Mutagenetix > Incidental Mutation

Incidental Mutation 'R0070:Tmem150a'

17072

Institutional Source

Beutler Lab

Gene Symbol

Tmem150a

Ensembl Gene

ENSMUSG00000055912

Gene Name

transmembrane protein 150A

Synonyms

Tmem150

MMRRC Submission

038361-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.543) question?

Stock #

R0070 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

72332466-72336745 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 72335742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069580] [ENSMUST00000069595] [ENSMUST00000069695] [ENSMUST00000114095] [ENSMUST00000132243] [ENSMUST00000206531] [ENSMUST00000206064] [ENSMUST00000130064] [ENSMUST00000151063] [ENSMUST00000149296] [ENSMUST00000154098]

AlphaFold

Q91WN2

Predicted Effect

probably benign
Transcript: ENSMUST00000069580

SMART Domains

Protein: ENSMUSP00000066128
Gene: ENSMUSG00000055850

Domain	Start	End	E-Value	Type
RING	88	128	5.51e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000069595

SMART Domains

Protein: ENSMUSP00000070370
Gene: ENSMUSG00000055850

Domain	Start	End	E-Value	Type
RING	20	60	5.51e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000069695

SMART Domains

Protein: ENSMUSP00000063977
Gene: ENSMUSG00000055912

Domain	Start	End	E-Value	Type
Pfam:Frag1	3	232	3.8e-63	PFAM
low complexity region	251	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114095

SMART Domains

Protein: ENSMUSP00000109729
Gene: ENSMUSG00000055850

Domain	Start	End	E-Value	Type
RING	88	155	2.82e-4	SMART
low complexity region	185	196	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125554

Predicted Effect

probably benign
Transcript: ENSMUST00000126065

Predicted Effect

probably benign
Transcript: ENSMUST00000129233

Predicted Effect

probably null
Transcript: ENSMUST00000132243

SMART Domains

Protein: ENSMUSP00000138445
Gene: ENSMUSG00000055912

Domain	Start	End	E-Value	Type
Pfam:Frag1	3	69	7.2e-12	PFAM
low complexity region	139	154	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000206531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133978

Predicted Effect

probably benign
Transcript: ENSMUST00000206064

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136707

Predicted Effect

probably benign
Transcript: ENSMUST00000130064

SMART Domains

Protein: ENSMUSP00000115187
Gene: ENSMUSG00000055850

Domain	Start	End	E-Value	Type
RING	32	72	5.51e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151063

Predicted Effect

probably benign
Transcript: ENSMUST00000149296

Predicted Effect

probably benign
Transcript: ENSMUST00000154098

SMART Domains

Protein: ENSMUSP00000138327
Gene: ENSMUSG00000055850

Domain	Start	End	E-Value	Type
RING	41	81	5.51e-7	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 88.0%
3x: 83.9%
10x: 69.3%
20x: 41.9%

Validation Efficiency

88% (67/76)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,109,154 (GRCm39)	I387T	probably damaging	Het
Ankfn1	A	T	11: 89,283,128 (GRCm39)	L173Q	probably damaging	Het
Atp2a1	T	C	7: 126,046,624 (GRCm39)	E892G	probably benign	Het
AU018091	T	C	7: 3,208,738 (GRCm39)		probably null	Het
Capn12	T	C	7: 28,588,551 (GRCm39)		probably benign	Het
Capn2	C	A	1: 182,301,434 (GRCm39)		probably benign	Het
Cd79b	A	G	11: 106,202,744 (GRCm39)		probably benign	Het
Cdh20	C	T	1: 110,026,102 (GRCm39)	A446V	probably benign	Het
Ciapin1	T	C	8: 95,551,847 (GRCm39)	N246S	possibly damaging	Het
Flt3	A	G	5: 147,309,536 (GRCm39)		probably benign	Het
Gm2027	T	A	12: 44,269,145 (GRCm39)		probably benign	Het
Hipk2	G	A	6: 38,795,919 (GRCm39)	R117*	probably null	Het
Hycc1	T	C	5: 24,169,997 (GRCm39)	S451G	probably damaging	Het
Hykk	T	A	9: 54,829,632 (GRCm39)		probably benign	Het
Kansl1l	T	C	1: 66,840,262 (GRCm39)	D346G	probably damaging	Het
Kcnt1	T	C	2: 25,782,374 (GRCm39)	V191A	probably benign	Het
Lcorl	G	A	5: 45,891,043 (GRCm39)	R437C	probably damaging	Het
Mtch1	T	A	17: 29,559,033 (GRCm39)		probably benign	Het
Myo1c	A	G	11: 75,551,076 (GRCm39)	N217S	probably benign	Het
Nav2	A	G	7: 49,220,462 (GRCm39)	E1669G	probably damaging	Het
Or2h15	A	G	17: 38,441,780 (GRCm39)	L101P	probably damaging	Het
Or2w4	T	C	13: 21,795,431 (GRCm39)	K236R	possibly damaging	Het
Or5p51	T	G	7: 107,444,124 (GRCm39)	D272A	probably damaging	Het
Phf20l1	T	G	15: 66,511,840 (GRCm39)	W940G	probably damaging	Het
Pi4k2b	A	C	5: 52,914,260 (GRCm39)	D309A	probably damaging	Het
Pkd2	T	C	5: 104,614,856 (GRCm39)	C233R	probably damaging	Het
Prkd3	A	G	17: 79,261,939 (GRCm39)	Y792H	probably damaging	Het
Pxdn	T	C	12: 30,032,726 (GRCm39)	L146S	probably damaging	Het
Serpinh1	A	T	7: 98,998,521 (GRCm39)	S36R	probably damaging	Het
Setx	A	T	2: 29,051,537 (GRCm39)	T2030S	probably benign	Het
Sin3b	T	A	8: 73,452,210 (GRCm39)	H105Q	probably damaging	Het
Slx4	A	T	16: 3,805,880 (GRCm39)	D557E	possibly damaging	Het
Stag1	C	T	9: 100,838,461 (GRCm39)	P1238S	probably null	Het
Stra6	C	T	9: 58,059,898 (GRCm39)		probably benign	Het
Taok1	T	A	11: 77,444,543 (GRCm39)	M511L	probably benign	Het
Tmem127	T	C	2: 127,098,979 (GRCm39)	V171A	probably damaging	Het
Tmem147	T	C	7: 30,427,526 (GRCm39)	Y97C	probably damaging	Het
Top2a	C	G	11: 98,905,886 (GRCm39)		probably null	Het
Zc3hav1l	A	T	6: 38,272,125 (GRCm39)	S215T	probably damaging	Het
Zscan20	C	T	4: 128,479,675 (GRCm39)	V939I	possibly damaging	Het

Other mutations in Tmem150a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Tmem150a	APN	6	72,334,101 (GRCm39)	missense	probably damaging	0.96
R0070:Tmem150a	UTSW	6	72,335,742 (GRCm39)	splice site	probably null
R4474:Tmem150a	UTSW	6	72,334,035 (GRCm39)	missense	probably benign	0.27
R6170:Tmem150a	UTSW	6	72,333,728 (GRCm39)	missense	probably benign	0.03
R7506:Tmem150a	UTSW	6	72,333,753 (GRCm39)	critical splice donor site	probably null
R7723:Tmem150a	UTSW	6	72,336,057 (GRCm39)	missense	probably damaging	0.96
R7751:Tmem150a	UTSW	6	72,336,028 (GRCm39)	missense	probably damaging	1.00
R7783:Tmem150a	UTSW	6	72,335,606 (GRCm39)	missense	unknown
R8078:Tmem150a	UTSW	6	72,335,306 (GRCm39)	missense	probably damaging	0.98
R9197:Tmem150a	UTSW	6	72,333,722 (GRCm39)	missense	probably benign	0.45
R9579:Tmem150a	UTSW	6	72,334,070 (GRCm39)	missense	probably benign	0.02

Posted On

2013-01-20