Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02551:Tmcc2'

298117

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02551

Quality Score

Status

Chromosome

Chromosomal Location

132284053-132319019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132285317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 683 (L683P)

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: L683P

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

SMART Domains

Protein: ENSMUSP00000038369
Gene: ENSMUSG00000042066
AA Change: L683P

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

probably damaging
Transcript: ENSMUST00000132435
AA Change: L605P

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

SMART Domains

Protein: ENSMUSP00000118844
Gene: ENSMUSG00000042066
AA Change: L605P

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

probably damaging
Transcript: ENSMUST00000142609
AA Change: L448P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115721
Gene: ENSMUSG00000042066
AA Change: L448P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	G	A	1: 158,796,618 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,975,068 (GRCm39)	I109V	probably benign	Het
Acsm2	C	T	7: 119,172,507 (GRCm39)	P117S	probably damaging	Het
Adamts18	C	A	8: 114,425,704 (GRCm39)	C1186F	probably damaging	Het
Adamts5	A	T	16: 85,666,926 (GRCm39)	V522E	possibly damaging	Het
Adcy10	A	G	1: 165,370,802 (GRCm39)	T694A	probably damaging	Het
Adgra2	G	A	8: 27,609,250 (GRCm39)	V609I	probably benign	Het
Agbl3	A	G	6: 34,800,006 (GRCm39)	K638R	possibly damaging	Het
Alpk2	T	A	18: 65,505,822 (GRCm39)	N66I	probably damaging	Het
Ap3b1	T	A	13: 94,554,599 (GRCm39)	I245N	probably damaging	Het
Aqp9	A	G	9: 71,039,922 (GRCm39)	V120A	probably damaging	Het
Arhgef17	T	C	7: 100,579,553 (GRCm39)	E465G	probably damaging	Het
Btrc	G	T	19: 45,411,573 (GRCm39)	C31F	possibly damaging	Het
Calhm2	G	A	19: 47,121,539 (GRCm39)	S210L	probably damaging	Het
Cnksr3	C	A	10: 7,102,912 (GRCm39)	K153N	probably damaging	Het
Cnr1	T	C	4: 33,943,686 (GRCm39)	S25P	probably benign	Het
Dnajc6	T	A	4: 101,496,550 (GRCm39)	W838R	probably damaging	Het
Fam78a	T	A	2: 31,959,568 (GRCm39)	T181S	probably damaging	Het
Fat1	A	G	8: 45,504,435 (GRCm39)	T4600A	probably damaging	Het
Fbxo31	A	T	8: 122,293,083 (GRCm39)	Y101N	probably damaging	Het
Glmp	A	G	3: 88,232,389 (GRCm39)	M1V	probably null	Het
Gsdmc	T	A	15: 63,673,782 (GRCm39)	T168S	probably benign	Het
Has1	C	T	17: 18,068,560 (GRCm39)	V265I	probably damaging	Het
Hmcn2	A	G	2: 31,344,823 (GRCm39)	D4670G	possibly damaging	Het
Kcnj4	C	T	15: 79,369,103 (GRCm39)	M292I	probably benign	Het
Kmo	A	T	1: 175,465,485 (GRCm39)	S80C	probably damaging	Het
Lrrc8d	C	T	5: 105,961,414 (GRCm39)	T608I	possibly damaging	Het
Mical2	A	T	7: 111,923,197 (GRCm39)	N635I	probably benign	Het
Nags	T	C	11: 102,038,767 (GRCm39)	S403P	probably damaging	Het
Nalcn	T	A	14: 123,560,750 (GRCm39)	I776F	probably benign	Het
Ncan	A	T	8: 70,555,112 (GRCm39)	N1018K	probably damaging	Het
Notch3	T	A	17: 32,373,705 (GRCm39)		probably benign	Het
Nup93	C	T	8: 94,954,461 (GRCm39)	Q53*	probably null	Het
Pdk2	T	A	11: 94,919,412 (GRCm39)	M288L	probably benign	Het
Pkd1	A	G	17: 24,792,789 (GRCm39)	Y1492C	probably damaging	Het
Pla2g12b	T	A	10: 59,239,692 (GRCm39)	W34R	probably damaging	Het
Pla2g6	T	A	15: 79,183,294 (GRCm39)	D511V	possibly damaging	Het
Plin2	C	A	4: 86,576,929 (GRCm39)	M265I	probably benign	Het
Ppp6c	A	T	2: 39,096,669 (GRCm39)	F78I	probably damaging	Het
Prop1	A	T	11: 50,841,773 (GRCm39)	M211K	possibly damaging	Het
Prr14l	T	A	5: 32,988,828 (GRCm39)	E222D	probably damaging	Het
Rtkn	A	T	6: 83,128,905 (GRCm39)	I454F	probably damaging	Het
Serinc2	T	C	4: 130,154,567 (GRCm39)	I226V	probably benign	Het
Sh3bp1	T	A	15: 78,788,538 (GRCm39)	H229Q	probably benign	Het
Slc13a3	G	T	2: 165,266,493 (GRCm39)	F348L	probably damaging	Het
Slc6a15	T	A	10: 103,240,136 (GRCm39)		probably benign	Het
Spg7	G	A	8: 123,803,717 (GRCm39)	G249E	probably damaging	Het
Tbc1d2	T	C	4: 46,649,916 (GRCm39)	D40G	probably benign	Het
Triobp	T	C	15: 78,857,689 (GRCm39)	S1097P	probably benign	Het
Tspan9	T	C	6: 127,942,726 (GRCm39)	D167G	probably null	Het
Ttll6	T	C	11: 96,045,526 (GRCm39)	I581T	probably benign	Het
Usp29	A	G	7: 6,966,352 (GRCm39)		probably null	Het
Vgll4	A	G	6: 114,839,254 (GRCm39)	W246R	probably damaging	Het
Vmn2r26	T	C	6: 124,003,100 (GRCm39)	V170A	probably benign	Het
Vmn2r62	T	C	7: 42,437,930 (GRCm39)	T185A	probably benign	Het
Vwce	A	G	19: 10,622,400 (GRCm39)	H234R	possibly damaging	Het
Zfp292	T	C	4: 34,806,462 (GRCm39)	E2194G	possibly damaging	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
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
RF012:Tmcc2	UTSW	1	132,288,756 (GRCm39)	missense	probably damaging	1.00
X0052:Tmcc2	UTSW	1	132,288,071 (GRCm39)	missense	probably benign

Posted On

2015-04-16