Mutagenetix > Incidental Mutation

Incidental Mutation 'R0629:Tmem8b'

57743

Institutional Source

Beutler Lab

Gene Symbol

Tmem8b

Ensembl Gene

ENSMUSG00000078716

Gene Name

transmembrane protein 8B

Synonyms

MMRRC Submission

038818-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R0629 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

43668971-43692668 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 43669896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056474] [ENSMUST00000107864] [ENSMUST00000107864] [ENSMUST00000107865] [ENSMUST00000107866] [ENSMUST00000143339] [ENSMUST00000167153]

AlphaFold

B1AWJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000056474

SMART Domains

Protein: ENSMUSP00000057398
Gene: ENSMUSG00000043633

Domain	Start	End	E-Value	Type
low complexity region	81	105	N/A	INTRINSIC
internal_repeat_1	119	164	1.12e-19	PROSPERO
internal_repeat_1	165	210	1.12e-19	PROSPERO
low complexity region	267	285	N/A	INTRINSIC
Pfam:DUF4475	312	482	1.7e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107864

SMART Domains

Protein: ENSMUSP00000103496
Gene: ENSMUSG00000078716

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 null
Transcript: ENSMUST00000107864

SMART Domains

Protein: ENSMUSP00000103496
Gene: ENSMUSG00000078716

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 benign
Transcript: ENSMUST00000107865

SMART Domains

Protein: ENSMUSP00000103497
Gene: ENSMUSG00000078716

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

possibly damaging
Transcript: ENSMUST00000107866
AA Change: C131G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103498
Gene: ENSMUSG00000078716
AA Change: C131G

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: ENSMUST00000134487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141864

Predicted Effect

probably null
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

probably benign
Transcript: ENSMUST00000167153

SMART Domains

Protein: ENSMUSP00000129760
Gene: ENSMUSG00000078716

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

Meta Mutation Damage Score

0.8677

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,507,547	D86V	probably damaging	Het
Adamts14	G	A	10: 61,211,624	Q733*	probably null	Het
Adcy10	A	G	1: 165,543,105	D651G	probably damaging	Het
Apcdd1	T	A	18: 62,933,970	C52S	probably damaging	Het
Bclaf1	T	C	10: 20,333,426	S463P	probably damaging	Het
Cabcoco1	T	C	10: 68,516,278	Y68C	probably damaging	Het
Cacna1f	G	A	X: 7,620,434	S888N	probably damaging	Het
Cacna1g	A	G	11: 94,409,543	C2134R	possibly damaging	Het
Cdc37	A	C	9: 21,140,768	M325R	possibly damaging	Het
Clca2	T	A	3: 145,072,239	M762L	probably benign	Het
Cntn3	C	T	6: 102,203,976	V753M	probably damaging	Het
Col6a6	A	T	9: 105,727,165		probably benign	Het
Dscaml1	A	G	9: 45,721,418	D1194G	probably damaging	Het
Egfr	G	A	11: 16,869,333	G288S	probably damaging	Het
Fbxl17	G	T	17: 63,471,414	N19K	probably damaging	Het
Fmo3	A	G	1: 162,958,227		probably benign	Het
Frmd6	T	C	12: 70,883,762	Y219H	probably damaging	Het
Fuca1	T	C	4: 135,925,644	V193A	possibly damaging	Het
Gm1141	G	C	X: 71,938,773	R296P	possibly damaging	Het
Gm7461	C	T	8: 4,677,769		noncoding transcript	Het
Gpc5	T	A	14: 115,552,239	N508K	possibly damaging	Het
Iqch	A	T	9: 63,425,382	D1019E	probably benign	Het
Isyna1	A	G	8: 70,594,708	Y27C	probably damaging	Het
Itgb8	T	G	12: 119,202,481	H105P	probably benign	Het
Kbtbd11	C	T	8: 15,027,572	P57L	probably benign	Het
Kcns3	A	C	12: 11,092,558	C47G	probably damaging	Het
Kif21b	A	T	1: 136,172,157		probably null	Het
Lama3	A	T	18: 12,419,245	H418L	possibly damaging	Het
Lrit3	A	G	3: 129,788,302	Y679H	probably damaging	Het
Lrrc19	T	A	4: 94,638,252	D356V	probably damaging	Het
Morc2b	A	G	17: 33,135,807	M997T	probably benign	Het
Mroh9	T	C	1: 163,060,636	H290R	possibly damaging	Het
Mtcl1	A	T	17: 66,338,142	S1886T	possibly damaging	Het
Muc20	T	C	16: 32,793,421	T529A	possibly damaging	Het
Myo7a	A	C	7: 98,085,466	L607R	probably damaging	Het
Myom2	T	A	8: 15,069,783	F180I	probably damaging	Het
Myt1l	G	A	12: 29,811,485	E89K	unknown	Het
Nek2	A	G	1: 191,831,317	N431S	probably benign	Het
Olfr1086	T	A	2: 86,676,529	H268L	possibly damaging	Het
Olfr169	A	T	16: 19,565,980	V301E	possibly damaging	Het
Oprm1	A	T	10: 6,832,604		probably null	Het
Oxsr1	A	G	9: 119,241,784		probably benign	Het
Pdgfrb	G	A	18: 61,078,648		probably null	Het
Proser1	C	A	3: 53,479,064	P789Q	probably benign	Het
Ptgs2	A	G	1: 150,101,037	Q7R	probably benign	Het
Rab3d	A	G	9: 21,914,686	V144A	probably benign	Het
Ralgapb	T	A	2: 158,439,547	L167H	probably damaging	Het
Ranbp3	A	G	17: 56,708,200	T301A	possibly damaging	Het
Rasgrf1	G	A	9: 89,984,269	V587M	probably damaging	Het
Sec16b	A	G	1: 157,564,863		probably benign	Het
Sin3b	T	C	8: 72,753,536		probably benign	Het
Slc10a2	T	C	8: 5,098,562	S128G	probably benign	Het
Tbl1xr1	G	A	3: 22,210,401	V507I	probably benign	Het
Trak1	A	T	9: 121,367,167	T22S	probably benign	Het
Trim30d	A	G	7: 104,487,655	I114T	probably damaging	Het
Ttc13	A	T	8: 124,674,366	S624T	probably damaging	Het
Ttn	T	C	2: 76,828,130		probably benign	Het
Vipr1	T	A	9: 121,660,171	Y99*	probably null	Het
Vmn1r210	T	C	13: 22,827,874	K81E	probably damaging	Het
Wwc1	T	C	11: 35,853,472	Y841C	probably benign	Het
Xrcc4	A	G	13: 90,000,905		probably benign	Het
Zdhhc22	A	T	12: 86,988,297	I127N	probably damaging	Het
Zdhhc7	A	G	8: 120,088,046	L8P	possibly damaging	Het
Zfp664	C	A	5: 124,885,595	L18I	probably damaging	Het

Other mutations in Tmem8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02137:Tmem8b	APN	4	43689434	missense	probably benign	0.15
IGL02677:Tmem8b	APN	4	43686092	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTGTCACAATTCCCAGCCCAGC -3'
(R):5'- ACTCAAGGAGTCAGGATGGACACC -3'

Sequencing Primer
(F):5'- ccagcccagcatctgac -3'
(R):5'- CTTGAGGACTATTAGCAACCTGC -3'

Posted On

2013-07-11