Mutagenetix > Incidental Mutation

Incidental Mutation 'R7521:Tmem30b'

582674

Institutional Source

Beutler Lab

Gene Symbol

Tmem30b

Ensembl Gene

ENSMUSG00000034435

Gene Name

transmembrane protein 30B

Synonyms

9130011B11Rik

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

73590176-73593166 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73592092 bp (GRCm39)

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: 31,283,543 (GRCm39)	N76S	probably benign	Het
Ahnak	T	C	19: 8,979,715 (GRCm39)	V333A	possibly damaging	Het
Arid1b	GGCGGC	GGCGGCAGCGGC	17: 5,046,135 (GRCm39)		probably benign	Het
Arid1b	GGGCGGCGGCGGCGGCGGCGGCGG	GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	17: 5,046,119 (GRCm39)		probably benign	Het
Arid1b	A	G	17: 5,392,865 (GRCm39)	T2079A	probably benign	Het
Clca3a2	A	G	3: 144,507,674 (GRCm39)	*190R	probably null	Het
Cntnap3	G	T	13: 64,919,815 (GRCm39)	Q681K	probably benign	Het
Coro7	T	C	16: 4,449,346 (GRCm39)	D689G	probably benign	Het
Dnah9	A	T	11: 65,880,663 (GRCm39)	S2645T	probably damaging	Het
Dnm3	A	T	1: 161,962,113 (GRCm39)	L32H	probably damaging	Het
Dtx4	T	C	19: 12,469,861 (GRCm39)	K89E	probably benign	Het
Exph5	T	A	9: 53,285,377 (GRCm39)	N819K	possibly damaging	Het
Fpgt	A	G	3: 154,792,765 (GRCm39)	S421P	possibly damaging	Het
Gbp5	T	C	3: 142,206,382 (GRCm39)	V22A	probably benign	Het
Gpatch1	C	T	7: 34,993,213 (GRCm39)	R544Q	probably damaging	Het
Grm5	T	A	7: 87,723,480 (GRCm39)	L590Q	possibly damaging	Het
Hc	T	C	2: 34,935,344 (GRCm39)	D172G	possibly damaging	Het
Ifi209	A	T	1: 173,470,261 (GRCm39)	N283I	probably damaging	Het
Igsf11	C	T	16: 38,829,274 (GRCm39)	T115M	probably damaging	Het
Il17rd	T	A	14: 26,816,823 (GRCm39)	M320K	probably benign	Het
Kdm5a	T	A	6: 120,409,148 (GRCm39)	C1610*	probably null	Het
Mast3	T	A	8: 71,241,412 (GRCm39)	I175L	probably benign	Het
Mif	A	T	10: 75,695,942 (GRCm39)	S21T	possibly damaging	Het
Mindy2	T	C	9: 70,514,792 (GRCm39)	Q542R	probably benign	Het
Nalcn	T	A	14: 123,530,870 (GRCm39)	E1389D	probably damaging	Het
Or55b3	C	T	7: 102,126,402 (GRCm39)	R225H	possibly damaging	Het
Or5k8	T	C	16: 58,644,257 (GRCm39)	I272V	probably benign	Het
Or5t16	T	A	2: 86,818,954 (GRCm39)	T189S	probably damaging	Het
Or7e177	T	C	9: 20,212,036 (GRCm39)	I181T	probably benign	Het
Pcsk5	T	A	19: 17,432,196 (GRCm39)	D1473V	probably benign	Het
Phax	C	T	18: 56,708,990 (GRCm39)	Q185*	probably null	Het
Ppp2r2b	T	A	18: 43,192,242 (GRCm39)	S22C	probably benign	Het
Prss40	A	G	1: 34,597,090 (GRCm39)	F153L	probably benign	Het
Slc22a2	T	C	17: 12,805,710 (GRCm39)	S154P	probably benign	Het
Speer4a1	G	A	5: 26,241,763 (GRCm39)	T121I	probably damaging	Het
Tacc1	A	G	8: 25,665,268 (GRCm39)	V488A	possibly damaging	Het
Tdrp	G	A	8: 14,003,831 (GRCm39)	Q169*	probably null	Het

Other mutations in Tmem30b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0034:Tmem30b	UTSW	12	73,592,779 (GRCm39)	missense	probably damaging	1.00
R0492:Tmem30b	UTSW	12	73,592,942 (GRCm39)	missense	probably benign	0.24
R0707:Tmem30b	UTSW	12	73,592,942 (GRCm39)	missense	probably benign	0.24
R2135:Tmem30b	UTSW	12	73,592,107 (GRCm39)	missense	probably damaging	1.00
R3615:Tmem30b	UTSW	12	73,592,353 (GRCm39)	missense	probably damaging	1.00
R3616:Tmem30b	UTSW	12	73,592,353 (GRCm39)	missense	probably damaging	1.00
R4858:Tmem30b	UTSW	12	73,592,686 (GRCm39)	missense	probably damaging	1.00
R4922:Tmem30b	UTSW	12	73,592,488 (GRCm39)	missense	probably damaging	1.00
R5649:Tmem30b	UTSW	12	73,592,940 (GRCm39)	missense	probably benign	0.10
R7391:Tmem30b	UTSW	12	73,592,702 (GRCm39)	missense	probably benign	0.00
R9054:Tmem30b	UTSW	12	73,592,923 (GRCm39)	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