Mutagenetix > Incidental Mutation

Incidental Mutation 'R2197:Tmem150b'

238411

Institutional Source

Beutler Lab

Gene Symbol

Tmem150b

Ensembl Gene

ENSMUSG00000046456

Gene Name

transmembrane protein 150B

Synonyms

Tmem224

MMRRC Submission

040199-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R2197 (G1)

Quality Score

164

Status

Not validated

Chromosome

Chromosomal Location

4709831-4728248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4719353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 189 (V189A)

Ref Sequence

ENSEMBL: ENSMUSP00000083549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048248] [ENSMUST00000086363] [ENSMUST00000086364] [ENSMUST00000120836]

AlphaFold

Q8R218

Predicted Effect

probably benign
Transcript: ENSMUST00000048248

SMART Domains

Protein: ENSMUSP00000039517
Gene: ENSMUSG00000035390

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
low complexity region	13	30	N/A	INTRINSIC
S_TKc	34	285	6.75e-103	SMART
low complexity region	330	344	N/A	INTRINSIC
low complexity region	430	457	N/A	INTRINSIC
low complexity region	492	517	N/A	INTRINSIC
low complexity region	523	552	N/A	INTRINSIC
low complexity region	668	686	N/A	INTRINSIC
low complexity region	746	764	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000086363
AA Change: V189A

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000083549
Gene: ENSMUSG00000046456
AA Change: V189A

Domain	Start	End	E-Value	Type
Pfam:Frag1	4	207	7.1e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086364

SMART Domains

Protein: ENSMUSP00000083550
Gene: ENSMUSG00000046456

Domain	Start	End	E-Value	Type
Pfam:Frag1	4	114	1.5e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120836

SMART Domains

Protein: ENSMUSP00000113448
Gene: ENSMUSG00000035390

Domain	Start	End	E-Value	Type
S_TKc	1	210	1.19e-71	SMART
low complexity region	255	269	N/A	INTRINSIC
low complexity region	355	382	N/A	INTRINSIC
low complexity region	417	442	N/A	INTRINSIC
low complexity region	448	477	N/A	INTRINSIC
low complexity region	593	611	N/A	INTRINSIC
low complexity region	671	689	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the DRAM (damage-regulated autophagy modulator) family of membrane-spanning proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	A	T	11: 102,660,750 (GRCm39)	I94F	possibly damaging	Het
Ankrd50	A	T	3: 38,509,741 (GRCm39)	D875E	probably damaging	Het
Arf3	T	C	15: 98,639,285 (GRCm39)	N60S	probably benign	Het
Atxn2	T	G	5: 121,944,280 (GRCm39)		probably null	Het
B3gnt8	A	T	7: 25,328,373 (GRCm39)	I268F	probably benign	Het
Bmp1	T	A	14: 70,723,712 (GRCm39)	D708V	possibly damaging	Het
C1s2	A	G	6: 124,609,069 (GRCm39)	S163P	probably damaging	Het
C3	A	G	17: 57,526,623 (GRCm39)	I786T	probably benign	Het
Cacna2d2	T	A	9: 107,404,602 (GRCm39)	L1138Q	probably damaging	Het
Cage1	T	A	13: 38,207,029 (GRCm39)	Y272F	probably damaging	Het
Cd300ld	A	T	11: 114,875,058 (GRCm39)	M192K	possibly damaging	Het
Cdc5l	A	T	17: 45,718,745 (GRCm39)	F624I	probably benign	Het
Cdh8	T	A	8: 99,922,897 (GRCm39)	Q333L	probably damaging	Het
Ciapin1	T	A	8: 95,555,787 (GRCm39)	K128*	probably null	Het
Col6a3	T	A	1: 90,731,467 (GRCm39)	E988D	probably benign	Het
Crip3	A	G	17: 46,740,338 (GRCm39)	E46G	probably damaging	Het
D5Ertd579e	A	G	5: 36,772,137 (GRCm39)	S753P	possibly damaging	Het
Dock6	T	A	9: 21,744,177 (GRCm39)	D126V	probably damaging	Het
Duxf4	T	A	10: 58,072,158 (GRCm39)	I19F	possibly damaging	Het
Dvl3	A	G	16: 20,342,506 (GRCm39)	E153G	probably damaging	Het
Epas1	A	T	17: 87,136,471 (GRCm39)	M748L	probably benign	Het
Exoc8	A	G	8: 125,622,477 (GRCm39)	L630P	probably damaging	Het
Fam227a	G	A	15: 79,507,668 (GRCm39)	T454M	probably damaging	Het
Flnc	A	T	6: 29,459,134 (GRCm39)	D2472V	probably damaging	Het
Galnt4	G	A	10: 98,944,509 (GRCm39)	G78E	probably damaging	Het
Ghr	A	T	15: 3,362,956 (GRCm39)	L172*	probably null	Het
Gjb5	A	T	4: 127,250,063 (GRCm39)		probably null	Het
Hdac5	T	C	11: 102,095,340 (GRCm39)	D427G	probably damaging	Het
Hsd17b4	G	A	18: 50,316,369 (GRCm39)		probably null	Het
Kcnab1	T	C	3: 65,017,368 (GRCm39)	I59T	probably benign	Het
Kcnh7	A	G	2: 62,607,950 (GRCm39)	Y544H	probably damaging	Het
Kdm7a	A	G	6: 39,123,870 (GRCm39)	S765P	probably damaging	Het
Lama1	A	T	17: 68,059,936 (GRCm39)	H675L	probably benign	Het
Lemd3	CCCTCCTCCTCCTCCTCCTCC	CCCTCCTCCTCCTCCTCC	10: 120,814,432 (GRCm39)		probably benign	Het
Llgl1	T	C	11: 60,600,865 (GRCm39)	S654P	possibly damaging	Het
Lvrn	G	T	18: 47,011,409 (GRCm39)	M455I	probably benign	Het
Mfsd12	T	A	10: 81,193,568 (GRCm39)	L46Q	probably damaging	Het
Mtcl1	A	T	17: 66,673,427 (GRCm39)	M783K	probably benign	Het
Mthfd1l	A	T	10: 3,978,399 (GRCm39)	T420S	probably damaging	Het
Mybphl	T	A	3: 108,284,635 (GRCm39)	I294N	probably damaging	Het
Or4c52	G	A	2: 89,845,768 (GRCm39)	G165S	probably damaging	Het
Or4f14b	T	C	2: 111,775,658 (GRCm39)	T48A	possibly damaging	Het
Or52ab7	T	A	7: 102,977,831 (GRCm39)	L46*	probably null	Het
Oxa1l	A	T	14: 54,598,924 (GRCm39)	Q70L	probably benign	Het
Pcdhac2	A	T	18: 37,279,185 (GRCm39)	I722F	probably damaging	Het
Pde4d	A	G	13: 110,084,924 (GRCm39)	D460G	probably damaging	Het
Pth1r	CGGG	CGGGGGG	9: 110,556,058 (GRCm39)		probably benign	Het
Rab11fip3	A	G	17: 26,287,152 (GRCm39)	S334P	probably benign	Het
Ror2	C	T	13: 53,439,816 (GRCm39)		probably null	Het
Scnn1g	G	C	7: 121,366,519 (GRCm39)	W572S	probably damaging	Het
Skint5	G	A	4: 113,798,046 (GRCm39)	S179L	probably damaging	Het
Slc22a2	G	T	17: 12,817,949 (GRCm39)	G175V	probably damaging	Het
Spaca6	G	A	17: 18,056,416 (GRCm39)		probably null	Het
Tbc1d30	C	T	10: 121,140,312 (GRCm39)	R207H	probably damaging	Het
Tdrd5	A	G	1: 156,087,435 (GRCm39)	I829T	probably benign	Het
Tmcc3	T	C	10: 94,414,780 (GRCm39)	S161P	probably damaging	Het
Tmem248	A	G	5: 130,260,597 (GRCm39)	D54G	probably benign	Het
Trmt1	T	A	8: 85,417,487 (GRCm39)	S121T	probably damaging	Het
Tyk2	C	T	9: 21,026,503 (GRCm39)	V698M	probably damaging	Het
Usp17la	A	G	7: 104,509,919 (GRCm39)	R175G	probably damaging	Het
Vav1	A	G	17: 57,610,140 (GRCm39)	N464S	probably benign	Het
Vmn2r57	T	G	7: 41,078,249 (GRCm39)		probably null	Het
Vmn2r78	A	G	7: 86,570,535 (GRCm39)	Y351C	probably damaging	Het

Other mutations in Tmem150b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Tmem150b	APN	7	4,726,896 (GRCm39)	missense	probably benign	0.01
R1769:Tmem150b	UTSW	7	4,727,365 (GRCm39)	missense	probably damaging	1.00
R1888:Tmem150b	UTSW	7	4,712,044 (GRCm39)	missense	probably benign	0.31
R1888:Tmem150b	UTSW	7	4,712,044 (GRCm39)	missense	probably benign	0.31
R3408:Tmem150b	UTSW	7	4,727,339 (GRCm39)	missense	probably damaging	1.00
R3872:Tmem150b	UTSW	7	4,727,360 (GRCm39)	nonsense	probably null
R4820:Tmem150b	UTSW	7	4,726,871 (GRCm39)	missense	probably damaging	1.00
R5412:Tmem150b	UTSW	7	4,719,368 (GRCm39)	missense	probably null	0.54
R6280:Tmem150b	UTSW	7	4,727,373 (GRCm39)	missense	probably benign	0.00
R7427:Tmem150b	UTSW	7	4,719,209 (GRCm39)	missense	probably benign	0.29
R7658:Tmem150b	UTSW	7	4,723,758 (GRCm39)	missense	probably benign	0.00
R8015:Tmem150b	UTSW	7	4,719,327 (GRCm39)	missense	probably null	1.00
R8209:Tmem150b	UTSW	7	4,723,691 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GAATGTCCACATCAGCCTCC -3'
(R):5'- AGTGTGACTAGACATGCCGG -3'

Sequencing Primer
(F):5'- TTCTTCCTCTATCAGTAGCAAGGGG -3'
(R):5'- TGACTAGACATGCCGGGTGAG -3'

Posted On

2014-10-02