Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01068:Tmem209'

51248

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem209

Ensembl Gene

ENSMUSG00000029782

Gene Name

transmembrane protein 209

Synonyms

2700094F01Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.664) question?

Stock #

IGL01068

Quality Score

Status

Chromosome

Chromosomal Location

30479053-30509783 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 30502086 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 197 (L197R)

Ref Sequence

ENSEMBL: ENSMUSP00000138292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064330] [ENSMUST00000102991] [ENSMUST00000115157] [ENSMUST00000115160] [ENSMUST00000138823] [ENSMUST00000148638] [ENSMUST00000151187] [ENSMUST00000154547] [ENSMUST00000222934]

AlphaFold

Q8BRG8

Predicted Effect

probably benign
Transcript: ENSMUST00000064330
AA Change: L197R

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000067667
Gene: ENSMUSG00000029782
AA Change: L197R

Domain	Start	End	E-Value	Type
Pfam:CytochromB561_N	5	343	4.1e-88	PFAM
Pfam:CytochromB561_N	341	438	2.2e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102991
AA Change: L197R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000100056
Gene: ENSMUSG00000029782
AA Change: L197R

Domain	Start	End	E-Value	Type
Pfam:CytochromB561_N	5	376	5.2e-107	PFAM
Pfam:CytochromB561_N	372	519	3.1e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115157
AA Change: L196R

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110810
Gene: ENSMUSG00000029782
AA Change: L196R

Domain	Start	End	E-Value	Type
Pfam:CytochromB561_N	4	560	4.8e-209	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115160
AA Change: L197R

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110813
Gene: ENSMUSG00000029782
AA Change: L197R

Domain	Start	End	E-Value	Type
Pfam:CytochromB561_N	6	560	6.4e-159	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138823
AA Change: L197R

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138292
Gene: ENSMUSG00000029782
AA Change: L197R

Domain	Start	End	E-Value	Type
Pfam:CytochromB561_N	5	560	1.2e-205	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148638

SMART Domains

Protein: ENSMUSP00000115567
Gene: ENSMUSG00000029782

Domain	Start	End	E-Value	Type
Pfam:CytochromB561_N	4	71	1.3e-15	PFAM
Pfam:CytochromB561_N	67	139	1.4e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150480

Predicted Effect

probably benign
Transcript: ENSMUST00000151187
AA Change: L39R

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000138232
Gene: ENSMUSG00000029782
AA Change: L39R

Domain	Start	End	E-Value	Type
Pfam:CytochromB561_N	1	403	1.5e-160	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000154547
AA Change: L39R

SMART Domains

Protein: ENSMUSP00000145248
Gene: ENSMUSG00000029782
AA Change: L39R

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000222934
AA Change: L39R

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,504,175		probably benign	Het
Adgra1	A	G	7: 139,845,625	E18G	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Atg16l1	C	T	1: 87,774,824	S269L	probably damaging	Het
Atp8a1	A	G	5: 67,667,337	V853A	probably benign	Het
Bicral	T	C	17: 46,825,391	I298V	probably damaging	Het
Cad	A	G	5: 31,061,770		probably benign	Het
Chd9	A	T	8: 91,042,116	Y2448F	probably benign	Het
Clstn3	A	G	6: 124,462,139	L16S	probably damaging	Het
Cmtr2	G	A	8: 110,222,869	V604M	possibly damaging	Het
Ctcf	A	T	8: 105,681,485		probably benign	Het
Eif2ak2	A	G	17: 78,865,371	I295T	probably damaging	Het
Foxm1	G	A	6: 128,370,967	R284H	possibly damaging	Het
Gabra2	T	C	5: 70,962,072	I362M	probably benign	Het
Hivep1	C	A	13: 42,159,984	P1900Q	probably benign	Het
Klhl25	G	T	7: 75,866,149	E268*	probably null	Het
Klk1b16	T	C	7: 44,140,678	L124P	probably damaging	Het
Ltf	A	T	9: 111,035,812		probably null	Het
Mpped2	T	A	2: 106,864,746	H248Q	probably damaging	Het
Mrpl1	T	A	5: 96,224,036		probably benign	Het
Mthfd1l	T	A	10: 4,028,428	S429R	probably damaging	Het
Myl2	G	A	5: 122,106,704	V146I	probably benign	Het
Myo10	T	A	15: 25,739,309	I527N	possibly damaging	Het
Ncoa3	T	C	2: 166,052,795	S333P	probably damaging	Het
Olfr1297	T	G	2: 111,621,340	T245P	probably damaging	Het
Olfr350	T	G	2: 36,850,270	S75A	probably damaging	Het
Oxct1	T	C	15: 4,053,764	F155S	probably damaging	Het
P4ha1	T	C	10: 59,339,335	V39A	probably damaging	Het
Padi6	G	T	4: 140,730,953	T514N	possibly damaging	Het
Pgm1	G	A	5: 64,107,796	V387I	probably damaging	Het
Ppt1	G	A	4: 122,844,007	C46Y	probably damaging	Het
Rnf225	T	C	7: 12,928,900		probably benign	Het
Rpl26	T	C	11: 68,902,398	Y42H	probably benign	Het
Rundc1	A	G	11: 101,434,142	N558S	probably damaging	Het
Sema3e	T	G	5: 14,233,718		probably null	Het
Slc8a1	T	C	17: 81,388,942	I888V	probably benign	Het
Thsd7b	T	C	1: 129,596,146	C306R	probably damaging	Het
Tmem38b	T	G	4: 53,849,024	V119G	probably damaging	Het
Trpc1	T	C	9: 95,726,494	D82G	probably damaging	Het
Zfp292	A	G	4: 34,806,763	F2094L	probably damaging	Het
Zfp638	C	T	6: 83,934,994	R453W	probably damaging	Het

Other mutations in Tmem209

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Tmem209	APN	6	30487417	missense	probably damaging	0.99
IGL02106:Tmem209	APN	6	30508660	splice site	probably null
IGL02109:Tmem209	APN	6	30497945	missense	probably damaging	1.00
IGL02250:Tmem209	APN	6	30487388	missense	probably damaging	1.00
R0012:Tmem209	UTSW	6	30502113	splice site	probably benign
R0426:Tmem209	UTSW	6	30491182	missense	probably damaging	0.99
R0452:Tmem209	UTSW	6	30487381	missense	probably damaging	1.00
R0557:Tmem209	UTSW	6	30501914	missense	probably damaging	0.99
R0690:Tmem209	UTSW	6	30505834	missense	probably null	1.00
R1202:Tmem209	UTSW	6	30508790	missense	probably benign	0.01
R1697:Tmem209	UTSW	6	30497868	missense	probably benign	0.00
R3821:Tmem209	UTSW	6	30505960	missense	probably damaging	1.00
R4795:Tmem209	UTSW	6	30501955	missense	probably benign	0.00
R5131:Tmem209	UTSW	6	30497167	missense	probably benign	0.00
R5715:Tmem209	UTSW	6	30497923	nonsense	probably null
R6030:Tmem209	UTSW	6	30482968	missense	probably damaging	1.00
R6030:Tmem209	UTSW	6	30482968	missense	probably damaging	1.00
R6153:Tmem209	UTSW	6	30505795	missense	probably benign	0.01
R6181:Tmem209	UTSW	6	30505971	missense	probably damaging	1.00
R6256:Tmem209	UTSW	6	30497167	missense	probably benign	0.00
R6721:Tmem209	UTSW	6	30497175	missense	probably benign	0.00
R6873:Tmem209	UTSW	6	30508456	missense	probably damaging	1.00
R7062:Tmem209	UTSW	6	30502017	missense	probably damaging	1.00
R7341:Tmem209	UTSW	6	30494795	missense	probably benign	0.00
R7461:Tmem209	UTSW	6	30508470	nonsense	probably null
R7790:Tmem209	UTSW	6	30497855	missense	probably damaging	1.00
R8354:Tmem209	UTSW	6	30489309	missense	probably damaging	0.97
R8454:Tmem209	UTSW	6	30489309	missense	probably damaging	0.97
R8527:Tmem209	UTSW	6	30497238	missense	probably damaging	1.00
R8542:Tmem209	UTSW	6	30497238	missense	probably damaging	1.00
R8889:Tmem209	UTSW	6	30497943	missense	possibly damaging	0.91
R8892:Tmem209	UTSW	6	30497943	missense	possibly damaging	0.91
R8928:Tmem209	UTSW	6	30489366	missense	probably damaging	1.00
R9222:Tmem209	UTSW	6	30506839	missense	probably damaging	0.98
RF020:Tmem209	UTSW	6	30487418	missense	probably benign	0.04

Posted On

2013-06-21