Mutagenetix > Incidental Mutation

Incidental Mutation 'R9579:Tmem150a'

722452

Institutional Source

Beutler Lab

Gene Symbol

Tmem150a

Ensembl Gene

ENSMUSG00000055912

Gene Name

transmembrane protein 150A

Synonyms

Tmem150

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.535) question?

Stock #

R9579 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72332466-72336745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 72334070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 51 (Q51K)

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: Q51K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000063977
Gene: ENSMUSG00000055912
AA Change: Q51K

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

possibly damaging
Transcript: ENSMUST00000132243
AA Change: Q51K

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138445
Gene: ENSMUSG00000055912
AA Change: Q51K

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: Q51K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000206531
AA Change: Q35K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	C	A	11: 46,009,262 (GRCm39)	H229N	probably benign	Het
Ak9	C	A	10: 41,213,576 (GRCm39)	H260Q		Het
Akap3	G	A	6: 126,850,974 (GRCm39)	V831I	probably damaging	Het
Arhgap45	T	C	10: 79,853,843 (GRCm39)	F119S	probably benign	Het
Best3	A	G	10: 116,829,100 (GRCm39)	T127A	probably damaging	Het
Ccdc7a	G	A	8: 129,774,134 (GRCm39)	Q134*	probably null	Het
Ceacam5	C	A	7: 17,479,561 (GRCm39)	S226Y	probably damaging	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Cul4a	G	A	8: 13,186,147 (GRCm39)	E450K	probably damaging	Het
Cyb5a	A	T	18: 84,891,273 (GRCm39)	R89S	probably benign	Het
Dnah2	A	G	11: 69,368,041 (GRCm39)	L1766P	probably damaging	Het
Gbp4	T	C	5: 105,270,947 (GRCm39)	E228G	probably damaging	Het
Ghr	A	G	15: 3,349,612 (GRCm39)	I522T	probably benign	Het
Gm5225	A	C	17: 24,242,897 (GRCm39)	H22P	possibly damaging	Het
Herc2	T	A	7: 55,758,500 (GRCm39)	C796S	probably damaging	Het
Hmgxb4	G	T	8: 75,756,638 (GRCm39)	A588S	probably damaging	Het
Lats2	G	A	14: 57,937,191 (GRCm39)	P433S	probably damaging	Het
Lrfn1	C	T	7: 28,166,769 (GRCm39)	T721I	probably damaging	Het
Matcap1	A	T	8: 106,012,379 (GRCm39)	S23T	probably benign	Het
Mpzl3	G	A	9: 44,973,350 (GRCm39)	V30I	probably benign	Het
Or2r3	A	T	6: 42,448,574 (GRCm39)	C179*	probably null	Het
Pcdh15	A	G	10: 74,457,117 (GRCm39)	Y1298C	possibly damaging	Het
Plcd4	C	A	1: 74,596,948 (GRCm39)	H397N	probably benign	Het
Pnn	G	A	12: 59,117,030 (GRCm39)	A201T	possibly damaging	Het
Ptprd	C	G	4: 75,872,315 (GRCm39)	A1134P	possibly damaging	Het
Rabl3	T	C	16: 37,362,230 (GRCm39)	V23A	probably damaging	Het
Rnf157	T	C	11: 116,240,822 (GRCm39)	N423S	probably benign	Het
Rtn1	T	C	12: 72,270,289 (GRCm39)	D601G	probably damaging	Het
Rxfp1	A	G	3: 79,557,946 (GRCm39)	Y511H	probably damaging	Het
Sema5b	T	C	16: 35,467,582 (GRCm39)	M282T	probably benign	Het
Slco5a1	G	T	1: 12,949,383 (GRCm39)	S669*	probably null	Het
Sphkap	C	G	1: 83,255,295 (GRCm39)	G818A	probably damaging	Het
Stk26	C	T	X: 49,930,618 (GRCm39)		probably benign	Het
Syne3	T	C	12: 104,942,107 (GRCm39)	S12G	probably damaging	Het
Ttn	C	T	2: 76,550,196 (GRCm39)	D31662N	probably damaging	Het
Ttn	C	T	2: 76,578,602 (GRCm39)	G24097D	probably damaging	Het
Tubb4b	T	C	2: 25,114,139 (GRCm39)	T55A	probably benign	Het
Vcan	A	T	13: 89,837,713 (GRCm39)	D2610E	possibly damaging	Het
Xkr5	T	C	8: 18,983,785 (GRCm39)	T586A	probably benign	Het
Zfp260	T	C	7: 29,805,108 (GRCm39)	F336S		Het
Zic1	A	G	9: 91,246,790 (GRCm39)	F94S	probably 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
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

Predicted Primers

PCR Primer
(F):5'- AGGCATGACATCCTGTTCATC -3'
(R):5'- TGCCCAGCTCCTAGAAATAGC -3'

Sequencing Primer
(F):5'- ATGACATCCTGTTCATCTGCCCAC -3'
(R):5'- ACTGCTTTCCAAGAGCTAGG -3'

Posted On

2022-08-09