Mutagenetix > Incidental Mutation

Incidental Mutation 'R4168:Tmem119'

320654

Institutional Source

Beutler Lab

Gene Symbol

Tmem119

Ensembl Gene

ENSMUSG00000054675

Gene Name

transmembrane protein 119

Synonyms

obif

MMRRC Submission

041009-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4168 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113931790-113938530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113933048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 251 (E251G)

Ref Sequence

ENSEMBL: ENSMUSP00000070551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067853] [ENSMUST00000160374]

AlphaFold

Q8R138

Predicted Effect

probably benign
Transcript: ENSMUST00000067853
AA Change: E251G

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000070551
Gene: ENSMUSG00000054675
AA Change: E251G

Domain	Start	End	E-Value	Type
low complexity region	6	12	N/A	INTRINSIC
Pfam:TMEM119	20	274	1.8e-134	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160374

Meta Mutation Damage Score

0.0888

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (39/40)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele exhibit growth retardation associated with delayed endochondral bone ossification and impaired osteoblast differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C3	A	T	17: 57,525,608 (GRCm39)	F883I	probably benign	Het
Cbr4	T	A	8: 61,944,555 (GRCm39)		probably benign	Het
Cd200r3	T	A	16: 44,774,552 (GRCm39)	D188E	probably benign	Het
Chpf2	T	C	5: 24,796,788 (GRCm39)	V578A	possibly damaging	Het
Clasrp	A	G	7: 19,315,079 (GRCm39)		probably benign	Het
Cmip	A	T	8: 118,183,656 (GRCm39)	N743I	probably damaging	Het
Ctif	A	C	18: 75,770,286 (GRCm39)	L33R	probably damaging	Het
Dmap1	T	A	4: 117,538,507 (GRCm39)	H54L	possibly damaging	Het
Elk3	A	G	10: 93,101,197 (GRCm39)		probably null	Het
Fcgbpl1	T	C	7: 27,836,534 (GRCm39)	L151P	probably benign	Het
Flt4	G	A	11: 49,521,400 (GRCm39)	R440H	probably benign	Het
Gabrb2	A	T	11: 42,312,155 (GRCm39)		probably benign	Het
Gm12789	A	G	4: 101,847,159 (GRCm39)	Y148C	possibly damaging	Het
Haspin	A	G	11: 73,026,848 (GRCm39)	L747P	probably damaging	Het
Intu	C	T	3: 40,627,053 (GRCm39)	P278L	probably benign	Het
Kif27	A	G	13: 58,493,562 (GRCm39)	I127T	probably benign	Het
Mogat1	T	C	1: 78,488,672 (GRCm39)	V25A	possibly damaging	Het
Nop14	A	G	5: 34,814,088 (GRCm39)	S157P	probably damaging	Het
Or5al6	A	G	2: 85,976,523 (GRCm39)	I185T	probably benign	Het
Or5d39	T	C	2: 87,980,189 (GRCm39)	H58R	probably damaging	Het
Or5k3	A	T	16: 58,969,363 (GRCm39)	Y50F	probably benign	Het
Oxct2b	T	C	4: 123,011,478 (GRCm39)	L466P	probably damaging	Het
Padi6	A	G	4: 140,469,245 (GRCm39)	C32R	probably damaging	Het
Pla2r1	A	T	2: 60,327,958 (GRCm39)	Y501*	probably null	Het
Rb1cc1	G	A	1: 6,300,248 (GRCm39)	V8I	probably damaging	Het
Rexo5	A	G	7: 119,426,621 (GRCm39)		probably benign	Het
Slco1a7	T	C	6: 141,684,673 (GRCm39)	I261V	probably benign	Het
Vmn2r112	T	A	17: 22,822,069 (GRCm39)	M249K	probably benign	Het
Zc2hc1a	A	G	3: 7,583,451 (GRCm39)	T41A	probably benign	Het
Zfp128	A	G	7: 12,624,289 (GRCm39)	D219G	probably benign	Het
Znrf2	T	C	6: 54,840,945 (GRCm39)	V173A	possibly damaging	Het

Other mutations in Tmem119

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01520:Tmem119	APN	5	113,933,546 (GRCm39)	missense	probably damaging	1.00
IGL01645:Tmem119	APN	5	113,933,409 (GRCm39)	nonsense	probably null
IGL02833:Tmem119	APN	5	113,933,432 (GRCm39)	missense	probably damaging	1.00
IGL03161:Tmem119	APN	5	113,932,961 (GRCm39)	missense	possibly damaging	0.80
R0965:Tmem119	UTSW	5	113,933,480 (GRCm39)	missense	probably damaging	1.00
R4923:Tmem119	UTSW	5	113,933,405 (GRCm39)	missense	probably damaging	1.00
R5207:Tmem119	UTSW	5	113,933,289 (GRCm39)	missense	probably damaging	1.00
R9516:Tmem119	UTSW	5	113,933,267 (GRCm39)	missense	probably damaging	1.00
R9538:Tmem119	UTSW	5	113,933,702 (GRCm39)	missense	possibly damaging	0.76
R9779:Tmem119	UTSW	5	113,933,204 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- AGAGCTGAATGCCTTTCTTGAC -3'
(R):5'- TGACATTCTGGCTGCTACCC -3'

Sequencing Primer
(F):5'- TGCCTTTCTTGACCAAAGAGG -3'
(R):5'- AGAACCTCCGGTCTCCAGCTAG -3'

Posted On

2015-06-12