Mutagenetix > Incidental Mutation

Incidental Mutation 'R9372:Tmem219'

709387

Institutional Source

Beutler Lab

Gene Symbol

Tmem219

Ensembl Gene

ENSMUSG00000060538

Gene Name

transmembrane protein 219

Synonyms

2900045G02Rik, 1110032O16Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9372 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126485343-126522089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126496017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 119 (G119S)

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: G87S

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000032926
Gene: ENSMUSG00000060538
AA Change: G87S

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: G112S

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114040
Gene: ENSMUSG00000060538
AA Change: G112S

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: G119S

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113647
Gene: ENSMUSG00000060538
AA Change: G119S

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: G87S

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112485
Gene: ENSMUSG00000060538
AA Change: G87S

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: G16S

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113260
Gene: ENSMUSG00000060538
AA Change: G16S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134134
AA Change: G113S

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116806
Gene: ENSMUSG00000060538
AA Change: G113S

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

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aass	T	C	6: 23,078,856 (GRCm39)	T719A	probably damaging	Het
Abcb8	A	G	5: 24,605,114 (GRCm39)	E100G	probably benign	Het
Actr1b	C	T	1: 36,741,561 (GRCm39)	E104K	probably damaging	Het
Atad5	T	A	11: 79,985,094 (GRCm39)	S60R	possibly damaging	Het
Bcan	G	T	3: 87,895,610 (GRCm39)	A842D	probably benign	Het
Cacna2d2	G	A	9: 107,394,802 (GRCm39)	E623K	probably benign	Het
Cdk15	T	C	1: 59,370,142 (GRCm39)	Y393H	probably benign	Het
Ceacam12	C	T	7: 17,803,229 (GRCm39)	R212C	probably benign	Het
Ceacam5	T	C	7: 17,481,267 (GRCm39)	I338T	possibly damaging	Het
Crcp	A	G	5: 130,088,664 (GRCm39)	D139G	possibly damaging	Het
Crls1	T	A	2: 132,707,802 (GRCm39)	Y290*	probably null	Het
Dcun1d5	A	G	9: 7,206,780 (GRCm39)	N206D	probably damaging	Het
Dmtf1	A	T	5: 9,190,399 (GRCm39)	V105E	possibly damaging	Het
Dnah7a	T	C	1: 53,543,474 (GRCm39)	Y2232C	probably benign	Het
Dnajc25	T	A	4: 59,003,394 (GRCm39)	V55E	probably damaging	Het
Dpy19l4	T	C	4: 11,303,343 (GRCm39)	M193V	possibly damaging	Het
Dsc1	A	T	18: 20,221,489 (GRCm39)	V662E	probably damaging	Het
Enpp6	G	A	8: 47,506,627 (GRCm39)	V144I	possibly damaging	Het
Fip1l1	A	G	5: 74,707,463 (GRCm39)	T204A	possibly damaging	Het
Flvcr2	T	C	12: 85,793,795 (GRCm39)	V57A	probably benign	Het
Fsip2	T	G	2: 82,822,756 (GRCm39)	I6163S	possibly damaging	Het
Gipr	T	A	7: 18,896,863 (GRCm39)	M136L	probably benign	Het
Gm7298	A	G	6: 121,748,746 (GRCm39)	I674V	probably benign	Het
Gtf2a1	C	T	12: 91,534,592 (GRCm39)	V221I	probably damaging	Het
Haus3	A	T	5: 34,321,002 (GRCm39)	D481E	probably benign	Het
Hinfp	A	C	9: 44,209,083 (GRCm39)	V345G	probably damaging	Het
Hs3st5	A	T	10: 36,708,698 (GRCm39)	K78*	probably null	Het
Ighv1-31	T	C	12: 114,792,894 (GRCm39)	Y114C	probably damaging	Het
Ighv5-15	T	A	12: 113,790,357 (GRCm39)	T88S	probably damaging	Het
Ildr1	G	A	16: 36,542,721 (GRCm39)	D418N	probably damaging	Het
Ints10	C	T	8: 69,271,967 (GRCm39)	T556I	probably damaging	Het
Isoc1	G	T	18: 58,792,757 (GRCm39)	R65L	possibly damaging	Het
Itm2c	C	T	1: 85,833,055 (GRCm39)	R130C	probably damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kif11	T	C	19: 37,399,892 (GRCm39)	V793A	probably benign	Het
Klrg1	A	C	6: 122,256,699 (GRCm39)	V29G	probably benign	Het
Lrch4	A	G	5: 137,631,953 (GRCm39)	T114A	possibly damaging	Het
Map3k3	C	T	11: 106,033,335 (GRCm39)	T196M	probably damaging	Het
Marchf1	C	A	8: 66,921,145 (GRCm39)	T274N	probably benign	Het
Nxpe5	A	T	5: 138,249,445 (GRCm39)	T412S	probably benign	Het
Or10q1	C	T	19: 13,727,069 (GRCm39)	H200Y	probably benign	Het
Pcnt	A	G	10: 76,258,960 (GRCm39)	W502R	probably damaging	Het
Pfdn5	T	C	15: 102,235,286 (GRCm39)		probably null	Het
Pkn2	A	T	3: 142,535,018 (GRCm39)	V232E	probably damaging	Het
Ppfibp1	T	C	6: 146,898,307 (GRCm39)	S88P	probably damaging	Het
Prr23a4	A	G	9: 98,785,478 (GRCm39)	I48V	probably benign	Het
Ptprz1	G	A	6: 23,045,706 (GRCm39)	E2159K	probably damaging	Het
Smyd3	T	C	1: 178,871,470 (GRCm39)	E303G	possibly damaging	Het
Snx13	T	A	12: 35,151,048 (GRCm39)	N336K	possibly damaging	Het
Src	A	G	2: 157,311,808 (GRCm39)	E512G	possibly damaging	Het
Stard9	T	A	2: 120,495,420 (GRCm39)	C98*	probably null	Het
Tapbpl	A	G	6: 125,203,672 (GRCm39)	V336A	probably benign	Het
Tbrg1	G	A	9: 37,563,945 (GRCm39)	T230I	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem132c	G	A	5: 127,640,145 (GRCm39)	G772D	probably damaging	Het
Ttbk2	T	A	2: 120,603,766 (GRCm39)	S325C	probably benign	Het
Ttc28	A	T	5: 111,331,073 (GRCm39)	Y431F	probably benign	Het
Vmn1r27	A	T	6: 58,192,746 (GRCm39)	M86K	possibly damaging	Het
Vmn2r15	G	A	5: 109,441,953 (GRCm39)	P160L	possibly damaging	Het
Zfc3h1	A	T	10: 115,221,223 (GRCm39)	S41C	unknown	Het
Zfp260	C	A	7: 29,804,232 (GRCm39)	T44K	probably benign	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp760	A	G	17: 21,941,035 (GRCm39)	N70S	probably benign	Het
Zfp788	T	A	7: 41,299,708 (GRCm39)	Y781*	probably null	Het
Zfp800	A	T	6: 28,256,433 (GRCm39)	S52T	possibly 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
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
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'- AGTCACTAAGGTGTACGGATGTG -3'
(R):5'- CCTGACATTCCCCAGGTAAGTAC -3'

Sequencing Primer
(F):5'- ACGGATGTGTCCAAGTTAGCAGTC -3'
(R):5'- GGTAAGTACCCGGGGTGC -3'

Posted On

2022-04-18