Mutagenetix > Incidental Mutations

Incidental Mutation 'R5204:Tmem30c'

398380

Institutional Source

Beutler Lab

Gene Symbol

Tmem30c

Ensembl Gene

ENSMUSG00000022753

Gene Name

transmembrane protein 30C

Synonyms

4933409A18Rik, 4933401B01Rik

MMRRC Submission

042779-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5204 (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 57270022 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 274 (N274S)

Ref Sequence

ENSEMBL: ENSMUSP00000113896 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023434
AA Change: N274S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000023434
Gene: ENSMUSG00000022753
AA Change: N274S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119407
AA Change: N274S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112989
Gene: ENSMUSG00000022753
AA Change: N274S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120112
AA Change: N274S

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113896
Gene: ENSMUSG00000022753
AA Change: N274S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231600

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	G	A	13: 63,033,090	V289I	probably benign	Het
Aarsd1	A	T	11: 101,406,926	L532Q	probably damaging	Het
Abt1	G	A	13: 23,422,668	R88C	probably damaging	Het
Arhgef7	T	A	8: 11,800,775	L129*	probably null	Het
Arid1b	T	C	17: 5,343,041	V2282A	probably damaging	Het
Bivm	G	C	1: 44,138,578	G346A	probably damaging	Het
Cav1	T	C	6: 17,339,255	L102P	probably damaging	Het
Ccdc57	A	G	11: 120,886,062	V504A	possibly damaging	Het
Cd7	A	T	11: 121,038,034		probably null	Het
Cdh3	T	C	8: 106,544,239	V508A	probably benign	Het
Chrd	A	T	16: 20,736,072	I413F	probably benign	Het
Clec4b1	T	A	6: 123,071,535	*210R	probably null	Het
Clock	A	T	5: 76,243,170		probably null	Het
Col4a2	T	A	8: 11,398,651		probably null	Het
Gpx7	T	C	4: 108,403,315	T95A	probably benign	Het
Hivep3	T	A	4: 120,103,856		probably null	Het
Hrc	A	G	7: 45,335,704	Y93C	possibly damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Klhl5	G	T	5: 65,131,438	L14F	possibly damaging	Het
Mcm6	A	G	1: 128,333,638	L743P	probably benign	Het
Nrxn1	A	T	17: 90,162,364	F57Y	probably damaging	Het
Olfr609	C	T	7: 103,492,540	V113M	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdh20	G	T	14: 88,468,915	D316E	probably damaging	Het
Pcdhb12	T	A	18: 37,436,089	V96E	probably damaging	Het
Pi4ka	A	T	16: 17,359,045	L346M	possibly damaging	Het
Pkhd1l1	A	C	15: 44,547,041	N2648T	possibly damaging	Het
Rufy1	C	T	11: 50,406,434	R397Q	probably damaging	Het
Sema5a	G	T	15: 32,686,647	M968I	probably benign	Het
Slc33a1	A	G	3: 63,963,746	Y149H	probably damaging	Het
Tln2	T	A	9: 67,354,482	R658S	probably benign	Het
Tor3a	A	G	1: 156,655,700	L384P	probably damaging	Het
Trpm3	T	A	19: 22,448,341	L20*	probably null	Het
Ttn	T	A	2: 76,730,212	I20955F	probably damaging	Het
Usp15	A	T	10: 123,113,640	S908R	probably benign	Het
Zfp866	A	G	8: 69,766,040	L310P	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TGCCATCAGGAATCTGCAC -3'
(R):5'- ACTGGGCCAAACCTATCTATG -3'

Sequencing Primer
(F):5'- TCTTGGGAGGGTTCCAAAATAC -3'
(R):5'- TGGGCCAAACCTATCTATGAACTGG -3'

Posted On

2016-07-06