Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03093:Tmem245'

418458

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem245

Ensembl Gene

ENSMUSG00000055296

Gene Name

transmembrane protein 245

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.443) question?

Stock #

IGL03093

Quality Score

Status

Chromosome

Chromosomal Location

56866923-56947437 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56886019 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 866 (R866W)

Ref Sequence

ENSEMBL: ENSMUSP00000103234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068792] [ENSMUST00000107609] [ENSMUST00000132816]

AlphaFold

B1AZA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000068792
AA Change: R862W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067421
Gene: ENSMUSG00000055296
AA Change: R862W

Domain	Start	End	E-Value	Type
low complexity region	4	25	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC
transmembrane domain	109	131	N/A	INTRINSIC
transmembrane domain	144	166	N/A	INTRINSIC
transmembrane domain	181	203	N/A	INTRINSIC
transmembrane domain	212	231	N/A	INTRINSIC
transmembrane domain	235	252	N/A	INTRINSIC
low complexity region	309	330	N/A	INTRINSIC
transmembrane domain	351	373	N/A	INTRINSIC
transmembrane domain	457	479	N/A	INTRINSIC
Pfam:UPF0118	589	838	1.7e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107609
AA Change: R866W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103234
Gene: ENSMUSG00000055296
AA Change: R866W

Domain	Start	End	E-Value	Type
low complexity region	4	25	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC
transmembrane domain	109	131	N/A	INTRINSIC
transmembrane domain	144	166	N/A	INTRINSIC
transmembrane domain	181	203	N/A	INTRINSIC
transmembrane domain	212	231	N/A	INTRINSIC
transmembrane domain	235	252	N/A	INTRINSIC
low complexity region	309	330	N/A	INTRINSIC
transmembrane domain	351	373	N/A	INTRINSIC
transmembrane domain	449	471	N/A	INTRINSIC
Pfam:UPF0118	585	842	1.1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125082

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132816
AA Change: R457W

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117449
Gene: ENSMUSG00000055296
AA Change: R457W

Domain	Start	End	E-Value	Type
transmembrane domain	52	74	N/A	INTRINSIC
Pfam:UPF0118	182	433	4.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155625

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	A	G	19: 53,231,207	D121G	probably damaging	Het
Cacna1s	A	G	1: 136,116,064	D1380G	probably benign	Het
Clca3a1	T	C	3: 144,747,501	Y487C	probably damaging	Het
Coro2a	A	G	4: 46,544,158	S278P	possibly damaging	Het
Creb3l3	A	G	10: 81,091,213	S128P	probably benign	Het
Dab2	A	G	15: 6,436,411	R697G	probably damaging	Het
Erap1	T	C	13: 74,675,280	F811S	probably benign	Het
Fam170b	A	G	14: 32,835,525	S106G	probably damaging	Het
Galk2	T	C	2: 125,929,643	L196P	probably damaging	Het
Gan	T	C	8: 117,183,575	M81T	probably benign	Het
Gemin2	A	G	12: 59,021,725	T197A	probably benign	Het
Hemgn	A	T	4: 46,396,504	M244K	probably benign	Het
Htr6	A	G	4: 139,061,769	F325S	probably damaging	Het
Igkv9-120	A	G	6: 68,050,414	D104G	probably damaging	Het
Itpr2	A	C	6: 146,379,510	I216S	probably damaging	Het
Lingo1	T	C	9: 56,619,464	I614V	possibly damaging	Het
Mep1b	C	T	18: 21,093,653	T524M	probably benign	Het
Mtif2	A	G	11: 29,530,702		probably benign	Het
Mylk	G	A	16: 34,912,192	R614H	possibly damaging	Het
Olfr601	T	C	7: 103,358,239		probably benign	Het
Olfr706	T	C	7: 106,886,203	T205A	probably benign	Het
Pabpc4	G	A	4: 123,286,709	D75N	probably damaging	Het
Paics	T	A	5: 76,961,508		probably null	Het
Prl	T	A	13: 27,064,887	I172N	probably benign	Het
Ripk2	A	G	4: 16,152,056	S168P	probably damaging	Het
Siglecf	T	C	7: 43,352,441	V225A	probably damaging	Het
Slc36a1	A	G	11: 55,219,604	I86V	probably benign	Het
Slc6a13	A	G	6: 121,332,448	Y306C	probably damaging	Het
Soat2	T	A	15: 102,157,643	L250Q	probably damaging	Het
Tex38	A	G	4: 115,780,565	S14P	probably damaging	Het
Tm2d1	A	T	4: 98,380,684	C59S	possibly damaging	Het
Tmco1	A	G	1: 167,316,279	D82G	probably damaging	Het
Tnip1	G	T	11: 54,940,826	Y7*	probably null	Het
Trp73	A	G	4: 154,104,873	M48T	probably benign	Het
Tslp	T	C	18: 32,815,559		probably benign	Het
Usp47	T	C	7: 112,089,620	F745L	probably damaging	Het
Vmn2r53	T	A	7: 12,600,864	T290S	probably benign	Het
Wdr1	T	C	5: 38,561,129	D30G	probably benign	Het
Zkscan2	T	C	7: 123,494,850	Y247C	probably benign	Het

Other mutations in Tmem245

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02472:Tmem245	APN	4	56899119	missense	probably damaging	1.00
IGL02668:Tmem245	APN	4	56925081	missense	possibly damaging	0.86
Integral	UTSW	4	56899170	missense	possibly damaging	0.79
leibniz	UTSW	4	56916770	missense	probably benign	0.02
R0090:Tmem245	UTSW	4	56899410	missense	probably benign
R0116:Tmem245	UTSW	4	56926213	missense	probably benign	0.00
R0648:Tmem245	UTSW	4	56906270	missense	probably benign	0.38
R0864:Tmem245	UTSW	4	56890837	missense	probably damaging	1.00
R1102:Tmem245	UTSW	4	56903200	intron	probably benign
R1548:Tmem245	UTSW	4	56906233	nonsense	probably null
R1778:Tmem245	UTSW	4	56903968	missense	probably damaging	1.00
R1840:Tmem245	UTSW	4	56903947	missense	probably benign	0.03
R1942:Tmem245	UTSW	4	56923511	unclassified	probably benign
R1969:Tmem245	UTSW	4	56937964	missense	probably benign	0.01
R2341:Tmem245	UTSW	4	56937957	missense	probably damaging	1.00
R2364:Tmem245	UTSW	4	56899391	missense	probably damaging	0.96
R3848:Tmem245	UTSW	4	56926298	unclassified	probably benign
R4591:Tmem245	UTSW	4	56910204	missense	probably damaging	0.99
R4772:Tmem245	UTSW	4	56937989	splice site	probably null
R4779:Tmem245	UTSW	4	56936468	missense	possibly damaging	0.65
R4860:Tmem245	UTSW	4	56899164	missense	probably damaging	1.00
R4860:Tmem245	UTSW	4	56899164	missense	probably damaging	1.00
R5049:Tmem245	UTSW	4	56925057	missense	probably benign	0.12
R5061:Tmem245	UTSW	4	56946945	missense	possibly damaging	0.94
R5199:Tmem245	UTSW	4	56925149	missense	probably benign	0.12
R5377:Tmem245	UTSW	4	56947084	missense	probably damaging	0.99
R5547:Tmem245	UTSW	4	56910156	critical splice donor site	probably null
R5846:Tmem245	UTSW	4	56903241	missense	probably benign	0.00
R5851:Tmem245	UTSW	4	56916770	missense	probably benign	0.02
R5991:Tmem245	UTSW	4	56916733	missense	probably damaging	1.00
R6314:Tmem245	UTSW	4	56888592	missense	possibly damaging	0.88
R6992:Tmem245	UTSW	4	56937940	missense	probably benign	0.03
R7172:Tmem245	UTSW	4	56903946	missense	possibly damaging	0.65
R7632:Tmem245	UTSW	4	56916787	missense	probably benign	0.00
R7660:Tmem245	UTSW	4	56899170	missense	possibly damaging	0.79
R7672:Tmem245	UTSW	4	56947069	missense	probably benign
R7735:Tmem245	UTSW	4	56925155	missense	probably benign	0.22
R7900:Tmem245	UTSW	4	56924973	splice site	probably null
R8280:Tmem245	UTSW	4	56890884	missense	possibly damaging	0.89
R8306:Tmem245	UTSW	4	56886037	missense	probably damaging	0.96
R8446:Tmem245	UTSW	4	56906261	missense	probably benign	0.24
R8447:Tmem245	UTSW	4	56906261	missense	probably benign	0.24
R8491:Tmem245	UTSW	4	56906261	missense	probably benign	0.24
R8524:Tmem245	UTSW	4	56906261	missense	probably benign	0.24
R8750:Tmem245	UTSW	4	56886141	missense	probably damaging	1.00
R8756:Tmem245	UTSW	4	56899025	critical splice donor site	probably null
R8899:Tmem245	UTSW	4	56903916	critical splice donor site	probably null
R9035:Tmem245	UTSW	4	56922384	intron	probably benign
R9267:Tmem245	UTSW	4	56947236	missense	probably benign	0.03
R9292:Tmem245	UTSW	4	56937979	missense	probably benign	0.07
R9292:Tmem245	UTSW	4	56926173	unclassified	probably benign
R9667:Tmem245	UTSW	4	56947119	missense	probably damaging	0.98
Z1189:Tmem245	UTSW	4	56937901	missense	probably benign

Posted On

2016-08-02