Mutagenetix > Incidental Mutation

Incidental Mutation 'R5247:Tmem151b'

401214

Institutional Source

Beutler Lab

Gene Symbol

Tmem151b

Ensembl Gene

ENSMUSG00000096847

Gene Name

transmembrane protein 151B

Synonyms

LOC210573

MMRRC Submission

042818-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5247 (G1)

Quality Score

114

Status

Not validated

Chromosome

Chromosomal Location

45852878-45860603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45856571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 290 (Y290N)

Ref Sequence

ENSEMBL: ENSMUSP00000136337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113547] [ENSMUST00000180252]

AlphaFold

Q68FE7

Predicted Effect

probably benign
Transcript: ENSMUST00000113547

SMART Domains

Protein: ENSMUSP00000109175
Gene: ENSMUSG00000023949

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
low complexity region	28	47	N/A	INTRINSIC
low complexity region	206	222	N/A	INTRINSIC
Blast:LRR	235	274	7e-14	BLAST
LRR	304	331	5.02e-6	SMART
LRR	332	358	1.28e-3	SMART
LRR	359	386	5.81e-2	SMART
LRR	387	414	2.05e-2	SMART
LRR	415	442	1.13e-4	SMART
Blast:LRR	443	470	3e-8	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000180252
AA Change: Y290N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136337
Gene: ENSMUSG00000096847
AA Change: Y290N

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
Pfam:TMEM151	40	486	2e-213	PFAM
low complexity region	511	518	N/A	INTRINSIC
low complexity region	542	556	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankar	A	T	1: 72,719,343 (GRCm39)	V502E	probably benign	Het
Atad2	A	T	15: 57,967,874 (GRCm39)	L585*	probably null	Het
Atp6v0a2	T	C	5: 124,790,241 (GRCm39)	S475P	probably damaging	Het
Cacng1	T	C	11: 107,607,105 (GRCm39)	H38R	probably benign	Het
Ccdc168	A	C	1: 44,096,166 (GRCm39)	L1644*	probably null	Het
Celsr2	A	G	3: 108,304,946 (GRCm39)	V2168A	probably benign	Het
Cnot4	C	T	6: 35,028,351 (GRCm39)	V422I	probably damaging	Het
Col1a1	T	C	11: 94,838,013 (GRCm39)		probably null	Het
Cspg4b	A	T	13: 113,455,993 (GRCm39)	I680F	probably damaging	Het
Ctcfl	A	T	2: 172,955,402 (GRCm39)	C287S	probably damaging	Het
Eps8l1	T	A	7: 4,473,401 (GRCm39)	D133E	probably damaging	Het
Fam161b	A	G	12: 84,404,524 (GRCm39)	L52P	probably damaging	Het
Fam98c	T	C	7: 28,855,126 (GRCm39)	E99G	possibly damaging	Het
Fmn2	A	T	1: 174,648,794 (GRCm39)	I1574L	probably benign	Het
Gabrb3	T	A	7: 57,240,339 (GRCm39)	L8Q	possibly damaging	Het
Hck	A	T	2: 152,976,615 (GRCm39)	K250*	probably null	Het
Herc1	A	G	9: 66,341,833 (GRCm39)	E1874G	probably benign	Het
Igf2	G	T	7: 142,207,668 (GRCm39)	A143D	possibly damaging	Het
Isg20l2	A	G	3: 87,838,920 (GRCm39)	N44D	possibly damaging	Het
Kdm7a	T	A	6: 39,121,390 (GRCm39)	Q855L	probably benign	Het
Kif15	T	C	9: 122,815,507 (GRCm39)	S434P	possibly damaging	Het
Klrc3	A	T	6: 129,618,425 (GRCm39)	N119K	probably damaging	Het
L3mbtl3	T	C	10: 26,203,706 (GRCm39)	M375V	unknown	Het
Lpcat4	A	G	2: 112,072,860 (GRCm39)	H173R	possibly damaging	Het
Mapk13	A	T	17: 28,996,725 (GRCm39)	Q264L	probably benign	Het
Mrps18c	C	G	5: 100,946,659 (GRCm39)	C8W	probably damaging	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nlrp4b	T	A	7: 10,448,145 (GRCm39)	I116N	probably benign	Het
Or10h1	A	G	17: 33,418,504 (GRCm39)	T161A	probably benign	Het
Or5b124	T	A	19: 13,610,778 (GRCm39)	F101Y	probably damaging	Het
Prdm1	A	T	10: 44,316,098 (GRCm39)	H679Q	probably damaging	Het
Prickle2	T	A	6: 92,352,950 (GRCm39)	S839C	probably damaging	Het
Rps19	T	A	7: 24,584,878 (GRCm39)	S36T	probably damaging	Het
Serpinb1a	T	A	13: 33,034,389 (GRCm39)	M1L	probably damaging	Het
Slc16a7	A	T	10: 125,067,183 (GRCm39)	M152K	probably damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Stx18	A	T	5: 38,263,977 (GRCm39)	Y141F	probably damaging	Het
Tgfb2	A	T	1: 186,382,111 (GRCm39)		probably null	Het
Tle7	T	C	8: 110,837,209 (GRCm39)	F299S	probably damaging	Het
Ttn	G	A	2: 76,558,766 (GRCm39)	T29705M	probably damaging	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Usp19	T	G	9: 108,373,264 (GRCm39)		probably null	Het

Other mutations in Tmem151b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1470:Tmem151b	UTSW	17	45,856,663 (GRCm39)	missense	probably damaging	0.98
R1470:Tmem151b	UTSW	17	45,856,663 (GRCm39)	missense	probably damaging	0.98
R1668:Tmem151b	UTSW	17	45,856,831 (GRCm39)	missense	probably damaging	1.00
R1980:Tmem151b	UTSW	17	45,856,387 (GRCm39)	missense	possibly damaging	0.72
R5124:Tmem151b	UTSW	17	45,858,045 (GRCm39)	missense	probably damaging	1.00
R5602:Tmem151b	UTSW	17	45,856,526 (GRCm39)	missense	probably damaging	1.00
R5872:Tmem151b	UTSW	17	45,858,010 (GRCm39)	missense	probably benign	0.06
R6001:Tmem151b	UTSW	17	45,856,711 (GRCm39)	missense	probably damaging	1.00
R6165:Tmem151b	UTSW	17	45,856,711 (GRCm39)	missense	probably damaging	1.00
R6263:Tmem151b	UTSW	17	45,857,992 (GRCm39)	missense	probably benign	0.04
R7340:Tmem151b	UTSW	17	45,856,195 (GRCm39)	missense	probably benign	0.28
R7664:Tmem151b	UTSW	17	45,856,861 (GRCm39)	missense	probably damaging	1.00
R7684:Tmem151b	UTSW	17	45,857,929 (GRCm39)	missense	probably damaging	1.00
R7703:Tmem151b	UTSW	17	45,856,724 (GRCm39)	missense	probably damaging	0.98
R8506:Tmem151b	UTSW	17	45,856,327 (GRCm39)	missense	probably damaging	1.00
R9135:Tmem151b	UTSW	17	45,856,355 (GRCm39)	missense	possibly damaging	0.68
R9295:Tmem151b	UTSW	17	45,857,806 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TTAGAACGGATGTGCCACTCG -3'
(R):5'- ACCAAGTGCTTCAGCTTCG -3'

Sequencing Primer
(F):5'- ACGGATGTGCCACTCGAGTTC -3'
(R):5'- CTTCGCCAGCGTGGAGG -3'

Posted On

2016-07-06