign |
Het |
| Gask1b |
T |
C |
3: 79,793,855 (GRCm39) |
Y108H |
probably damaging |
Het |
| Ifi203 |
T |
C |
1: 173,755,951 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,408,504 (GRCm39) |
V295A |
probably benign |
Het |
| Kif2a |
A |
G |
13: 107,119,102 (GRCm39) |
Y267H |
probably damaging |
Het |
| Kprp |
T |
A |
3: 92,732,504 (GRCm39) |
Q182L |
probably benign |
Het |
| Krt90 |
T |
C |
15: 101,465,610 (GRCm39) |
K337R |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,313,372 (GRCm39) |
Y2453F |
possibly damaging |
Het |
| Magel2 |
A |
C |
7: 62,029,535 (GRCm39) |
Y813S |
unknown |
Het |
| Myh7 |
C |
A |
14: 55,212,101 (GRCm39) |
E1548* |
probably null |
Het |
| Myh8 |
A |
G |
11: 67,188,365 (GRCm39) |
T1009A |
probably benign |
Het |
| Nab2 |
T |
A |
10: 127,502,377 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
C |
2: 52,186,285 (GRCm39) |
D929G |
possibly damaging |
Het |
| Nelfb |
A |
C |
2: 25,100,505 (GRCm39) |
V155G |
probably damaging |
Het |
| Nmur1 |
C |
A |
1: 86,315,570 (GRCm39) |
M65I |
possibly damaging |
Het |
| Nop56 |
C |
T |
2: 130,119,801 (GRCm39) |
R81* |
probably null |
Het |
| Npnt |
C |
T |
3: 132,614,157 (GRCm39) |
C47Y |
probably damaging |
Het |
| Nrp1 |
G |
T |
8: 129,207,435 (GRCm39) |
C610F |
probably damaging |
Het |
| Or4a71 |
T |
A |
2: 89,357,948 (GRCm39) |
I269F |
probably damaging |
Het |
| Or5d45 |
T |
C |
2: 88,153,606 (GRCm39) |
K148E |
probably damaging |
Het |
| Or6c63-ps1 |
T |
A |
10: 128,900,544 (GRCm39) |
M1L |
probably benign |
Het |
| Pax5 |
G |
A |
4: 44,679,501 (GRCm39) |
Q93* |
probably null |
Het |
| Pcnt |
G |
T |
10: 76,239,669 (GRCm39) |
Q1273K |
probably damaging |
Het |
| Pde4dip |
G |
A |
3: 97,631,499 (GRCm39) |
Q1137* |
probably null |
Het |
| Pfas |
A |
T |
11: 68,881,586 (GRCm39) |
D959E |
probably benign |
Het |
| Pira13 |
T |
A |
7: 3,824,261 (GRCm39) |
K629* |
probably null |
Het |
| Prex1 |
TCCGACCCC |
TCCGACCCCGACCCC |
2: 166,455,107 (GRCm39) |
|
probably benign |
Het |
| Prpf40b |
C |
T |
15: 99,204,281 (GRCm39) |
Q182* |
probably null |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Rpe65 |
A |
C |
3: 159,328,322 (GRCm39) |
E406A |
probably damaging |
Het |
| Serpina3k |
A |
T |
12: 104,307,401 (GRCm39) |
Y211F |
probably benign |
Het |
| Shkbp1 |
T |
C |
7: 27,054,706 (GRCm39) |
I65V |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,686,701 (GRCm39) |
D2281G |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,110,052 (GRCm39) |
M64T |
probably benign |
Het |
| Tnfrsf8 |
C |
T |
4: 145,000,973 (GRCm39) |
V378I |
possibly damaging |
Het |
| Trpm1 |
A |
T |
7: 63,876,462 (GRCm39) |
|
probably null |
Het |
| Ubqln3 |
A |
G |
7: 103,790,482 (GRCm39) |
I536T |
probably benign |
Het |
| Vmn1r44 |
A |
G |
6: 89,870,736 (GRCm39) |
T161A |
possibly damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,691,345 (GRCm39) |
I393F |
possibly 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 |
|
|
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGCAATTCCTATGTGATCAG -3'
(R):5'- TTGGTAATCCCCTAATGACCAACATAG -3'
Sequencing Primer
(F):5'- CAGCAATTCCTATGTGATCAGTTTTC -3'
(R):5'- TTTACCAAAATCCTCCAGAAGTAGTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation