Mutagenetix > Incidental Mutations

Incidental Mutation 'R0180:Tmem145'

23814

Institutional Source

Beutler Lab

Gene Symbol

Tmem145

Ensembl Gene

ENSMUSG00000043843

Gene Name

transmembrane protein 145

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R0180 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25306106-25316195 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25314699 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 413 (I413V)

Ref Sequence

ENSEMBL: ENSMUSP00000104046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108409] [ENSMUST00000119703] [ENSMUST00000128119]

Predicted Effect

probably benign
Transcript: ENSMUST00000108409
AA Change: I413V

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000104046
Gene: ENSMUSG00000043843
AA Change: I413V

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:GpcrRhopsn4	157	411	7.5e-81	PFAM
low complexity region	486	503	N/A	INTRINSIC
low complexity region	505	516	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119703
AA Change: I399V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000112676
Gene: ENSMUSG00000043843
AA Change: I399V

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:GpcrRhopsn4	143	397	4.3e-81	PFAM
low complexity region	478	493	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128119

SMART Domains

Protein: ENSMUSP00000122192
Gene: ENSMUSG00000045039

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CUB	33	140	1.24e-15	SMART
EGF	141	170	4.26e0	SMART
EGF	173	203	2.43e1	SMART
Pfam:Kelch_4	227	277	1.3e-11	PFAM
Pfam:Kelch_3	240	287	1.6e-7	PFAM
low complexity region	320	341	N/A	INTRINSIC
low complexity region	517	531	N/A	INTRINSIC
low complexity region	728	738	N/A	INTRINSIC
PSI	847	899	1.37e0	SMART
low complexity region	932	938	N/A	INTRINSIC
PSI	949	991	2.11e-2	SMART
PSI	1005	1073	7.82e-1	SMART
EGF_CA	1074	1115	2.62e-9	SMART
EGF	1117	1160	5.4e-2	SMART
EGF_like	1163	1208	4e-1	SMART
EGF_Lam	1211	1259	1.03e-7	SMART
Blast:CUB	1263	1401	1e-30	BLAST
EGF_like	1406	1445	3.29e1	SMART
Pfam:Kelch_4	1509	1564	6.5e-12	PFAM
Pfam:Kelch_3	1520	1574	1.2e-10	PFAM
PSI	1868	1923	2.75e-1	SMART
PSI	2004	2062	1.6e0	SMART
PSI	2064	2121	1.68e-5	SMART
EGF	2125	2164	1.08e-1	SMART
EGF	2166	2194	4.26e0	SMART
EGF	2204	2244	2.2e1	SMART
EGF_like	2248	2321	6.37e-1	SMART
low complexity region	2493	2504	N/A	INTRINSIC
low complexity region	2530	2541	N/A	INTRINSIC
transmembrane domain	2592	2614	N/A	INTRINSIC
low complexity region	2649	2668	N/A	INTRINSIC
low complexity region	2674	2702	N/A	INTRINSIC
low complexity region	2759	2774	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205639

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 89.5%

Validation Efficiency

77% (53/69)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit progressive hearing impairment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	A	19: 21,652,639	N24Y	probably damaging	Het
2810408A11Rik	A	T	11: 69,898,876	M311K	probably benign	Het
Ackr2	T	C	9: 121,908,916	I119T	probably benign	Het
Adamtsl3	A	G	7: 82,575,990	M336V	probably benign	Het
Adhfe1	T	A	1: 9,563,857	F374I	probably benign	Het
Apob	C	T	12: 8,008,285	Q2256*	probably null	Het
Arg1	T	C	10: 24,916,830	I169V	probably benign	Het
Atxn1	A	G	13: 45,557,548	V636A	probably damaging	Het
B3gnt5	T	A	16: 19,769,100	I23K	possibly damaging	Het
Casc1	A	G	6: 145,183,218		probably benign	Het
Catsperg1	A	T	7: 29,190,431		probably null	Het
Celf3	T	A	3: 94,485,340	F115L	probably damaging	Het
Cep192	T	A	18: 67,835,488	H984Q	probably damaging	Het
Col18a1	A	G	10: 77,096,517	V493A	probably benign	Het
Col5a2	C	T	1: 45,411,460	G376S	probably damaging	Het
Colec12	A	G	18: 9,848,890	H356R	probably damaging	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Cracr2a	T	C	6: 127,604,074		probably null	Het
Ctsr	T	C	13: 61,162,745	H62R	probably damaging	Het
Cyp4f40	G	T	17: 32,659,667	W61L	probably benign	Het
Dnah9	T	G	11: 66,147,290	H140P	probably damaging	Het
Dnm1	T	G	2: 32,327,993	I464L	probably damaging	Het
Dnmt1	G	A	9: 20,908,620	T1409I	probably damaging	Het
Dock1	G	A	7: 135,098,837	D1109N	probably damaging	Het
Efhc1	A	G	1: 20,967,489	M297V	probably benign	Het
Emcn	A	T	3: 137,418,994		probably null	Het
Ephb1	A	T	9: 101,927,504	M905K	probably damaging	Het
Fbxw10	A	G	11: 62,853,096	Y276C	probably benign	Het
Fermt3	C	A	19: 7,002,343	S474I	possibly damaging	Het
Frg1	T	A	8: 41,399,068		probably null	Het
Gbf1	T	C	19: 46,285,722	S1732P	probably benign	Het
Gbp8	A	C	5: 105,031,276	L119R	probably damaging	Het
Gldc	C	T	19: 30,100,817	A927T	possibly damaging	Het
Gm8836	T	A	6: 70,260,405		probably benign	Het
Grhl3	C	T	4: 135,554,530	V344I	probably benign	Het
Hhipl1	T	A	12: 108,328,070	L745H	probably damaging	Het
Ido1	T	C	8: 24,593,140	I90V	possibly damaging	Het
Itpr2	T	A	6: 146,501,909		probably benign	Het
Kif1b	T	G	4: 149,213,659	S1029R	probably damaging	Het
Kmt2a	G	A	9: 44,826,851		probably benign	Het
Limk1	T	C	5: 134,669,261	N215D	probably damaging	Het
Lims2	A	G	18: 31,956,315	K144E	probably benign	Het
Mfsd6l	A	T	11: 68,556,545	Q74L	possibly damaging	Het
Mroh1	T	A	15: 76,428,250	S546T	probably damaging	Het
Ncbp3	T	A	11: 73,064,978		probably null	Het
Nlrx1	G	A	9: 44,255,459	H776Y	possibly damaging	Het
Nptxr	T	C	15: 79,794,403	M228V	probably benign	Het
Nsf	T	A	11: 103,930,780	L13F	probably damaging	Het
Nyap1	T	C	5: 137,738,021	E68G	probably damaging	Het
Olfr550	A	G	7: 102,579,032	Y179C	probably damaging	Het
Olfr9	A	T	10: 128,990,834	R307S	possibly damaging	Het
Pcdhb9	A	G	18: 37,402,254	N434D	probably damaging	Het
Pgm5	T	C	19: 24,815,763	D313G	probably damaging	Het
Pkdcc	G	A	17: 83,221,870		probably null	Het
Pkp1	T	C	1: 135,886,800	K261R	probably benign	Het
Pnpla6	A	G	8: 3,524,250		probably null	Het
Polr3b	A	G	10: 84,622,515	T17A	probably benign	Het
Ppt2	A	T	17: 34,626,503	M98K	probably damaging	Het
Rasal3	T	C	17: 32,399,405	D142G	probably benign	Het
Rbm17	G	A	2: 11,587,779	S295L	probably benign	Het
Rhbdf1	A	T	11: 32,210,042	V153D	possibly damaging	Het
Slc6a3	C	T	13: 73,562,336	T355M	probably damaging	Het
Snrnp35	A	T	5: 124,490,820		probably benign	Het
Sorcs2	A	T	5: 36,153,845	I37N	probably damaging	Het
Tecta	G	T	9: 42,366,813	P1133Q	probably benign	Het
Trappc11	G	T	8: 47,527,974	T144K	possibly damaging	Het
Triml2	A	T	8: 43,190,309	I223L	probably benign	Het
Ube2g2	T	A	10: 77,630,739	N19K	possibly damaging	Het
Ubqln3	A	G	7: 104,141,840	Y348H	probably damaging	Het
Wfs1	A	G	5: 36,967,028	F840L	probably damaging	Het
Zc3h11a	T	C	1: 133,621,611	I771V	probably benign	Het
Zdhhc23	G	A	16: 43,973,703	P203S	probably benign	Het
Zfp106	T	G	2: 120,533,875	T684P	probably damaging	Het
Zfp217	A	T	2: 170,120,137	L90Q	probably damaging	Het

Other mutations in Tmem145

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Tmem145	APN	7	25314730	missense	possibly damaging	0.88
IGL00958:Tmem145	APN	7	25307357	critical splice donor site	probably null
IGL01347:Tmem145	APN	7	25314835	missense	probably damaging	0.97
IGL01936:Tmem145	APN	7	25311391	missense	probably damaging	0.97
IGL02526:Tmem145	APN	7	25308232	missense	probably benign	0.20
IGL02686:Tmem145	APN	7	25314725	missense	probably damaging	1.00
IGL03182:Tmem145	APN	7	25314879	missense	probably damaging	1.00
R0087:Tmem145	UTSW	7	25307843	missense	probably damaging	1.00
R0329:Tmem145	UTSW	7	25308674	splice site	probably benign
R0504:Tmem145	UTSW	7	25311362	missense	probably damaging	1.00
R1488:Tmem145	UTSW	7	25307435	splice site	probably null
R1681:Tmem145	UTSW	7	25314734	missense	possibly damaging	0.95
R2352:Tmem145	UTSW	7	25306173	missense	probably benign
R3834:Tmem145	UTSW	7	25311361	missense	probably damaging	1.00
R4175:Tmem145	UTSW	7	25308793	missense	probably benign	0.04
R4414:Tmem145	UTSW	7	25307129	missense	probably damaging	1.00
R4485:Tmem145	UTSW	7	25307162	missense	possibly damaging	0.76
R4631:Tmem145	UTSW	7	25307825	missense	probably benign	0.00
R4983:Tmem145	UTSW	7	25308602	missense	probably benign	0.03
R4999:Tmem145	UTSW	7	25309034	missense	probably benign	0.04
R5772:Tmem145	UTSW	7	25315614	missense	probably benign	0.21
R5821:Tmem145	UTSW	7	25315521	missense	probably benign	0.30
R5909:Tmem145	UTSW	7	25308193	missense	possibly damaging	0.89
R6021:Tmem145	UTSW	7	25308845	splice site	probably null
R6430:Tmem145	UTSW	7	25309038	missense	possibly damaging	0.84
R6768:Tmem145	UTSW	7	25308636	missense	probably damaging	1.00
R6778:Tmem145	UTSW	7	25311376	missense	probably benign	0.04
R7428:Tmem145	UTSW	7	25307165	critical splice donor site	probably null
R7536:Tmem145	UTSW	7	25307869	missense	probably damaging	1.00
R7748:Tmem145	UTSW	7	25307328	nonsense	probably null
R7826:Tmem145	UTSW	7	25307514	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTCAGAATGCCGGAAGATACCC -3'
(R):5'- CCAAATATGGACGCACTTGTCAATCAG -3'

Sequencing Primer
(F):5'- TGTCCAAGGCAGTCTGAATG -3'
(R):5'- TCAGACGCCAATGAGCAG -3'

Posted On

2013-04-16