Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02969:Tmem213'

365746

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem213

Ensembl Gene

ENSMUSG00000029829

Gene Name

transmembrane protein 213

Synonyms

D630002J15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL02969

Quality Score

Status

Chromosome

Chromosomal Location

38086288-38092741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38092601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 111 (V111E)

Ref Sequence

ENSEMBL: ENSMUSP00000031851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031851] [ENSMUST00000040259]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031851
AA Change: V111E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031851
Gene: ENSMUSG00000029829
AA Change: V111E

Domain	Start	End	E-Value	Type
Pfam:TMEM213	49	127	7.2e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040259

SMART Domains

Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	26	824	3.5e-293	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157299

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,946,866 (GRCm39)		probably benign	Het
Acsbg3	A	T	17: 57,190,751 (GRCm39)	T440S	probably damaging	Het
Akap12	T	A	10: 4,304,864 (GRCm39)	V558E	probably damaging	Het
Atg4c	T	C	4: 99,146,624 (GRCm39)		probably benign	Het
Atg7	T	A	6: 114,701,884 (GRCm39)	N673K	possibly damaging	Het
Brpf3	A	G	17: 29,040,279 (GRCm39)	D900G	probably benign	Het
C2cd5	T	C	6: 143,025,669 (GRCm39)	Y176C	probably damaging	Het
Cep70	A	T	9: 99,180,557 (GRCm39)	I571F	possibly damaging	Het
Cir1	C	T	2: 73,134,120 (GRCm39)	G150R	probably null	Het
Cyp46a1	T	C	12: 108,309,296 (GRCm39)	V68A	probably damaging	Het
Dlgap2	A	G	8: 14,881,579 (GRCm39)	T883A	possibly damaging	Het
Dnah2	C	A	11: 69,412,013 (GRCm39)	K249N	possibly damaging	Het
Dnajc11	A	G	4: 152,062,503 (GRCm39)	K434R	probably benign	Het
Eri3	A	G	4: 117,506,508 (GRCm39)	Y279C	probably damaging	Het
Hectd4	T	A	5: 121,503,116 (GRCm39)	Y4362N	possibly damaging	Het
Ilk	A	G	7: 105,389,547 (GRCm39)	K85E	possibly damaging	Het
Insrr	G	T	3: 87,721,498 (GRCm39)	G1135*	probably null	Het
Itgax	T	A	7: 127,748,295 (GRCm39)	M1108K	probably benign	Het
Mpzl3	C	T	9: 44,979,514 (GRCm39)	T155I	probably benign	Het
Or4f57	A	T	2: 111,790,912 (GRCm39)	C169S	probably damaging	Het
Or6c212	A	T	10: 129,559,065 (GRCm39)	M116K	probably damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Polr2h	A	G	16: 20,537,807 (GRCm39)	Y68C	probably damaging	Het
Pramel47	C	T	5: 95,489,258 (GRCm39)	P234S	probably benign	Het
Rhobtb3	A	G	13: 76,091,550 (GRCm39)	S2P	probably damaging	Het
Slc24a5	T	C	2: 124,925,147 (GRCm39)	S263P	probably damaging	Het
Spz1	T	G	13: 92,711,851 (GRCm39)	K208N	possibly damaging	Het
Tbpl2	C	A	2: 23,981,105 (GRCm39)	C231F	probably damaging	Het
Tdrd6	T	C	17: 43,938,440 (GRCm39)	I869M	probably damaging	Het
Tesk1	G	A	4: 43,447,027 (GRCm39)	E472K	possibly damaging	Het
Tesk1	C	A	4: 43,447,026 (GRCm39)	C471*	probably null	Het
Thoc2l	C	T	5: 104,667,209 (GRCm39)	T577I	probably benign	Het
Tmem232	A	T	17: 65,563,558 (GRCm39)	Y612N	possibly damaging	Het
Ttn	T	C	2: 76,729,707 (GRCm39)		probably benign	Het
Vmn2r113	G	A	17: 23,177,591 (GRCm39)	V792I	probably benign	Het
Wdfy1	A	G	1: 79,691,588 (GRCm39)	V273A	probably benign	Het
Wwp1	A	G	4: 19,623,200 (GRCm39)	S762P	probably damaging	Het

Other mutations in Tmem213

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01924:Tmem213	APN	6	38,086,373 (GRCm39)	missense	possibly damaging	0.56
IGL03337:Tmem213	APN	6	38,086,478 (GRCm39)	splice site	probably null
R1864:Tmem213	UTSW	6	38,086,487 (GRCm39)	missense	possibly damaging	0.53
R1865:Tmem213	UTSW	6	38,086,487 (GRCm39)	missense	possibly damaging	0.53
R5557:Tmem213	UTSW	6	38,086,466 (GRCm39)	missense	possibly damaging	0.73
R5809:Tmem213	UTSW	6	38,092,589 (GRCm39)	missense	possibly damaging	0.93
R5999:Tmem213	UTSW	6	38,086,386 (GRCm39)	missense	probably benign	0.18
R6209:Tmem213	UTSW	6	38,092,517 (GRCm39)	missense	probably damaging	0.98
R6230:Tmem213	UTSW	6	38,091,551 (GRCm39)	missense	probably damaging	0.99
X0067:Tmem213	UTSW	6	38,086,469 (GRCm39)	missense	probably benign	0.18

Posted On

2015-12-18