Incidental Mutation 'R4374:Fktn'
| ID |
325023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fktn
|
| Ensembl Gene |
ENSMUSG00000028414 |
| Gene Name |
fukutin |
| Synonyms |
Fcmd, Fukutin |
| MMRRC Submission |
041118-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4374 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
53713745-53765785 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53720201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 72
(S72P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061771]
[ENSMUST00000107638]
[ENSMUST00000128667]
[ENSMUST00000221657]
[ENSMUST00000222290]
|
| AlphaFold |
Q8R507 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061771
AA Change: S33P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000061489
Gene: ENSMUSG00000028414
AA Change: S33P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
28 |
N/A |
INTRINSIC |
|
Pfam:LicD
|
288 |
393 |
2.4e-10 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000107638
AA Change: S33P
|
| SMART Domains |
Protein: ENSMUSP00000138774
Gene: ENSMUSG00000028414
AA Change: S33P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
28 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128667
AA Change: S33P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114699
Gene: ENSMUSG00000028414
AA Change: S33P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
28 |
N/A |
INTRINSIC |
|
Pfam:LicD
|
288 |
393 |
2.4e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158996
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221657
AA Change: S72P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000222290
AA Change: S33P
|
| Meta Mutation Damage Score |
0.1887 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous null mice die by E9.5. Embryos exhibit diverse phenotypes such as growth retardation, folding of the egg cylinder, leakage of maternal red blood cells into the yolk sac cavity, increased number of apoptotic cells in the ectoderm, and thin and breached basement membranes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
A |
G |
7: 78,973,278 (GRCm39) |
M86V |
probably benign |
Het |
| Acin1 |
C |
A |
14: 54,891,351 (GRCm39) |
|
probably benign |
Het |
| Aebp2 |
T |
A |
6: 140,599,984 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,258,732 (GRCm39) |
E452G |
probably damaging |
Het |
| Amz1 |
T |
C |
5: 140,738,194 (GRCm39) |
S184P |
possibly damaging |
Het |
| Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,875,986 (GRCm39) |
L295* |
probably null |
Het |
| Cd209c |
T |
C |
8: 4,004,635 (GRCm39) |
|
noncoding transcript |
Het |
| Cpsf7 |
A |
T |
19: 10,517,001 (GRCm39) |
I368F |
probably damaging |
Het |
| Csf1r |
G |
A |
18: 61,252,078 (GRCm39) |
C520Y |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,867,498 (GRCm39) |
D235G |
probably benign |
Het |
| Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
C |
A |
3: 53,452,923 (GRCm39) |
V2189F |
possibly damaging |
Het |
| Gm10845 |
G |
T |
14: 80,100,563 (GRCm39) |
|
noncoding transcript |
Het |
| Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,111,513 (GRCm39) |
M2255V |
probably benign |
Het |
| Lrsam1 |
G |
T |
2: 32,845,203 (GRCm39) |
T104K |
possibly damaging |
Het |
| Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
| Myo7a |
G |
A |
7: 97,751,881 (GRCm39) |
T54M |
probably damaging |
Het |
| Or52ae7 |
T |
C |
7: 103,119,278 (GRCm39) |
S11P |
probably damaging |
Het |
| Or5k15 |
A |
C |
16: 58,710,242 (GRCm39) |
C114G |
probably benign |
Het |
| Osbpl8 |
T |
A |
10: 111,105,280 (GRCm39) |
I245N |
possibly damaging |
Het |
| Pfkp |
A |
G |
13: 6,671,025 (GRCm39) |
S135P |
probably damaging |
Het |
| Phf20l1 |
C |
T |
15: 66,476,686 (GRCm39) |
T260I |
possibly damaging |
Het |
| Pole |
T |
A |
5: 110,485,071 (GRCm39) |
I395K |
possibly damaging |
Het |
| Ppp6r2 |
T |
G |
15: 89,149,361 (GRCm39) |
C216W |
probably damaging |
Het |
| Pramel7 |
C |
T |
2: 87,320,415 (GRCm39) |
A293T |
probably benign |
Het |
| Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
| Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
T |
C |
18: 78,903,137 (GRCm39) |
R177G |
probably damaging |
Het |
| Sh2b3 |
G |
T |
5: 121,966,549 (GRCm39) |
|
probably benign |
Het |
| Tbc1d30 |
A |
G |
10: 121,130,617 (GRCm39) |
F271S |
probably damaging |
Het |
| Tpo |
T |
C |
12: 30,153,151 (GRCm39) |
E401G |
possibly damaging |
Het |
| Zdhhc13 |
T |
C |
7: 48,458,589 (GRCm39) |
Y308H |
probably damaging |
Het |
| Zfp112 |
C |
T |
7: 23,825,798 (GRCm39) |
H589Y |
probably damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
probably damaging |
Het |
|
| Other mutations in Fktn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00468:Fktn
|
APN |
4 |
53,734,866 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL00562:Fktn
|
APN |
4 |
53,747,007 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00563:Fktn
|
APN |
4 |
53,747,007 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00972:Fktn
|
APN |
4 |
53,734,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01025:Fktn
|
APN |
4 |
53,737,568 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02329:Fktn
|
APN |
4 |
53,720,181 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL03149:Fktn
|
APN |
4 |
53,744,653 (GRCm39) |
missense |
probably benign |
|
|
IGL03310:Fktn
|
APN |
4 |
53,720,120 (GRCm39) |
nonsense |
probably null |
|
|
beijing
|
UTSW |
4 |
53,734,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0257:Fktn
|
UTSW |
4 |
53,734,898 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0311:Fktn
|
UTSW |
4 |
53,744,620 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1368:Fktn
|
UTSW |
4 |
53,734,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1500:Fktn
|
UTSW |
4 |
53,735,065 (GRCm39) |
missense |
probably benign |
|
|
R1654:Fktn
|
UTSW |
4 |
53,761,220 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1757:Fktn
|
UTSW |
4 |
53,747,003 (GRCm39) |
splice site |
probably benign |
|
|
R2007:Fktn
|
UTSW |
4 |
53,735,099 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4308:Fktn
|
UTSW |
4 |
53,724,617 (GRCm39) |
intron |
probably benign |
|
|
R4798:Fktn
|
UTSW |
4 |
53,744,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5563:Fktn
|
UTSW |
4 |
53,761,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5913:Fktn
|
UTSW |
4 |
53,735,035 (GRCm39) |
nonsense |
probably null |
|
|
R5997:Fktn
|
UTSW |
4 |
53,735,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6227:Fktn
|
UTSW |
4 |
53,731,136 (GRCm39) |
missense |
probably benign |
|
|
R6942:Fktn
|
UTSW |
4 |
53,735,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7832:Fktn
|
UTSW |
4 |
53,734,859 (GRCm39) |
missense |
probably benign |
|
|
R8819:Fktn
|
UTSW |
4 |
53,735,001 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8820:Fktn
|
UTSW |
4 |
53,735,001 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9082:Fktn
|
UTSW |
4 |
53,720,010 (GRCm39) |
missense |
unknown |
|
|
R9142:Fktn
|
UTSW |
4 |
53,734,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9237:Fktn
|
UTSW |
4 |
53,734,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9238:Fktn
|
UTSW |
4 |
53,734,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9240:Fktn
|
UTSW |
4 |
53,734,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9241:Fktn
|
UTSW |
4 |
53,734,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9242:Fktn
|
UTSW |
4 |
53,734,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9243:Fktn
|
UTSW |
4 |
53,734,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9256:Fktn
|
UTSW |
4 |
53,744,653 (GRCm39) |
missense |
probably benign |
|
|
R9360:Fktn
|
UTSW |
4 |
53,734,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9361:Fktn
|
UTSW |
4 |
53,734,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9363:Fktn
|
UTSW |
4 |
53,734,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9418:Fktn
|
UTSW |
4 |
53,734,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9420:Fktn
|
UTSW |
4 |
53,734,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9421:Fktn
|
UTSW |
4 |
53,734,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9431:Fktn
|
UTSW |
4 |
53,734,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9634:Fktn
|
UTSW |
4 |
53,761,230 (GRCm39) |
missense |
probably benign |
|
|
R9653:Fktn
|
UTSW |
4 |
53,731,273 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9798:Fktn
|
UTSW |
4 |
53,747,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGTCACAGGAAACAAGATTC -3'
(R):5'- TTCCCTCAAACAGCATCAAGGG -3'
Sequencing Primer
(F):5'- GGTCACAGGAAACAAGATTCTGTTTC -3'
(R):5'- AGCATCAAGGGTAAGTTACACTAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation