Incidental Mutation 'IGL01970:Rft1'
ID |
182520 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rft1
|
Ensembl Gene |
ENSMUSG00000052395 |
Gene Name |
RFT1 homolog |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01970
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
30376317-30413274 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 30412492 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 518
(L518F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064153
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064230]
[ENSMUST00000226817]
[ENSMUST00000228686]
|
AlphaFold |
Q8C3B8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064230
AA Change: L518F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000064153 Gene: ENSMUSG00000052395 AA Change: L518F
Domain | Start | End | E-Value | Type |
Pfam:Rft-1
|
9 |
530 |
2.2e-140 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141379
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226805
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226817
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228686
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdk9 |
T |
C |
2: 32,598,063 (GRCm39) |
H280R |
possibly damaging |
Het |
Cenpt |
C |
T |
8: 106,571,748 (GRCm39) |
R461H |
probably damaging |
Het |
Cpa4 |
A |
G |
6: 30,579,645 (GRCm39) |
T151A |
probably benign |
Het |
Glrb |
A |
G |
3: 80,769,232 (GRCm39) |
I165T |
possibly damaging |
Het |
Gm17305 |
A |
T |
11: 69,255,646 (GRCm39) |
|
probably benign |
Het |
Kdm5b |
T |
A |
1: 134,528,465 (GRCm39) |
S391T |
probably damaging |
Het |
Klrg2 |
T |
C |
6: 38,613,383 (GRCm39) |
K207E |
probably damaging |
Het |
Krt1 |
T |
C |
15: 101,755,299 (GRCm39) |
I487V |
possibly damaging |
Het |
Krt27 |
A |
G |
11: 99,239,547 (GRCm39) |
L311P |
probably damaging |
Het |
Leng9 |
T |
C |
7: 4,151,326 (GRCm39) |
Y450C |
probably damaging |
Het |
Oacyl |
A |
T |
18: 65,882,785 (GRCm39) |
I627F |
possibly damaging |
Het |
Perm1 |
G |
T |
4: 156,302,118 (GRCm39) |
G221W |
probably damaging |
Het |
Sdk1 |
A |
T |
5: 142,071,437 (GRCm39) |
Q1209L |
possibly damaging |
Het |
Selenbp1 |
A |
G |
3: 94,844,313 (GRCm39) |
S57G |
probably benign |
Het |
Sema5a |
T |
C |
15: 32,686,792 (GRCm39) |
M968T |
probably benign |
Het |
Slc16a3 |
G |
A |
11: 120,847,864 (GRCm39) |
V351M |
probably damaging |
Het |
Sorbs2 |
G |
A |
8: 46,198,840 (GRCm39) |
V73I |
probably damaging |
Het |
Specc1l |
T |
A |
10: 75,081,595 (GRCm39) |
D347E |
probably damaging |
Het |
Tas2r116 |
A |
C |
6: 132,832,632 (GRCm39) |
T78P |
probably benign |
Het |
Tpm3 |
A |
G |
3: 89,997,135 (GRCm39) |
E224G |
probably damaging |
Het |
Trnau1ap |
T |
C |
4: 132,041,298 (GRCm39) |
|
probably benign |
Het |
Vmn2r17 |
T |
A |
5: 109,575,813 (GRCm39) |
M228K |
probably damaging |
Het |
Vnn1 |
T |
C |
10: 23,773,300 (GRCm39) |
I109T |
probably benign |
Het |
Wee1 |
C |
A |
7: 109,738,457 (GRCm39) |
H523Q |
probably damaging |
Het |
Xpr1 |
T |
C |
1: 155,165,980 (GRCm39) |
N524S |
probably benign |
Het |
|
Other mutations in Rft1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01625:Rft1
|
APN |
14 |
30,398,853 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01642:Rft1
|
APN |
14 |
30,398,825 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01654:Rft1
|
APN |
14 |
30,398,837 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02403:Rft1
|
APN |
14 |
30,382,278 (GRCm39) |
splice site |
probably benign |
|
IGL02928:Rft1
|
APN |
14 |
30,385,072 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL03186:Rft1
|
APN |
14 |
30,380,306 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03286:Rft1
|
APN |
14 |
30,383,323 (GRCm39) |
missense |
probably benign |
0.00 |
R0276:Rft1
|
UTSW |
14 |
30,412,540 (GRCm39) |
missense |
probably benign |
0.28 |
R0879:Rft1
|
UTSW |
14 |
30,404,705 (GRCm39) |
splice site |
probably benign |
|
R1491:Rft1
|
UTSW |
14 |
30,388,744 (GRCm39) |
nonsense |
probably null |
|
R2423:Rft1
|
UTSW |
14 |
30,388,724 (GRCm39) |
missense |
possibly damaging |
0.49 |
R3693:Rft1
|
UTSW |
14 |
30,412,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R4543:Rft1
|
UTSW |
14 |
30,383,290 (GRCm39) |
missense |
probably benign |
0.24 |
R4611:Rft1
|
UTSW |
14 |
30,411,747 (GRCm39) |
missense |
probably damaging |
0.98 |
R4878:Rft1
|
UTSW |
14 |
30,399,761 (GRCm39) |
missense |
probably benign |
0.04 |
R5256:Rft1
|
UTSW |
14 |
30,383,243 (GRCm39) |
missense |
probably benign |
0.03 |
R5382:Rft1
|
UTSW |
14 |
30,388,739 (GRCm39) |
missense |
probably benign |
0.04 |
R5719:Rft1
|
UTSW |
14 |
30,385,183 (GRCm39) |
intron |
probably benign |
|
R7200:Rft1
|
UTSW |
14 |
30,404,814 (GRCm39) |
critical splice donor site |
probably null |
|
R7652:Rft1
|
UTSW |
14 |
30,399,773 (GRCm39) |
missense |
probably benign |
0.15 |
R7657:Rft1
|
UTSW |
14 |
30,388,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R7851:Rft1
|
UTSW |
14 |
30,412,540 (GRCm39) |
missense |
probably benign |
0.00 |
R8341:Rft1
|
UTSW |
14 |
30,411,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777:Rft1
|
UTSW |
14 |
30,382,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777-TAIL:Rft1
|
UTSW |
14 |
30,382,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R9288:Rft1
|
UTSW |
14 |
30,383,415 (GRCm39) |
nonsense |
probably null |
|
R9301:Rft1
|
UTSW |
14 |
30,398,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R9427:Rft1
|
UTSW |
14 |
30,411,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R9656:Rft1
|
UTSW |
14 |
30,404,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-05-07 |