Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02220:Tmem121b'

285116

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 #

IGL02220

Quality Score

Status

Chromosome

Chromosomal Location

120465900-120470768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120469298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 473 (D473G)

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: D473G

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

SMART Domains

Protein: ENSMUSP00000135924
Gene: ENSMUSG00000094626
AA Change: D473G

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,310,395 (GRCm39)	D460G	probably damaging	Het
Ankrd9	T	C	12: 110,943,933 (GRCm39)	M1V	probably null	Het
Anks1	T	C	17: 28,273,681 (GRCm39)	I977T	probably damaging	Het
Bcar1	T	C	8: 112,437,839 (GRCm39)	D767G	possibly damaging	Het
Bcl6	A	T	16: 23,793,641 (GRCm39)	I102N	probably damaging	Het
Cacna2d2	G	A	9: 107,392,078 (GRCm39)	G473D	probably damaging	Het
Cdh23	G	T	10: 60,140,903 (GRCm39)	H3148Q	probably damaging	Het
Col6a4	A	G	9: 105,940,141 (GRCm39)	V1263A	possibly damaging	Het
Crtc2	T	C	3: 90,166,455 (GRCm39)		probably benign	Het
D130043K22Rik	G	A	13: 25,067,738 (GRCm39)	G825S	possibly damaging	Het
Dera	T	A	6: 137,757,815 (GRCm39)		probably null	Het
Dnah17	G	T	11: 117,963,793 (GRCm39)	Y2506*	probably null	Het
Enam	T	A	5: 88,652,418 (GRCm39)	L1309*	probably null	Het
Fbxo15	G	A	18: 84,982,317 (GRCm39)		probably null	Het
Fgfbp1	T	C	5: 44,136,828 (GRCm39)	K155E	probably damaging	Het
Foxj2	C	T	6: 122,815,540 (GRCm39)		probably benign	Het
Fuca1	A	G	4: 135,666,530 (GRCm39)		probably benign	Het
Gad1-ps	T	A	10: 99,281,184 (GRCm39)		noncoding transcript	Het
H2-Eb2	C	T	17: 34,544,661 (GRCm39)		probably benign	Het
Insr	A	T	8: 3,209,578 (GRCm39)	F1168L	probably damaging	Het
Isx	T	A	8: 75,619,333 (GRCm39)	V175E	possibly damaging	Het
Kansl3	T	C	1: 36,407,070 (GRCm39)		probably benign	Het
Lin9	T	C	1: 180,494,932 (GRCm39)	I218T	probably damaging	Het
Llgl2	C	A	11: 115,736,205 (GRCm39)	A126D	possibly damaging	Het
Ltbp2	T	C	12: 84,876,083 (GRCm39)	E488G	possibly damaging	Het
Maml3	A	G	3: 51,597,639 (GRCm39)	V369A	possibly damaging	Het
Mthfsl	A	G	9: 88,597,708 (GRCm39)	I14T	probably damaging	Het
Myo3b	A	G	2: 70,119,923 (GRCm39)		probably benign	Het
Nfkbil1	T	C	17: 35,439,722 (GRCm39)	R264G	possibly damaging	Het
Or4c3d	A	G	2: 89,882,038 (GRCm39)	L210P	probably damaging	Het
Pde5a	G	T	3: 122,542,031 (GRCm39)	A174S	probably benign	Het
Plch1	A	T	3: 63,606,382 (GRCm39)	I1173N	probably damaging	Het
Ppfia1	C	A	7: 144,035,512 (GRCm39)	R1171L	probably damaging	Het
Prom1	T	C	5: 44,172,131 (GRCm39)	D595G	probably damaging	Het
Ptprz1	T	C	6: 23,042,742 (GRCm39)		probably benign	Het
Samsn1	A	G	16: 75,680,763 (GRCm39)		probably null	Het
Sbno2	T	A	10: 79,908,202 (GRCm39)	T66S	probably benign	Het
Serpina1c	T	A	12: 103,862,338 (GRCm39)	I326F	probably damaging	Het
Slc12a1	T	C	2: 125,030,190 (GRCm39)		probably null	Het
Slc18a2	A	G	19: 59,264,988 (GRCm39)	E324G	probably benign	Het
Slc40a1	A	T	1: 45,950,495 (GRCm39)	M319K	probably damaging	Het
Slc44a5	T	C	3: 153,956,608 (GRCm39)	Y287H	possibly damaging	Het
Stx4a	A	G	7: 127,441,672 (GRCm39)	E63G	possibly damaging	Het
Sv2a	T	C	3: 96,098,032 (GRCm39)	F545S	probably benign	Het
Svop	T	C	5: 114,203,589 (GRCm39)	D65G	probably benign	Het
Tex30	A	T	1: 44,126,182 (GRCm39)	S182R	probably benign	Het
Tnfrsf19	C	A	14: 61,210,941 (GRCm39)		probably benign	Het
Tnrc6a	T	C	7: 122,769,679 (GRCm39)	S490P	probably benign	Het
Ubr4	A	G	4: 139,115,746 (GRCm39)	T82A	probably benign	Het
Vps16	A	G	2: 130,283,573 (GRCm39)	D589G	possibly damaging	Het
Zscan29	A	C	2: 120,997,170 (GRCm39)	S184A	probably damaging	Het

Other mutations in Tmem121b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01355:Tmem121b	APN	6	120,469,427 (GRCm39)	missense	probably damaging	1.00
R2256:Tmem121b	UTSW	6	120,469,032 (GRCm39)	missense	probably damaging	1.00
R2256:Tmem121b	UTSW	6	120,469,030 (GRCm39)	nonsense	probably null
R2257:Tmem121b	UTSW	6	120,469,032 (GRCm39)	missense	probably damaging	1.00
R2257:Tmem121b	UTSW	6	120,469,030 (GRCm39)	nonsense	probably null
R2999:Tmem121b	UTSW	6	120,469,943 (GRCm39)	missense	possibly damaging	0.53
R3833:Tmem121b	UTSW	6	120,469,841 (GRCm39)	missense	probably damaging	1.00
R4583:Tmem121b	UTSW	6	120,469,055 (GRCm39)	missense	probably damaging	0.99
R4752:Tmem121b	UTSW	6	120,469,995 (GRCm39)	missense	possibly damaging	0.53
R7699:Tmem121b	UTSW	6	120,470,388 (GRCm39)	missense	unknown
R7700:Tmem121b	UTSW	6	120,470,388 (GRCm39)	missense	unknown
R8061:Tmem121b	UTSW	6	120,469,064 (GRCm39)	missense	probably damaging	0.99
R8074:Tmem121b	UTSW	6	120,469,869 (GRCm39)	missense	possibly damaging	0.53
R8266:Tmem121b	UTSW	6	120,469,193 (GRCm39)	missense	probably damaging	1.00
R8289:Tmem121b	UTSW	6	120,469,722 (GRCm39)	missense	possibly damaging	0.91
R8527:Tmem121b	UTSW	6	120,469,055 (GRCm39)	missense	probably damaging	0.99
R8907:Tmem121b	UTSW	6	120,469,707 (GRCm39)	missense	probably damaging	0.99
R9180:Tmem121b	UTSW	6	120,469,784 (GRCm39)	missense	probably damaging	0.98
R9329:Tmem121b	UTSW	6	120,469,234 (GRCm39)	missense	probably damaging	0.98
Z1177:Tmem121b	UTSW	6	120,469,622 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16