Mutagenetix > Incidental Mutation

Incidental Mutation 'R7521:Tmem30b'

582674

Institutional Source

Beutler Lab

Gene Symbol

Tmem30b

Ensembl Gene

ENSMUSG00000034435

Gene Name

transmembrane protein 30B

Synonyms

MMRRC Submission

045593-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7521 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73543402-73546392 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73545318 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 341 (R341H)

Ref Sequence

ENSEMBL: ENSMUSP00000037476 (fasta)

Gene Model

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

AlphaFold

Q8BHG3

Predicted Effect

probably benign
Transcript: ENSMUST00000042975
AA Change: R341H

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000037476
Gene: ENSMUSG00000034435
AA Change: R341H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	A	G	17: 31,064,569	N76S	probably benign	Het
Ahnak	T	C	19: 9,002,351	V333A	possibly damaging	Het
Arid1b	GGGCGGCGGCGGCGGCGGCGGCGG	GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	17: 4,995,844		probably benign	Het
Arid1b	GGCGGC	GGCGGCAGCGGC	17: 4,995,860		probably benign	Het
Arid1b	A	G	17: 5,342,590	T2079A	probably benign	Het
Clca3a2	A	G	3: 144,801,913	*190R	probably null	Het
Cntnap3	G	T	13: 64,772,001	Q681K	probably benign	Het
Coro7	T	C	16: 4,631,482	D689G	probably benign	Het
Dnah9	A	T	11: 65,989,837	S2645T	probably damaging	Het
Dnm3	A	T	1: 162,134,544	L32H	probably damaging	Het
Dtx4	T	C	19: 12,492,497	K89E	probably benign	Het
Exph5	T	A	9: 53,374,077	N819K	possibly damaging	Het
Fpgt	A	G	3: 155,087,128	S421P	possibly damaging	Het
Gbp5	T	C	3: 142,500,621	V22A	probably benign	Het
Gpatch1	C	T	7: 35,293,788	R544Q	probably damaging	Het
Grm5	T	A	7: 88,074,272	L590Q	possibly damaging	Het
Hc	T	C	2: 35,045,332	D172G	possibly damaging	Het
Ifi209	A	T	1: 173,642,695	N283I	probably damaging	Het
Igsf11	C	T	16: 39,008,912	T115M	probably damaging	Het
Il17rd	T	A	14: 27,094,866	M320K	probably benign	Het
Kdm5a	T	A	6: 120,432,187	C1610*	probably null	Het
Mast3	T	A	8: 70,788,768	I175L	probably benign	Het
Mif	A	T	10: 75,860,108	S21T	possibly damaging	Het
Mindy2	T	C	9: 70,607,510	Q542R	probably benign	Het
Nalcn	T	A	14: 123,293,458	E1389D	probably damaging	Het
Olfr1101	T	A	2: 86,988,610	T189S	probably damaging	Het
Olfr175-ps1	T	C	16: 58,823,894	I272V	probably benign	Het
Olfr543	C	T	7: 102,477,195	R225H	possibly damaging	Het
Olfr873	T	C	9: 20,300,740	I181T	probably benign	Het
Pcsk5	T	A	19: 17,454,832	D1473V	probably benign	Het
Phax	C	T	18: 56,575,918	Q185*	probably null	Het
Ppp2r2b	T	A	18: 43,059,177	S22C	probably benign	Het
Prss40	A	G	1: 34,558,009	F153L	probably benign	Het
Slc22a2	T	C	17: 12,586,823	S154P	probably benign	Het
Speer4a	G	A	5: 26,036,765	T121I	probably damaging	Het
Tacc1	A	G	8: 25,175,252	V488A	possibly damaging	Het
Tdrp	G	A	8: 13,953,831	Q169*	probably null	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
R5649:Tmem30b	UTSW	12	73546166	missense	probably benign	0.10
R7391:Tmem30b	UTSW	12	73545928	missense	probably benign	0.00
R9054:Tmem30b	UTSW	12	73546149	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- AAAATGGCAAGATGTGTCACTCTG -3'
(R):5'- GCACCTACCGTGTCAACATC -3'

Sequencing Primer
(F):5'- AAGATGTGTCACTCTGCAGTCCAG -3'
(R):5'- TCACCTACAACTACCCGGTG -3'

Posted On

2019-10-17