Incidental Mutation 'R7133:Slc29a1'
| ID |
552867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc29a1
|
| Ensembl Gene |
ENSMUSG00000023942 |
| Gene Name |
solute carrier family 29 (nucleoside transporters), member 1 |
| Synonyms |
1200014D21Rik, NBMPR-sensitive equilibrative nucleoside transporter, ENT1 |
| MMRRC Submission |
045218-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7133 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
45896126-45910532 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45900897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 89
(M89T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129242
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051574]
[ENSMUST00000064889]
[ENSMUST00000097317]
[ENSMUST00000163492]
[ENSMUST00000163905]
[ENSMUST00000164217]
[ENSMUST00000164618]
[ENSMUST00000164769]
[ENSMUST00000166119]
[ENSMUST00000166633]
[ENSMUST00000167195]
[ENSMUST00000167332]
[ENSMUST00000167692]
[ENSMUST00000168274]
[ENSMUST00000169729]
[ENSMUST00000170113]
[ENSMUST00000170488]
[ENSMUST00000171081]
[ENSMUST00000171847]
[ENSMUST00000172301]
|
| AlphaFold |
Q9JIM1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051574
AA Change: M89T
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000063096
Gene: ENSMUSG00000023942
AA Change: M89T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
|
Pfam:Nucleoside_tran
|
144 |
458 |
4.5e-131 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064889
AA Change: M89T
PolyPhen 2
Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000063757
Gene: ENSMUSG00000023942
AA Change: M89T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
|
Pfam:Nucleoside_tran
|
144 |
456 |
2.1e-130 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097317
AA Change: M89T
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000094923
Gene: ENSMUSG00000023942
AA Change: M89T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
|
Pfam:Nucleoside_tran
|
144 |
458 |
4.5e-131 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163492
AA Change: M89T
PolyPhen 2
Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000129242
Gene: ENSMUSG00000023942
AA Change: M89T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
|
Pfam:Nucleoside_tran
|
144 |
456 |
2.1e-130 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163905
AA Change: M89T
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129240
Gene: ENSMUSG00000023942
AA Change: M89T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
80 |
102 |
N/A |
INTRINSIC |
|
transmembrane domain
|
109 |
130 |
N/A |
INTRINSIC |
|
transmembrane domain
|
135 |
157 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164217
AA Change: M89T
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000131646
Gene: ENSMUSG00000023942
AA Change: M89T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
|
Pfam:Nucleoside_tran
|
144 |
262 |
8.4e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164618
AA Change: M89T
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126934
Gene: ENSMUSG00000023942
AA Change: M89T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
80 |
102 |
N/A |
INTRINSIC |
|
transmembrane domain
|
109 |
130 |
N/A |
INTRINSIC |
|
transmembrane domain
|
135 |
157 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164769
AA Change: M89T
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000131116
Gene: ENSMUSG00000023942
AA Change: M89T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
|
Pfam:Nucleoside_tran
|
144 |
358 |
2.7e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166119
AA Change: M89T
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128763
Gene: ENSMUSG00000023942
AA Change: M89T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
|
Pfam:Nucleoside_tran
|
144 |
458 |
4.5e-131 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166633
AA Change: M89T
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000131075
Gene: ENSMUSG00000023942
AA Change: M89T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
|
Pfam:Nucleoside_tran
|
144 |
195 |
1e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167195
AA Change: M57T
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000133162
Gene: ENSMUSG00000023942
AA Change: M57T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
transmembrane domain
|
77 |
98 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167332
AA Change: M89T
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000131483
Gene: ENSMUSG00000023942
AA Change: M89T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167692
AA Change: M89T
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000131976
Gene: ENSMUSG00000023942
AA Change: M89T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
|
Pfam:Nucleoside_tran
|
144 |
458 |
4.5e-131 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168274
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169729
AA Change: M57T
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127343
Gene: ENSMUSG00000023942
AA Change: M57T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170113
|
| SMART Domains |
Protein: ENSMUSP00000128304
Gene: ENSMUSG00000023942
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170488
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171081
AA Change: M89T
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000131217
Gene: ENSMUSG00000023942
AA Change: M89T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
|
Pfam:Nucleoside_tran
|
144 |
262 |
8.4e-46 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171847
AA Change: M89T
PolyPhen 2
Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000126703
Gene: ENSMUSG00000023942
AA Change: M89T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
|
Pfam:Nucleoside_tran
|
144 |
456 |
2.1e-130 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172301
AA Change: M89T
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129345
Gene: ENSMUSG00000023942
AA Change: M89T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
80 |
102 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (91/93) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null allele exhibit a slightly decreased body weight, increased alcohol preference and alcohol consumption, and reduced hypnotic and ataxic responses to ethanol associated with a reduction in adenosine tone. Adenosine uptake is almost completely abolished in mice homozygous for a knock-out allele. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
A |
10: 78,902,473 (GRCm39) |
K614N |
probably benign |
Het |
| 2610008E11Rik |
T |
G |
10: 78,902,474 (GRCm39) |
K614T |
probably benign |
Het |
| Ahsa1 |
T |
A |
12: 87,317,116 (GRCm39) |
S120R |
probably benign |
Het |
| Anapc16 |
G |
A |
10: 59,832,302 (GRCm39) |
T37I |
possibly damaging |
Het |
| Arid2 |
C |
A |
15: 96,276,756 (GRCm39) |
P1606H |
probably damaging |
Het |
| Ash1l |
TATCTCCTTTTCCAAAAA |
TA |
3: 88,890,764 (GRCm39) |
|
probably null |
Het |
| Asic1 |
T |
A |
15: 99,569,968 (GRCm39) |
N96K |
probably damaging |
Het |
| Asph |
A |
T |
4: 9,484,575 (GRCm39) |
D582E |
probably benign |
Het |
| Astn1 |
A |
G |
1: 158,400,557 (GRCm39) |
D528G |
probably damaging |
Het |
| Atp9b |
A |
G |
18: 80,952,871 (GRCm39) |
V164A |
|
Het |
| Cbx6 |
C |
T |
15: 79,712,866 (GRCm39) |
G187D |
possibly damaging |
Het |
| Cct7 |
A |
G |
6: 85,443,627 (GRCm39) |
T332A |
probably benign |
Het |
| Clca4a |
A |
T |
3: 144,667,651 (GRCm39) |
L440* |
probably null |
Het |
| Crybg2 |
A |
T |
4: 133,792,754 (GRCm39) |
I130F |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,357,167 (GRCm39) |
E798G |
probably damaging |
Het |
| Ctnnd2 |
A |
G |
15: 30,480,995 (GRCm39) |
E81G |
possibly damaging |
Het |
| Cwc22 |
C |
T |
2: 77,759,822 (GRCm39) |
R75H |
possibly damaging |
Het |
| Cym |
T |
G |
3: 107,121,530 (GRCm39) |
D254A |
probably damaging |
Het |
| Dcaf11 |
T |
A |
14: 55,806,383 (GRCm39) |
|
probably null |
Het |
| Dctn1 |
A |
T |
6: 83,157,026 (GRCm39) |
|
probably null |
Het |
| Dennd5a |
C |
T |
7: 109,495,449 (GRCm39) |
|
probably null |
Het |
| Dmpk |
T |
A |
7: 18,821,232 (GRCm39) |
C217S |
probably damaging |
Het |
| Dnah1 |
C |
A |
14: 31,008,033 (GRCm39) |
V2125L |
probably benign |
Het |
| Exoc4 |
G |
A |
6: 33,415,408 (GRCm39) |
A427T |
probably benign |
Het |
| Farp2 |
G |
T |
1: 93,548,956 (GRCm39) |
V1021F |
probably damaging |
Het |
| Flg2 |
T |
C |
3: 93,127,069 (GRCm39) |
S1994P |
unknown |
Het |
| Fmnl1 |
T |
C |
11: 103,072,610 (GRCm39) |
|
probably null |
Het |
| Frem2 |
T |
A |
3: 53,479,760 (GRCm39) |
I1978F |
possibly damaging |
Het |
| Gan |
T |
A |
8: 117,913,969 (GRCm39) |
C122* |
probably null |
Het |
| Gpr25 |
T |
A |
1: 136,188,559 (GRCm39) |
Y18F |
probably damaging |
Het |
| Hoxa7 |
C |
T |
6: 52,192,720 (GRCm39) |
E223K |
probably benign |
Het |
| Hypk |
A |
G |
2: 121,283,961 (GRCm39) |
|
probably null |
Het |
| Ibsp |
A |
T |
5: 104,450,172 (GRCm39) |
K27* |
probably null |
Het |
| Ighv6-5 |
T |
A |
12: 114,380,395 (GRCm39) |
T41S |
probably benign |
Het |
| Ighv9-4 |
T |
C |
12: 114,263,757 (GRCm39) |
M59V |
probably benign |
Het |
| Il17rb |
T |
C |
14: 29,718,828 (GRCm39) |
D418G |
probably damaging |
Het |
| Ints5 |
T |
A |
19: 8,872,923 (GRCm39) |
V294E |
probably damaging |
Het |
| Irx6 |
G |
A |
8: 93,405,041 (GRCm39) |
C303Y |
probably damaging |
Het |
| Itih3 |
T |
A |
14: 30,639,655 (GRCm39) |
I389F |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,089,141 (GRCm39) |
T1604I |
|
Het |
| Lama3 |
C |
A |
18: 12,672,843 (GRCm39) |
Q873K |
probably benign |
Het |
| Lhx1 |
T |
G |
11: 84,410,746 (GRCm39) |
S284R |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,302,238 (GRCm39) |
|
probably null |
Het |
| Lrg1 |
C |
T |
17: 56,427,592 (GRCm39) |
G127R |
possibly damaging |
Het |
| Macir |
G |
A |
1: 97,573,645 (GRCm39) |
P140L |
probably benign |
Het |
| Mapre1 |
T |
A |
2: 153,606,883 (GRCm39) |
L205H |
probably benign |
Het |
| Meltf |
A |
G |
16: 31,711,617 (GRCm39) |
N581S |
probably damaging |
Het |
| Mgat5 |
A |
C |
1: 127,292,926 (GRCm39) |
M149L |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,093,412 (GRCm39) |
T168A |
probably benign |
Het |
| Naalad2 |
C |
T |
9: 18,238,673 (GRCm39) |
V681I |
probably benign |
Het |
| Or51e2 |
A |
G |
7: 102,391,524 (GRCm39) |
S229P |
probably damaging |
Het |
| Or52r1c |
T |
A |
7: 102,735,205 (GRCm39) |
L155Q |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,528,243 (GRCm39) |
T1326A |
probably benign |
Het |
| Peg3 |
A |
T |
7: 6,711,944 (GRCm39) |
C1093S |
probably damaging |
Het |
| Pidd1 |
T |
C |
7: 141,019,813 (GRCm39) |
S650G |
probably benign |
Het |
| Pik3c2b |
T |
C |
1: 133,017,972 (GRCm39) |
S945P |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,060,227 (GRCm39) |
T3237A |
possibly damaging |
Het |
| Prpf3 |
A |
T |
3: 95,741,052 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
C |
A |
13: 35,085,477 (GRCm39) |
H974Q |
probably benign |
Het |
| Ptpn3 |
T |
C |
4: 57,225,863 (GRCm39) |
T451A |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,724,429 (GRCm39) |
Y1577H |
probably damaging |
Het |
| Rgr |
C |
T |
14: 36,770,882 (GRCm39) |
M1I |
probably null |
Het |
| Rxrg |
A |
T |
1: 167,458,678 (GRCm39) |
N257I |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,922,146 (GRCm39) |
D9G |
probably damaging |
Het |
| Scd1 |
T |
C |
19: 44,395,034 (GRCm39) |
K64E |
probably damaging |
Het |
| Serpinb1a |
T |
A |
13: 33,034,308 (GRCm39) |
I28F |
possibly damaging |
Het |
| Sfmbt2 |
A |
T |
2: 10,406,818 (GRCm39) |
E39V |
probably damaging |
Het |
| Slco4a1 |
T |
A |
2: 180,113,856 (GRCm39) |
V431E |
possibly damaging |
Het |
| Smg1 |
C |
T |
7: 117,752,131 (GRCm39) |
C2698Y |
unknown |
Het |
| Sptlc2 |
C |
T |
12: 87,397,151 (GRCm39) |
D212N |
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,657,899 (GRCm39) |
T334A |
possibly damaging |
Het |
| Stim2 |
A |
T |
5: 54,156,263 (GRCm39) |
D13V |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,181,592 (GRCm39) |
W4248R |
probably damaging |
Het |
| Tanc1 |
T |
C |
2: 59,627,953 (GRCm39) |
Y584H |
probably benign |
Het |
| Thoc6 |
C |
A |
17: 23,892,634 (GRCm39) |
|
probably null |
Het |
| Trim30a |
T |
A |
7: 104,078,533 (GRCm39) |
N181I |
possibly damaging |
Het |
| Trip11 |
T |
A |
12: 101,850,329 (GRCm39) |
Q1245L |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,469,994 (GRCm39) |
D661G |
probably benign |
Het |
| Ttll8 |
C |
A |
15: 88,799,630 (GRCm39) |
V604L |
probably damaging |
Het |
| Ubtfl1 |
A |
G |
9: 18,320,931 (GRCm39) |
D153G |
probably damaging |
Het |
| Ufsp2 |
C |
A |
8: 46,436,661 (GRCm39) |
N137K |
probably benign |
Het |
| Ugt2a3 |
A |
G |
5: 87,473,393 (GRCm39) |
I508T |
possibly damaging |
Het |
| Uso1 |
G |
A |
5: 92,306,324 (GRCm39) |
E94K |
probably benign |
Het |
| Usp54 |
A |
G |
14: 20,611,310 (GRCm39) |
S1169P |
probably benign |
Het |
| Vmn1r235 |
C |
T |
17: 21,482,292 (GRCm39) |
P206S |
probably benign |
Het |
| Vmn1r69 |
T |
C |
7: 10,314,995 (GRCm39) |
|
probably benign |
Het |
| Zfp263 |
T |
A |
16: 3,567,255 (GRCm39) |
C523* |
probably null |
Het |
| Zfp799 |
G |
T |
17: 33,039,210 (GRCm39) |
T352K |
probably benign |
Het |
| Zfr |
T |
A |
15: 12,180,724 (GRCm39) |
V951E |
probably damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,330,926 (GRCm39) |
D431G |
probably benign |
Het |
| Zswim9 |
C |
A |
7: 12,993,664 (GRCm39) |
A831S |
probably damaging |
Het |
|
| Other mutations in Slc29a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00562:Slc29a1
|
APN |
17 |
45,900,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01617:Slc29a1
|
APN |
17 |
45,900,375 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02154:Slc29a1
|
APN |
17 |
45,897,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
soldate
|
UTSW |
17 |
45,897,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
veteran
|
UTSW |
17 |
45,900,847 (GRCm39) |
critical splice donor site |
probably null |
|
|
veterinarian
|
UTSW |
17 |
45,897,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
workhorse
|
UTSW |
17 |
45,899,992 (GRCm39) |
nonsense |
probably null |
|
|
R0288:Slc29a1
|
UTSW |
17 |
45,900,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Slc29a1
|
UTSW |
17 |
45,901,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:Slc29a1
|
UTSW |
17 |
45,899,936 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1777:Slc29a1
|
UTSW |
17 |
45,898,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2032:Slc29a1
|
UTSW |
17 |
45,897,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2413:Slc29a1
|
UTSW |
17 |
45,896,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3917:Slc29a1
|
UTSW |
17 |
45,899,899 (GRCm39) |
splice site |
probably null |
|
|
R4513:Slc29a1
|
UTSW |
17 |
45,899,992 (GRCm39) |
nonsense |
probably null |
|
|
R4583:Slc29a1
|
UTSW |
17 |
45,900,882 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5244:Slc29a1
|
UTSW |
17 |
45,899,339 (GRCm39) |
unclassified |
probably benign |
|
|
R6174:Slc29a1
|
UTSW |
17 |
45,900,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6284:Slc29a1
|
UTSW |
17 |
45,900,847 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6446:Slc29a1
|
UTSW |
17 |
45,900,171 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6607:Slc29a1
|
UTSW |
17 |
45,899,853 (GRCm39) |
splice site |
probably null |
|
|
R7153:Slc29a1
|
UTSW |
17 |
45,896,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7248:Slc29a1
|
UTSW |
17 |
45,903,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7271:Slc29a1
|
UTSW |
17 |
45,899,288 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7604:Slc29a1
|
UTSW |
17 |
45,903,250 (GRCm39) |
splice site |
probably null |
|
|
R7811:Slc29a1
|
UTSW |
17 |
45,897,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8406:Slc29a1
|
UTSW |
17 |
45,900,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8751:Slc29a1
|
UTSW |
17 |
45,900,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8851:Slc29a1
|
UTSW |
17 |
45,900,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9224:Slc29a1
|
UTSW |
17 |
45,897,153 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9301:Slc29a1
|
UTSW |
17 |
45,897,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Slc29a1
|
UTSW |
17 |
45,901,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCCGAACAGATTGAGAGATCC -3'
(R):5'- GCTTTCAAGGCCTGGTTCTG -3'
Sequencing Primer
(F):5'- CCGAACAGATTGAGAGATCCTAGGAG -3'
(R):5'- AAGGCCTGGTTCTGTGCCTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation