Mutagenetix > Incidental Mutation

Incidental Mutation 'R1653:Tmem204'

188885

Institutional Source

Beutler Lab

Gene Symbol

Tmem204

Ensembl Gene

ENSMUSG00000024168

Gene Name

transmembrane protein 204

Synonyms

MMRRC Submission

039689-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R1653 (G1)

Quality Score

125

Status

Not validated

Chromosome

Chromosomal Location

25057702-25081181 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25080527 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 6 (L6P)

Ref Sequence

ENSEMBL: ENSMUSP00000024984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024983] [ENSMUST00000024984] [ENSMUST00000137386] [ENSMUST00000153745]

AlphaFold

Q7TQI0

Predicted Effect

probably benign
Transcript: ENSMUST00000024983

SMART Domains

Protein: ENSMUSP00000024983
Gene: ENSMUSG00000024169

Domain	Start	End	E-Value	Type
WD40	55	89	6.14e1	SMART
WD40	91	131	1.49e0	SMART
Blast:WD40	252	304	3e-15	BLAST
WD40	308	352	2.76e0	SMART
Blast:WD40	364	405	8e-17	BLAST
Blast:WD40	510	547	6e-13	BLAST
Blast:WD40	560	603	3e-7	BLAST
Blast:TPR	863	896	9e-13	BLAST
Blast:TPR	1011	1044	1e-13	BLAST
Blast:TPR	1377	1410	8e-13	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024984
AA Change: L6P

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000024984
Gene: ENSMUSG00000024168
AA Change: L6P

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
transmembrane domain	102	124	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	168	190	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137386

SMART Domains

Protein: ENSMUSP00000116163
Gene: ENSMUSG00000024169

Domain	Start	End	E-Value	Type
WD40	55	89	6.14e1	SMART
WD40	91	131	1.49e0	SMART
Blast:WD40	252	304	3e-15	BLAST
WD40	308	352	2.76e0	SMART
Blast:WD40	364	405	1e-16	BLAST
Blast:WD40	510	547	5e-13	BLAST
Blast:WD40	560	603	3e-7	BLAST
Blast:TPR	863	896	8e-13	BLAST
Blast:TPR	1011	1044	9e-14	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142000

Predicted Effect

probably benign
Transcript: ENSMUST00000153745

SMART Domains

Protein: ENSMUSP00000119536
Gene: ENSMUSG00000024168

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
transmembrane domain	42	64	N/A	INTRINSIC
transmembrane domain	71	93	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153895

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice have enlarged lymphatic vessels with an abnormal smooth muscle cell coating. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	A	T	8: 43,650,645 (GRCm38)	C654*	probably null	Het
Adamts19	T	A	18: 58,890,293 (GRCm38)	N253K	probably benign	Het
Adgrb3	A	G	1: 25,101,503 (GRCm38)	L1162S	probably benign	Het
Ap2b1	T	A	11: 83,346,831 (GRCm38)	Y574N	probably damaging	Het
Atrn	A	G	2: 130,935,624 (GRCm38)	I198V	probably benign	Het
Bcan	T	A	3: 87,994,196 (GRCm38)	I400F	probably damaging	Het
Capn10	A	G	1: 92,946,898 (GRCm38)	Y617C	probably damaging	Het
Capn8	A	G	1: 182,623,951 (GRCm38)	N578D	probably benign	Het
Casd1	T	C	6: 4,624,134 (GRCm38)	L309P	probably benign	Het
Ccser1	T	A	6: 61,311,465 (GRCm38)	I204K	probably benign	Het
Cd276	T	C	9: 58,537,449 (GRCm38)	T80A	probably benign	Het
Cdh3	T	C	8: 106,539,068 (GRCm38)	S248P	probably damaging	Het
Celsr2	T	C	3: 108,413,520 (GRCm38)	T659A	possibly damaging	Het
Col6a4	C	T	9: 106,072,409 (GRCm38)	V676I	probably damaging	Het
Crmp1	T	A	5: 37,286,468 (GRCm38)	V575D	probably damaging	Het
Ep400	G	A	5: 110,693,174 (GRCm38)	Q1795*	probably null	Het
Gcnt3	A	G	9: 70,035,077 (GRCm38)	C70R	probably damaging	Het
Gm12258	T	C	11: 58,858,287 (GRCm38)	I96T	possibly damaging	Het
Gpr183	A	G	14: 121,954,263 (GRCm38)	F282S	probably damaging	Het
Igfals	T	C	17: 24,881,078 (GRCm38)	V381A	probably benign	Het
Irs3	C	A	5: 137,644,521 (GRCm38)	L218F	probably damaging	Het
Kdm5b	T	C	1: 134,602,481 (GRCm38)	F410S	probably damaging	Het
Klc4	T	C	17: 46,631,859 (GRCm38)	Y593C	possibly damaging	Het
Lce1h	T	A	3: 92,763,443 (GRCm38)	Q134L	unknown	Het
Lyst	T	C	13: 13,635,226 (GRCm38)	S494P	probably damaging	Het
Marchf3	A	G	18: 56,811,895 (GRCm38)	M42T	probably benign	Het
Myh7	A	G	14: 54,990,789 (GRCm38)	I250T	probably benign	Het
N4bp1	G	T	8: 86,844,948 (GRCm38)	H807Q	probably benign	Het
Ndn	C	T	7: 62,348,508 (GRCm38)	P34L	probably benign	Het
Nfs1	C	T	2: 156,125,336 (GRCm38)	G44D	probably damaging	Het
Nrg1	C	T	8: 31,818,653 (GRCm38)	R445H	probably damaging	Het
Or14c43	T	C	7: 86,466,212 (GRCm38)	V267A	probably benign	Het
Or4e5	A	T	14: 52,490,772 (GRCm38)	F64Y	probably damaging	Het
Or56a5	T	A	7: 105,143,870 (GRCm38)	D141V	possibly damaging	Het
Pak5	C	T	2: 136,116,887 (GRCm38)	V94M	probably damaging	Het
Pdk1	G	A	2: 71,888,995 (GRCm38)		probably null	Het
Sin3b	G	T	8: 72,741,519 (GRCm38)	V290L	probably benign	Het
Sirt1	T	C	10: 63,321,809 (GRCm38)	T609A	probably benign	Het
Skint5	A	T	4: 113,490,678 (GRCm38)	S1289T	unknown	Het
Slc32a1	A	T	2: 158,614,889 (GRCm38)	H488L	probably benign	Het
Slc35b3	A	G	13: 38,955,798 (GRCm38)	S18P	probably benign	Het
Spaca7	T	A	8: 12,586,501 (GRCm38)	I109K	possibly damaging	Het
Tubgcp6	G	A	15: 89,107,442 (GRCm38)	R651C	probably damaging	Het
Vps13b	T	A	15: 35,607,272 (GRCm38)	L1117*	probably null	Het
Wdcp	T	C	12: 4,851,815 (GRCm38)	L557P	probably damaging	Het
Wwp2	T	C	8: 107,483,410 (GRCm38)	F140S	possibly damaging	Het
Zfp429	C	T	13: 67,389,924 (GRCm38)	R467H	possibly damaging	Het
Zfp747l1	G	T	7: 127,384,480 (GRCm38)	H483Q	possibly damaging	Het
Zfp839	T	A	12: 110,855,250 (GRCm38)	M166K	probably benign	Het
Zfyve9	G	A	4: 108,660,577 (GRCm38)	Q1106*	probably null	Het
Zrsr2-ps1	T	A	11: 22,974,158 (GRCm38)	C311S	probably damaging	Het

Other mutations in Tmem204

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Tmem204	APN	17	25,070,355 (GRCm38)	missense	probably damaging	1.00
R0164:Tmem204	UTSW	17	25,058,350 (GRCm38)	missense	probably damaging	0.99
R0164:Tmem204	UTSW	17	25,058,350 (GRCm38)	missense	probably damaging	0.99
R2165:Tmem204	UTSW	17	25,080,592 (GRCm38)	unclassified	probably benign
R2846:Tmem204	UTSW	17	25,080,333 (GRCm38)	missense	probably benign	0.16
R5416:Tmem204	UTSW	17	25,058,326 (GRCm38)	missense	probably damaging	1.00
R7447:Tmem204	UTSW	17	25,058,296 (GRCm38)	missense	probably damaging	0.99
R7631:Tmem204	UTSW	17	25,080,440 (GRCm38)	missense	probably damaging	1.00
R8118:Tmem204	UTSW	17	25,080,338 (GRCm38)	missense	possibly damaging	0.66
R9658:Tmem204	UTSW	17	25,080,348 (GRCm38)	missense	possibly damaging	0.85
R9673:Tmem204	UTSW	17	25,080,269 (GRCm38)	missense	probably damaging	1.00
Z1177:Tmem204	UTSW	17	25,070,341 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGATTCCGAGCCCCATCCTAGAAC -3'
(R):5'- TGCCCCAGATTTCTCCCTGGAATG -3'

Sequencing Primer
(F):5'- CTAGAACCTCACAGTCATGGGTG -3'
(R):5'- GTGAGTAGCTCTCTTGGACCC -3'

Posted On

2014-05-09