Mutagenetix > Incidental Mutation

Incidental Mutation 'R5098:Tmem126b'

388128

Institutional Source

Beutler Lab

Gene Symbol

Tmem126b

Ensembl Gene

ENSMUSG00000030614

Gene Name

transmembrane protein 126B

Synonyms

MMRRC Submission

042687-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R5098 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90467438-90476001 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90469642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 146 (L146P)

Ref Sequence

ENSEMBL: ENSMUSP00000032843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032843]

AlphaFold

Q9D1R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000032843
AA Change: L146P

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

SMART Domains

Protein: ENSMUSP00000032843
Gene: ENSMUSG00000030614
AA Change: L146P

Domain	Start	End	E-Value	Type
Pfam:DUF1370	51	228	2.9e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123622

Meta Mutation Damage Score

0.9303

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	G	2: 130,798,181	S128P	probably damaging	Het
Abca8b	T	C	11: 109,957,118	I784V	probably benign	Het
Agxt	A	G	1: 93,137,307	H146R	probably benign	Het
AI314180	T	C	4: 58,877,048	D129G	probably damaging	Het
Art5	A	G	7: 102,097,970	F201L	probably damaging	Het
Bcl2a1b	T	A	9: 89,199,379	M7K	probably benign	Het
Card10	G	A	15: 78,776,717	A1030V	probably benign	Het
Ccdc66	G	A	14: 27,498,793	T58M	probably damaging	Het
Cd72	C	T	4: 43,452,610	G74R	probably damaging	Het
Cdc27	T	C	11: 104,507,287	K749R	probably damaging	Het
Commd3	A	T	2: 18,674,177	T102S	possibly damaging	Het
Cyp2f2	A	G	7: 27,129,879	T270A	possibly damaging	Het
Dclre1b	A	G	3: 103,809,136		probably benign	Het
Dennd1b	T	A	1: 139,133,721	D380E	probably damaging	Het
Dhx58	T	C	11: 100,695,173	E674G	probably benign	Het
Exoc5	T	C	14: 49,048,847	T108A	possibly damaging	Het
Fat4	T	C	3: 38,888,289	S444P	probably benign	Het
Gm3327	A	T	14: 44,124,835	I64F	unknown	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gpr15	T	A	16: 58,718,527	R66S	probably damaging	Het
Hmga1b	T	C	11: 120,763,192	S102P	probably benign	Het
Kat6b	G	A	14: 21,619,015		probably benign	Het
Kdm1b	A	G	13: 47,062,991	Y279C	probably damaging	Het
Krtap9-3	C	A	11: 99,597,990	C22F	probably benign	Het
Map3k14	T	A	11: 103,224,359	D817V	probably damaging	Het
Mybpc1	T	C	10: 88,546,064	D588G	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr720	A	G	14: 14,175,683	V133A	probably benign	Het
Olfr998	A	G	2: 85,590,632	I31V	probably benign	Het
Pcdhb20	A	G	18: 37,504,805	D128G	probably damaging	Het
Ppil6	A	G	10: 41,490,620	E47G	probably null	Het
Rad17	A	T	13: 100,617,646	*689K	probably null	Het
Scin	A	T	12: 40,077,542	Y416*	probably null	Het
Serf1	A	G	13: 100,109,067	T18A	probably benign	Het
Sik2	T	C	9: 50,995,591		probably benign	Het
Slc39a8	C	A	3: 135,858,157	N254K	probably benign	Het
Spint3	A	G	2: 164,569,901	F63L	probably damaging	Het
Suox	A	T	10: 128,671,158	S334T	probably damaging	Het
Tas2r119	A	G	15: 32,178,082	M265V	probably benign	Het
Tmem8	A	T	17: 26,118,928	N429Y	probably damaging	Het
Trpc3	G	T	3: 36,662,898	D330E	probably benign	Het
Ugt2a2	T	C	5: 87,464,181	E290G	possibly damaging	Het
Ugt2b37	T	A	5: 87,242,953	T352S	probably damaging	Het
Vmn1r40	T	C	6: 89,714,948	V249A	probably damaging	Het
Zc3h18	A	G	8: 122,386,869	D200G	probably damaging	Het
Zfp652	T	C	11: 95,752,936	V140A	probably damaging	Het

Other mutations in Tmem126b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02111:Tmem126b	APN	7	90469061	missense	probably damaging	0.96
R1661:Tmem126b	UTSW	7	90475971	missense	probably damaging	1.00
R1665:Tmem126b	UTSW	7	90475971	missense	probably damaging	1.00
R1911:Tmem126b	UTSW	7	90469159	missense	possibly damaging	0.89
R2894:Tmem126b	UTSW	7	90470913	missense	probably damaging	0.99
R4519:Tmem126b	UTSW	7	90469108	missense	probably damaging	1.00
R5425:Tmem126b	UTSW	7	90470947	missense	probably benign	0.06
R5750:Tmem126b	UTSW	7	90469657	missense	probably damaging	0.99
R7493:Tmem126b	UTSW	7	90472646	missense	probably benign	0.03
R8038:Tmem126b	UTSW	7	90469622	missense	probably benign	0.41
R8250:Tmem126b	UTSW	7	90469109	missense	probably damaging	0.99
R9580:Tmem126b	UTSW	7	90469023	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGAGTTTATCAGTACCACCCC -3'
(R):5'- AAGTCCCAGGGTTTGAATTCC -3'

Sequencing Primer
(F):5'- GTGAGGACCAAAGTTTGATTCCC -3'
(R):5'- CCCAGGGTTTGAATTCCTAATATTC -3'

Posted On

2016-06-06