Mutagenetix > Incidental Mutation

Incidental Mutation 'R2412:Tmem219'

250033

Institutional Source

Beutler Lab

Gene Symbol

Tmem219

Ensembl Gene

ENSMUSG00000060538

Gene Name

transmembrane protein 219

Synonyms

2900045G02Rik, 1110032O16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R2412 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126485343-126522089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126495939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 37 (S37G)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032926] [ENSMUST00000119781] [ENSMUST00000120007] [ENSMUST00000121532] [ENSMUST00000121612] [ENSMUST00000134134]

AlphaFold

Q9D123

Predicted Effect

probably benign
Transcript: ENSMUST00000032926
AA Change: S113G

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032926
Gene: ENSMUSG00000060538
AA Change: S113G

Domain	Start	End	E-Value	Type
Pfam:TMEM219	10	193	4.8e-51	PFAM
transmembrane domain	205	227	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119781
AA Change: S138G

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114040
Gene: ENSMUSG00000060538
AA Change: S138G

Domain	Start	End	E-Value	Type
Pfam:TMEM219	35	218	6.5e-51	PFAM
transmembrane domain	230	252	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120007
AA Change: S145G

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113647
Gene: ENSMUSG00000060538
AA Change: S145G

Domain	Start	End	E-Value	Type
low complexity region	5	20	N/A	INTRINSIC
Pfam:TMEM219	42	119	1.1e-12	PFAM
Pfam:TMEM219	116	216	1.6e-9	PFAM
low complexity region	217	232	N/A	INTRINSIC
transmembrane domain	237	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121532
AA Change: S113G

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112485
Gene: ENSMUSG00000060538
AA Change: S113G

Domain	Start	End	E-Value	Type
Pfam:TMEM219	10	193	4.8e-51	PFAM
transmembrane domain	205	227	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121612
AA Change: S42G

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113260
Gene: ENSMUSG00000060538
AA Change: S42G

Domain	Start	End	E-Value	Type
Pfam:TMEM219	1	122	1e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134134
AA Change: S139G

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116806
Gene: ENSMUSG00000060538
AA Change: S139G

Domain	Start	End	E-Value	Type
Pfam:TMEM219	36	219	3.3e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145307

Predicted Effect

probably damaging
Transcript: ENSMUST00000177004
AA Change: S37G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175690

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit attenuated IL13 responsiveness, increased susceptibility to exposure to 100% oxygen, and reduced lung metastasis of B16-F10 melanoma cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	T	3: 36,127,740 (GRCm39)	Q114L	probably benign	Het
Adamts3	A	G	5: 89,849,630 (GRCm39)	Y597H	probably damaging	Het
Bmi1	A	G	2: 18,688,525 (GRCm39)	H172R	probably damaging	Het
Cyp3a44	A	T	5: 145,716,389 (GRCm39)	Y400*	probably null	Het
Dennd5b	T	C	6: 148,906,736 (GRCm39)	T1062A	possibly damaging	Het
Dync2h1	T	C	9: 7,144,246 (GRCm39)	D1065G	probably benign	Het
Ephb1	G	A	9: 101,879,015 (GRCm39)	R492C	possibly damaging	Het
Fat4	A	T	3: 39,011,221 (GRCm39)	H2107L	probably benign	Het
Itga8	A	G	2: 12,306,526 (GRCm39)	V23A	probably benign	Het
Lrba	A	G	3: 86,235,007 (GRCm39)	N851D	probably damaging	Het
Ltbp3	A	G	19: 5,796,673 (GRCm39)	T322A	probably benign	Het
Ntpcr	T	C	8: 126,472,144 (GRCm39)	V151A	probably damaging	Het
Or8h7	T	C	2: 86,721,178 (GRCm39)	I114V	probably benign	Het
Or9g3	C	A	2: 85,590,024 (GRCm39)	G232V	probably damaging	Het
Pramel51	A	G	12: 88,143,880 (GRCm39)	V311A	probably damaging	Het
Rps6ka4	A	T	19: 6,807,309 (GRCm39)	*774K	probably null	Het
Slc12a5	T	C	2: 164,818,382 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubb1	A	G	2: 174,298,903 (GRCm39)	N195S	possibly damaging	Het
Zan	A	G	5: 137,412,425 (GRCm39)		probably null	Het
Zfp85	T	C	13: 67,897,765 (GRCm39)	I102M	probably damaging	Het

Other mutations in Tmem219

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01759:Tmem219	APN	7	126,496,310 (GRCm39)	missense	probably damaging	1.00
IGL02186:Tmem219	APN	7	126,495,988 (GRCm39)	missense	probably benign	0.02
IGL02742:Tmem219	APN	7	126,496,220 (GRCm39)	missense	probably damaging	1.00
IGL02836:Tmem219	APN	7	126,488,121 (GRCm39)	missense	probably benign	0.33
R1971:Tmem219	UTSW	7	126,496,422 (GRCm39)	missense	probably benign	0.18
R6347:Tmem219	UTSW	7	126,495,998 (GRCm39)	missense	possibly damaging	0.94
R7078:Tmem219	UTSW	7	126,490,975 (GRCm39)	missense	probably damaging	1.00
R7095:Tmem219	UTSW	7	126,490,928 (GRCm39)	missense	probably damaging	0.99
R7385:Tmem219	UTSW	7	126,495,947 (GRCm39)	missense	probably damaging	0.99
R9372:Tmem219	UTSW	7	126,496,017 (GRCm39)	missense	possibly damaging	0.69
R9573:Tmem219	UTSW	7	126,490,933 (GRCm39)	missense	probably damaging	1.00
Z1088:Tmem219	UTSW	7	126,490,846 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- CCTTGCTTTTAAACCTGAGGCC -3'
(R):5'- CGCAGGATTGGGTTTCCTTC -3'

Sequencing Primer
(F):5'- TTAAACCTGAGGCCTCTTGG -3'
(R):5'- CTTGAGATCTTTTGGCCAGCTAAGTC -3'

Posted On

2014-11-12