Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02677:Tmem8b'

303185

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem8b

Ensembl Gene

ENSMUSG00000078716

Gene Name

transmembrane protein 8B

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

IGL02677

Quality Score

Status

Chromosome

Chromosomal Location

43668971-43692668 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43686092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 241 (L241P)

Ref Sequence

ENSEMBL: ENSMUSP00000129760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107864] [ENSMUST00000107865] [ENSMUST00000107866] [ENSMUST00000143339] [ENSMUST00000167153]

AlphaFold

B1AWJ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000107864
AA Change: L241P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103496
Gene: ENSMUSG00000078716
AA Change: L241P

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
EGF	185	221	1.95e1	SMART
Pfam:DUF3522	229	415	2.1e-70	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107865
AA Change: L241P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103497
Gene: ENSMUSG00000078716
AA Change: L241P

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
EGF	185	221	1.95e1	SMART
Pfam:DUF3522	229	415	2.1e-70	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107866
AA Change: L700P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103498
Gene: ENSMUSG00000078716
AA Change: L700P

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
low complexity region	45	71	N/A	INTRINSIC
low complexity region	87	102	N/A	INTRINSIC
low complexity region	115	137	N/A	INTRINSIC
low complexity region	427	443	N/A	INTRINSIC
EGF	606	642	1.95e1	SMART
Pfam:DUF3522	652	836	1.4e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141864

Predicted Effect

probably benign
Transcript: ENSMUST00000143339

SMART Domains

Protein: ENSMUSP00000130133
Gene: ENSMUSG00000078716

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143774

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154112

Predicted Effect

probably damaging
Transcript: ENSMUST00000167153
AA Change: L241P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129760
Gene: ENSMUSG00000078716
AA Change: L241P

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
EGF	185	221	1.95e1	SMART
Pfam:DUF3522	229	415	2.1e-70	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	G	T	7: 43,501,095	Y84*	probably null	Het
4931406P16Rik	T	A	7: 34,242,409		probably benign	Het
Adam5	A	G	8: 24,812,379		probably benign	Het
Aipl1	T	C	11: 72,029,396	E282G	possibly damaging	Het
Akp3	A	G	1: 87,125,272	D61G	probably damaging	Het
Anpep	A	G	7: 79,838,730	S451P	probably damaging	Het
Csnka2ip	A	G	16: 64,478,312	L119P	probably damaging	Het
Ddx19a	T	C	8: 110,989,609	E53G	probably benign	Het
Ddx50	C	T	10: 62,616,293	R116Q	unknown	Het
Ddx60	A	T	8: 61,988,132	E1078D	probably damaging	Het
Dpy19l1	T	C	9: 24,485,072	D116G	probably damaging	Het
Dsg4	A	G	18: 20,464,876	T668A	possibly damaging	Het
Dspp	A	G	5: 104,175,977	T329A	possibly damaging	Het
Eftud2	T	C	11: 102,846,614	T554A	probably damaging	Het
Enpp1	T	C	10: 24,679,185		probably benign	Het
Ext2	A	T	2: 93,707,245	F599I	probably damaging	Het
Fahd1	A	T	17: 24,849,530	I191N	probably damaging	Het
Fcrls	A	T	3: 87,259,387	S100T	probably benign	Het
Fras1	T	A	5: 96,545,024	C181S	probably damaging	Het
Gcnt4	A	G	13: 96,947,233	I346V	probably benign	Het
Gfra1	G	A	19: 58,453,355	T48I	probably damaging	Het
Kcnma1	A	G	14: 23,463,156	Y392H	probably damaging	Het
Klc2	T	C	19: 5,111,668	Y298C	probably damaging	Het
Lamb3	G	A	1: 193,339,522	V1011I	probably benign	Het
Ldb1	T	C	19: 46,036,155		probably benign	Het
Mcph1	A	G	8: 18,625,593	K11E	probably damaging	Het
Myc	A	G	15: 61,989,664	H374R	probably damaging	Het
Myom1	A	G	17: 71,084,349	Y853C	probably damaging	Het
Olfr1282	A	T	2: 111,335,802	I92N	probably damaging	Het
Pakap	C	T	4: 57,856,263	P572S	probably benign	Het
Pclo	A	G	5: 14,676,929		probably benign	Het
Pde3a	G	A	6: 141,405,172		probably benign	Het
Per1	T	C	11: 69,106,660	V887A	probably benign	Het
Prokr1	G	A	6: 87,588,368		probably benign	Het
Rb1cc1	A	G	1: 6,249,419	I1021V	probably benign	Het
Ryr1	T	C	7: 29,110,608	E344G	probably benign	Het
Sec24c	A	T	14: 20,689,642	D529V	probably damaging	Het
Slc1a6	T	C	10: 78,789,064	V101A	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Tap2	G	A	17: 34,212,047	V374M	probably benign	Het
Tex15	T	A	8: 33,571,080	D179E	probably benign	Het
Tmprss11g	T	C	5: 86,492,290	D160G	probably benign	Het
Trim30a	C	T	7: 104,435,913	C30Y	probably damaging	Het
Ttn	A	G	2: 76,771,496		probably benign	Het
Ush2a	A	G	1: 188,734,685	R2849G	probably damaging	Het
Usp5	A	G	6: 124,819,426	V570A	probably damaging	Het
Vipr1	T	C	9: 121,660,283		probably benign	Het
Zc2hc1c	A	C	12: 85,290,076	D169A	probably benign	Het

Other mutations in Tmem8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02137:Tmem8b	APN	4	43689434	missense	probably benign	0.15
IGL03090:Tmem8b	APN	4	43689721	missense	probably damaging	0.99
IGL03379:Tmem8b	APN	4	43685561	missense	probably benign	0.42
R0321:Tmem8b	UTSW	4	43674444	missense	probably damaging	1.00
R0377:Tmem8b	UTSW	4	43674005	missense	probably damaging	1.00
R0456:Tmem8b	UTSW	4	43685618	missense	probably benign	0.04
R0629:Tmem8b	UTSW	4	43669896	splice site	probably null
R0646:Tmem8b	UTSW	4	43690123	missense	probably benign	0.01
R0690:Tmem8b	UTSW	4	43674562	missense	possibly damaging	0.69
R1484:Tmem8b	UTSW	4	43690234	missense	probably benign	0.01
R1558:Tmem8b	UTSW	4	43681134	missense	possibly damaging	0.95
R1733:Tmem8b	UTSW	4	43690228	splice site	probably null
R1999:Tmem8b	UTSW	4	43681300	missense	probably damaging	0.99
R2414:Tmem8b	UTSW	4	43673892	splice site	probably benign
R3799:Tmem8b	UTSW	4	43673892	splice site	probably benign
R3820:Tmem8b	UTSW	4	43689745	missense	probably damaging	0.99
R3821:Tmem8b	UTSW	4	43689745	missense	probably damaging	0.99
R4581:Tmem8b	UTSW	4	43685760	missense	probably damaging	1.00
R4852:Tmem8b	UTSW	4	43689713	missense	probably damaging	0.99
R5214:Tmem8b	UTSW	4	43673992	missense	probably benign	0.09
R5311:Tmem8b	UTSW	4	43673992	missense	probably benign	0.09
R5448:Tmem8b	UTSW	4	43673992	missense	probably benign	0.09
R5449:Tmem8b	UTSW	4	43673992	missense	probably benign	0.09
R5450:Tmem8b	UTSW	4	43673992	missense	probably benign	0.09
R6245:Tmem8b	UTSW	4	43690246	missense	probably benign	0.14
R6615:Tmem8b	UTSW	4	43682249	missense	probably damaging	1.00
R6693:Tmem8b	UTSW	4	43669837	missense	probably benign	0.00
R6944:Tmem8b	UTSW	4	43674465	missense	probably damaging	1.00
R6994:Tmem8b	UTSW	4	43690192	missense	probably damaging	0.96
R7136:Tmem8b	UTSW	4	43669845	missense	possibly damaging	0.83
R7704:Tmem8b	UTSW	4	43689461	missense	probably damaging	0.96
R8048:Tmem8b	UTSW	4	43689476	missense	possibly damaging	0.92
R8064:Tmem8b	UTSW	4	43690139	missense	probably damaging	1.00
R9124:Tmem8b	UTSW	4	43681982	missense	probably benign	0.23
R9293:Tmem8b	UTSW	4	43686188	missense	probably damaging	1.00
R9447:Tmem8b	UTSW	4	43685766	missense	probably damaging	1.00
R9491:Tmem8b	UTSW	4	43673938	missense	probably damaging	1.00
Z1176:Tmem8b	UTSW	4	43689710	missense	probably damaging	1.00

Posted On

2015-04-16