Incidental Mutation 'R2423:Rft1'
| ID |
249452 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rft1
|
| Ensembl Gene |
ENSMUSG00000052395 |
| Gene Name |
RFT1 homolog |
| Synonyms |
|
| MMRRC Submission |
040385-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2423 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30376317-30413274 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30388724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 216
(L216P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064230]
[ENSMUST00000226817]
[ENSMUST00000228686]
|
| AlphaFold |
Q8C3B8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064230
AA Change: L216P
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000064153
Gene: ENSMUSG00000052395
AA Change: L216P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rft-1
|
9 |
530 |
2.2e-140 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131097
AA Change: L216P
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120407
Gene: ENSMUSG00000052395
AA Change: L216P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rft-1
|
10 |
279 |
4.1e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143534
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143923
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155689
AA Change: L216P
PolyPhen 2
Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000122990
Gene: ENSMUSG00000052395
AA Change: L216P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rft-1
|
10 |
378 |
1.2e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226817
AA Change: L216P
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227338
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228686
AA Change: L216P
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228262
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amer2 |
T |
C |
14: 60,616,656 (GRCm39) |
S284P |
possibly damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,462,532 (GRCm39) |
V614A |
probably benign |
Het |
| Arhgap9 |
A |
T |
10: 127,162,993 (GRCm39) |
|
probably null |
Het |
| Brf1 |
G |
A |
12: 112,963,819 (GRCm39) |
A53V |
probably benign |
Het |
| Cyp1a2 |
C |
T |
9: 57,587,232 (GRCm39) |
R353Q |
probably damaging |
Het |
| Deup1 |
G |
T |
9: 15,503,754 (GRCm39) |
S269* |
probably null |
Het |
| F11r |
T |
A |
1: 171,289,191 (GRCm39) |
Y218N |
possibly damaging |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Mapkbp1 |
A |
T |
2: 119,855,071 (GRCm39) |
E1430V |
probably benign |
Het |
| Mga |
A |
G |
2: 119,795,274 (GRCm39) |
K2986R |
probably damaging |
Het |
| Myo9b |
G |
T |
8: 71,780,584 (GRCm39) |
V494L |
probably damaging |
Het |
| Nbea |
G |
A |
3: 55,992,727 (GRCm39) |
T293I |
probably damaging |
Het |
| Neto2 |
C |
T |
8: 86,396,396 (GRCm39) |
R83Q |
probably damaging |
Het |
| Ocm |
A |
T |
5: 143,961,388 (GRCm39) |
|
probably null |
Het |
| Or52z14 |
C |
T |
7: 103,253,241 (GRCm39) |
R127C |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,140,477 (GRCm39) |
I702T |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rbbp8nl |
A |
T |
2: 179,922,764 (GRCm39) |
S210T |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,813,774 (GRCm39) |
I340F |
probably benign |
Het |
| Slc26a10 |
T |
A |
10: 127,015,606 (GRCm39) |
|
probably null |
Het |
| Slc34a1 |
G |
A |
13: 55,556,865 (GRCm39) |
A235T |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 100,010,772 (GRCm39) |
T2089A |
probably benign |
Het |
| Srek1 |
G |
C |
13: 103,889,536 (GRCm39) |
S260* |
probably null |
Het |
| Sspo |
T |
C |
6: 48,430,989 (GRCm39) |
V624A |
probably benign |
Het |
| Tapt1 |
T |
C |
5: 44,349,795 (GRCm39) |
I251V |
probably benign |
Het |
| Tmem248 |
T |
C |
5: 130,258,403 (GRCm39) |
I32T |
probably damaging |
Het |
| Tnk1 |
T |
G |
11: 69,746,587 (GRCm39) |
T209P |
probably damaging |
Het |
| Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
| Trp53tg5 |
T |
A |
2: 164,313,250 (GRCm39) |
R142* |
probably null |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vldlr |
C |
T |
19: 27,213,688 (GRCm39) |
T125I |
possibly damaging |
Het |
| Vps8 |
A |
G |
16: 21,378,087 (GRCm39) |
T1033A |
probably benign |
Het |
| Wiz |
A |
C |
17: 32,580,859 (GRCm39) |
H197Q |
probably damaging |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTTAGAGCCTATGCACAGGAG -3'
(R):5'- ACCTAGTATGTGGCAAGCACTC -3'
Sequencing Primer
(F):5'- AGGACACTTTTATGCCTTGATTGACC -3'
(R):5'- TGTGGCAAGCACTCAATAAATAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation