Mutagenetix > Incidental Mutation

Incidental Mutation 'R9580:Tmem126b'

722501

Institutional Source

Beutler Lab

Gene Symbol

Tmem126b

Ensembl Gene

ENSMUSG00000030614

Gene Name

transmembrane protein 126B

Synonyms

1110001A23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R9580 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90118041-90125203 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 90118231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 216 (Y216*)

Ref Sequence

ENSEMBL: ENSMUSP00000032843 (fasta)

Gene Model

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

AlphaFold

Q9D1R1

Predicted Effect

probably null
Transcript: ENSMUST00000032843
AA Change: Y216*

SMART Domains

Protein: ENSMUSP00000032843
Gene: ENSMUSG00000030614
AA Change: Y216*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2b	T	C	11: 62,156,145 (GRCm39)	M198T	probably damaging	Het
Agbl2	A	G	2: 90,636,248 (GRCm39)	T595A	probably benign	Het
Cep89	A	T	7: 35,102,538 (GRCm39)	I84F	possibly damaging	Het
Eda	G	T	X: 99,019,775 (GRCm39)	R130L	unknown	Het
Erp44	T	A	4: 48,218,187 (GRCm39)	R161*	probably null	Het
Fcsk	A	G	8: 111,616,813 (GRCm39)	W446R	probably damaging	Het
Gm12185	T	G	11: 48,799,192 (GRCm39)	S434R	possibly damaging	Het
Hmcn2	G	T	2: 31,294,875 (GRCm39)	A2555S	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv1-61	A	G	12: 115,322,993 (GRCm39)	S40P	possibly damaging	Het
Kif26b	C	T	1: 178,506,643 (GRCm39)	Q240*	probably null	Het
Mapkap1	C	T	2: 34,509,878 (GRCm39)	T456M	probably damaging	Het
Ncapg2	A	G	12: 116,424,228 (GRCm39)	N1137S	probably damaging	Het
Nectin4	C	G	1: 171,211,324 (GRCm39)	R283G	probably damaging	Het
Nos2	A	G	11: 78,828,457 (GRCm39)	I259V	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or4c119	T	C	2: 88,987,465 (GRCm39)	N18S	probably benign	Het
Pgm2	A	T	5: 64,265,092 (GRCm39)	N371I	possibly damaging	Het
Ppargc1a	A	T	5: 51,620,139 (GRCm39)	N733K	unknown	Het
Ptpn5	A	G	7: 46,732,622 (GRCm39)	Y345H	probably damaging	Het
Ptprd	C	G	4: 75,872,315 (GRCm39)	A1134P	possibly damaging	Het
Rbm47	A	C	5: 66,183,877 (GRCm39)	M242R	possibly damaging	Het
Slc12a5	T	G	2: 164,816,896 (GRCm39)	F140V	probably damaging	Het
Slc22a2	G	T	17: 12,803,177 (GRCm39)	V4L	probably benign	Het
Stk26	C	T	X: 49,930,618 (GRCm39)		probably benign	Het
Tas2r105	A	T	6: 131,663,699 (GRCm39)	I243K	probably damaging	Het
Usp25	C	T	16: 76,880,682 (GRCm39)	T681I	probably benign	Het
Vmn1r206	C	T	13: 22,804,890 (GRCm39)	A106T	probably damaging	Het
Vmn1r39	A	T	6: 66,781,915 (GRCm39)	N134K	probably damaging	Het
Vmn1r9	T	C	6: 57,048,812 (GRCm39)	S296P	probably benign	Het
Zfp97	T	A	17: 17,365,243 (GRCm39)	F247L	probably damaging	Het

Other mutations in Tmem126b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02111:Tmem126b	APN	7	90,118,269 (GRCm39)	missense	probably damaging	0.96
R1661:Tmem126b	UTSW	7	90,125,179 (GRCm39)	missense	probably damaging	1.00
R1665:Tmem126b	UTSW	7	90,125,179 (GRCm39)	missense	probably damaging	1.00
R1911:Tmem126b	UTSW	7	90,118,367 (GRCm39)	missense	possibly damaging	0.89
R2894:Tmem126b	UTSW	7	90,120,121 (GRCm39)	missense	probably damaging	0.99
R4519:Tmem126b	UTSW	7	90,118,316 (GRCm39)	missense	probably damaging	1.00
R5098:Tmem126b	UTSW	7	90,118,850 (GRCm39)	missense	probably damaging	1.00
R5425:Tmem126b	UTSW	7	90,120,155 (GRCm39)	missense	probably benign	0.06
R5750:Tmem126b	UTSW	7	90,118,865 (GRCm39)	missense	probably damaging	0.99
R7493:Tmem126b	UTSW	7	90,121,854 (GRCm39)	missense	probably benign	0.03
R8038:Tmem126b	UTSW	7	90,118,830 (GRCm39)	missense	probably benign	0.41
R8250:Tmem126b	UTSW	7	90,118,317 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCGGATCTGAGGCTTCAAACC -3'
(R):5'- CCAGAGACATTGTTGGTTCTTTTC -3'

Sequencing Primer
(F):5'- GGATCTGAGGCTTCAAACCCATTC -3'
(R):5'- CCATTTTCAGGTATCAGACTGTTC -3'

Posted On

2022-08-09