Incidental Mutation 'IGL02145:Morf4l1'
ID281701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Morf4l1
Ensembl Gene ENSMUSG00000062270
Gene Namemortality factor 4 like 1
SynonymsMRG15, Tex189, MORFRG15, TEG-189
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02145
Quality Score
Status
Chromosome9
Chromosomal Location90091665-90114774 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 90093795 bp
ZygosityHeterozygous
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] [ENSMUST00000190345] [ENSMUST00000191189] [ENSMUST00000191353]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000190345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190377
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Tudor-knot 11 53 3.1e-8 PFAM
Blast:CHROMO 82 116 2e-6 BLAST
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agt A G 8: 124,564,448 L40P probably damaging Het
Ahnak T C 19: 9,002,855 I501T probably benign Het
Aldh2 A G 5: 121,567,993 *196Q probably null Het
Ankrd65 A G 4: 155,791,391 D23G possibly damaging Het
Anln A T 9: 22,338,996 probably null Het
Armc3 G A 2: 19,286,137 probably null Het
Armc3 C T 2: 19,296,860 S663L possibly damaging Het
Cul5 A T 9: 53,635,075 probably benign Het
Cyba T C 8: 122,425,057 I134V probably damaging Het
Cybb T A X: 9,457,018 Q93H probably damaging Het
Cyp4f37 G T 17: 32,630,035 K292N probably benign Het
Dmxl2 T C 9: 54,374,697 I2850V probably benign Het
Ep300 T C 15: 81,601,166 I118T unknown Het
Ercc6l G T X: 102,145,542 P454T probably benign Het
Grxcr1 A G 5: 68,110,478 E190G probably damaging Het
Heatr3 C T 8: 88,144,599 R194C probably benign Het
Hspa12b C T 2: 131,143,735 probably benign Het
Inpp5d T C 1: 87,715,055 V644A probably damaging Het
Kif26a G A 12: 112,176,975 R1221H probably benign Het
Klra8 T C 6: 130,125,236 N79D probably benign Het
Kntc1 T C 5: 123,762,598 I253T possibly damaging Het
Lamp5 T C 2: 136,059,589 V111A possibly damaging Het
Lmo7 T C 14: 101,902,223 S859P probably benign Het
Mgarp T C 3: 51,389,032 Q205R possibly damaging Het
Naip6 A T 13: 100,296,978 V1117E possibly damaging Het
Nipal1 A G 5: 72,666,931 D206G probably damaging Het
Notch3 A G 17: 32,154,741 S498P probably benign Het
Npepps A G 11: 97,218,502 probably null Het
Olfr310 C A 7: 86,269,258 C177F probably damaging Het
Olfr319 T C 11: 58,702,060 Y120H probably damaging Het
Phlpp1 A G 1: 106,389,883 H1278R probably damaging Het
Pprc1 C A 19: 46,064,890 probably benign Het
Rab8b A T 9: 66,847,718 probably benign Het
Ripor2 T A 13: 24,717,571 I875N probably damaging Het
Samd9l T C 6: 3,374,105 E1052G probably benign Het
Slit3 A T 11: 35,629,742 I569F probably damaging Het
Spata2l C T 8: 123,234,031 G173D possibly damaging Het
Stc2 T G 11: 31,367,875 probably benign Het
Tm6sf1 C A 7: 81,863,252 Y65* probably null Het
Tspan15 A G 10: 62,193,972 probably benign Het
Vmn2r14 A T 5: 109,220,588 Y179* probably null Het
Washc5 C A 15: 59,369,211 V92L probably benign Het
Wiz A G 17: 32,356,919 S838P probably benign Het
Zp2 T A 7: 120,139,851 probably null Het
Other mutations in Morf4l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03309:Morf4l1 APN 9 90103745 missense probably benign
R0848:Morf4l1 UTSW 9 90100449 missense probably benign 0.24
R0893:Morf4l1 UTSW 9 90102350 missense probably damaging 1.00
R1155:Morf4l1 UTSW 9 90094504 missense probably benign 0.11
R1765:Morf4l1 UTSW 9 90102348 missense possibly damaging 0.60
R1972:Morf4l1 UTSW 9 90095214 unclassified probably benign
R3805:Morf4l1 UTSW 9 90095143 missense probably benign 0.10
R3806:Morf4l1 UTSW 9 90095143 missense probably benign 0.10
R3894:Morf4l1 UTSW 9 90094448 missense possibly damaging 0.90
R3895:Morf4l1 UTSW 9 90094448 missense possibly damaging 0.90
R5460:Morf4l1 UTSW 9 90095130 missense probably benign 0.10
R6884:Morf4l1 UTSW 9 90094479 missense probably damaging 1.00
R7088:Morf4l1 UTSW 9 90097380 missense possibly damaging 0.59
R7869:Morf4l1 UTSW 9 90093791 missense probably damaging 1.00
R7876:Morf4l1 UTSW 9 90093806 missense possibly damaging 0.65
R7952:Morf4l1 UTSW 9 90093791 missense probably damaging 1.00
R7959:Morf4l1 UTSW 9 90093806 missense possibly damaging 0.65
Posted On2015-04-16