Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02836:Tmem219'

361658

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem219

Ensembl Gene

ENSMUSG00000060538

Gene Name

transmembrane protein 219

Synonyms

2900045G02Rik, 1110032O16Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02836

Quality Score

Status

Chromosome

Chromosomal Location

126485343-126522089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126488121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 265 (F265I)

Ref Sequence

ENSEMBL: ENSMUSP00000113647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032926] [ENSMUST00000071268] [ENSMUST00000117394] [ENSMUST00000119781] [ENSMUST00000120007] [ENSMUST00000121532] [ENSMUST00000121612] [ENSMUST00000134134]

AlphaFold

Q9D123

Predicted Effect

probably benign
Transcript: ENSMUST00000032926
AA Change: F233I

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000032926
Gene: ENSMUSG00000060538
AA Change: F233I

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: ENSMUST00000071268

SMART Domains

Protein: ENSMUSP00000071246
Gene: ENSMUSG00000059981

Domain	Start	End	E-Value	Type
S_TKc	28	281	6.42e-86	SMART
low complexity region	319	333	N/A	INTRINSIC
coiled coil region	373	401	N/A	INTRINSIC
low complexity region	449	465	N/A	INTRINSIC
coiled coil region	493	526	N/A	INTRINSIC
low complexity region	558	570	N/A	INTRINSIC
coiled coil region	579	608	N/A	INTRINSIC
low complexity region	620	639	N/A	INTRINSIC
coiled coil region	821	859	N/A	INTRINSIC
low complexity region	863	892	N/A	INTRINSIC
low complexity region	931	954	N/A	INTRINSIC
low complexity region	963	972	N/A	INTRINSIC
low complexity region	977	992	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117394

SMART Domains

Protein: ENSMUSP00000112963
Gene: ENSMUSG00000059981

Domain	Start	End	E-Value	Type
S_TKc	28	281	6.42e-86	SMART
low complexity region	319	333	N/A	INTRINSIC
coiled coil region	373	401	N/A	INTRINSIC
low complexity region	449	465	N/A	INTRINSIC
coiled coil region	493	526	N/A	INTRINSIC
low complexity region	558	570	N/A	INTRINSIC
coiled coil region	579	608	N/A	INTRINSIC
low complexity region	620	639	N/A	INTRINSIC
low complexity region	929	939	N/A	INTRINSIC
transmembrane domain	962	984	N/A	INTRINSIC
transmembrane domain	991	1013	N/A	INTRINSIC
transmembrane domain	1017	1039	N/A	INTRINSIC
transmembrane domain	1052	1074	N/A	INTRINSIC
low complexity region	1085	1100	N/A	INTRINSIC
low complexity region	1197	1215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119781
AA Change: F258I

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114040
Gene: ENSMUSG00000060538
AA Change: F258I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120007
AA Change: F265I

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113647
Gene: ENSMUSG00000060538
AA Change: F265I

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: F233I

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112485
Gene: ENSMUSG00000060538
AA Change: F233I

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

SMART Domains

Protein: ENSMUSP00000113260
Gene: ENSMUSG00000060538

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145307

Predicted Effect

probably benign
Transcript: ENSMUST00000154174

Predicted Effect

probably benign
Transcript: ENSMUST00000177004

Predicted Effect

probably benign
Transcript: ENSMUST00000134134

SMART Domains

Protein: ENSMUSP00000116806
Gene: ENSMUSG00000060538

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

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,349,782 (GRCm39)	N346K	possibly damaging	Het
Abca15	A	G	7: 119,987,439 (GRCm39)	M1242V	probably benign	Het
Abca6	T	A	11: 110,139,374 (GRCm39)	E33D	probably damaging	Het
Abca8a	T	C	11: 109,961,177 (GRCm39)	K582E	possibly damaging	Het
Abcb6	A	G	1: 75,154,646 (GRCm39)	L263P	probably damaging	Het
Adamts2	A	C	11: 50,678,106 (GRCm39)	E795A	probably damaging	Het
Avil	T	A	10: 126,844,864 (GRCm39)	I292N	probably damaging	Het
Cd300ld2	T	C	11: 114,904,576 (GRCm39)	D97G	probably benign	Het
Cfh	A	C	1: 140,030,137 (GRCm39)	I912R	probably damaging	Het
Cyp26c1	A	T	19: 37,675,604 (GRCm39)	Q156L	probably benign	Het
Dhx57	T	C	17: 80,574,978 (GRCm39)	I614V	probably damaging	Het
Dip2c	T	A	13: 9,660,826 (GRCm39)	S896T	probably damaging	Het
Dmtn	G	T	14: 70,853,518 (GRCm39)	P97Q	probably damaging	Het
Dock6	A	T	9: 21,713,160 (GRCm39)	V1931E	probably damaging	Het
Dpep2	C	A	8: 106,717,227 (GRCm39)		probably null	Het
Dsg1c	T	A	18: 20,400,986 (GRCm39)	L163Q	probably benign	Het
Esyt3	A	G	9: 99,202,960 (GRCm39)		probably benign	Het
Fcgbp	T	A	7: 27,816,783 (GRCm39)	I2415N	possibly damaging	Het
Fpr-rs6	T	C	17: 20,403,307 (GRCm39)	D18G	probably benign	Het
Fras1	T	C	5: 96,682,725 (GRCm39)	V74A	possibly damaging	Het
Frem3	T	C	8: 81,341,010 (GRCm39)	V1101A	probably benign	Het
Fut8	T	A	12: 77,496,987 (GRCm39)	V399E	probably benign	Het
Galntl5	G	T	5: 25,391,237 (GRCm39)	K45N	probably benign	Het
Gbe1	A	G	16: 70,357,983 (GRCm39)	Y669C	possibly damaging	Het
Gcnt1	T	C	19: 17,307,493 (GRCm39)	I77M	probably benign	Het
Itprid1	T	A	6: 55,875,075 (GRCm39)	W342R	probably damaging	Het
Mark2	A	G	19: 7,255,405 (GRCm39)		probably null	Het
Muc2	A	T	7: 141,300,450 (GRCm39)		probably benign	Het
Nacc2	C	T	2: 25,980,329 (GRCm39)	V36I	probably damaging	Het
Nphp1	T	C	2: 127,611,543 (GRCm39)	I268V	probably benign	Het
Oosp3	A	G	19: 11,678,332 (GRCm39)	I5V	probably benign	Het
Or9m1	T	G	2: 87,733,724 (GRCm39)	T99P	possibly damaging	Het
Pex7	A	G	10: 19,769,990 (GRCm39)		probably benign	Het
Prr14l	T	C	5: 32,988,440 (GRCm39)	K352E	probably benign	Het
Rheb	T	A	5: 25,008,709 (GRCm39)	I170F	probably benign	Het
Rpgrip1	A	G	14: 52,382,714 (GRCm39)		probably null	Het
Rps2	T	A	17: 24,939,650 (GRCm39)	L107Q	probably damaging	Het
Rrp1	A	T	10: 78,240,874 (GRCm39)		probably benign	Het
Rtcb	A	T	10: 85,779,806 (GRCm39)	V288D	possibly damaging	Het
Sec14l3	T	C	11: 4,020,084 (GRCm39)	F174L	probably benign	Het
Slc28a1	G	A	7: 80,775,909 (GRCm39)	V202M	probably damaging	Het
Slc44a3	A	T	3: 121,325,366 (GRCm39)	C32S	probably damaging	Het
Syne1	G	A	10: 5,359,875 (GRCm39)		probably benign	Het
Synrg	C	A	11: 83,892,804 (GRCm39)		probably benign	Het
Tmem94	T	C	11: 115,683,765 (GRCm39)	I726T	probably damaging	Het
Trim37	T	C	11: 87,087,785 (GRCm39)	M632T	probably benign	Het
Trpm6	A	T	19: 18,790,846 (GRCm39)	Q627L	probably damaging	Het
Uvrag	A	G	7: 98,628,984 (GRCm39)	V361A	possibly damaging	Het
Yipf3	C	A	17: 46,562,520 (GRCm39)	N308K	possibly damaging	Het
Zfp438	A	G	18: 5,245,427 (GRCm39)		probably benign	Het
Zmiz1	T	A	14: 25,657,166 (GRCm39)		probably benign	Het
Zranb3	A	G	1: 127,888,562 (GRCm39)	V841A	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
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
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

Posted On

2015-12-18