Mutagenetix > Incidental Mutation

Incidental Mutation 'R5596:Tmcc2'

437808

Institutional Source

Beutler Lab

Gene Symbol

Tmcc2

Ensembl Gene

ENSMUSG00000042066

Gene Name

transmembrane and coiled-coil domains 2

Synonyms

1110063G11Rik

MMRRC Submission

043148-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R5596 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

132356315-132391281 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132360483 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 489 (N489D)

Ref Sequence

ENSEMBL: ENSMUSP00000038369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045473] [ENSMUST00000132435] [ENSMUST00000142609]

AlphaFold

Q80W04

Predicted Effect

probably damaging
Transcript: ENSMUST00000045473
AA Change: N489D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038369
Gene: ENSMUSG00000042066
AA Change: N489D

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
low complexity region	89	99	N/A	INTRINSIC
low complexity region	100	112	N/A	INTRINSIC
low complexity region	164	183	N/A	INTRINSIC
low complexity region	253	267	N/A	INTRINSIC
Pfam:Tmemb_cc2	283	694	6.3e-178	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125439

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132435
AA Change: N411D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118844
Gene: ENSMUSG00000042066
AA Change: N411D

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
low complexity region	22	34	N/A	INTRINSIC
low complexity region	86	105	N/A	INTRINSIC
low complexity region	175	189	N/A	INTRINSIC
Pfam:Tmemb_cc2	203	617	1.1e-193	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138717

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142609
AA Change: N254D

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115721
Gene: ENSMUSG00000042066
AA Change: N254D

Domain	Start	End	E-Value	Type
low complexity region	18	32	N/A	INTRINSIC
Pfam:Tmemb_cc2	46	460	2.2e-194	PFAM

Meta Mutation Damage Score

0.1380

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.9%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 120,401,749	M1503V	possibly damaging	Het
Abraxas1	A	T	5: 100,818,537	V53D	probably damaging	Het
Bub1b	T	C	2: 118,630,982	S672P	probably damaging	Het
C1qtnf7	A	T	5: 43,515,970		probably benign	Het
C87499	C	T	4: 88,630,055	E38K	probably damaging	Het
Cacng7	A	T	7: 3,366,904	I262F	probably benign	Het
Capzb	T	G	4: 139,279,427		probably benign	Het
Ccdc149	A	G	5: 52,404,151	V229A	probably damaging	Het
Cfap69	A	G	5: 5,626,020	L225P	probably damaging	Het
Cftr	A	G	6: 18,268,096	T685A	probably benign	Het
Col12a1	G	A	9: 79,703,759	T177M	probably damaging	Het
Creb3l3	T	G	10: 81,085,047	D383A	probably benign	Het
Cyp2j8	T	A	4: 96,507,341	I16F	probably benign	Het
Dnah5	G	T	15: 28,343,608	A2385S	probably damaging	Het
Enox1	A	G	14: 77,579,053	I158V	probably benign	Het
Erich3	A	T	3: 154,727,396	T139S	probably damaging	Het
Fam186b	A	T	15: 99,271,289	S926T	possibly damaging	Het
Gjd2	C	A	2: 114,011,484	V171F	possibly damaging	Het
Gm13088	T	A	4: 143,654,455	T333S	probably damaging	Het
Helz2	A	T	2: 181,237,289		probably benign	Het
Herc1	T	TTN	9: 66,434,063		probably benign	Het
Impg1	A	T	9: 80,345,218	V483E	probably benign	Het
Irx4	A	G	13: 73,267,680	N196S	probably damaging	Het
Kcnip1	T	C	11: 33,630,597	D213G	probably damaging	Het
Lmntd1	T	A	6: 145,413,414	T191S	probably benign	Het
Med12l	T	A	3: 59,252,350	N1273K	probably benign	Het
Musk	T	C	4: 58,373,036	C654R	probably damaging	Het
Nlrp4d	A	T	7: 10,382,024	S274T	noncoding transcript	Het
Omd	A	G	13: 49,592,338	H408R	probably benign	Het
Pbld2	C	T	10: 63,072,012	A219V	probably damaging	Het
Ptpn1	T	C	2: 167,974,763	I246T	probably damaging	Het
Sap18b	G	T	8: 95,825,370	A3S	unknown	Het
Sptbn5	G	A	2: 120,046,484		probably benign	Het
Sstr4	G	T	2: 148,395,732	V88F	possibly damaging	Het
Tdpoz4	A	T	3: 93,797,499	T368S	probably benign	Het
Tnfrsf9	T	C	4: 150,929,874	V10A	probably benign	Het
Tnxb	T	A	17: 34,688,804	V1274E	probably damaging	Het
Ube3b	T	A	5: 114,406,160		probably null	Het
Vwa5a	A	T	9: 38,722,578	I26F	probably damaging	Het

Other mutations in Tmcc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00816:Tmcc2	APN	1	132380698	missense	probably benign
IGL01991:Tmcc2	APN	1	132361092	missense	probably benign	0.25
IGL02259:Tmcc2	APN	1	132361160	missense	probably benign
IGL02310:Tmcc2	APN	1	132358907	missense	probably damaging	1.00
IGL02551:Tmcc2	APN	1	132357579	missense	probably damaging	1.00
IGL03301:Tmcc2	APN	1	132360819	missense	possibly damaging	0.95
IGL03347:Tmcc2	APN	1	132357652	missense	probably damaging	1.00
R0131:Tmcc2	UTSW	1	132380706	missense	probably benign	0.10
R0233:Tmcc2	UTSW	1	132360651	missense	probably damaging	0.99
R0233:Tmcc2	UTSW	1	132360651	missense	probably damaging	0.99
R1146:Tmcc2	UTSW	1	132357755	small deletion	probably benign
R1146:Tmcc2	UTSW	1	132357755	small deletion	probably benign
R1538:Tmcc2	UTSW	1	132380980	missense	probably damaging	0.98
R2428:Tmcc2	UTSW	1	132360831	missense	probably damaging	1.00
R3907:Tmcc2	UTSW	1	132360638	missense	probably damaging	1.00
R4890:Tmcc2	UTSW	1	132380779	missense	probably benign	0.43
R5364:Tmcc2	UTSW	1	132357796	missense	probably damaging	1.00
R5567:Tmcc2	UTSW	1	132357805	missense	probably benign	0.01
R5916:Tmcc2	UTSW	1	132357691	missense	probably damaging	0.98
R5931:Tmcc2	UTSW	1	132357755	small deletion	probably benign
R6278:Tmcc2	UTSW	1	132358982	missense	probably damaging	0.99
R7404:Tmcc2	UTSW	1	132361021	missense	probably damaging	0.98
R7806:Tmcc2	UTSW	1	132360789	missense	probably damaging	1.00
R7848:Tmcc2	UTSW	1	132360621	missense	probably damaging	1.00
R7903:Tmcc2	UTSW	1	132360461	missense	probably benign	0.00
R9458:Tmcc2	UTSW	1	132359009	missense	probably damaging	1.00
RF012:Tmcc2	UTSW	1	132361018	missense	probably damaging	1.00
X0052:Tmcc2	UTSW	1	132360333	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTGTGAAGCCAGGAGGTAC -3'
(R):5'- TCATTCGCAACAAGTTCGGC -3'

Sequencing Primer
(F):5'- AGCGCTCTTCTTGCAGG -3'
(R):5'- AACAAGTTCGGCAGTGCC -3'

Posted On

2016-10-26