Mutagenetix > Incidental Mutations

Incidental Mutation 'R6133:Tmem30c'

487252

Institutional Source

Beutler Lab

Gene Symbol

Tmem30c

Ensembl Gene

ENSMUSG00000022753

Gene Name

transmembrane protein 30C

Synonyms

4933409A18Rik, 4933401B01Rik

MMRRC Submission

044280-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R6133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57266139-57292865 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57277737 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 107 (Y107C)

Ref Sequence

ENSEMBL: ENSMUSP00000113896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023434] [ENSMUST00000119407] [ENSMUST00000120112]

Predicted Effect

probably damaging
Transcript: ENSMUST00000023434
AA Change: Y107C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023434
Gene: ENSMUSG00000022753
AA Change: Y107C

Domain	Start	End	E-Value	Type
Pfam:CDC50	54	339	2.7e-84	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119407
AA Change: Y107C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112989
Gene: ENSMUSG00000022753
AA Change: Y107C

Domain	Start	End	E-Value	Type
Pfam:CDC50	53	340	2.6e-89	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120112
AA Change: Y107C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113896
Gene: ENSMUSG00000022753
AA Change: Y107C

Domain	Start	End	E-Value	Type
Pfam:CDC50	53	283	9.9e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180871

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	A	G	8: 88,325,439	T912A	possibly damaging	Het
Akap12	G	T	10: 4,355,178	G663C	probably benign	Het
Akap2	C	T	4: 57,855,516	Q525*	probably null	Het
Ankhd1	T	C	18: 36,625,126	S958P	possibly damaging	Het
Cmtm2a	T	C	8: 104,292,730	I76V	probably benign	Het
Cpxm2	G	A	7: 132,128,453	P146S	probably damaging	Het
Cubn	A	G	2: 13,308,618	V3047A	probably benign	Het
Dgkd	T	A	1: 87,938,240	V198E	possibly damaging	Het
Dnah3	A	T	7: 120,086,246	M181K	probably benign	Het
Dnah7a	T	C	1: 53,419,655	T3775A	probably benign	Het
Dsg2	A	G	18: 20,590,089	I391V	probably benign	Het
Ebi3	T	A	17: 55,954,311	V69E	probably benign	Het
Fn1	T	C	1: 71,597,727	T1998A	probably damaging	Het
Frmpd1	T	A	4: 45,284,915	H1245Q	probably benign	Het
Gm7145	T	A	1: 117,985,888	C167S	probably damaging	Het
Hydin	C	T	8: 110,601,276	T4805I	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kcnma1	C	T	14: 24,003,868	M21I	probably damaging	Het
Lrfn5	A	G	12: 61,843,788	D621G	probably benign	Het
Lrrc15	C	T	16: 30,274,236	G95D	probably benign	Het
Mex3d	A	G	10: 80,386,786	L212P	probably damaging	Het
Mmel1	C	T	4: 154,895,018	H728Y	probably damaging	Het
Naip1	A	G	13: 100,444,643	V32A	probably benign	Het
Nsl1	T	C	1: 191,071,206	L158P	probably damaging	Het
Olfr638	A	T	7: 104,003,325	T17S	possibly damaging	Het
Olfr771	G	A	10: 129,160,883	L34F	possibly damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Pcdh15	A	T	10: 74,645,973		probably null	Het
Pramef20	T	C	4: 144,377,777	R53G	possibly damaging	Het
Ptpn1	T	C	2: 167,967,796	V108A	possibly damaging	Het
Rad9b	T	C	5: 122,339,768	N182D	possibly damaging	Het
Rp1l1	C	T	14: 64,030,096	P1044S	probably damaging	Het
Scn2a	G	A	2: 65,743,104	V1433I	probably benign	Het
Ssrp1	T	G	2: 85,045,339		probably benign	Het
Suco	T	A	1: 161,835,183	K560*	probably null	Het
Tbx3	T	C	5: 119,680,953	V531A	probably benign	Het
Topbp1	T	A	9: 103,311,764		probably null	Het
Trpm5	A	T	7: 143,088,951	D86E	probably damaging	Het
Urb2	C	T	8: 124,028,561	Q336*	probably null	Het
Vmn2r43	A	G	7: 8,244,971	F731S	probably damaging	Het
Xkr9	A	G	1: 13,684,135	T118A	probably benign	Het
Zcchc2	A	C	1: 106,019,879	K117N	probably damaging	Het
Zfp52	T	C	17: 21,560,471	Y194H	probably damaging	Het
Zfp763	C	T	17: 33,018,701	C490Y	possibly damaging	Het
Zmynd19	G	T	2: 24,958,119	R148L	possibly damaging	Het

Other mutations in Tmem30c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Tmem30c	APN	16	57270074	missense	probably damaging	1.00
IGL01115:Tmem30c	APN	16	57276117	splice site	probably benign
IGL01574:Tmem30c	APN	16	57276742	missense	possibly damaging	0.60
IGL02060:Tmem30c	APN	16	57290898	missense	probably benign
IGL03243:Tmem30c	APN	16	57276150	missense	probably benign	0.00
R0689:Tmem30c	UTSW	16	57270173	missense	probably damaging	1.00
R0699:Tmem30c	UTSW	16	57276789	missense	possibly damaging	0.69
R0763:Tmem30c	UTSW	16	57270176	missense	possibly damaging	0.90
R1353:Tmem30c	UTSW	16	57277665	missense	probably damaging	1.00
R1518:Tmem30c	UTSW	16	57266492	missense	probably damaging	0.99
R1707:Tmem30c	UTSW	16	57266480	missense	possibly damaging	0.79
R1843:Tmem30c	UTSW	16	57276780	missense	probably benign	0.02
R1865:Tmem30c	UTSW	16	57269989	splice site	probably benign
R2021:Tmem30c	UTSW	16	57281362	missense	probably damaging	1.00
R3419:Tmem30c	UTSW	16	57277668	missense	probably benign	0.25
R5007:Tmem30c	UTSW	16	57266505	missense	probably benign	0.00
R5204:Tmem30c	UTSW	16	57270022	missense	possibly damaging	0.89
R5626:Tmem30c	UTSW	16	57276143	missense	possibly damaging	0.74
R5863:Tmem30c	UTSW	16	57270055	missense	probably benign	0.02
R5869:Tmem30c	UTSW	16	57266562	missense	probably damaging	0.99
R6359:Tmem30c	UTSW	16	57276150	missense	probably benign	0.00
R6813:Tmem30c	UTSW	16	57281259	critical splice donor site	probably null
R7268:Tmem30c	UTSW	16	57266414	missense	probably damaging	0.98
R7387:Tmem30c	UTSW	16	57270023	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ACTTAGATGCTGAGGCCCAC -3'
(R):5'- TGAATGTATTGAAACCACACAGCC -3'

Sequencing Primer
(F):5'- ACCCCATGCCTGTCTTTTAGATGG -3'
(R):5'- GCTACTCAGAGAGATGCTGTC -3'

Posted On

2017-10-10