Mutagenetix > Incidental Mutation

Incidental Mutation 'R1155:Morf4l1'

101667

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

039228-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89973718-89996827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89976557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 257 (V257A)

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: V257A

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000082346
Gene: ENSMUSG00000062270
AA Change: V257A

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: V218A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000132020
Gene: ENSMUSG00000062270
AA Change: V218A

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: V191A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000140118
Gene: ENSMUSG00000062270
AA Change: V191A

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

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.6%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,467,270 (GRCm39)	E121G	possibly damaging	Het
Abtb3	A	T	10: 85,465,155 (GRCm39)	H665L	probably damaging	Het
Adgrg1	G	A	8: 95,733,468 (GRCm39)	V307I	possibly damaging	Het
Cilp	A	G	9: 65,176,869 (GRCm39)	T42A	probably benign	Het
Col6a3	T	A	1: 90,722,047 (GRCm39)	K1493M	probably null	Het
Col6a6	A	G	9: 105,659,289 (GRCm39)	V552A	possibly damaging	Het
Cradd	T	C	10: 95,158,586 (GRCm39)	T54A	probably benign	Het
Elfn2	A	G	15: 78,557,344 (GRCm39)	I401T	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Hoxc6	A	G	15: 102,919,279 (GRCm39)	I172V	probably damaging	Het
Knl1	T	C	2: 118,901,635 (GRCm39)	L1112P	possibly damaging	Het
Lipo4	T	A	19: 33,480,595 (GRCm39)	I258F	probably benign	Het
Or51a8	A	T	7: 102,549,819 (GRCm39)	M82L	probably benign	Het
Rnpepl1	T	A	1: 92,844,609 (GRCm39)	M367K	probably damaging	Het
Robo2	A	G	16: 73,831,996 (GRCm39)	L228P	probably damaging	Het
Samd9l	T	A	6: 3,376,939 (GRCm39)	E107D	probably benign	Het
Shc1	A	G	3: 89,332,126 (GRCm39)	I194V	probably benign	Het
Slc25a46	A	G	18: 31,716,668 (GRCm39)	I278T	probably benign	Het
Tmem178	T	A	17: 81,308,429 (GRCm39)	C275S	possibly damaging	Het
Tpsg1	A	T	17: 25,592,768 (GRCm39)	Q40L	possibly damaging	Het
Trank1	A	G	9: 111,196,038 (GRCm39)	E1354G	possibly damaging	Het
Vit	T	C	17: 78,873,456 (GRCm39)	I44T	probably damaging	Het
Vstm5	T	C	9: 15,168,849 (GRCm39)	S138P	probably 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
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

Predicted Primers

Posted On

2014-01-15