Incidental Mutation 'R8275:Slc22a29'
| ID |
637959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a29
|
| Ensembl Gene |
ENSMUSG00000075044 |
| Gene Name |
solute carrier family 22. member 29 |
| Synonyms |
D630002G06Rik |
| MMRRC Submission |
067698-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8275 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8137529-8196264 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8146681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 374
(S374G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113298]
|
| AlphaFold |
Q8BWG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113298
AA Change: S374G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000108923
Gene: ENSMUSG00000075044
AA Change: S374G
| 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
AA Change: S374G
|
| SMART Domains |
Protein: ENSMUSP00000117625
Gene: ENSMUSG00000075044
AA Change: S374G
| 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
AA Change: S338G
|
| SMART Domains |
Protein: ENSMUSP00000122262
Gene: ENSMUSG00000075044
AA Change: S338G
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alx1 |
T |
C |
10: 102,864,250 (GRCm39) |
D73G |
probably benign |
Het |
| Asah1 |
G |
A |
8: 41,801,159 (GRCm39) |
H156Y |
probably damaging |
Het |
| Cgn |
G |
A |
3: 94,682,263 (GRCm39) |
L439F |
possibly damaging |
Het |
| Creb1 |
C |
A |
1: 64,597,687 (GRCm39) |
T7K |
probably benign |
Het |
| Cyp2c54 |
T |
A |
19: 40,026,749 (GRCm39) |
I469L |
probably benign |
Het |
| Cyp2s1 |
T |
A |
7: 25,508,735 (GRCm39) |
T236S |
probably benign |
Het |
| Duox1 |
T |
C |
2: 122,175,249 (GRCm39) |
I1349T |
probably benign |
Het |
| Efhd2 |
C |
T |
4: 141,602,073 (GRCm39) |
A36T |
probably benign |
Het |
| Espl1 |
G |
A |
15: 102,211,188 (GRCm39) |
|
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,158,046 (GRCm39) |
Q1188L |
probably damaging |
Het |
| Flt1 |
A |
T |
5: 147,614,957 (GRCm39) |
Y330N |
probably damaging |
Het |
| Golga4 |
A |
T |
9: 118,361,627 (GRCm39) |
S202C |
probably damaging |
Het |
| Htr2b |
C |
T |
1: 86,030,294 (GRCm39) |
D134N |
probably damaging |
Het |
| Katna1 |
T |
A |
10: 7,628,574 (GRCm39) |
C268S |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,948,807 (GRCm39) |
Y857H |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,950,667 (GRCm39) |
I3741T |
probably benign |
Het |
| Mcm4 |
T |
C |
16: 15,452,435 (GRCm39) |
I233V |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,303,792 (GRCm39) |
V286A |
possibly damaging |
Het |
| Nav3 |
C |
A |
10: 109,527,984 (GRCm39) |
G1503V |
noncoding transcript |
Het |
| Obox1 |
T |
A |
7: 15,290,153 (GRCm39) |
N165K |
probably damaging |
Het |
| Or11g2 |
T |
A |
14: 50,855,868 (GRCm39) |
M63K |
probably damaging |
Het |
| Oxa1l |
T |
A |
14: 54,600,758 (GRCm39) |
I77N |
possibly damaging |
Het |
| Pakap |
T |
C |
4: 57,886,329 (GRCm39) |
|
probably null |
Het |
| Papss2 |
T |
C |
19: 32,615,760 (GRCm39) |
L164P |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,292,501 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Rsph10b |
C |
G |
5: 143,903,323 (GRCm39) |
T606S |
possibly damaging |
Het |
| Siglecg |
T |
C |
7: 43,061,892 (GRCm39) |
V546A |
probably benign |
Het |
| Tia1 |
C |
T |
6: 86,404,718 (GRCm39) |
Q318* |
probably null |
Het |
| Trpm2 |
T |
A |
10: 77,801,859 (GRCm39) |
K69* |
probably null |
Het |
| Unc80 |
C |
T |
1: 66,679,773 (GRCm39) |
R2115* |
probably null |
Het |
| Usp35 |
A |
G |
7: 96,964,026 (GRCm39) |
S436P |
probably damaging |
Het |
| Vmn1r220 |
A |
T |
13: 23,368,483 (GRCm39) |
L71* |
probably null |
Het |
| Vmn2r15 |
A |
T |
5: 109,434,150 (GRCm39) |
D851E |
probably benign |
Het |
| Vps33a |
A |
T |
5: 123,707,522 (GRCm39) |
D148E |
probably damaging |
Het |
| Zfp729a |
G |
A |
13: 67,768,223 (GRCm39) |
H669Y |
probably benign |
Het |
| Zfp804b |
C |
T |
5: 6,822,289 (GRCm39) |
R258Q |
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 |
|
|
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 |
|
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'- TGGCCACCAGAAATTGTTTG -3'
(R):5'- GCCAAGACGCCTTCATAGTC -3'
Sequencing Primer
(F):5'- TCCTGGGGAGATAGCAGAACTTTC -3'
(R):5'- GACGCCTTCATAGTCAAACTACTAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation