Incidental Mutation 'IGL01625:Rft1'
| ID |
92710 |
| 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 # |
IGL01625
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
30376317-30413274 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30398853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 274
(D274E)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064230]
[ENSMUST00000226817]
[ENSMUST00000228686]
|
| AlphaFold |
Q8C3B8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064230
AA Change: D274E
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000064153
Gene: ENSMUSG00000052395
AA Change: D274E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rft-1
|
9 |
530 |
2.2e-140 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131097
AA Change: D274E
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120407
Gene: ENSMUSG00000052395
AA Change: D274E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rft-1
|
10 |
279 |
4.1e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155689
AA Change: D274E
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000122990
Gene: ENSMUSG00000052395
AA Change: D274E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rft-1
|
10 |
378 |
1.2e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226817
AA Change: D274E
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228686
AA Change: D274E
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,979,957 (GRCm39) |
H37Q |
possibly damaging |
Het |
| Akr1c19 |
T |
A |
13: 4,283,816 (GRCm39) |
I16N |
probably damaging |
Het |
| Arpc1b |
T |
C |
5: 145,058,555 (GRCm39) |
|
probably null |
Het |
| Bzw1 |
A |
G |
1: 58,440,599 (GRCm39) |
T191A |
probably benign |
Het |
| Cacna1h |
G |
A |
17: 25,604,686 (GRCm39) |
T1209I |
possibly damaging |
Het |
| Cacna1h |
T |
C |
17: 25,602,459 (GRCm39) |
D1523G |
probably damaging |
Het |
| Cdc20b |
T |
C |
13: 113,196,319 (GRCm39) |
L148P |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,311,085 (GRCm39) |
F3147L |
possibly damaging |
Het |
| Dagla |
A |
G |
19: 10,228,566 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,935,471 (GRCm39) |
N1983D |
probably damaging |
Het |
| Fbxw10 |
G |
A |
11: 62,750,853 (GRCm39) |
D479N |
probably damaging |
Het |
| Fer |
A |
T |
17: 64,344,621 (GRCm39) |
Q630L |
probably damaging |
Het |
| Gbp5 |
A |
G |
3: 142,208,789 (GRCm39) |
N111D |
probably damaging |
Het |
| Gm8127 |
T |
G |
14: 43,148,520 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,428,409 (GRCm39) |
N814K |
probably damaging |
Het |
| Iba57 |
G |
A |
11: 59,049,775 (GRCm39) |
R191W |
probably damaging |
Het |
| Itgae |
C |
A |
11: 73,010,263 (GRCm39) |
F584L |
probably benign |
Het |
| Kdm5b |
A |
G |
1: 134,545,706 (GRCm39) |
K956E |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,575,918 (GRCm39) |
|
probably benign |
Het |
| Mybpc2 |
T |
C |
7: 44,166,337 (GRCm39) |
K218E |
possibly damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,333,832 (GRCm39) |
S49P |
probably damaging |
Het |
| Prss3b |
A |
C |
6: 41,009,882 (GRCm39) |
S151A |
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,572,460 (GRCm39) |
D889G |
probably benign |
Het |
| Rbpjl |
A |
G |
2: 164,249,705 (GRCm39) |
K102R |
possibly damaging |
Het |
| Retreg2 |
A |
G |
1: 75,121,359 (GRCm39) |
|
probably benign |
Het |
| Rfc4 |
A |
T |
16: 22,934,573 (GRCm39) |
L149Q |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,045,457 (GRCm39) |
S143R |
possibly damaging |
Het |
| Rptn |
T |
A |
3: 93,305,201 (GRCm39) |
S845T |
probably benign |
Het |
| Slamf8 |
C |
A |
1: 172,410,049 (GRCm39) |
D267Y |
probably damaging |
Het |
| Smoc2 |
C |
T |
17: 14,545,876 (GRCm39) |
S55L |
probably damaging |
Het |
| Sptan1 |
C |
T |
2: 29,916,126 (GRCm39) |
A2038V |
probably damaging |
Het |
| Stx17 |
C |
A |
4: 48,181,526 (GRCm39) |
P210T |
probably damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,224,601 (GRCm39) |
Y317H |
probably benign |
Het |
| Tenm4 |
C |
A |
7: 96,534,565 (GRCm39) |
T1737N |
probably damaging |
Het |
| Tesk2 |
T |
C |
4: 116,628,998 (GRCm39) |
F116L |
possibly damaging |
Het |
| Tln2 |
T |
C |
9: 67,277,905 (GRCm39) |
S370G |
probably damaging |
Het |
| Tm6sf2 |
G |
T |
8: 70,528,733 (GRCm39) |
G162C |
probably null |
Het |
| Togaram2 |
A |
C |
17: 72,021,693 (GRCm39) |
E718D |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,578,327 (GRCm39) |
F15862V |
probably damaging |
Het |
| Uba6 |
T |
A |
5: 86,268,388 (GRCm39) |
R916* |
probably null |
Het |
| Umodl1 |
A |
G |
17: 31,215,229 (GRCm39) |
M1018V |
probably benign |
Het |
| Wdr26 |
G |
A |
1: 181,019,381 (GRCm39) |
T332I |
possibly damaging |
Het |
| Xdh |
A |
T |
17: 74,223,781 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Rft1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation