Mutagenetix > Incidental Mutation

Incidental Mutation 'R5909:Tmem145'

460847

Institutional Source

Beutler Lab

Gene Symbol

Tmem145

Ensembl Gene

ENSMUSG00000043843

Gene Name

transmembrane protein 145

Synonyms

B930076A02Rik

MMRRC Submission

044106-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R5909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25005531-25015620 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 25007618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 208 (L208F)

Ref Sequence

ENSEMBL: ENSMUSP00000104046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080288] [ENSMUST00000108409] [ENSMUST00000119703]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000080288

SMART Domains

Protein: ENSMUSP00000104047
Gene: ENSMUSG00000058741

Domain	Start	End	E-Value	Type
Pfam:Pro-rich_19	1	366	3.3e-196	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108409
AA Change: L208F

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104046
Gene: ENSMUSG00000043843
AA Change: L208F

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: L194F

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112676
Gene: ENSMUSG00000043843
AA Change: L194F

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

noncoding transcript
Transcript: ENSMUST00000140016

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	T	C	9: 30,873,224 (GRCm39)	S810P	probably benign	Het
Adcy7	A	T	8: 89,052,124 (GRCm39)	I931F	probably damaging	Het
Alcam	G	T	16: 52,111,356 (GRCm39)	Q248K	probably benign	Het
Astn1	A	C	1: 158,429,507 (GRCm39)	R750S	probably damaging	Het
Atp1a2	A	T	1: 172,114,797 (GRCm39)	N329K	probably damaging	Het
Bcl6	A	G	16: 23,791,556 (GRCm39)	V266A	probably benign	Het
Bdp1	A	G	13: 100,228,794 (GRCm39)	V278A	probably benign	Het
Ccdc162	T	C	10: 41,437,111 (GRCm39)	E493G	probably damaging	Het
Cpvl	T	C	6: 53,909,413 (GRCm39)	Y241C	probably damaging	Het
Ddx55	T	C	5: 124,704,913 (GRCm39)	M390T	probably benign	Het
Ero1b	A	G	13: 12,594,139 (GRCm39)	E102G	probably benign	Het
Etnk1	A	G	6: 143,143,164 (GRCm39)	D273G	probably benign	Het
Exoc3	A	G	13: 74,347,643 (GRCm39)	V109A	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,091 (GRCm39)	I58N	probably damaging	Het
Fancd2	T	A	6: 113,538,672 (GRCm39)	V589E	probably benign	Het
Fbll1	G	A	11: 35,689,159 (GRCm39)	R35C	unknown	Het
Fnbp1	A	G	2: 30,938,211 (GRCm39)		probably null	Het
Glce	G	T	9: 61,967,426 (GRCm39)	A575D	probably damaging	Het
Ift20	T	A	11: 78,430,867 (GRCm39)	M70K	possibly damaging	Het
Impg2	T	C	16: 56,078,499 (GRCm39)	V487A	probably damaging	Het
Isx	A	G	8: 75,619,426 (GRCm39)	D206G	probably benign	Het
Jak3	A	G	8: 72,136,875 (GRCm39)	I684V	possibly damaging	Het
Kdm5d	G	A	Y: 941,306 (GRCm39)	S1169N	probably benign	Het
Krt35	A	T	11: 99,986,639 (GRCm39)	L125Q	probably damaging	Het
Lama4	G	A	10: 38,948,855 (GRCm39)	A873T	probably benign	Het
Lrch4	T	C	5: 137,632,127 (GRCm39)	S74P	possibly damaging	Het
Maneal	A	T	4: 124,750,966 (GRCm39)	Y263*	probably null	Het
Mcat	C	T	15: 83,432,116 (GRCm39)	A251T	probably benign	Het
Mup3	T	G	4: 62,004,244 (GRCm39)	T90P	probably benign	Het
Mybpc2	G	A	7: 44,156,515 (GRCm39)	A812V	probably damaging	Het
Naa15	T	C	3: 51,367,485 (GRCm39)	F503L	probably damaging	Het
Nudt8	T	C	19: 4,050,727 (GRCm39)	L25S	possibly damaging	Het
Oas1e	A	T	5: 120,926,972 (GRCm39)	V245D	probably damaging	Het
Ofcc1	A	G	13: 40,417,054 (GRCm39)	M109T	possibly damaging	Het
Or4c58	A	G	2: 89,674,735 (GRCm39)	V194A	possibly damaging	Het
Or4p18	A	T	2: 88,232,535 (GRCm39)	F248I	probably damaging	Het
Phkb	G	T	8: 86,748,076 (GRCm39)		probably null	Het
Pidd1	A	C	7: 141,021,183 (GRCm39)	L365R	probably damaging	Het
Pira12	G	A	7: 3,900,621 (GRCm39)	T43I	probably damaging	Het
Pkd1l2	G	A	8: 117,750,795 (GRCm39)	R1739C	probably benign	Het
Pkdrej	A	T	15: 85,702,497 (GRCm39)	D1146E	possibly damaging	Het
Pkhd1l1	G	T	15: 44,390,159 (GRCm39)	W1425L	probably damaging	Het
Plxna4	A	G	6: 32,494,181 (GRCm39)	L145P	probably damaging	Het
Plxnd1	G	T	6: 115,945,649 (GRCm39)	D941E	probably benign	Het
Prdm13	G	T	4: 21,683,894 (GRCm39)	Q126K	unknown	Het
Rbm25	T	A	12: 83,728,362 (GRCm39)	V837E	probably damaging	Het
Rcc2	T	A	4: 140,444,379 (GRCm39)	Y357N	probably damaging	Het
Siglec1	A	T	2: 130,919,884 (GRCm39)	N882K	probably damaging	Het
Sox13	A	G	1: 133,311,627 (GRCm39)	I535T	probably benign	Het
Srrm2	T	C	17: 24,040,291 (GRCm39)	S2408P	probably benign	Het
Stat3	G	A	11: 100,794,556 (GRCm39)	T251I	probably benign	Het
Sulf1	A	T	1: 12,929,039 (GRCm39)	D102V	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Trim17	A	T	11: 58,859,506 (GRCm39)	E240V	probably damaging	Het
Trim43b	A	T	9: 88,967,451 (GRCm39)	I395K	possibly damaging	Het
Trmt61a	C	A	12: 111,647,292 (GRCm39)	H130N	probably damaging	Het
Unc5b	A	C	10: 60,608,138 (GRCm39)	L654R	probably damaging	Het
Vmn1r66	A	T	7: 10,008,269 (GRCm39)	S255T	probably benign	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zbtb10	T	C	3: 9,345,109 (GRCm39)	F677S	probably benign	Het
Zfp493	T	A	13: 67,934,717 (GRCm39)	C223*	probably null	Het

Other mutations in Tmem145

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Tmem145	APN	7	25,014,155 (GRCm39)	missense	possibly damaging	0.88
IGL00958:Tmem145	APN	7	25,006,782 (GRCm39)	critical splice donor site	probably null
IGL01347:Tmem145	APN	7	25,014,260 (GRCm39)	missense	probably damaging	0.97
IGL01936:Tmem145	APN	7	25,010,816 (GRCm39)	missense	probably damaging	0.97
IGL02526:Tmem145	APN	7	25,007,657 (GRCm39)	missense	probably benign	0.20
IGL02686:Tmem145	APN	7	25,014,150 (GRCm39)	missense	probably damaging	1.00
IGL03182:Tmem145	APN	7	25,014,304 (GRCm39)	missense	probably damaging	1.00
R0087:Tmem145	UTSW	7	25,007,268 (GRCm39)	missense	probably damaging	1.00
R0180:Tmem145	UTSW	7	25,014,124 (GRCm39)	missense	probably benign	0.05
R0329:Tmem145	UTSW	7	25,008,099 (GRCm39)	splice site	probably benign
R0504:Tmem145	UTSW	7	25,010,787 (GRCm39)	missense	probably damaging	1.00
R1488:Tmem145	UTSW	7	25,006,860 (GRCm39)	splice site	probably null
R1681:Tmem145	UTSW	7	25,014,159 (GRCm39)	missense	possibly damaging	0.95
R2352:Tmem145	UTSW	7	25,005,598 (GRCm39)	missense	probably benign
R3834:Tmem145	UTSW	7	25,010,786 (GRCm39)	missense	probably damaging	1.00
R4175:Tmem145	UTSW	7	25,008,218 (GRCm39)	missense	probably benign	0.04
R4414:Tmem145	UTSW	7	25,006,554 (GRCm39)	missense	probably damaging	1.00
R4485:Tmem145	UTSW	7	25,006,587 (GRCm39)	missense	possibly damaging	0.76
R4631:Tmem145	UTSW	7	25,007,250 (GRCm39)	missense	probably benign	0.00
R4983:Tmem145	UTSW	7	25,008,027 (GRCm39)	missense	probably benign	0.03
R4999:Tmem145	UTSW	7	25,008,459 (GRCm39)	missense	probably benign	0.04
R5772:Tmem145	UTSW	7	25,015,039 (GRCm39)	missense	probably benign	0.21
R5821:Tmem145	UTSW	7	25,014,946 (GRCm39)	missense	probably benign	0.30
R6021:Tmem145	UTSW	7	25,008,270 (GRCm39)	splice site	probably null
R6430:Tmem145	UTSW	7	25,008,463 (GRCm39)	missense	possibly damaging	0.84
R6768:Tmem145	UTSW	7	25,008,061 (GRCm39)	missense	probably damaging	1.00
R6778:Tmem145	UTSW	7	25,010,801 (GRCm39)	missense	probably benign	0.04
R7428:Tmem145	UTSW	7	25,006,590 (GRCm39)	critical splice donor site	probably null
R7536:Tmem145	UTSW	7	25,007,294 (GRCm39)	missense	probably damaging	1.00
R7748:Tmem145	UTSW	7	25,006,753 (GRCm39)	nonsense	probably null
R7826:Tmem145	UTSW	7	25,006,939 (GRCm39)	missense	probably damaging	1.00
R8253:Tmem145	UTSW	7	25,006,939 (GRCm39)	missense	probably damaging	1.00
R8441:Tmem145	UTSW	7	25,008,200 (GRCm39)	missense	possibly damaging	0.62
R9129:Tmem145	UTSW	7	25,014,265 (GRCm39)	missense	possibly damaging	0.59
R9277:Tmem145	UTSW	7	25,009,165 (GRCm39)	missense	probably benign	0.14
R9297:Tmem145	UTSW	7	25,008,257 (GRCm39)	missense	probably damaging	1.00
Z1177:Tmem145	UTSW	7	25,009,071 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACAGATGTGACCTTTCTCCTC -3'
(R):5'- AGAAAACTCTGGAGGCCATAGC -3'

Sequencing Primer
(F):5'- AGATGTGACCTTTCTCCTCATCTTC -3'
(R):5'- CCGGGGAGTATAGATATAAGTCCTCC -3'

Posted On

2017-02-28