Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00911:Tmem121'

28713

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem121

Ensembl Gene

ENSMUSG00000049036

Gene Name

transmembrane protein 121

Synonyms

2410008J05Rik, Hole

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

IGL00911

Quality Score

Status

Chromosome

Chromosomal Location

113149550-113153143 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113151851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 23 (A23V)

Ref Sequence

ENSEMBL: ENSMUSP00000055994 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058491]

AlphaFold

Q80XA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000058491
AA Change: A23V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055994
Gene: ENSMUSG00000049036
AA Change: A23V

Domain	Start	End	E-Value	Type
transmembrane domain	13	30	N/A	INTRINSIC
transmembrane domain	40	62	N/A	INTRINSIC
Pfam:CECR6_TMEM121	73	267	3.1e-62	PFAM
low complexity region	275	309	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afm	T	C	5: 90,673,450 (GRCm39)	V234A	probably benign	Het
Alas1	T	A	9: 106,113,671 (GRCm39)	I525F	probably benign	Het
Ambra1	T	A	2: 91,598,027 (GRCm39)		probably benign	Het
Apbb2	G	A	5: 66,608,855 (GRCm39)	T264M	probably damaging	Het
Arb2a	T	A	13: 78,100,094 (GRCm39)		probably benign	Het
Arhgap40	A	G	2: 158,376,636 (GRCm39)		probably benign	Het
Chd9	C	T	8: 91,778,320 (GRCm39)	P2793L	probably damaging	Het
Clstn1	T	G	4: 149,727,648 (GRCm39)		probably benign	Het
Cyp2f2	T	C	7: 26,821,354 (GRCm39)	V13A	probably damaging	Het
Dnah1	C	T	14: 31,026,391 (GRCm39)		probably null	Het
Eogt	A	T	6: 97,096,961 (GRCm39)	V349E	probably damaging	Het
Epb41	T	C	4: 131,717,095 (GRCm39)	D353G	possibly damaging	Het
Fbxo38	T	A	18: 62,663,871 (GRCm39)	I207F	possibly damaging	Het
Frem2	T	C	3: 53,479,883 (GRCm39)	S1937G	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kcnh3	G	T	15: 99,130,882 (GRCm39)	G500*	probably null	Het
Khdc1b	A	T	1: 21,454,578 (GRCm39)	K94*	probably null	Het
Lpcat2	T	C	8: 93,617,338 (GRCm39)	Y367H	probably damaging	Het
Lrrd1	A	C	5: 3,915,689 (GRCm39)	N762T	probably benign	Het
Mbl2	T	A	19: 30,215,794 (GRCm39)	D100E	possibly damaging	Het
Mthfr	T	G	4: 148,125,759 (GRCm39)	S31A	probably benign	Het
Nrp1	T	A	8: 129,202,688 (GRCm39)	S558T	probably benign	Het
Nrxn3	T	C	12: 90,171,366 (GRCm39)	L1254P	probably damaging	Het
Or2ag12	A	T	7: 106,277,040 (GRCm39)	Y218N	probably damaging	Het
Pabpc1l	C	A	2: 163,884,343 (GRCm39)	T360K	probably damaging	Het
Pcgf1	G	A	6: 83,057,606 (GRCm39)	G92S	probably damaging	Het
Penk	T	C	4: 4,134,347 (GRCm39)	Y100C	probably damaging	Het
Pik3r1	T	C	13: 101,894,169 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,187,971 (GRCm39)	T3446S	probably benign	Het
Plcg2	G	A	8: 118,313,254 (GRCm39)	D473N	probably benign	Het
Poll	G	T	19: 45,542,040 (GRCm39)	T422K	probably damaging	Het
Skint3	T	A	4: 112,113,106 (GRCm39)		probably benign	Het
Stab2	C	A	10: 86,805,617 (GRCm39)	C243F	probably damaging	Het
Supt6	T	C	11: 78,122,007 (GRCm39)	E215G	possibly damaging	Het
Tas1r2	C	A	4: 139,387,602 (GRCm39)	P354T	probably benign	Het
Tenm2	G	A	11: 35,899,560 (GRCm39)	Q2533*	probably null	Het

Other mutations in Tmem121

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2879:Tmem121	UTSW	12	113,152,028 (GRCm39)	missense	probably damaging	1.00
R4876:Tmem121	UTSW	12	113,152,348 (GRCm39)	missense	probably benign	0.01
R5518:Tmem121	UTSW	12	113,152,547 (GRCm39)	missense	possibly damaging	0.46
R7223:Tmem121	UTSW	12	113,152,114 (GRCm39)	nonsense	probably null
R7467:Tmem121	UTSW	12	113,152,690 (GRCm39)	missense	probably benign	0.25
R7767:Tmem121	UTSW	12	113,151,992 (GRCm39)	missense	probably damaging	1.00
R7857:Tmem121	UTSW	12	113,152,696 (GRCm39)	missense	possibly damaging	0.76
R8051:Tmem121	UTSW	12	113,152,487 (GRCm39)	missense	probably benign	0.00

Posted On

2013-04-17