Incidental Mutation 'R1130:Rxylt1'
| ID |
98040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rxylt1
|
| Ensembl Gene |
ENSMUSG00000034620 |
| Gene Name |
ribitol xylosyltransferase 1 |
| Synonyms |
6330415D21Rik, Tmem5 |
| MMRRC Submission |
039203-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1130 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
121916844-121933271 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121931847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 109
(I109V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038772]
[ENSMUST00000140299]
|
| AlphaFold |
Q8VDX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038772
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135083
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140299
AA Change: I109V
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119308
Gene: ENSMUSG00000034620
AA Change: I109V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141057
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
T |
15: 81,943,561 (GRCm39) |
H58Y |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Armc2 |
T |
C |
10: 41,887,830 (GRCm39) |
D51G |
possibly damaging |
Het |
| Aspm |
A |
T |
1: 139,405,572 (GRCm39) |
K1486N |
possibly damaging |
Het |
| Aurka |
A |
T |
2: 172,199,178 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
T |
C |
1: 172,373,264 (GRCm39) |
Y534H |
probably damaging |
Het |
| Cldn20 |
T |
C |
17: 3,583,243 (GRCm39) |
Y139H |
probably damaging |
Het |
| Defb19 |
C |
A |
2: 152,418,109 (GRCm39) |
E76* |
probably null |
Het |
| Fcho2 |
A |
T |
13: 98,884,797 (GRCm39) |
D423E |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 82,834,865 (GRCm39) |
|
probably null |
Het |
| Gaa |
C |
T |
11: 119,165,509 (GRCm39) |
T333M |
probably damaging |
Het |
| Gm9945 |
T |
A |
11: 53,371,345 (GRCm39) |
|
probably benign |
Het |
| Gml2 |
G |
A |
15: 74,693,195 (GRCm39) |
C66Y |
probably damaging |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Kcnh2 |
G |
A |
5: 24,536,823 (GRCm39) |
R254* |
probably null |
Het |
| Megf10 |
T |
C |
18: 57,395,078 (GRCm39) |
V480A |
probably benign |
Het |
| Nrde2 |
A |
T |
12: 100,091,929 (GRCm39) |
M1152K |
probably damaging |
Het |
| Ociad1 |
T |
C |
5: 73,451,675 (GRCm39) |
S15P |
probably benign |
Het |
| Ptprj |
A |
G |
2: 90,283,765 (GRCm39) |
V803A |
probably damaging |
Het |
| Skint7 |
T |
C |
4: 111,841,355 (GRCm39) |
I265T |
probably benign |
Het |
| Srsf2 |
A |
G |
11: 116,743,009 (GRCm39) |
|
probably benign |
Het |
| Tac2 |
A |
G |
10: 127,565,371 (GRCm39) |
N108D |
possibly damaging |
Het |
|
| Other mutations in Rxylt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02170:Rxylt1
|
APN |
10 |
121,930,548 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0393:Rxylt1
|
UTSW |
10 |
121,931,841 (GRCm39) |
splice site |
probably benign |
|
|
R1521:Rxylt1
|
UTSW |
10 |
121,926,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1757:Rxylt1
|
UTSW |
10 |
121,924,920 (GRCm39) |
missense |
probably benign |
|
|
R3806:Rxylt1
|
UTSW |
10 |
121,917,514 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6633:Rxylt1
|
UTSW |
10 |
121,932,958 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7237:Rxylt1
|
UTSW |
10 |
121,917,523 (GRCm39) |
nonsense |
probably null |
|
|
R7261:Rxylt1
|
UTSW |
10 |
121,924,822 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7522:Rxylt1
|
UTSW |
10 |
121,917,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7630:Rxylt1
|
UTSW |
10 |
121,931,865 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8866:Rxylt1
|
UTSW |
10 |
121,924,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9801:Rxylt1
|
UTSW |
10 |
121,926,608 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGAGAGCCTTCCACAGACATGC -3'
(R):5'- AGTCCGCTTTGGAGAGTGAAGAATG -3'
Sequencing Primer
(F):5'- ttaaacaaagtctacattgaattgcc -3'
(R):5'- CTTTGGAGAGTGAAGAATGGAATCC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation