Incidental Mutation 'R3895:Morf4l1'
| ID |
310504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morf4l1
|
| Ensembl Gene |
ENSMUSG00000062270 |
| Gene Name |
mortality factor 4 like 1 |
| Synonyms |
TEG-189, Tex189, MORFRG15, MRG15 |
| MMRRC Submission |
040806-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3895 (G1)
|
| Quality Score |
189 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
89973718-89996827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89976501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 276
(F276I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085248]
[ENSMUST00000169860]
[ENSMUST00000191189]
[ENSMUST00000190345]
[ENSMUST00000191353]
|
| AlphaFold |
P60762 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085248
AA Change: F276I
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082346
Gene: ENSMUSG00000062270
AA Change: F276I
| 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: F237I
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000132020
Gene: ENSMUSG00000062270
AA Change: F237I
| 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 |
noncoding transcript
Transcript: ENSMUST00000190377
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191189
AA Change: F210I
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000140118
Gene: ENSMUSG00000062270
AA Change: F210I
| Domain | Start | End | E-Value | Type |
|---|
|
CHROMO
|
10 |
78 |
1.1e-11 |
SMART |
|
Pfam:MRG
|
100 |
284 |
1.1e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190345
|
| 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 |
|
| Meta Mutation Damage Score |
0.5531 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
96% (45/47) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
C |
2: 127,814,445 (GRCm39) |
|
probably benign |
Het |
| C6 |
T |
C |
15: 4,837,952 (GRCm39) |
V854A |
probably benign |
Het |
| Ccnd1 |
T |
C |
7: 144,491,631 (GRCm39) |
E136G |
probably damaging |
Het |
| CK137956 |
A |
T |
4: 127,840,441 (GRCm39) |
F422I |
probably benign |
Het |
| Csta1 |
T |
C |
16: 35,951,402 (GRCm39) |
T7A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,028,865 (GRCm39) |
E23G |
probably benign |
Het |
| Fbxo8 |
A |
T |
8: 57,044,556 (GRCm39) |
R286S |
probably damaging |
Het |
| Gm12258 |
T |
G |
11: 58,749,375 (GRCm39) |
Y183* |
probably null |
Het |
| Gvin-ps6 |
T |
A |
7: 106,022,621 (GRCm39) |
H127L |
probably damaging |
Het |
| Hectd3 |
A |
G |
4: 116,853,286 (GRCm39) |
D171G |
probably damaging |
Het |
| Hoxd11 |
C |
T |
2: 74,513,136 (GRCm39) |
R134W |
probably damaging |
Het |
| Ighg2c |
T |
C |
12: 113,251,278 (GRCm39) |
T246A |
unknown |
Het |
| Ints6 |
T |
C |
14: 62,934,060 (GRCm39) |
I816V |
probably damaging |
Het |
| Lrp4 |
G |
A |
2: 91,304,294 (GRCm39) |
G158S |
probably damaging |
Het |
| Mast1 |
G |
A |
8: 85,662,352 (GRCm39) |
P52L |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,899,388 (GRCm39) |
D2148G |
probably null |
Het |
| Med24 |
A |
G |
11: 98,597,214 (GRCm39) |
S889P |
probably benign |
Het |
| Mgam |
T |
A |
6: 40,736,054 (GRCm39) |
M851K |
probably damaging |
Het |
| Mkln1 |
T |
A |
6: 31,484,602 (GRCm39) |
L710H |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,461,863 (GRCm39) |
S574R |
probably damaging |
Het |
| Nol11 |
C |
A |
11: 107,059,173 (GRCm39) |
V644F |
probably damaging |
Het |
| Nusap1 |
C |
A |
2: 119,458,172 (GRCm39) |
Q103K |
possibly damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,893,912 (GRCm39) |
|
probably benign |
Het |
| Pcdh9 |
C |
T |
14: 94,124,974 (GRCm39) |
V399M |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,102,006 (GRCm39) |
S359P |
probably benign |
Het |
| Prg4 |
G |
C |
1: 150,330,510 (GRCm39) |
|
probably benign |
Het |
| Ptpn14 |
C |
T |
1: 189,582,743 (GRCm39) |
A530V |
probably benign |
Het |
| Rho |
A |
G |
6: 115,910,863 (GRCm39) |
Y136C |
probably damaging |
Het |
| Rps3 |
C |
T |
7: 99,129,103 (GRCm39) |
R173H |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,551,504 (GRCm39) |
N564D |
probably damaging |
Het |
| Sart3 |
G |
A |
5: 113,890,488 (GRCm39) |
R452* |
probably null |
Het |
| Sbf2 |
T |
C |
7: 110,046,298 (GRCm39) |
I300V |
probably damaging |
Het |
| Sgo2b |
A |
T |
8: 64,381,767 (GRCm39) |
V355E |
possibly damaging |
Het |
| Slc22a5 |
T |
C |
11: 53,756,651 (GRCm39) |
K553R |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,355,456 (GRCm39) |
V375A |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,516,804 (GRCm39) |
E28G |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,818,786 (GRCm39) |
K1292R |
probably damaging |
Het |
| Twnk |
A |
G |
19: 44,995,890 (GRCm39) |
T108A |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,840,805 (GRCm39) |
H15Q |
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,280,596 (GRCm39) |
S208P |
possibly damaging |
Het |
|
| Other mutations in Morf4l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02145:Morf4l1
|
APN |
9 |
89,975,848 (GRCm39) |
missense |
probably benign |
0.16 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTCTGTCATTTAGTAAGGACCA -3'
(R):5'- TCTATCCCATAGCCCAAAATTTCTA -3'
Sequencing Primer
(F):5'- TGTCATTTAGTAAGGACCAAAAACTC -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation