Mutagenetix > Incidental Mutation

Incidental Mutation 'R6001:Tmem151b'

480850

Institutional Source

Beutler Lab

Gene Symbol

Tmem151b

Ensembl Gene

ENSMUSG00000096847

Gene Name

transmembrane protein 151B

Synonyms

LOC210573

MMRRC Submission

044180-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6001 (G1)

Quality Score

184.009

Status

Not validated

Chromosome

Chromosomal Location

45852878-45860603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45856711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 243 (Y243C)

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: Y243C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136337
Gene: ENSMUSG00000096847
AA Change: Y243C

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: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	T	4: 53,075,555 (GRCm39)	R999S	possibly damaging	Het
Ankrd31	T	A	13: 96,962,717 (GRCm39)	Y503N	probably damaging	Het
Anks4b	A	G	7: 119,781,941 (GRCm39)	E324G	probably benign	Het
Arhgap44	CTGCT	CTGCTTGCT	11: 64,922,910 (GRCm39)		probably null	Het
Atl1	A	T	12: 69,979,057 (GRCm39)	T162S	possibly damaging	Het
Atp2b2	A	G	6: 113,770,728 (GRCm39)	Y394H	probably damaging	Het
Dennd2d	A	G	3: 106,399,776 (GRCm39)	H233R	probably benign	Het
Dhx16	G	T	17: 36,194,766 (GRCm39)	M462I	probably damaging	Het
Hif3a	T	C	7: 16,784,486 (GRCm39)	Y253C	probably damaging	Het
Hsf4	G	A	8: 105,999,541 (GRCm39)	G277R	possibly damaging	Het
Impg1	T	C	9: 80,223,454 (GRCm39)	D754G	probably benign	Het
Keap1	T	C	9: 21,142,135 (GRCm39)	S580G	possibly damaging	Het
Lrp6	T	C	6: 134,441,481 (GRCm39)	K1162E	probably benign	Het
Lrrc31	C	T	3: 30,745,318 (GRCm39)	V110I	possibly damaging	Het
Muc5b	G	T	7: 141,426,118 (GRCm39)	K4738N	possibly damaging	Het
Myo1a	G	T	10: 127,542,794 (GRCm39)		probably null	Het
Odad2	T	C	18: 7,286,838 (GRCm39)	D131G	probably benign	Het
Or10q1b	A	G	19: 13,682,424 (GRCm39)	T78A	probably damaging	Het
Or52z14	T	A	7: 103,253,179 (GRCm39)	M106K	probably damaging	Het
Or7g19	A	T	9: 18,856,340 (GRCm39)	Y132F	probably damaging	Het
Parp4	A	T	14: 56,878,740 (GRCm39)	H1225L	probably benign	Het
Pcgf2	T	C	11: 97,583,606 (GRCm39)	Y52C	possibly damaging	Het
Pkn3	T	C	2: 29,978,596 (GRCm39)		probably null	Het
Psen2	C	A	1: 180,073,234 (GRCm39)	R29L	possibly damaging	Het
Rfx6	A	G	10: 51,594,307 (GRCm39)		probably null	Het
Rps13	T	C	7: 115,930,808 (GRCm39)	T145A	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsf1	A	ACGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Smarca4	C	T	9: 21,544,205 (GRCm39)		probably benign	Het
Stat4	A	T	1: 52,136,026 (GRCm39)	E445V	probably damaging	Het
Taf13	T	A	3: 108,488,387 (GRCm39)	I90N	probably damaging	Het
Tas2r124	T	A	6: 132,732,416 (GRCm39)	Y242N	probably damaging	Het
Wasl	T	C	6: 24,619,573 (GRCm39)	T316A	unknown	Het
Zbtb44	T	C	9: 30,965,090 (GRCm39)	C167R	probably damaging	Het
Zc3h7b	T	C	15: 81,676,236 (GRCm39)	L714P	possibly damaging	Het
Zfp35	T	A	18: 24,135,816 (GRCm39)	H53Q	probably benign	Het
Zfp804b	A	G	5: 6,819,043 (GRCm39)	V1340A	probably benign	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
R5247:Tmem151b	UTSW	17	45,856,571 (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
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'- ACGTGATAGTGCGCATACG -3'
(R):5'- AAAAGCTGCAGTCTGCTCCC -3'

Sequencing Primer
(F):5'- GGCCAGGACAGCGTGAG -3'
(R):5'- GACTCCAACTTCCTCCTGCAGG -3'

Posted On

2017-06-26