Mutagenetix > Incidental Mutations

Incidental Mutation 'R0707:Tmem30b'

63187

Institutional Source

Beutler Lab

Gene Symbol

Tmem30b

Ensembl Gene

ENSMUSG00000034435

Gene Name

transmembrane protein 30B

Synonyms

MMRRC Submission

038890-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0707 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73543402-73546392 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73546168 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 58 (N58D)

Ref Sequence

ENSEMBL: ENSMUSP00000037476 (fasta)

Gene Model

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

AlphaFold

Q8BHG3

Predicted Effect

probably benign
Transcript: ENSMUST00000042975
AA Change: N58D

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000037476
Gene: ENSMUSG00000034435
AA Change: N58D

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

Meta Mutation Damage Score

0.1037

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,258,321	N2881K	unknown	Het
Acot11	A	G	4: 106,760,132	F259S	probably damaging	Het
Aldh16a1	T	A	7: 45,144,507		probably benign	Het
Ankrd24	A	T	10: 81,642,713		probably benign	Het
Arhgap5	T	C	12: 52,518,168	S641P	probably damaging	Het
Arpp21	A	C	9: 112,157,756	S242R	probably benign	Het
Bpifb5	A	G	2: 154,228,900	T204A	probably benign	Het
Bud31	A	G	5: 145,146,455	Y77C	probably damaging	Het
Ccdc65	G	A	15: 98,709,214	V101I	possibly damaging	Het
Ccr7	T	A	11: 99,145,983	T38S	probably damaging	Het
Cdc14a	T	C	3: 116,293,713		probably benign	Het
Ces2f	C	T	8: 104,950,986	H208Y	possibly damaging	Het
Chst1	C	A	2: 92,613,619	N145K	possibly damaging	Het
Clock	A	G	5: 76,227,129	V731A	possibly damaging	Het
Cog6	C	T	3: 53,013,862	V108I	possibly damaging	Het
Crtc2	T	A	3: 90,263,497	F626I	probably damaging	Het
Dicer1	A	T	12: 104,706,885	F792I	probably damaging	Het
Dnajc13	T	C	9: 104,172,582	K1780R	probably benign	Het
Dph5	A	C	3: 115,915,133	N155H	probably benign	Het
Dscam	T	C	16: 96,825,782		probably null	Het
Etl4	C	A	2: 20,805,571		probably benign	Het
Flt3l	T	C	7: 45,136,026	S9G	probably benign	Het
Fmnl2	A	G	2: 53,054,486	E159G	possibly damaging	Het
Fryl	A	G	5: 73,083,372	I1295T	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,577,224		probably null	Het
Gatad2b	T	A	3: 90,356,182	S529T	probably benign	Het
Herc6	G	A	6: 57,662,362	G905E	possibly damaging	Het
Hhip	T	A	8: 79,998,255	N296I	probably damaging	Het
Hmgcr	A	T	13: 96,650,643		probably benign	Het
Kalrn	T	G	16: 34,010,581	N723H	possibly damaging	Het
Mroh5	T	A	15: 73,790,739	Y242F	possibly damaging	Het
Msh3	T	A	13: 92,347,340	K258*	probably null	Het
Myo1a	T	C	10: 127,719,863		probably benign	Het
Nlrp4f	C	T	13: 65,194,503	E443K	probably benign	Het
Nupr1l	A	G	5: 129,908,692	Y34C	probably damaging	Het
Ociad1	T	C	5: 73,294,912		probably benign	Het
Olfr1469	A	T	19: 13,411,420	M284L	probably benign	Het
Olfr313	T	A	11: 58,817,751	L248M	probably damaging	Het
Olfr366	A	T	2: 37,220,196	K236*	probably null	Het
Olfr467	A	G	7: 107,815,124	D182G	probably damaging	Het
Olfr522	T	C	7: 140,162,089	N287S	probably damaging	Het
P2ry12	C	A	3: 59,217,487	V256F	probably damaging	Het
Pcdhb22	T	A	18: 37,518,851	I124N	probably damaging	Het
Pcnt	A	G	10: 76,420,541	F622L	probably damaging	Het
Pfas	A	T	11: 68,998,037	N361K	probably benign	Het
Plod2	T	G	9: 92,605,427	L600V	possibly damaging	Het
Pole	T	C	5: 110,298,988	Y631H	probably damaging	Het
Proser1	T	C	3: 53,478,776	L693P	probably damaging	Het
Ptprd	A	G	4: 75,957,239	Y1195H	probably damaging	Het
Rbm27	T	A	18: 42,326,026		probably null	Het
Ric8a	A	G	7: 140,857,973		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rimkla	C	T	4: 119,477,980	V69M	probably damaging	Het
Scfd1	A	T	12: 51,412,577	K307M	probably damaging	Het
Sh2b2	A	G	5: 136,232,263	F33S	probably damaging	Het
Smg7	T	G	1: 152,870,757		probably null	Het
Srebf1	T	C	11: 60,204,116	T486A	probably benign	Het
Strn3	G	A	12: 51,610,404	T642I	probably damaging	Het
Syne2	T	C	12: 75,982,063		probably null	Het
Syne3	A	G	12: 104,969,360	L53P	probably damaging	Het
Tcea1	T	A	1: 4,880,346		probably benign	Het
Tnpo1	A	G	13: 98,855,446	Y641H	probably damaging	Het
Trim25	A	T	11: 88,999,738	T84S	probably benign	Het
Trip4	A	T	9: 65,839,004	F537I	possibly damaging	Het
Uaca	G	A	9: 60,848,618		probably benign	Het
Ugt2b34	T	A	5: 86,892,899	Y388F	possibly damaging	Het
Vmn2r71	T	C	7: 85,619,432	V281A	probably benign	Het
Vps13d	A	T	4: 145,155,932	D1030E	probably damaging	Het
Vps8	C	A	16: 21,442,357	F82L	probably damaging	Het
Zfp296	A	G	7: 19,579,736	D172G	probably benign	Het
Zfp977	C	A	7: 42,580,534	C189F	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
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
R7521:Tmem30b	UTSW	12	73545318	missense	probably benign	0.07
R9054:Tmem30b	UTSW	12	73546149	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- TGGACAGCTCGTAGTAGAGGTACACG -3'
(R):5'- ATGACCCACTCTGAGCCCATCACTTG -3'

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

Posted On

2013-07-30