Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01924:Tmem144'

180208

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem144

Ensembl Gene

ENSMUSG00000027956

Gene Name

transmembrane protein 144

Synonyms

5730537D05Rik, 1110057I03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL01924

Quality Score

Status

Chromosome

Chromosomal Location

79812564-79852773 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79839194 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 18 (A18E)

Ref Sequence

ENSEMBL: ENSMUSP00000142289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029568] [ENSMUST00000168038] [ENSMUST00000192341] [ENSMUST00000193410]

AlphaFold

Q8VEH0

Predicted Effect

probably damaging
Transcript: ENSMUST00000029568
AA Change: A18E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029568
Gene: ENSMUSG00000027956
AA Change: A18E

Domain	Start	End	E-Value	Type
Pfam:DUF1632	11	266	3.7e-107	PFAM
Pfam:Sugar_transport	238	348	3.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104273

Predicted Effect

probably damaging
Transcript: ENSMUST00000168038
AA Change: A18E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127837
Gene: ENSMUSG00000027956
AA Change: A18E

Domain	Start	End	E-Value	Type
Pfam:TMEM144	9	347	9.1e-142	PFAM
Pfam:Sugar_transport	238	348	4.9e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000192341
AA Change: A18E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000193410
AA Change: A18E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141832
Gene: ENSMUSG00000027956
AA Change: A18E

Domain	Start	End	E-Value	Type
Pfam:DUF1632	11	137	7.3e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194338

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,223,986		probably benign	Het
Adamts13	A	G	2: 26,996,583	E938G	possibly damaging	Het
Aox2	C	T	1: 58,287,743	T167I	possibly damaging	Het
Apba3	G	T	10: 81,273,073	A557S	probably benign	Het
Atad2b	T	C	12: 5,034,093	L1382P	probably damaging	Het
Atrn	C	T	2: 130,935,565	T178I	probably damaging	Het
B4galnt1	A	G	10: 127,166,761	S88G	probably benign	Het
Baz2b	T	C	2: 59,935,271	K887E	probably damaging	Het
Ccdc162	A	C	10: 41,569,887	F430V	probably damaging	Het
Cdc42bpb	T	A	12: 111,317,453		probably benign	Het
Chit1	A	G	1: 134,149,410	D317G	probably benign	Het
Chrnb1	A	T	11: 69,795,019		probably benign	Het
Cobl	G	T	11: 12,254,596	T620K	probably benign	Het
Creld1	T	C	6: 113,483,960	F20L	probably benign	Het
Csmd2	A	T	4: 128,559,947	D3475V	unknown	Het
Cyp3a57	A	G	5: 145,372,629	D259G	probably benign	Het
Dbnl	A	G	11: 5,797,142	Y224C	probably damaging	Het
Det1	A	T	7: 78,843,823	C144*	probably null	Het
Fbxo47	G	T	11: 97,856,160	A360D	probably damaging	Het
Frrs1	G	A	3: 116,885,239	G237R	probably damaging	Het
Gatsl2	T	C	5: 134,135,602	F134S	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm4788	G	A	1: 139,739,206	L444F	probably damaging	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Gria2	T	C	3: 80,710,331	T372A	probably benign	Het
Hmcn2	A	T	2: 31,398,917	Q2246L	probably benign	Het
Ide	T	C	19: 37,272,164	M930V	unknown	Het
Kdm5a	T	C	6: 120,394,255		probably null	Het
Khnyn	A	G	14: 55,894,969	T625A	probably benign	Het
Lrrtm1	T	C	6: 77,244,186	F209L	possibly damaging	Het
Med13	C	A	11: 86,308,696		probably benign	Het
Myom2	A	G	8: 15,069,685	E147G	probably benign	Het
Myrip	T	A	9: 120,388,264	V88D	probably damaging	Het
Nbeal2	T	C	9: 110,631,414	H1784R	probably benign	Het
Nlrp4e	T	A	7: 23,320,830	C247*	probably null	Het
Nup54	G	A	5: 92,424,435	P252L	probably benign	Het
Olfr610	A	G	7: 103,506,796	I50T	possibly damaging	Het
Otoa	C	A	7: 121,105,968	N244K	probably damaging	Het
Pbrm1	G	A	14: 31,082,604	R960H	probably damaging	Het
Ptcd3	A	T	6: 71,898,427	N190K	probably damaging	Het
Rhobtb1	T	A	10: 69,270,304	L233H	probably damaging	Het
Sec24c	T	A	14: 20,689,689	F545I	probably damaging	Het
Slc6a15	T	C	10: 103,404,825		probably null	Het
Slitrk1	G	A	14: 108,911,239	A680V	probably benign	Het
Smpd1	C	T	7: 105,555,448	S178L	probably benign	Het
Spindoc	A	G	19: 7,382,677	L42P	probably damaging	Het
Tenm4	A	G	7: 96,895,212	E2145G	probably damaging	Het
Tmem213	A	T	6: 38,109,438	S10C	possibly damaging	Het
Trav6-3	A	T	14: 53,430,343	I102L	probably benign	Het
Trip11	T	G	12: 101,886,884	N483T	possibly damaging	Het
Unc13b	C	T	4: 43,239,385	R1056*	probably null	Het
Wdr27	T	G	17: 14,917,226	K433N	probably damaging	Het
Wls	C	A	3: 159,901,443	S189*	probably null	Het
Yeats2	A	G	16: 20,206,167	N706D	probably damaging	Het
Zbp1	A	G	2: 173,212,254	V158A	probably benign	Het
Zfp595	G	T	13: 67,317,783	H139N	possibly damaging	Het

Other mutations in Tmem144

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Tmem144	APN	3	79839167	missense	probably benign	0.19
IGL02080:Tmem144	APN	3	79822759	splice site	probably benign
IGL02191:Tmem144	APN	3	79826852	missense	possibly damaging	0.59
IGL02880:Tmem144	APN	3	79827622	missense	probably benign	0.00
PIT4486001:Tmem144	UTSW	3	79826867	missense	probably benign	0.00
R0080:Tmem144	UTSW	3	79839273	start gained	probably benign
R0081:Tmem144	UTSW	3	79839273	start gained	probably benign
R0164:Tmem144	UTSW	3	79839273	start gained	probably benign
R0172:Tmem144	UTSW	3	79839273	start gained	probably benign
R0173:Tmem144	UTSW	3	79839273	start gained	probably benign
R0284:Tmem144	UTSW	3	79839273	start gained	probably benign
R0285:Tmem144	UTSW	3	79839273	start gained	probably benign
R0288:Tmem144	UTSW	3	79839273	start gained	probably benign
R0445:Tmem144	UTSW	3	79825354	missense	probably benign	0.01
R0549:Tmem144	UTSW	3	79822744	missense	probably damaging	1.00
R0687:Tmem144	UTSW	3	79839273	start gained	probably benign
R1720:Tmem144	UTSW	3	79825299	missense	probably damaging	1.00
R1748:Tmem144	UTSW	3	79825287	missense	probably damaging	0.99
R1937:Tmem144	UTSW	3	79825304	missense	probably damaging	0.99
R1955:Tmem144	UTSW	3	79826857	missense	probably benign	0.13
R1978:Tmem144	UTSW	3	79825400	splice site	probably null
R2025:Tmem144	UTSW	3	79827711	splice site	probably null
R5241:Tmem144	UTSW	3	79814124	missense	probably benign	0.13
R6674:Tmem144	UTSW	3	79839183	missense	possibly damaging	0.91
R6862:Tmem144	UTSW	3	79832099	missense	probably benign
R7536:Tmem144	UTSW	3	79827657	missense	probably benign
R8033:Tmem144	UTSW	3	79825317	missense	probably benign
R8746:Tmem144	UTSW	3	79825348	missense	probably damaging	0.97
R8748:Tmem144	UTSW	3	79836232	critical splice donor site	probably null
R9223:Tmem144	UTSW	3	79827657	missense	probably benign
R9641:Tmem144	UTSW	3	79826893	missense	probably benign	0.10
R9658:Tmem144	UTSW	3	79822684	missense	probably damaging	1.00
RF012:Tmem144	UTSW	3	79822654	missense	probably damaging	1.00

Posted On

2014-05-07