Mutagenetix > Incidental Mutation

Incidental Mutation 'R9197:Tmem150a'

697981

Institutional Source

Beutler Lab

Gene Symbol

Tmem150a

Ensembl Gene

ENSMUSG00000055912

Gene Name

transmembrane protein 150A

Synonyms

Tmem150

MMRRC Submission

068956-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.535) question?

Stock #

R9197 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72332466-72336745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 72333722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 28 (M28R)

Ref Sequence

ENSEMBL: ENSMUSP00000063977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069580] [ENSMUST00000069595] [ENSMUST00000069695] [ENSMUST00000077783] [ENSMUST00000114095] [ENSMUST00000130064] [ENSMUST00000132243] [ENSMUST00000149296] [ENSMUST00000151063] [ENSMUST00000154098] [ENSMUST00000206064] [ENSMUST00000206531]

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 benign
Transcript: ENSMUST00000069695
AA Change: M28R

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063977
Gene: ENSMUSG00000055912
AA Change: M28R

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: ENSMUST00000077783

SMART Domains

Protein: ENSMUSP00000076957
Gene: ENSMUSG00000058706

Domain	Start	End	E-Value	Type
Pfam:UPF0561	1	126	4.4e-67	PFAM

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 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: ENSMUST00000132243
AA Change: M28R

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138445
Gene: ENSMUSG00000055912
AA Change: M28R

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: ENSMUST00000149296

Predicted Effect

probably benign
Transcript: ENSMUST00000151063

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206064
AA Change: M28R

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000206531

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC048679	C	T	7: 81,144,966 (GRCm39)	V126M	probably benign	Het
Brd2	T	C	17: 34,333,370 (GRCm39)	Y427C	probably damaging	Het
Btbd1	T	A	7: 81,443,363 (GRCm39)	T474S	probably damaging	Het
Cacna1c	T	C	6: 118,590,950 (GRCm39)	T1524A		Het
Capn9	T	A	8: 125,340,600 (GRCm39)	V588D	probably damaging	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Ccr3	T	C	9: 123,829,732 (GRCm39)	S356P	probably damaging	Het
Cplane1	A	T	15: 8,280,536 (GRCm39)	I2820F	unknown	Het
Cyfip1	C	T	7: 55,554,222 (GRCm39)	H754Y	probably null	Het
Dolk	A	G	2: 30,174,693 (GRCm39)	S451P	probably damaging	Het
Elac2	G	A	11: 64,892,682 (GRCm39)	A829T	probably benign	Het
Fahd2a	T	C	2: 127,278,284 (GRCm39)	I308V	possibly damaging	Het
Gm7168	T	A	17: 14,169,489 (GRCm39)	N285K	probably benign	Het
Hgf	T	A	5: 16,766,059 (GRCm39)	V65E	probably benign	Het
Igsf21	A	T	4: 139,762,084 (GRCm39)	L198Q	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ipo4	C	T	14: 55,870,840 (GRCm39)	R264H	probably damaging	Het
Jak2	C	T	19: 29,289,157 (GRCm39)	T1103I	probably benign	Het
Kdm4d	T	A	9: 14,375,537 (GRCm39)	Y107F	probably damaging	Het
Lad1	T	A	1: 135,759,630 (GRCm39)	S509T	probably benign	Het
Lhx5	C	A	5: 120,573,446 (GRCm39)	P143Q	possibly damaging	Het
Lilra6	T	C	7: 3,915,716 (GRCm39)	T340A	possibly damaging	Het
Lrrc4	T	C	6: 28,831,318 (GRCm39)	H99R	probably benign	Het
Mmp11	T	A	10: 75,763,067 (GRCm39)	D175V	probably damaging	Het
Msh2	T	A	17: 88,026,943 (GRCm39)	M813K	possibly damaging	Het
Mvp	T	C	7: 126,588,959 (GRCm39)	N603D	probably damaging	Het
Or5k3	T	A	16: 58,969,489 (GRCm39)	I92N	probably damaging	Het
Or8c18	G	A	9: 38,204,080 (GRCm39)	V280M	possibly damaging	Het
Pcdha2	A	C	18: 37,072,879 (GRCm39)	Y170S	probably damaging	Het
Pcdhb19	G	A	18: 37,631,354 (GRCm39)	C383Y	probably damaging	Het
Pcdhga2	A	T	18: 37,804,553 (GRCm39)	D799V	probably benign	Het
Pias3	A	G	3: 96,611,064 (GRCm39)	Y430C	probably benign	Het
Pign	A	G	1: 105,516,818 (GRCm39)	F575L	probably benign	Het
Rin3	A	T	12: 102,335,306 (GRCm39)	I406F	probably benign	Het
Rpgrip1	A	T	14: 52,382,857 (GRCm39)	E674D	possibly damaging	Het
Snx13	T	C	12: 35,155,196 (GRCm39)	V420A	probably benign	Het
Spata31d1c	A	T	13: 65,183,690 (GRCm39)	M411L	probably benign	Het
Spata31h1	C	A	10: 82,120,401 (GRCm39)	C4203F	possibly damaging	Het
Trp53	T	C	11: 69,480,000 (GRCm39)	Y233H	probably damaging	Het
Ufl1	A	G	4: 25,250,519 (GRCm39)	I778T	possibly damaging	Het
Vmn2r89	T	A	14: 51,693,596 (GRCm39)	H315Q	possibly damaging	Het
Wapl	T	A	14: 34,444,244 (GRCm39)	N565K	probably damaging	Het
Zfhx2	G	A	14: 55,312,179 (GRCm39)	Q172*	probably null	Het
Zfp592	T	A	7: 80,674,067 (GRCm39)	S344T	possibly damaging	Het
Zfp970	T	C	2: 177,167,878 (GRCm39)	I484T	probably benign	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
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
R9579:Tmem150a	UTSW	6	72,334,070 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGCTCTCTAGTGGAGGCAATTG -3'
(R):5'- CCTTCCTGAAGCAGAAGCAAAG -3'

Sequencing Primer
(F):5'- TGAGGCTGAATGAGGTCA -3'
(R):5'- TTCCTGAAGCAGAAGCAAAGAAGATG -3'

Posted On

2022-02-07