Incidental Mutation 'IGL02145:Morf4l1'
| ID |
281701 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Morf4l1
|
| Ensembl Gene |
ENSMUSG00000062270 |
| Gene Name |
mortality factor 4 like 1 |
| Synonyms |
TEG-189, Tex189, MORFRG15, MRG15 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02145
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
89973718-89996827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89975848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 315
(Y315H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085248]
[ENSMUST00000169860]
[ENSMUST00000191189]
[ENSMUST00000191353]
[ENSMUST00000190345]
|
| AlphaFold |
P60762 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085248
AA Change: Y315H
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000082346
Gene: ENSMUSG00000062270
AA Change: Y315H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tudor-knot
|
11 |
53 |
8.9e-11 |
PFAM |
|
Blast:CHROMO
|
83 |
117 |
4e-6 |
BLAST |
|
Pfam:MRG
|
174 |
348 |
3.5e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169860
AA Change: Y276H
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000132020
Gene: ENSMUSG00000062270
AA Change: Y276H
| Domain | Start | End | E-Value | Type |
|---|
|
CHROMO
|
10 |
78 |
1.8e-9 |
SMART |
|
Pfam:MRG
|
127 |
311 |
2.8e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181611
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187771
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188905
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189089
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189420
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191189
AA Change: Y249H
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000140118
Gene: ENSMUSG00000062270
AA Change: Y249H
| Domain | Start | End | E-Value | Type |
|---|
|
CHROMO
|
10 |
78 |
1.1e-11 |
SMART |
|
Pfam:MRG
|
100 |
284 |
1.1e-56 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190377
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191353
|
| SMART Domains |
Protein: ENSMUSP00000140023
Gene: ENSMUSG00000062270
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tudor-knot
|
11 |
53 |
3.1e-8 |
PFAM |
|
Blast:CHROMO
|
82 |
116 |
2e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190345
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display perinatal lethality, cardiac hypertrophy, reduced alveolar space, decreased cell proliferation, congestion of the liver, lung, and spleen, skin edema, and thin skin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agt |
A |
G |
8: 125,291,187 (GRCm39) |
L40P |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,980,219 (GRCm39) |
I501T |
probably benign |
Het |
| Aldh2 |
A |
G |
5: 121,706,056 (GRCm39) |
*196Q |
probably null |
Het |
| Ankrd65 |
A |
G |
4: 155,875,848 (GRCm39) |
D23G |
possibly damaging |
Het |
| Anln |
A |
T |
9: 22,250,292 (GRCm39) |
|
probably null |
Het |
| Armc3 |
C |
T |
2: 19,301,671 (GRCm39) |
S663L |
possibly damaging |
Het |
| Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
| Cul5 |
A |
T |
9: 53,546,375 (GRCm39) |
|
probably benign |
Het |
| Cyba |
T |
C |
8: 123,151,796 (GRCm39) |
I134V |
probably damaging |
Het |
| Cybb |
T |
A |
X: 9,323,257 (GRCm39) |
Q93H |
probably damaging |
Het |
| Cyp4f37 |
G |
T |
17: 32,849,009 (GRCm39) |
K292N |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,281,981 (GRCm39) |
I2850V |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,485,367 (GRCm39) |
I118T |
unknown |
Het |
| Ercc6l |
G |
T |
X: 101,189,148 (GRCm39) |
P454T |
probably benign |
Het |
| Grxcr1 |
A |
G |
5: 68,267,821 (GRCm39) |
E190G |
probably damaging |
Het |
| Heatr3 |
C |
T |
8: 88,871,227 (GRCm39) |
R194C |
probably benign |
Het |
| Hspa12b |
C |
T |
2: 130,985,655 (GRCm39) |
|
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,642,777 (GRCm39) |
V644A |
probably damaging |
Het |
| Kif26a |
G |
A |
12: 112,143,409 (GRCm39) |
R1221H |
probably benign |
Het |
| Klra8 |
T |
C |
6: 130,102,199 (GRCm39) |
N79D |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,900,661 (GRCm39) |
I253T |
possibly damaging |
Het |
| Lamp5 |
T |
C |
2: 135,901,509 (GRCm39) |
V111A |
possibly damaging |
Het |
| Lmo7 |
T |
C |
14: 102,139,659 (GRCm39) |
S859P |
probably benign |
Het |
| Mgarp |
T |
C |
3: 51,296,453 (GRCm39) |
Q205R |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,433,486 (GRCm39) |
V1117E |
possibly damaging |
Het |
| Nipal1 |
A |
G |
5: 72,824,274 (GRCm39) |
D206G |
probably damaging |
Het |
| Notch3 |
A |
G |
17: 32,373,715 (GRCm39) |
S498P |
probably benign |
Het |
| Npepps |
A |
G |
11: 97,109,328 (GRCm39) |
|
probably null |
Het |
| Or14c46 |
C |
A |
7: 85,918,466 (GRCm39) |
C177F |
probably damaging |
Het |
| Or2ak6 |
T |
C |
11: 58,592,886 (GRCm39) |
Y120H |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,317,613 (GRCm39) |
H1278R |
probably damaging |
Het |
| Pprc1 |
C |
A |
19: 46,053,329 (GRCm39) |
|
probably benign |
Het |
| Rab8b |
A |
T |
9: 66,755,000 (GRCm39) |
|
probably benign |
Het |
| Ripor2 |
T |
A |
13: 24,901,554 (GRCm39) |
I875N |
probably damaging |
Het |
| Samd9l |
T |
C |
6: 3,374,105 (GRCm39) |
E1052G |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,520,569 (GRCm39) |
I569F |
probably damaging |
Het |
| Spata2l |
C |
T |
8: 123,960,770 (GRCm39) |
G173D |
possibly damaging |
Het |
| Stc2 |
T |
G |
11: 31,317,875 (GRCm39) |
|
probably benign |
Het |
| Tm6sf1 |
C |
A |
7: 81,513,000 (GRCm39) |
Y65* |
probably null |
Het |
| Tspan15 |
A |
G |
10: 62,029,751 (GRCm39) |
|
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,454 (GRCm39) |
Y179* |
probably null |
Het |
| Washc5 |
C |
A |
15: 59,241,060 (GRCm39) |
V92L |
probably benign |
Het |
| Wiz |
A |
G |
17: 32,575,893 (GRCm39) |
S838P |
probably benign |
Het |
| Zp2 |
T |
A |
7: 119,739,074 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Morf4l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03309:Morf4l1
|
APN |
9 |
89,985,798 (GRCm39) |
missense |
probably benign |
|
|
R0848:Morf4l1
|
UTSW |
9 |
89,982,502 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0893:Morf4l1
|
UTSW |
9 |
89,984,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1155:Morf4l1
|
UTSW |
9 |
89,976,557 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1765:Morf4l1
|
UTSW |
9 |
89,984,401 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1972:Morf4l1
|
UTSW |
9 |
89,977,267 (GRCm39) |
unclassified |
probably benign |
|
|
R3805:Morf4l1
|
UTSW |
9 |
89,977,196 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3806:Morf4l1
|
UTSW |
9 |
89,977,196 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3894:Morf4l1
|
UTSW |
9 |
89,976,501 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3895:Morf4l1
|
UTSW |
9 |
89,976,501 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5460:Morf4l1
|
UTSW |
9 |
89,977,183 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6884:Morf4l1
|
UTSW |
9 |
89,976,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7088:Morf4l1
|
UTSW |
9 |
89,979,433 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7869:Morf4l1
|
UTSW |
9 |
89,975,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7876:Morf4l1
|
UTSW |
9 |
89,975,859 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8155:Morf4l1
|
UTSW |
9 |
89,977,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8223:Morf4l1
|
UTSW |
9 |
89,979,475 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2015-04-16 |
Incidental Mutation