Mutagenetix > Incidental Mutation

Incidental Mutation 'R7095:Tmem219'

550424

Institutional Source

Beutler Lab

Gene Symbol

Tmem219

Ensembl Gene

ENSMUSG00000060538

Gene Name

transmembrane protein 219

Synonyms

2900045G02Rik, 1110032O16Rik

MMRRC Submission

045243-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R7095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126485343-126522089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126490928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 176 (F176L)

Ref Sequence

ENSEMBL: ENSMUSP00000113647 (fasta)

Gene Model

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

AlphaFold

Q9D123

Predicted Effect

probably benign
Transcript: ENSMUST00000032926
AA Change: F144L

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000032926
Gene: ENSMUSG00000060538
AA Change: F144L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119781
AA Change: F169L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114040
Gene: ENSMUSG00000060538
AA Change: F169L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120007
AA Change: F176L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113647
Gene: ENSMUSG00000060538
AA Change: F176L

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: F144L

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112485
Gene: ENSMUSG00000060538
AA Change: F144L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121612
AA Change: F73L

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113260
Gene: ENSMUSG00000060538
AA Change: F73L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134134
AA Change: F170L

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116806
Gene: ENSMUSG00000060538
AA Change: F170L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154174

Predicted Effect

Meta Mutation Damage Score

0.2070

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (71/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 36,268,403 (GRCm39)	V809A	possibly damaging	Het
Adam32	T	A	8: 25,404,086 (GRCm39)	D242V	probably damaging	Het
Adamts9	T	A	6: 92,864,672 (GRCm39)	H763L	probably benign	Het
Aff1	A	G	5: 103,990,951 (GRCm39)	D967G	probably damaging	Het
Anpep	A	T	7: 79,491,950 (GRCm39)	L17Q	possibly damaging	Het
Appbp2	G	T	11: 85,125,553 (GRCm39)	S28*	probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Bod1l	A	G	5: 41,952,411 (GRCm39)		probably null	Het
Capn5	G	A	7: 97,775,038 (GRCm39)	T534I	probably benign	Het
Cbx2	T	C	11: 118,918,885 (GRCm39)	I150T	probably damaging	Het
Cdh11	A	G	8: 103,384,899 (GRCm39)	V392A	probably damaging	Het
Cenpf	A	T	1: 189,391,373 (GRCm39)	C803S	probably benign	Het
Cep135	A	G	5: 76,741,905 (GRCm39)	T114A	probably benign	Het
Chd2	A	T	7: 73,121,629 (GRCm39)	D994E	probably damaging	Het
Chtf18	C	A	17: 25,941,652 (GRCm39)	W584C	probably damaging	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dgkh	C	A	14: 78,865,224 (GRCm39)	M172I	probably benign	Het
Dpy19l2	T	G	9: 24,607,110 (GRCm39)	H117P	probably benign	Het
Dzip3	A	T	16: 48,748,153 (GRCm39)	N908K	probably benign	Het
Erc2	A	T	14: 27,620,550 (GRCm39)	N393Y	probably damaging	Het
Fam118b	T	C	9: 35,132,786 (GRCm39)	E291G	possibly damaging	Het
Fam193a	C	T	5: 34,615,378 (GRCm39)	L816F	probably damaging	Het
Fat2	A	G	11: 55,202,157 (GRCm39)	Y306H	probably damaging	Het
Fndc10	C	T	4: 155,779,574 (GRCm39)	T206I	probably damaging	Het
Fzd1	GGGACTCCTCCACCTCCCTGGA	GGGA	5: 4,805,824 (GRCm39)		probably benign	Het
Gsk3a	A	T	7: 24,933,279 (GRCm39)	Y177N	probably damaging	Het
Haus5	T	C	7: 30,358,997 (GRCm39)	T222A	probably benign	Het
Igfbp7	G	T	5: 77,549,337 (GRCm39)	Q189K	probably benign	Het
Inppl1	A	T	7: 101,476,663 (GRCm39)	Y771*	probably null	Het
Iqck	A	T	7: 118,514,814 (GRCm39)	Y234F	probably damaging	Het
Irs1	G	T	1: 82,267,819 (GRCm39)	C132*	probably null	Het
Jmjd1c	T	G	10: 67,055,411 (GRCm39)	V277G	probably benign	Het
Klhl22	G	A	16: 17,610,614 (GRCm39)	V622M	probably damaging	Het
Kri1	C	T	9: 21,190,728 (GRCm39)	E378K		Het
Lilra6	C	T	7: 3,916,196 (GRCm39)	G221D	probably damaging	Het
Mecom	T	C	3: 30,035,103 (GRCm39)	E191G	probably damaging	Het
Mgrn1	T	A	16: 4,745,528 (GRCm39)		probably null	Het
Mical1	C	T	10: 41,355,206 (GRCm39)		probably null	Het
Mlxipl	T	C	5: 135,162,884 (GRCm39)	Y711H	possibly damaging	Het
Mpl	T	A	4: 118,301,260 (GRCm39)	H535L		Het
Mtarc1	A	G	1: 184,527,437 (GRCm39)	L297P	probably damaging	Het
Mtfr2	C	A	10: 20,228,666 (GRCm39)	H71N	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,660,931 (GRCm39)		probably null	Het
Myh15	A	G	16: 48,992,272 (GRCm39)	Q1582R	possibly damaging	Het
Neb	C	T	2: 52,067,635 (GRCm39)	E6062K	possibly damaging	Het
Nlrp4c	G	A	7: 6,063,792 (GRCm39)	A67T	probably damaging	Het
Noc3l	T	A	19: 38,800,789 (GRCm39)	H231L	probably benign	Het
Odf1	T	C	15: 38,219,803 (GRCm39)	Y44H	possibly damaging	Het
Or52e2	G	A	7: 102,804,537 (GRCm39)	T139I	probably damaging	Het
Or52s1b	C	T	7: 102,822,253 (GRCm39)	R197H	probably benign	Het
Or5j3	C	T	2: 86,129,021 (GRCm39)	P287L	probably benign	Het
Otol1	G	T	3: 69,926,027 (GRCm39)	E67D	probably benign	Het
Otud7b	A	G	3: 96,062,554 (GRCm39)	S598G	probably benign	Het
Ppwd1	T	A	13: 104,342,134 (GRCm39)	T607S	probably benign	Het
Prag1	A	G	8: 36,569,714 (GRCm39)	N99S	probably benign	Het
Ralgds	C	A	2: 28,439,320 (GRCm39)	Q737K	possibly damaging	Het
Scyl2	T	C	10: 89,505,549 (GRCm39)	H98R	probably damaging	Het
Secisbp2	A	C	13: 51,831,290 (GRCm39)	Q575H	probably benign	Het
Slc9a5	A	T	8: 106,084,268 (GRCm39)	H497L	probably benign	Het
Sufu	T	A	19: 46,464,027 (GRCm39)	V414E	probably damaging	Het
Tbc1d22b	A	T	17: 29,818,843 (GRCm39)	E399V	probably damaging	Het
Tcp10c	G	A	17: 13,576,196 (GRCm39)	V59I	probably benign	Het
Tdpoz3	T	C	3: 93,734,368 (GRCm39)	S348P	probably benign	Het
Trav6-2	A	G	14: 52,905,291 (GRCm39)	D104G	probably damaging	Het
Uba7	A	G	9: 107,860,538 (GRCm39)	K927R	probably benign	Het
Vps54	T	G	11: 21,221,720 (GRCm39)	D158E	probably benign	Het
Xpnpep1	C	T	19: 53,000,196 (GRCm39)		probably null	Het
Xpo7	G	A	14: 70,942,146 (GRCm39)	R73W	probably damaging	Het
Zfp532	A	T	18: 65,815,969 (GRCm39)	M781L	probably benign	Het
Zfp930	T	A	8: 69,681,193 (GRCm39)	I295K	probably benign	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
R2412:Tmem219	UTSW	7	126,495,939 (GRCm39)	missense	probably damaging	0.99
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
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'- TCAACCTAGGCACTTACTGAAG -3'
(R):5'- ACAGAGTGTGAACTTTTGATGGC -3'

Sequencing Primer
(F):5'- TTACTGAAGTAAGGAGCTCGGTG -3'
(R):5'- AACTCACTTGGTAGACTAGGCTG -3'

Posted On

2019-05-15