Mutagenetix > Incidental Mutation

Incidental Mutation 'R2021:Tmem30c'

224041

Institutional Source

Beutler Lab

Gene Symbol

Tmem30c

Ensembl Gene

ENSMUSG00000022753

Gene Name

transmembrane protein 30C

Synonyms

4933409A18Rik, 4933401B01Rik

MMRRC Submission

040030-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R2021 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57266139-57292865 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57281362 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 68 (T68A)

Ref Sequence

ENSEMBL: ENSMUSP00000112989 (fasta)

Gene Model

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

AlphaFold

Q9D4D7

Predicted Effect

probably damaging
Transcript: ENSMUST00000023434
AA Change: T68A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023434
Gene: ENSMUSG00000022753
AA Change: T68A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119407
AA Change: T68A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112989
Gene: ENSMUSG00000022753
AA Change: T68A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120112
AA Change: T68A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113896
Gene: ENSMUSG00000022753
AA Change: T68A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180871

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,931,451	S462P	probably damaging	Het
Ablim1	A	T	19: 57,047,018	S316T	probably damaging	Het
Alox8	C	T	11: 69,186,288	V460I	probably damaging	Het
Arvcf	G	A	16: 18,399,732	A491T	probably damaging	Het
Asnsd1	A	G	1: 53,347,227	S414P	possibly damaging	Het
Btbd7	A	G	12: 102,790,709	L706P	probably damaging	Het
Camk2d	T	A	3: 126,780,456	W171R	probably damaging	Het
Casc3	T	A	11: 98,821,506	S124T	probably benign	Het
Casp8ap2	T	C	4: 32,644,560	V1211A	probably benign	Het
Ccdc182	T	C	11: 88,294,136	V14A	possibly damaging	Het
Ccdc80	A	T	16: 45,122,912	Q795L	probably damaging	Het
Ccdc88a	T	G	11: 29,503,480	S1614R	probably damaging	Het
Clcn6	A	G	4: 148,010,652		probably null	Het
Cubn	A	G	2: 13,308,549	V3070A	probably benign	Het
Dst	G	A	1: 34,166,291	V1025I	possibly damaging	Het
Dusp27	A	T	1: 166,100,823	W407R	probably benign	Het
Elk3	T	A	10: 93,265,677	I71F	probably damaging	Het
Flt3	A	T	5: 147,369,490	I276N	probably damaging	Het
Frem1	G	T	4: 82,913,558	T1988K	probably benign	Het
Gm597	A	T	1: 28,778,153	V266D	probably damaging	Het
Golph3l	T	A	3: 95,617,357	D306E	probably benign	Het
Grk2	T	A	19: 4,290,670	I254F	probably damaging	Het
Hgf	C	T	5: 16,576,921	T214I	probably benign	Het
Hoxc5	C	A	15: 103,014,382		probably null	Het
Hsd11b1	T	C	1: 193,240,378	T124A	probably benign	Het
Ipp	A	G	4: 116,515,368	Y198C	probably benign	Het
Ism1	T	A	2: 139,740,127		probably null	Het
Klhl42	A	G	6: 147,091,896	Y122C	possibly damaging	Het
Klk1b21	A	T	7: 44,105,994	K206*	probably null	Het
Lcn11	A	G	2: 25,778,085	K85R	probably benign	Het
Macf1	G	T	4: 123,472,730	A2746E	probably damaging	Het
Matn4	A	G	2: 164,400,653	V175A	probably damaging	Het
Myh2	A	T	11: 67,191,719	N1372Y	probably damaging	Het
Ncl	A	G	1: 86,356,955		probably null	Het
Nudt2	A	G	4: 41,480,255	D46G	probably damaging	Het
Obscn	C	T	11: 59,067,174	D3567N	probably benign	Het
Olfr1245	A	T	2: 89,574,961	M255K	possibly damaging	Het
Olfr346	G	C	2: 36,688,475	V158L	probably benign	Het
Olfr373	G	T	8: 72,100,086	V109F	possibly damaging	Het
Pamr1	T	A	2: 102,634,535	M343K	probably benign	Het
Pcdh15	T	G	10: 74,631,193	S1684A	possibly damaging	Het
Ppm1h	T	A	10: 122,878,528	L324*	probably null	Het
Ppp3r2	T	C	4: 49,681,723	I76V	probably benign	Het
Prkdc	G	A	16: 15,677,009	V748I	probably benign	Het
Prss47	A	G	13: 65,051,777	V96A	probably benign	Het
Rsbn1	C	T	3: 103,914,473	T8I	probably benign	Het
Rsf1	GGCG	GGCGACGGCGGCG	7: 97,579,906		probably benign	Het
Serpinb3d	A	G	1: 107,078,452	V302A	probably benign	Het
Sfrp4	A	T	13: 19,632,326	I177F	probably benign	Het
Sh3bp2	A	G	5: 34,544,225		probably benign	Het
Slc7a12	A	G	3: 14,497,333	T257A	probably damaging	Het
Specc1l	T	C	10: 75,267,591		probably null	Het
Stard9	A	G	2: 120,704,235	T3658A	probably benign	Het
Tctex1d4	A	G	4: 117,128,307	E109G	possibly damaging	Het
Tmem2	G	A	19: 21,844,750	A1170T	possibly damaging	Het
Tnr	A	G	1: 159,852,022	I189V	probably benign	Het
Trrap	A	G	5: 144,853,488	N3586S	possibly damaging	Het
Usp14	T	C	18: 10,024,632	T22A	probably damaging	Het
Vmn1r68	A	G	7: 10,527,991	L60P	probably damaging	Het
Vmn2r108	G	A	17: 20,470,990	H424Y	probably benign	Het
Wdr81	C	A	11: 75,445,962	E1534*	probably null	Het
Zc3h13	A	G	14: 75,330,195	E976G	probably damaging	Het
Zfp128	T	C	7: 12,890,029	L108P	possibly damaging	Het
Zfp644	T	C	5: 106,635,682	I1000V	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
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
R6133:Tmem30c	UTSW	16	57277737	missense	probably damaging	1.00
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
R8236:Tmem30c	UTSW	16	57276179	missense	probably null	1.00
R8693:Tmem30c	UTSW	16	57266492	missense	probably damaging	1.00
R8794:Tmem30c	UTSW	16	57270190	missense	probably benign	0.00
R9140:Tmem30c	UTSW	16	57270119	missense	probably damaging	0.99
R9629:Tmem30c	UTSW	16	57276222	missense	probably benign	0.03
R9682:Tmem30c	UTSW	16	57290817	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGATGGAAAATGCAAACCCAGC -3'
(R):5'- GCCACAGACACATGGAGTTC -3'

Sequencing Primer
(F):5'- TGCAAACCCAGCATGGAG -3'
(R):5'- AGACTGTGAGAAGGCTTCCTC -3'

Posted On

2014-08-25