Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02111:Tmem126b'

280137

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem126b

Ensembl Gene

ENSMUSG00000030614

Gene Name

transmembrane protein 126B

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

IGL02111

Quality Score

Status

Chromosome

Chromosomal Location

90467438-90476001 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 90469061 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 204 (Q204K)

Ref Sequence

ENSEMBL: ENSMUSP00000032843 (fasta)

Gene Model

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

AlphaFold

Q9D1R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000032843
AA Change: Q204K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032843
Gene: ENSMUSG00000030614
AA Change: Q204K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123622

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	T	C	9: 22,424,179	I31T	probably benign	Het
Adgrg3	G	A	8: 95,034,999	R130Q	probably damaging	Het
Adipor2	A	T	6: 119,370,196	L42*	probably null	Het
Ankrd45	A	G	1: 161,163,351	K259E	probably damaging	Het
Apoc3	T	C	9: 46,234,474	K79R	possibly damaging	Het
Arhgap40	T	C	2: 158,539,844	Y416H	probably damaging	Het
Armc5	A	G	7: 128,244,083	T683A	probably benign	Het
Bora	T	C	14: 99,047,377	V21A	probably damaging	Het
Cacna1b	C	T	2: 24,606,991	S2189N	probably damaging	Het
Cct2	G	A	10: 117,053,112	T57I	probably damaging	Het
Cd200r1	A	T	16: 44,788,781	N34Y	probably damaging	Het
Cd300ld2	T	A	11: 115,012,393		probably benign	Het
Cntnap5a	G	A	1: 116,089,352	R225H	probably benign	Het
Cntnap5c	A	T	17: 58,102,108	D447V	probably damaging	Het
Cpne7	T	C	8: 123,125,653		probably benign	Het
Dap3	G	A	3: 88,929,418	T92I	probably benign	Het
Dnmbp	A	G	19: 43,867,555	L254P	probably damaging	Het
Egfem1	G	A	3: 29,650,896		probably null	Het
Fam120b	T	C	17: 15,402,585	L275P	possibly damaging	Het
Fam161a	A	T	11: 23,020,026	H68L	probably benign	Het
Fam193a	A	G	5: 34,410,657	E100G	possibly damaging	Het
Ftmt	A	T	18: 52,332,053	D147V	possibly damaging	Het
Gm10136	T	C	19: 29,003,722	K41E	probably benign	Het
Gm10797	C	T	10: 67,572,567		noncoding transcript	Het
Hsf1	A	G	15: 76,496,081		probably benign	Het
Ipo8	A	G	6: 148,799,780	V514A	probably damaging	Het
Itfg2	T	C	6: 128,410,381	H422R	probably benign	Het
Lrp4	G	T	2: 91,506,059	L1738F	probably damaging	Het
Mettl17	A	G	14: 51,891,386	E371G	probably damaging	Het
Mfsd6	A	T	1: 52,708,344	L454Q	probably damaging	Het
Myh10	A	T	11: 68,790,112	E956V	probably damaging	Het
Ncoa1	A	T	12: 4,274,944	M1K	probably null	Het
Olfr1163	T	A	2: 88,071,227	N52Y	probably benign	Het
Olfr677	A	G	7: 105,056,945	D233G	probably benign	Het
Olfr709-ps1	A	C	7: 106,926,616	V281G	probably damaging	Het
Otop1	T	A	5: 38,277,701	C89S	probably benign	Het
Pitrm1	G	T	13: 6,573,145	R775L	probably benign	Het
Prpf19	A	G	19: 10,905,094	T512A	probably benign	Het
Prpf4b	T	A	13: 34,883,961	S258T	probably benign	Het
Rhbdl2	T	C	4: 123,822,837	Y196H	probably damaging	Het
Rnf187	T	C	11: 58,937,180	D148G	probably damaging	Het
Sbds	A	G	5: 130,250,941	I74T	probably damaging	Het
Sec63	T	C	10: 42,810,888	V468A	probably damaging	Het
Slc35b3	A	T	13: 38,955,782	M23K	probably damaging	Het
Slc6a9	A	T	4: 117,864,013	Y208F	probably benign	Het
Slfn8	A	T	11: 83,004,498	L494Q	probably damaging	Het
Sorcs1	T	G	19: 50,230,245	M600L	probably benign	Het
Supt7l	T	C	5: 31,515,678		probably null	Het
Tecrl	T	A	5: 83,354,792	Q70L	probably damaging	Het
Tedc2	A	T	17: 24,218,166		probably benign	Het
Tespa1	A	G	10: 130,355,484	D99G	probably damaging	Het
Tmem181c-ps	A	T	17: 6,620,367		noncoding transcript	Het
Tmem184a	G	T	5: 139,813,101	T31K	possibly damaging	Het
Tmprss11e	T	A	5: 86,719,801	I137F	possibly damaging	Het
Tmprss13	C	T	9: 45,336,105	T255I	probably damaging	Het
Top1mt	G	A	15: 75,665,706		probably benign	Het
Treh	C	T	9: 44,682,961	T168I	probably benign	Het
Ttn	A	T	2: 76,767,328	I11420N	probably benign	Het
Zp2	T	C	7: 120,132,418	K705E	possibly damaging	Het
Zw10	T	C	9: 49,068,754	I395T	probably damaging	Het

Other mutations in Tmem126b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5098:Tmem126b	UTSW	7	90469642	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

Posted On

2015-04-16