Mutagenetix > Incidental Mutation

Incidental Mutation 'RF012:Tmcc2'

603245

Institutional Source

Beutler Lab

Gene Symbol

Tmcc2

Ensembl Gene

ENSMUSG00000042066

Gene Name

transmembrane and coiled-coil domains 2

Synonyms

1110063G11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

RF012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132284053-132319019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 132288756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 310 (N310K)

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: N310K

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

SMART Domains

Protein: ENSMUSP00000038369
Gene: ENSMUSG00000042066
AA Change: N310K

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

probably damaging
Transcript: ENSMUST00000132435
AA Change: N232K

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

SMART Domains

Protein: ENSMUSP00000118844
Gene: ENSMUSG00000042066
AA Change: N232K

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

probably damaging
Transcript: ENSMUST00000142609
AA Change: N75K

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

SMART Domains

Protein: ENSMUSP00000115721
Gene: ENSMUSG00000042066
AA Change: N75K

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

0.6467

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

Validation Efficiency

89% (56/63)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	A	12: 113,453,552 (GRCm39)	L123Q	probably damaging	Het
AI837181	GCG	GCGTCG	19: 5,475,255 (GRCm39)		probably benign	Het
Akr1e1	T	A	13: 4,645,125 (GRCm39)	N242I	probably damaging	Het
Ankrd7	G	C	6: 18,869,274 (GRCm39)	E194Q	possibly damaging	Het
Ano3	A	G	2: 110,527,868 (GRCm39)	F517L	possibly damaging	Het
Arhgef4	CAAA	C	1: 34,763,565 (GRCm39)		probably benign	Het
Arid1a	AGACGACGA	AGACGA	4: 133,480,131 (GRCm39)		probably benign	Het
Atp2c2	G	T	8: 120,472,253 (GRCm39)	A436S	possibly damaging	Het
BC004004	T	A	17: 29,501,782 (GRCm39)	V107E	probably benign	Het
Begain	CGCCGC	CGCCGCAGCCGC	12: 108,999,353 (GRCm39)		probably benign	Het
Cad	GT	G	5: 31,217,556 (GRCm39)		probably benign	Het
Chi3l1	A	T	1: 134,112,909 (GRCm39)	T122S	probably benign	Het
Clic6	A	G	16: 92,327,697 (GRCm39)	S501G	possibly damaging	Het
Col6a3	A	C	1: 90,738,282 (GRCm39)	L1079R	probably damaging	Het
Coro2a	T	C	4: 46,542,336 (GRCm39)	K346E	probably damaging	Het
Ctsf	A	G	19: 4,908,694 (GRCm39)	N325D	probably benign	Het
Dchs2	A	G	3: 83,262,375 (GRCm39)	E2881G	probably benign	Het
Dnah14	A	G	1: 181,455,463 (GRCm39)	T863A	probably damaging	Het
Dnai2	A	T	11: 114,641,242 (GRCm39)	I356F	probably damaging	Het
Dusp4	ACGGCGGCGGCGGC	ACGGCGGCGGC	8: 35,274,953 (GRCm39)		probably benign	Het
Efhb	T	C	17: 53,720,545 (GRCm39)	N647D	probably damaging	Het
Efhd2	CCG	CCGACGGCG	4: 141,602,079 (GRCm39)		probably benign	Het
Eif3i	A	G	4: 129,485,872 (GRCm39)	Y318H	probably damaging	Het
Fbxl5	T	C	5: 43,930,847 (GRCm39)	H80R	probably damaging	Het
Gab3	TCT	TCTGCT	X: 74,043,626 (GRCm39)		probably benign	Het
Gne	G	T	4: 44,060,045 (GRCm39)	A147D	probably damaging	Het
Gpi1	A	T	7: 33,901,902 (GRCm39)	H538Q	probably damaging	Het
Itih2	T	C	2: 10,122,214 (GRCm39)	H229R	possibly damaging	Het
Kdm7a	A	G	6: 39,183,447 (GRCm39)	V41A	probably damaging	Het
Krtap28-10	GCCACA	GCCACACCCACA	1: 83,019,857 (GRCm39)		probably benign	Het
Lipa	A	T	19: 34,486,498 (GRCm39)	S141R	probably damaging	Het
Medag	G	T	5: 149,335,459 (GRCm39)	C6F	probably benign	Het
Nefh	GGCCTCT	GGCCTCTCCTGGGGACTTTGCCTCT	11: 4,891,055 (GRCm39)		probably benign	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,030 (GRCm39)		probably benign	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,891,032 (GRCm39)		probably benign	Het
Opa1	A	G	16: 29,432,784 (GRCm39)	I482M	probably damaging	Het
Or12e14	A	T	2: 87,677,103 (GRCm39)	I163L	probably benign	Het
Pgf	T	C	12: 85,216,316 (GRCm39)		probably null	Het
Pkhd1l1	TTTT	TTTTTTTTTTTATTT	15: 44,421,901 (GRCm39)		probably benign	Het
Pou2f1	G	A	1: 165,740,800 (GRCm39)	T134I	unknown	Het
Pramel32	T	A	4: 88,546,006 (GRCm39)	R445S	probably damaging	Het
Prss52	A	G	14: 64,350,922 (GRCm39)	S236G	probably damaging	Het
Rpsa	A	G	9: 119,960,105 (GRCm39)	T223A	probably benign	Het
Shprh	A	G	10: 11,040,585 (GRCm39)	N686S	probably benign	Het
Six3	CGG	CGGTGG	17: 85,928,796 (GRCm39)		probably benign	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Slc22a27	C	T	19: 7,903,949 (GRCm39)	G63S	probably benign	Het
Tmem144	A	T	3: 79,729,961 (GRCm39)	L263Q	probably damaging	Het
Tpra1	T	C	6: 88,886,324 (GRCm39)	V101A	probably damaging	Het
Troap	T	C	15: 98,973,281 (GRCm39)	S16P	probably benign	Het
Ttn	T	C	2: 76,543,915 (GRCm39)	T33024A	probably benign	Het
Usp2	A	ACATGTGACCTGTTCTTCACTTACT	9: 44,000,427 (GRCm39)		probably benign	Het
Was	CTCCTCCT	C	X: 7,952,470 (GRCm39)		probably null	Het
Zfp672	A	G	11: 58,206,938 (GRCm39)	V461A	probably benign	Het

Other mutations in Tmcc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00816:Tmcc2	APN	1	132,308,436 (GRCm39)	missense	probably benign
IGL01991:Tmcc2	APN	1	132,288,830 (GRCm39)	missense	probably benign	0.25
IGL02259:Tmcc2	APN	1	132,288,898 (GRCm39)	missense	probably benign
IGL02310:Tmcc2	APN	1	132,286,645 (GRCm39)	missense	probably damaging	1.00
IGL02551:Tmcc2	APN	1	132,285,317 (GRCm39)	missense	probably damaging	1.00
IGL03301:Tmcc2	APN	1	132,288,557 (GRCm39)	missense	possibly damaging	0.95
IGL03347:Tmcc2	APN	1	132,285,390 (GRCm39)	missense	probably damaging	1.00
R0131:Tmcc2	UTSW	1	132,308,444 (GRCm39)	missense	probably benign	0.10
R0233:Tmcc2	UTSW	1	132,288,389 (GRCm39)	missense	probably damaging	0.99
R0233:Tmcc2	UTSW	1	132,288,389 (GRCm39)	missense	probably damaging	0.99
R1146:Tmcc2	UTSW	1	132,285,493 (GRCm39)	small deletion	probably benign
R1146:Tmcc2	UTSW	1	132,285,493 (GRCm39)	small deletion	probably benign
R1538:Tmcc2	UTSW	1	132,308,718 (GRCm39)	missense	probably damaging	0.98
R2428:Tmcc2	UTSW	1	132,288,569 (GRCm39)	missense	probably damaging	1.00
R3907:Tmcc2	UTSW	1	132,288,376 (GRCm39)	missense	probably damaging	1.00
R4890:Tmcc2	UTSW	1	132,308,517 (GRCm39)	missense	probably benign	0.43
R5364:Tmcc2	UTSW	1	132,285,534 (GRCm39)	missense	probably damaging	1.00
R5567:Tmcc2	UTSW	1	132,285,543 (GRCm39)	missense	probably benign	0.01
R5596:Tmcc2	UTSW	1	132,288,221 (GRCm39)	missense	probably damaging	1.00
R5916:Tmcc2	UTSW	1	132,285,429 (GRCm39)	missense	probably damaging	0.98
R5931:Tmcc2	UTSW	1	132,285,493 (GRCm39)	small deletion	probably benign
R6278:Tmcc2	UTSW	1	132,286,720 (GRCm39)	missense	probably damaging	0.99
R7404:Tmcc2	UTSW	1	132,288,759 (GRCm39)	missense	probably damaging	0.98
R7806:Tmcc2	UTSW	1	132,288,527 (GRCm39)	missense	probably damaging	1.00
R7848:Tmcc2	UTSW	1	132,288,359 (GRCm39)	missense	probably damaging	1.00
R7903:Tmcc2	UTSW	1	132,288,199 (GRCm39)	missense	probably benign	0.00
R9458:Tmcc2	UTSW	1	132,286,747 (GRCm39)	missense	probably damaging	1.00
X0052:Tmcc2	UTSW	1	132,288,071 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTTGCTGCATATCGCGTAG -3'
(R):5'- CTTGAACTATGCAGAGAACCTAGCC -3'

Sequencing Primer
(F):5'- CACATCCTTGGGCTGCC -3'
(R):5'- AGATCTTGTGGCCCTGAGC -3'

Posted On

2019-12-04