Incidental Mutation 'IGL03286:Rft1'
| ID |
415724 |
| 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 # |
IGL03286
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
30376317-30413274 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30383323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 121
(T121I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064230]
[ENSMUST00000226817]
[ENSMUST00000228686]
|
| AlphaFold |
Q8C3B8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064230
AA Change: T121I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000064153
Gene: ENSMUSG00000052395
AA Change: T121I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rft-1
|
9 |
530 |
2.2e-140 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131097
AA Change: T121I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120407
Gene: ENSMUSG00000052395
AA Change: T121I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rft-1
|
10 |
279 |
4.1e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133573
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143534
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143923
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155689
AA Change: T121I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122990
Gene: ENSMUSG00000052395
AA Change: T121I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rft-1
|
10 |
378 |
1.2e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226817
AA Change: T121I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228686
AA Change: T121I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228211
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228262
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
G |
A |
1: 58,088,543 (GRCm39) |
G110S |
probably benign |
Het |
| Arhgap32 |
T |
C |
9: 32,170,816 (GRCm39) |
S1548P |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,005,397 (GRCm39) |
D147G |
probably benign |
Het |
| Calcoco2 |
A |
G |
11: 95,994,098 (GRCm39) |
V116A |
possibly damaging |
Het |
| Chd5 |
A |
T |
4: 152,469,952 (GRCm39) |
M1842L |
probably benign |
Het |
| Comt |
T |
C |
16: 18,230,490 (GRCm39) |
D73G |
probably damaging |
Het |
| Ctnna1 |
A |
G |
18: 35,308,206 (GRCm39) |
I175M |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,060,068 (GRCm39) |
Y2839N |
probably damaging |
Het |
| Dph7 |
T |
A |
2: 24,856,628 (GRCm39) |
H193Q |
probably damaging |
Het |
| Eif2b5 |
A |
G |
16: 20,321,012 (GRCm39) |
D258G |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,826,762 (GRCm39) |
D630G |
probably damaging |
Het |
| Ext2 |
C |
T |
2: 93,537,617 (GRCm39) |
V590M |
probably damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,908,982 (GRCm39) |
|
probably null |
Het |
| Gm13272 |
A |
G |
4: 88,698,586 (GRCm39) |
Q167R |
probably benign |
Het |
| Gm21834 |
A |
G |
17: 58,048,922 (GRCm39) |
V98A |
possibly damaging |
Het |
| Grid1 |
T |
A |
14: 35,242,642 (GRCm39) |
|
probably benign |
Het |
| H2-DMa |
T |
A |
17: 34,356,083 (GRCm39) |
|
probably null |
Het |
| Ighv5-17 |
T |
G |
12: 113,822,797 (GRCm39) |
E108A |
possibly damaging |
Het |
| Invs |
A |
G |
4: 48,382,261 (GRCm39) |
T144A |
probably benign |
Het |
| Ipo9 |
A |
G |
1: 135,334,816 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
A |
T |
2: 79,119,706 (GRCm39) |
Y504F |
probably damaging |
Het |
| Krt5 |
A |
G |
15: 101,615,983 (GRCm39) |
F544S |
unknown |
Het |
| Larp4 |
A |
G |
15: 99,883,967 (GRCm39) |
Y67C |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 87,990,095 (GRCm39) |
M261T |
possibly damaging |
Het |
| Nav1 |
A |
T |
1: 135,382,274 (GRCm39) |
C1367S |
probably benign |
Het |
| Nox4 |
T |
A |
7: 87,019,349 (GRCm39) |
|
probably benign |
Het |
| Noxa1 |
A |
G |
2: 24,975,732 (GRCm39) |
|
probably null |
Het |
| Or5b98 |
A |
C |
19: 12,931,532 (GRCm39) |
Y193S |
probably benign |
Het |
| Or6p1 |
A |
C |
1: 174,258,743 (GRCm39) |
I250L |
probably benign |
Het |
| Pde4d |
T |
A |
13: 110,091,040 (GRCm39) |
|
probably benign |
Het |
| Pdlim2 |
C |
T |
14: 70,411,925 (GRCm39) |
G36S |
possibly damaging |
Het |
| Plekhm2 |
A |
G |
4: 141,361,658 (GRCm39) |
S262P |
possibly damaging |
Het |
| Pnpla6 |
C |
A |
8: 3,581,473 (GRCm39) |
T582K |
probably damaging |
Het |
| Rap1b |
A |
T |
10: 117,654,480 (GRCm39) |
L120* |
probably null |
Het |
| Scn1a |
A |
G |
2: 66,107,920 (GRCm39) |
I1613T |
probably damaging |
Het |
| Slc47a2 |
T |
G |
11: 61,233,293 (GRCm39) |
E79A |
possibly damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,619,928 (GRCm39) |
I85V |
probably null |
Het |
| Slfn8 |
A |
T |
11: 82,904,294 (GRCm39) |
F365L |
probably damaging |
Het |
| Smcr8 |
T |
A |
11: 60,668,853 (GRCm39) |
|
probably benign |
Het |
| Sntb1 |
T |
C |
15: 55,655,442 (GRCm39) |
D258G |
possibly damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,332,858 (GRCm39) |
I520T |
probably damaging |
Het |
| Sptbn2 |
T |
C |
19: 4,797,860 (GRCm39) |
S1896P |
probably damaging |
Het |
| Sptlc3 |
G |
A |
2: 139,431,579 (GRCm39) |
G367D |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,881,283 (GRCm39) |
|
probably benign |
Het |
| Tars2 |
T |
C |
3: 95,662,067 (GRCm39) |
|
probably benign |
Het |
| Tchhl1 |
C |
T |
3: 93,378,430 (GRCm39) |
A378V |
probably benign |
Het |
| Tet3 |
A |
T |
6: 83,352,760 (GRCm39) |
F1012Y |
probably damaging |
Het |
| Tuba8 |
A |
G |
6: 121,199,913 (GRCm39) |
D199G |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,804,468 (GRCm39) |
T151S |
possibly damaging |
Het |
| Xirp2 |
T |
C |
2: 67,346,654 (GRCm39) |
I2965T |
probably damaging |
Het |
| Zfp688 |
T |
A |
7: 127,018,703 (GRCm39) |
M141L |
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 |
|
IGL01970:Rft1
|
APN |
14 |
30,412,492 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation