Incidental Mutation 'R4543:Rft1'
| ID |
333634 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rft1
|
| Ensembl Gene |
ENSMUSG00000052395 |
| Gene Name |
RFT1 homolog |
| Synonyms |
|
| MMRRC Submission |
041778-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4543 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30376317-30413274 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30383290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 110
(V110A)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064230]
[ENSMUST00000226817]
[ENSMUST00000228686]
|
| AlphaFold |
Q8C3B8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064230
AA Change: V110A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000064153
Gene: ENSMUSG00000052395
AA Change: V110A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rft-1
|
9 |
530 |
2.2e-140 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131097
AA Change: V110A
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120407
Gene: ENSMUSG00000052395
AA Change: V110A
| 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: V110A
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000122990
Gene: ENSMUSG00000052395
AA Change: V110A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rft-1
|
10 |
378 |
1.2e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226817
AA Change: V110A
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228686
AA Change: V110A
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228262
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228211
|
| Meta Mutation Damage Score |
0.1092 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
94% (44/47) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,789,749 (GRCm39) |
S500T |
probably damaging |
Het |
| Abhd3 |
T |
C |
18: 10,706,672 (GRCm39) |
D2G |
possibly damaging |
Het |
| Ablim1 |
C |
T |
19: 57,065,874 (GRCm39) |
R366H |
possibly damaging |
Het |
| Adgre1 |
T |
A |
17: 57,713,874 (GRCm39) |
H186Q |
probably benign |
Het |
| Ankmy1 |
G |
T |
1: 92,812,572 (GRCm39) |
A579E |
probably damaging |
Het |
| Ap2b1 |
C |
A |
11: 83,215,476 (GRCm39) |
T140K |
probably damaging |
Het |
| Arhgef28 |
T |
A |
13: 98,211,508 (GRCm39) |
E158D |
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,199,986 (GRCm39) |
F885L |
probably damaging |
Het |
| Barx2 |
A |
G |
9: 31,758,092 (GRCm39) |
L282S |
unknown |
Het |
| Catsper2 |
C |
T |
2: 121,237,890 (GRCm39) |
W163* |
probably null |
Het |
| Cep295 |
T |
C |
9: 15,246,549 (GRCm39) |
T588A |
possibly damaging |
Het |
| Chil3 |
T |
G |
3: 106,067,686 (GRCm39) |
K160Q |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,452,749 (GRCm39) |
Q578L |
probably damaging |
Het |
| Crp |
A |
C |
1: 172,526,304 (GRCm39) |
I130L |
probably benign |
Het |
| Dtwd2 |
C |
A |
18: 49,857,175 (GRCm39) |
|
probably null |
Het |
| Fads3 |
T |
C |
19: 10,019,175 (GRCm39) |
F27S |
possibly damaging |
Het |
| Gm3604 |
T |
C |
13: 62,517,970 (GRCm39) |
D109G |
probably benign |
Het |
| Gtf2ird1 |
A |
G |
5: 134,392,754 (GRCm39) |
|
probably null |
Het |
| H2-K2 |
C |
T |
17: 34,218,532 (GRCm39) |
|
probably null |
Het |
| Hdac5 |
T |
C |
11: 102,104,770 (GRCm39) |
|
probably benign |
Het |
| Il6st |
G |
A |
13: 112,617,993 (GRCm39) |
V136M |
probably damaging |
Het |
| Immt |
T |
C |
6: 71,828,762 (GRCm39) |
S106P |
probably damaging |
Het |
| Kat2b |
T |
C |
17: 53,960,168 (GRCm39) |
I492T |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,692,715 (GRCm39) |
F97S |
probably benign |
Het |
| Kdm4c |
A |
G |
4: 74,248,997 (GRCm39) |
I84V |
probably benign |
Het |
| Kif7 |
G |
A |
7: 79,357,296 (GRCm39) |
P637S |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,604,851 (GRCm39) |
I109K |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,998,929 (GRCm39) |
C619S |
probably damaging |
Het |
| Mgat4f |
T |
A |
1: 134,317,531 (GRCm39) |
M101K |
probably benign |
Het |
| Or8g51 |
A |
G |
9: 38,608,841 (GRCm39) |
S274P |
possibly damaging |
Het |
| Polq |
T |
C |
16: 36,881,147 (GRCm39) |
C1104R |
probably benign |
Het |
| Rbfox2 |
A |
T |
15: 77,190,568 (GRCm39) |
M59K |
probably benign |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,540,685 (GRCm39) |
V180D |
probably damaging |
Het |
| Sox21 |
CCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGCGGC |
CCAGCGGCGGCGGCGGCAGCGGC |
14: 118,472,548 (GRCm39) |
|
probably benign |
Het |
| Stap2 |
C |
T |
17: 56,304,604 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,582,041 (GRCm39) |
T419A |
probably benign |
Het |
| Tmprss11a |
G |
A |
5: 86,559,668 (GRCm39) |
Q375* |
probably null |
Het |
| Trav12-3 |
CTCTG |
CTCTGTCTG |
14: 53,859,693 (GRCm39) |
|
probably null |
Het |
| Vmn1r88 |
T |
A |
7: 12,911,907 (GRCm39) |
S88T |
possibly damaging |
Het |
| Zfp622 |
T |
A |
15: 25,991,623 (GRCm39) |
D143E |
possibly 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 |
|
|
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 |
|
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'- TCCTACTAACAGAGTCTTACTGTGG -3'
(R):5'- AGCTTTCTGTAGAACAGCACAG -3'
Sequencing Primer
(F):5'- TCATTCAGTATTACTGT -3'
(R):5'- TGGACTACATGGTAAGACCCTGTC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation