Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01355:Tmem121b'

75498

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem121b

Ensembl Gene

ENSMUSG00000094626

Gene Name

transmembrane protein 121B

Synonyms

Cecr6

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01355

Quality Score

Status

Chromosome

Chromosomal Location

120488939-120493807 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120492466 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 430 (L430P)

Ref Sequence

ENSEMBL: ENSMUSP00000135924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002976] [ENSMUST00000178687]

AlphaFold

Q99MX7

Predicted Effect

probably benign
Transcript: ENSMUST00000002976

SMART Domains

Protein: ENSMUSP00000002976
Gene: ENSMUSG00000002897

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:IL17R_fnIII_D1	48	198	1.3e-70	PFAM
Pfam:IL17R_fnIII_D2	199	303	9.6e-53	PFAM
transmembrane domain	321	343	N/A	INTRINSIC
Pfam:SEFIR	380	539	1.5e-51	PFAM
low complexity region	747	765	N/A	INTRINSIC
low complexity region	801	830	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000178687
AA Change: L430P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135924
Gene: ENSMUSG00000094626
AA Change: L430P

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	33	73	N/A	INTRINSIC
low complexity region	88	193	N/A	INTRINSIC
low complexity region	196	215	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC
low complexity region	253	271	N/A	INTRINSIC
low complexity region	273	305	N/A	INTRINSIC
Pfam:CECR6_TMEM121	308	512	3.6e-61	PFAM
low complexity region	521	550	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajap1	C	T	4: 153,386,481	V290I	probably damaging	Het
Ankrd12	A	G	17: 65,970,340		probably benign	Het
Anxa4	A	T	6: 86,752,205	I140N	probably damaging	Het
Asap2	A	G	12: 21,218,086		probably benign	Het
Cd36	C	T	5: 17,813,074	V214I	possibly damaging	Het
Col24a1	T	C	3: 145,314,876	L336S	probably benign	Het
Dcc	C	T	18: 71,809,114	V311I	probably benign	Het
Gpr146	A	T	5: 139,378,904		probably benign	Het
Irf1	T	C	11: 53,774,361	V188A	probably benign	Het
Limk1	G	A	5: 134,657,900		probably benign	Het
Mcidas	T	C	13: 112,999,069	F342S	probably damaging	Het
Mctp1	A	G	13: 76,384,955	T141A	probably benign	Het
Mnd1	C	A	3: 84,116,477	A101S	probably benign	Het
Nsun7	T	C	5: 66,294,868	S466P	probably damaging	Het
Olfr1279	T	A	2: 111,307,093	I296K	probably benign	Het
Olfr165	C	T	16: 19,407,583	M145I	probably benign	Het
Olfr617	A	G	7: 103,584,373	E117G	probably damaging	Het
Pik3c2g	G	T	6: 139,852,857	G371V	probably damaging	Het
Sdad1	A	G	5: 92,302,679	V199A	probably damaging	Het
Spg11	C	T	2: 122,113,156	V172I	probably benign	Het
Tas2r108	A	G	6: 40,493,751	T54A	possibly damaging	Het
Traf3ip1	A	G	1: 91,518,297	D384G	probably damaging	Het
Trank1	A	G	9: 111,365,520	T871A	possibly damaging	Het
Vegfa	T	C	17: 46,025,421	M258V	possibly damaging	Het
Zbtb49	A	G	5: 38,210,616		probably null	Het

Other mutations in Tmem121b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02220:Tmem121b	APN	6	120492337	missense	probably damaging	1.00
R2256:Tmem121b	UTSW	6	120492069	nonsense	probably null
R2256:Tmem121b	UTSW	6	120492071	missense	probably damaging	1.00
R2257:Tmem121b	UTSW	6	120492069	nonsense	probably null
R2257:Tmem121b	UTSW	6	120492071	missense	probably damaging	1.00
R2999:Tmem121b	UTSW	6	120492982	missense	possibly damaging	0.53
R3833:Tmem121b	UTSW	6	120492880	missense	probably damaging	1.00
R4583:Tmem121b	UTSW	6	120492094	missense	probably damaging	0.99
R4752:Tmem121b	UTSW	6	120493034	missense	possibly damaging	0.53
R7699:Tmem121b	UTSW	6	120493427	missense	unknown
R7700:Tmem121b	UTSW	6	120493427	missense	unknown
R8061:Tmem121b	UTSW	6	120492103	missense	probably damaging	0.99
R8074:Tmem121b	UTSW	6	120492908	missense	possibly damaging	0.53
R8266:Tmem121b	UTSW	6	120492232	missense	probably damaging	1.00
R8289:Tmem121b	UTSW	6	120492761	missense	possibly damaging	0.91
R8527:Tmem121b	UTSW	6	120492094	missense	probably damaging	0.99
R8907:Tmem121b	UTSW	6	120492746	missense	probably damaging	0.99
R9180:Tmem121b	UTSW	6	120492823	missense	probably damaging	0.98
R9329:Tmem121b	UTSW	6	120492273	missense	probably damaging	0.98
Z1177:Tmem121b	UTSW	6	120492661	missense	probably damaging	0.99

Posted On

2013-10-07