Mutagenetix > Incidental Mutations

Incidental Mutation 'R5649:Tmem30b'

441332

Institutional Source

Beutler Lab

Gene Symbol

Tmem30b

Ensembl Gene

ENSMUSG00000034435

Gene Name

transmembrane protein 30B

Synonyms

MMRRC Submission

043170-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73543402-73546392 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 73546166 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 58 (N58K)

Ref Sequence

ENSEMBL: ENSMUSP00000037476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042975]

Predicted Effect

probably benign
Transcript: ENSMUST00000042975
AA Change: N58K

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000037476
Gene: ENSMUSG00000034435
AA Change: N58K

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
Pfam:CDC50	54	347	3.2e-93	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222490

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,972	E33G	probably benign	Het
Abca12	T	C	1: 71,291,342	T1385A	probably damaging	Het
Apc2	T	A	10: 80,314,138	D1646E	probably damaging	Het
Aspm	G	A	1: 139,479,669	R2098H	probably benign	Het
Atl3	C	A	19: 7,532,227	T435N	possibly damaging	Het
Cdh22	G	T	2: 165,116,280	T589K	probably damaging	Het
Cnot3	T	C	7: 3,658,083	L561S	probably benign	Het
Col5a1	A	G	2: 27,951,456	D363G	unknown	Het
Cyp24a1	T	C	2: 170,496,309	D105G	possibly damaging	Het
Dennd4a	C	A	9: 64,851,209		probably null	Het
Dnah8	A	G	17: 30,800,587	K3878R	probably benign	Het
Dock4	T	C	12: 40,844,540	S1900P	probably benign	Het
Fancg	A	G	4: 43,008,736	L167P	probably damaging	Het
Ighd2-8	A	G	12: 113,450,867	S1P	possibly damaging	Het
Kif28	A	G	1: 179,697,771		probably null	Het
Mrpl55	T	A	11: 59,204,571	C20*	probably null	Het
Myo5a	A	G	9: 75,171,719	K920E	possibly damaging	Het
Naa35	G	A	13: 59,622,866		probably benign	Het
Olfm3	A	G	3: 115,096,924	R76G	probably damaging	Het
Olfr304	T	C	7: 86,386,313	M116V	probably damaging	Het
Olfr705	T	C	7: 106,714,166	R172G	possibly damaging	Het
Pcdha12	A	T	18: 37,022,415	D729V	probably benign	Het
Phf11c	T	C	14: 59,385,532		probably null	Het
Phf20	T	A	2: 156,251,768		probably null	Het
Plbd1	T	A	6: 136,616,989	Y376F	probably benign	Het
Poglut1	A	G	16: 38,531,811	V257A	probably damaging	Het
Reln	A	G	5: 21,901,625	I3249T	probably benign	Het
Rgsl1	G	A	1: 153,825,893	P272S	possibly damaging	Het
Slc15a2	A	T	16: 36,772,110	Y197*	probably null	Het
Slc45a2	C	T	15: 11,012,607	T232I	probably benign	Het
Ssc5d	T	A	7: 4,926,518		probably null	Het
Thbs2	T	C	17: 14,689,953	Y128C	probably damaging	Het
Them4	A	T	3: 94,331,544	L219F	possibly damaging	Het
Ttc29	G	A	8: 78,246,313	E131K	possibly damaging	Het
Vmn1r29	C	G	6: 58,307,691	S132C	probably benign	Het
Vmn1r53	G	A	6: 90,223,760	A194V	probably benign	Het
Wdr86	A	T	5: 24,718,087	H202Q	probably benign	Het
Xirp2	A	G	2: 67,516,895	D3160G	probably benign	Het
Xkr5	T	C	8: 18,933,966	D520G	probably benign	Het
Zfp607b	T	G	7: 27,703,981	C621G	probably damaging	Het

Other mutations in Tmem30b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0034:Tmem30b	UTSW	12	73546005	missense	probably damaging	1.00
R0492:Tmem30b	UTSW	12	73546168	missense	probably benign	0.24
R0707:Tmem30b	UTSW	12	73546168	missense	probably benign	0.24
R2135:Tmem30b	UTSW	12	73545333	missense	probably damaging	1.00
R3615:Tmem30b	UTSW	12	73545579	missense	probably damaging	1.00
R3616:Tmem30b	UTSW	12	73545579	missense	probably damaging	1.00
R4858:Tmem30b	UTSW	12	73545912	missense	probably damaging	1.00
R4922:Tmem30b	UTSW	12	73545714	missense	probably damaging	1.00
R7391:Tmem30b	UTSW	12	73545928	missense	probably benign	0.00
R7521:Tmem30b	UTSW	12	73545318	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GTTGGACAGCTCGTAGTAGAGG -3'
(R):5'- CTGATCCTGGGTTGAGAGTC -3'

Sequencing Primer
(F):5'- CAGCTCGTAGTAGAGGTACAC -3'
(R):5'- TGAGATCCCCGCCATGAC -3'

Posted On

2016-11-08