Incidental Mutation 'R5460:Morf4l1'
| ID |
432975 |
| 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 |
042849-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5460 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
89973718-89996827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89977183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 246
(T246I)
|
| 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: T246I
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000082346
Gene: ENSMUSG00000062270
AA Change: T246I
| 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: T207I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000132020
Gene: ENSMUSG00000062270
AA Change: T207I
| 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: T180I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140118
Gene: ENSMUSG00000062270
AA Change: T180I
| 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: 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| 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 |
|---|
| Actbl2 |
T |
A |
13: 111,392,238 (GRCm39) |
M191K |
probably benign |
Het |
| Actn1 |
T |
C |
12: 80,230,342 (GRCm39) |
N304S |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adamtsl2 |
T |
A |
2: 26,985,410 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,572,377 (GRCm39) |
E4928G |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,673,713 (GRCm39) |
C3103S |
probably benign |
Het |
| Appl2 |
T |
A |
10: 83,438,696 (GRCm39) |
I578F |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,121,282 (GRCm39) |
S982P |
probably benign |
Het |
| Brd10 |
G |
T |
19: 29,732,250 (GRCm39) |
P254Q |
probably damaging |
Het |
| Capn7 |
T |
C |
14: 31,090,160 (GRCm39) |
|
probably null |
Het |
| Cd200r3 |
A |
G |
16: 44,778,093 (GRCm39) |
T166A |
possibly damaging |
Het |
| Dctn6 |
C |
T |
8: 34,572,135 (GRCm39) |
|
probably null |
Het |
| Duxf4 |
G |
A |
10: 58,071,717 (GRCm39) |
H166Y |
possibly damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,185,776 (GRCm39) |
F366I |
probably damaging |
Het |
| Fam98b |
A |
T |
2: 117,089,737 (GRCm39) |
S85C |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,830,463 (GRCm39) |
N4344Y |
probably damaging |
Het |
| Fhl3 |
T |
G |
4: 124,599,796 (GRCm39) |
C92W |
probably damaging |
Het |
| Flrt1 |
T |
C |
19: 7,073,105 (GRCm39) |
T481A |
probably damaging |
Het |
| Gng2 |
G |
T |
14: 19,941,426 (GRCm39) |
N5K |
probably benign |
Het |
| Iqcm |
A |
T |
8: 76,441,417 (GRCm39) |
D230V |
probably benign |
Het |
| Limk2 |
T |
C |
11: 3,302,332 (GRCm39) |
I176V |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,698,847 (GRCm39) |
|
probably null |
Het |
| Maml1 |
T |
C |
11: 50,157,180 (GRCm39) |
T332A |
probably benign |
Het |
| Matcap2 |
T |
C |
9: 22,351,216 (GRCm39) |
F453L |
probably benign |
Het |
| Mbd1 |
T |
C |
18: 74,402,581 (GRCm39) |
F28L |
probably benign |
Het |
| Mtres1 |
T |
C |
10: 43,408,861 (GRCm39) |
K94R |
probably benign |
Het |
| Naa12 |
C |
T |
18: 80,255,138 (GRCm39) |
A144V |
probably damaging |
Het |
| Ndufaf1 |
T |
G |
2: 119,490,958 (GRCm39) |
D34A |
probably benign |
Het |
| Or4a77 |
T |
A |
2: 89,487,414 (GRCm39) |
I124F |
probably damaging |
Het |
| Or4c114 |
C |
T |
2: 88,905,208 (GRCm39) |
V76I |
probably benign |
Het |
| Patl1 |
C |
T |
19: 11,913,082 (GRCm39) |
R542C |
possibly damaging |
Het |
| Pcdha2 |
T |
C |
18: 37,072,474 (GRCm39) |
V35A |
probably damaging |
Het |
| Phf11b |
G |
A |
14: 59,568,713 (GRCm39) |
P67S |
probably benign |
Het |
| Plxnd1 |
T |
C |
6: 115,934,609 (GRCm39) |
I1775V |
probably damaging |
Het |
| Ryr1 |
T |
A |
7: 28,771,386 (GRCm39) |
T2552S |
probably damaging |
Het |
| Scai |
A |
T |
2: 38,973,585 (GRCm39) |
L52H |
probably damaging |
Het |
| Scai |
G |
C |
2: 38,973,586 (GRCm39) |
L52V |
probably damaging |
Het |
| Stag1 |
A |
T |
9: 100,838,506 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
A |
G |
4: 3,586,170 (GRCm39) |
K349R |
probably benign |
Het |
| Tpbgl |
T |
C |
7: 99,274,961 (GRCm39) |
I299V |
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,258,241 (GRCm39) |
T1325A |
probably benign |
Het |
| Ubxn11 |
A |
T |
4: 133,852,396 (GRCm39) |
E210D |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,453,271 (GRCm39) |
I1840V |
probably benign |
Het |
| Zfp74 |
A |
T |
7: 29,635,316 (GRCm39) |
F131I |
probably benign |
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 |
|
R3895:Morf4l1
|
UTSW |
9 |
89,976,501 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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'- AGAAGTATGGCTCAGACTTAACAAC -3'
(R):5'- TACAGTTACATCTCCCTGCATAG -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- AGTATCTGTAATCTTGAACCCACTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation