Incidental Mutation 'R2373:Slc5a7'
| ID |
248215 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a7
|
| Ensembl Gene |
ENSMUSG00000023945 |
| Gene Name |
solute carrier family 5 (choline transporter), member 7 |
| Synonyms |
CHT1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2373 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
54580618-54606062 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54584154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 379
(W379R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095712]
|
| AlphaFold |
Q8BGY9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095712
AA Change: W379R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093379
Gene: ENSMUSG00000023945
AA Change: W379R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:SSF
|
42 |
442 |
4.7e-36 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous null mice display neonatal lethality with respiratory failure, hyporesponsiveness to touch, inability to sustain acetylcholine release, and abnormal neuromuscular junction morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 9130023H24Rik |
A |
T |
7: 127,836,487 (GRCm39) |
D35E |
probably benign |
Het |
| 9330159F19Rik |
A |
G |
10: 29,101,039 (GRCm39) |
N471D |
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,623,361 (GRCm39) |
F86I |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,457 (GRCm39) |
T849A |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,244,367 (GRCm39) |
D965E |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,243,820 (GRCm39) |
T1458A |
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,939,349 (GRCm39) |
M876L |
possibly damaging |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,564,095 (GRCm39) |
V1710E |
probably benign |
Het |
| Corin |
G |
A |
5: 72,496,381 (GRCm39) |
S524L |
probably damaging |
Het |
| Dennd2c |
A |
G |
3: 103,064,158 (GRCm39) |
H658R |
probably damaging |
Het |
| Disp3 |
A |
G |
4: 148,343,252 (GRCm39) |
V553A |
probably damaging |
Het |
| Dpm2 |
T |
C |
2: 32,462,457 (GRCm39) |
F81S |
probably benign |
Het |
| Emc2 |
T |
A |
15: 43,377,154 (GRCm39) |
I239N |
probably damaging |
Het |
| Fhip1a |
C |
T |
3: 85,583,404 (GRCm39) |
W464* |
probably null |
Het |
| Fzd5 |
C |
T |
1: 64,774,066 (GRCm39) |
G565D |
probably damaging |
Het |
| Gpld1 |
T |
C |
13: 25,146,839 (GRCm39) |
F267S |
probably benign |
Het |
| Kif14 |
C |
A |
1: 136,407,583 (GRCm39) |
A46E |
probably damaging |
Het |
| Mta3 |
G |
T |
17: 84,091,730 (GRCm39) |
E179* |
probably null |
Het |
| Ninl |
T |
G |
2: 150,822,037 (GRCm39) |
T22P |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,480,190 (GRCm39) |
N2039S |
probably damaging |
Het |
| Rc3h2 |
A |
G |
2: 37,269,013 (GRCm39) |
S818P |
possibly damaging |
Het |
| Scn11a |
T |
A |
9: 119,642,252 (GRCm39) |
E162D |
probably benign |
Het |
| Sptb |
C |
T |
12: 76,667,935 (GRCm39) |
V721M |
probably damaging |
Het |
| Vmn1r82 |
T |
A |
7: 12,038,982 (GRCm39) |
V85E |
probably damaging |
Het |
| Vmn2r130 |
T |
C |
17: 23,280,480 (GRCm39) |
I47T |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,665 (GRCm39) |
F41L |
probably benign |
Het |
|
| Other mutations in Slc5a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01098:Slc5a7
|
APN |
17 |
54,599,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01833:Slc5a7
|
APN |
17 |
54,588,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02206:Slc5a7
|
APN |
17 |
54,604,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02493:Slc5a7
|
APN |
17 |
54,600,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02598:Slc5a7
|
APN |
17 |
54,591,221 (GRCm39) |
missense |
probably benign |
|
|
IGL02693:Slc5a7
|
APN |
17 |
54,583,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02896:Slc5a7
|
APN |
17 |
54,600,045 (GRCm39) |
nonsense |
probably null |
|
|
R0288:Slc5a7
|
UTSW |
17 |
54,600,046 (GRCm39) |
nonsense |
probably null |
|
|
R1137:Slc5a7
|
UTSW |
17 |
54,600,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1692:Slc5a7
|
UTSW |
17 |
54,588,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1755:Slc5a7
|
UTSW |
17 |
54,600,006 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1987:Slc5a7
|
UTSW |
17 |
54,600,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4170:Slc5a7
|
UTSW |
17 |
54,583,886 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4614:Slc5a7
|
UTSW |
17 |
54,583,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4785:Slc5a7
|
UTSW |
17 |
54,585,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4793:Slc5a7
|
UTSW |
17 |
54,588,822 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4828:Slc5a7
|
UTSW |
17 |
54,583,827 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4847:Slc5a7
|
UTSW |
17 |
54,584,168 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4879:Slc5a7
|
UTSW |
17 |
54,583,679 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5152:Slc5a7
|
UTSW |
17 |
54,585,861 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5171:Slc5a7
|
UTSW |
17 |
54,583,704 (GRCm39) |
missense |
probably benign |
|
|
R5196:Slc5a7
|
UTSW |
17 |
54,588,750 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5935:Slc5a7
|
UTSW |
17 |
54,583,972 (GRCm39) |
nonsense |
probably null |
|
|
R6307:Slc5a7
|
UTSW |
17 |
54,584,006 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6354:Slc5a7
|
UTSW |
17 |
54,584,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6357:Slc5a7
|
UTSW |
17 |
54,594,389 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6395:Slc5a7
|
UTSW |
17 |
54,585,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6500:Slc5a7
|
UTSW |
17 |
54,591,231 (GRCm39) |
missense |
probably benign |
|
|
R6643:Slc5a7
|
UTSW |
17 |
54,583,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7062:Slc5a7
|
UTSW |
17 |
54,600,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7405:Slc5a7
|
UTSW |
17 |
54,604,161 (GRCm39) |
missense |
probably benign |
|
|
R7470:Slc5a7
|
UTSW |
17 |
54,583,990 (GRCm39) |
nonsense |
probably null |
|
|
R7477:Slc5a7
|
UTSW |
17 |
54,588,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7942:Slc5a7
|
UTSW |
17 |
54,583,709 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8348:Slc5a7
|
UTSW |
17 |
54,583,655 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8928:Slc5a7
|
UTSW |
17 |
54,591,258 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9082:Slc5a7
|
UTSW |
17 |
54,604,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9192:Slc5a7
|
UTSW |
17 |
54,594,389 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9359:Slc5a7
|
UTSW |
17 |
54,583,669 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9403:Slc5a7
|
UTSW |
17 |
54,583,669 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9722:Slc5a7
|
UTSW |
17 |
54,603,985 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCCCCATAAGTGTTGGTTC -3'
(R):5'- CCCCTGTACATTCAGAACAAGG -3'
Sequencing Primer
(F):5'- GGTTCCTTTGATGAAGAGTACACAG -3'
(R):5'- TGGTAACCATAAGCCTTTGTACAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation