Mutagenetix > Incidental Mutation

Incidental Mutation 'R5772:Tmem145'

445447

Institutional Source

Beutler Lab

Gene Symbol

Tmem145

Ensembl Gene

ENSMUSG00000043843

Gene Name

transmembrane protein 145

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5772 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

25306106-25316195 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25315614 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 554 (H554R)

Ref Sequence

ENSEMBL: ENSMUSP00000104046 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000108409
AA Change: H554R

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104046
Gene: ENSMUSG00000043843
AA Change: H554R

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

SMART Domains

Protein: ENSMUSP00000112676
Gene: ENSMUSG00000043843

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	T	7: 34,253,988	W238R	probably damaging	Het
4932416K20Rik	G	A	8: 104,797,639		noncoding transcript	Het
Abcg8	A	T	17: 84,686,699	E48V	probably damaging	Het
Afap1l2	T	C	19: 56,922,974	T289A	probably benign	Het
Atf6	T	A	1: 170,747,189	D560V	probably damaging	Het
Bcl2l14	A	T	6: 134,427,399	K183N	probably damaging	Het
Carmil3	T	C	14: 55,493,239	L52P	probably damaging	Het
Cct3	T	A	3: 88,300,967	N61K	probably damaging	Het
Col18a1	A	G	10: 77,166,343	V10A	unknown	Het
Col26a1	G	A	5: 136,847,566	Q67*	probably null	Het
Cyp2d34	T	C	15: 82,617,140	D329G	probably null	Het
Dchs1	T	A	7: 105,773,040	I58F	probably damaging	Het
Ddx60	T	C	8: 61,948,897	L269P	probably damaging	Het
Dis3l2	G	A	1: 86,878,432	G325D	probably damaging	Het
Dync1h1	A	T	12: 110,646,273	K2861*	probably null	Het
Ednra	A	G	8: 77,675,067	I198T	possibly damaging	Het
Ep300	T	C	15: 81,639,914		probably benign	Het
Fam120a	G	A	13: 48,880,933	P1068S	probably benign	Het
Fsip2	A	T	2: 82,984,740	M3606L	probably benign	Het
Gm7713	T	C	15: 59,994,643		noncoding transcript	Het
Gm9833	A	G	3: 10,088,506	R112G	probably damaging	Het
Gprin3	A	T	6: 59,354,413	V303D	possibly damaging	Het
Hmcn1	A	T	1: 150,694,878	V2178D	possibly damaging	Het
Hoxa11	A	G	6: 52,245,400	V107A	possibly damaging	Het
Iqub	C	A	6: 24,454,251	M544I	possibly damaging	Het
Itgb4	A	T	11: 115,988,432		probably benign	Het
Itpkb	A	G	1: 180,334,253		probably benign	Het
Kalrn	A	T	16: 33,975,820	V1195E	probably damaging	Het
Kif12	C	A	4: 63,165,941	R608M	probably damaging	Het
Lcorl	A	T	5: 45,795,367		probably null	Het
Lrrc24	T	C	15: 76,722,710	E162G	probably damaging	Het
Med6	A	G	12: 81,579,644	S119P	probably damaging	Het
Mmab	A	C	5: 114,436,714	L166R	probably damaging	Het
Nom1	A	G	5: 29,446,875	K737R	possibly damaging	Het
Obscn	T	C	11: 59,056,144	S4352G	probably damaging	Het
Olfr1130	A	T	2: 87,608,173	T262S	probably benign	Het
Olfr1277	A	T	2: 111,269,712	Y218*	probably null	Het
Olfr212	A	C	6: 116,515,951	D58A	possibly damaging	Het
Olfr225	T	A	11: 59,613,886	D307E	probably benign	Het
Pdzrn3	G	A	6: 101,172,314	S351L	probably benign	Het
Pdzrn4	A	T	15: 92,757,681	E485V	probably damaging	Het
Prkdc	T	A	16: 15,779,388	I2804K	possibly damaging	Het
Psg28	A	G	7: 18,430,715	L24P	probably damaging	Het
Resp18	A	G	1: 75,274,000	V145A	possibly damaging	Het
Rgl3	T	C	9: 21,981,612	M259V	probably benign	Het
Rhot2	A	T	17: 25,839,807	S540T	probably benign	Het
Ring1	T	C	17: 34,022,308	Y278C	possibly damaging	Het
Rpn2	A	G	2: 157,295,345	Y216C	probably damaging	Het
Scgb2b18	G	A	7: 33,173,830	L5F	unknown	Het
Slamf7	T	C	1: 171,639,270		probably null	Het
Slc22a12	T	C	19: 6,540,449	N237S	possibly damaging	Het
Spen	A	T	4: 141,478,184	V1044D	unknown	Het
Sqor	A	T	2: 122,809,341	M175L	probably benign	Het
Stx16	G	A	2: 174,093,499	G156R	probably damaging	Het
Tarsl2	T	G	7: 65,684,125	F632V	probably damaging	Het
Tln1	A	G	4: 43,545,191	V1008A	probably benign	Het
Trank1	A	T	9: 111,366,676	D1256V	possibly damaging	Het
Trbv19	A	G	6: 41,178,860	Y55C	possibly damaging	Het
Ttc23l	C	T	15: 10,551,469	C57Y	probably benign	Het
Uap1	A	T	1: 170,161,380	C158S	probably benign	Het
Zfp353-ps	T	A	8: 42,082,610		noncoding transcript	Het
Zfp629	T	A	7: 127,611,135	I501F	probably damaging	Het
Zfp820	T	C	17: 21,818,721	Y542C	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
R0180:Tmem145	UTSW	7	25314699	missense	probably benign	0.05
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
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
R8253:Tmem145	UTSW	7	25307514	missense	probably damaging	1.00
R8441:Tmem145	UTSW	7	25308775	missense	possibly damaging	0.62
R9129:Tmem145	UTSW	7	25314840	missense	possibly damaging	0.59
R9277:Tmem145	UTSW	7	25309740	missense	probably benign	0.14
R9297:Tmem145	UTSW	7	25308832	missense	probably damaging	1.00
Z1177:Tmem145	UTSW	7	25309646	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACAAGTGCGTCCATATTTGG -3'
(R):5'- TCCAGATTCCGGAGCCATTC -3'

Sequencing Primer
(F):5'- TTCTGGGCAGCCTCTGAC -3'
(R):5'- GGACGCAGCGCATCCAAAG -3'

Posted On

2016-11-21