Incidental Mutation 'R4118:Slc22a29'
| ID |
315203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a29
|
| Ensembl Gene |
ENSMUSG00000075044 |
| Gene Name |
solute carrier family 22. member 29 |
| Synonyms |
D630002G06Rik |
| MMRRC Submission |
041631-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4118 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8137529-8196264 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to C
at 8137893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113298]
[ENSMUST00000222533]
|
| AlphaFold |
Q8BWG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113298
|
| SMART Domains |
Protein: ENSMUSP00000108923
Gene: ENSMUSG00000075044
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
92% (55/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,373,503 (GRCm39) |
R31G |
possibly damaging |
Het |
| 4932414N04Rik |
C |
T |
2: 68,566,857 (GRCm39) |
R419C |
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,816,418 (GRCm39) |
E232G |
possibly damaging |
Het |
| Arhgef4 |
A |
T |
1: 34,771,428 (GRCm39) |
K1245M |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,343,858 (GRCm39) |
L83P |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,793,044 (GRCm39) |
D1000G |
possibly damaging |
Het |
| Atxn7 |
T |
C |
14: 14,100,308 (GRCm38) |
S665P |
probably benign |
Het |
| Bbs4 |
T |
C |
9: 59,237,708 (GRCm39) |
Y212C |
possibly damaging |
Het |
| Cars1 |
A |
G |
7: 143,113,384 (GRCm39) |
|
probably null |
Het |
| Cep162 |
T |
C |
9: 87,086,229 (GRCm39) |
T1032A |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,865,831 (GRCm39) |
E668K |
probably damaging |
Het |
| Dek |
T |
C |
13: 47,242,076 (GRCm39) |
T201A |
probably benign |
Het |
| Depdc5 |
T |
A |
5: 33,121,979 (GRCm39) |
S1079T |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,896,180 (GRCm39) |
S646T |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,463,474 (GRCm39) |
S1339P |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,503,981 (GRCm39) |
D4491E |
probably damaging |
Het |
| Gmps |
T |
C |
3: 63,887,615 (GRCm39) |
V29A |
probably benign |
Het |
| Gpr18 |
T |
C |
14: 122,149,968 (GRCm39) |
E19G |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,176,073 (GRCm39) |
T633A |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,055,532 (GRCm39) |
S317R |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,583,488 (GRCm39) |
M692K |
probably benign |
Het |
| Lrp12 |
A |
T |
15: 39,741,361 (GRCm39) |
C451* |
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,260,606 (GRCm39) |
|
probably null |
Het |
| Myrfl |
T |
A |
10: 116,664,870 (GRCm39) |
I387F |
probably damaging |
Het |
| Naglu |
G |
A |
11: 100,964,908 (GRCm39) |
V332I |
probably benign |
Het |
| Nat2 |
G |
A |
8: 67,954,271 (GRCm39) |
R127H |
possibly damaging |
Het |
| Otx2 |
G |
A |
14: 48,896,611 (GRCm39) |
T141I |
probably benign |
Het |
| Paqr9 |
T |
A |
9: 95,442,952 (GRCm39) |
I314N |
probably damaging |
Het |
| Pds5b |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
5: 150,698,819 (GRCm39) |
|
probably benign |
Het |
| Ppm1d |
A |
G |
11: 85,202,408 (GRCm39) |
D37G |
probably benign |
Het |
| Prdm9 |
T |
G |
17: 15,764,275 (GRCm39) |
D835A |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,547,781 (GRCm39) |
S206P |
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,976,194 (GRCm39) |
|
probably null |
Het |
| Rpgrip1l |
G |
A |
8: 91,979,535 (GRCm39) |
T969I |
probably benign |
Het |
| Rpp40 |
A |
G |
13: 36,080,787 (GRCm39) |
Y316H |
probably damaging |
Het |
| Serpinb3d |
A |
T |
1: 107,006,960 (GRCm39) |
D249E |
possibly damaging |
Het |
| Slc35f1 |
T |
C |
10: 52,965,464 (GRCm39) |
M293T |
probably damaging |
Het |
| Slmap |
A |
T |
14: 26,204,027 (GRCm39) |
L98H |
probably damaging |
Het |
| Tiam1 |
C |
T |
16: 89,673,921 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
A |
G |
14: 50,600,684 (GRCm39) |
Y890C |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,868,074 (GRCm39) |
T194A |
probably benign |
Het |
| Ubap1 |
A |
T |
4: 41,371,767 (GRCm39) |
D26V |
probably damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,330,358 (GRCm39) |
N547K |
probably damaging |
Het |
| Wiz |
C |
T |
17: 32,588,331 (GRCm39) |
|
probably benign |
Het |
| Wwp2 |
A |
G |
8: 108,272,091 (GRCm39) |
T399A |
probably benign |
Het |
| Zfp729b |
A |
T |
13: 67,740,829 (GRCm39) |
F479I |
possibly damaging |
Het |
| Zswim5 |
G |
A |
4: 116,844,016 (GRCm39) |
R1018H |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAATCTCCTACGTGATTACTCATAGG -3'
(R):5'- GTCATTGTTACAAAGGTGATGAGTG -3'
Sequencing Primer
(F):5'- TCGATTGCAGCAATTCC -3'
(R):5'- TAGATTATTCTGAGATGAACCTAGGG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation