Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02731:Tcte1'

305458

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcte1

Ensembl Gene

ENSMUSG00000023949

Gene Name

t-complex-associated testis expressed 1

Synonyms

D17Sil1, Tcte-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02731

Quality Score

Status

Chromosome

Chromosomal Location

45834360-45853605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45850812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 363 (V363I)

Ref Sequence

ENSEMBL: ENSMUSP00000109175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113547] [ENSMUST00000180252]

AlphaFold

A6H639

Predicted Effect

probably benign
Transcript: ENSMUST00000113547
AA Change: V363I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109175
Gene: ENSMUSG00000023949
AA Change: V363I

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
low complexity region	28	47	N/A	INTRINSIC
low complexity region	206	222	N/A	INTRINSIC
Blast:LRR	235	274	7e-14	BLAST
LRR	304	331	5.02e-6	SMART
LRR	332	358	1.28e-3	SMART
LRR	359	386	5.81e-2	SMART
LRR	387	414	2.05e-2	SMART
LRR	415	442	1.13e-4	SMART
Blast:LRR	443	470	3e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000180252

SMART Domains

Protein: ENSMUSP00000136337
Gene: ENSMUSG00000096847

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
Pfam:TMEM151	40	486	2e-213	PFAM
low complexity region	511	518	N/A	INTRINSIC
low complexity region	542	556	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap10	A	T	11: 61,784,302 (GRCm39)	D515E	possibly damaging	Het
Ankrd13b	A	T	11: 77,367,045 (GRCm39)	S9R	probably damaging	Het
Ano9	G	A	7: 140,687,117 (GRCm39)	A374V	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cep78	T	A	19: 15,933,670 (GRCm39)	H636L	probably benign	Het
Chd2	A	G	7: 73,143,204 (GRCm39)	V563A	probably damaging	Het
Cndp1	G	T	18: 84,650,083 (GRCm39)	D203E	probably damaging	Het
Col16a1	G	A	4: 129,947,323 (GRCm39)		probably benign	Het
Copa	T	C	1: 171,929,785 (GRCm39)	V284A	possibly damaging	Het
Dlec1	A	G	9: 118,976,188 (GRCm39)	T1656A	probably benign	Het
Dop1a	T	C	9: 86,369,434 (GRCm39)	I89T	probably damaging	Het
Eif2ak4	T	C	2: 118,219,295 (GRCm39)	S36P	probably benign	Het
Ep300	A	T	15: 81,532,615 (GRCm39)	I1618F	unknown	Het
Fan1	G	A	7: 64,022,741 (GRCm39)	L171F	possibly damaging	Het
Fancm	A	G	12: 65,135,079 (GRCm39)	T291A	probably benign	Het
Gm14325	T	C	2: 177,474,779 (GRCm39)	K101R	probably damaging	Het
Hmx3	A	T	7: 131,145,692 (GRCm39)		probably null	Het
Htt	G	T	5: 34,961,137 (GRCm39)	V255L	probably benign	Het
L3mbtl3	C	T	10: 26,220,074 (GRCm39)		probably null	Het
Lmbr1l	A	G	15: 98,815,777 (GRCm39)	L9P	probably damaging	Het
Lyzl6	A	T	11: 103,525,903 (GRCm39)	Y72*	probably null	Het
Mib1	A	G	18: 10,800,115 (GRCm39)	E818G	possibly damaging	Het
Neb	T	C	2: 52,050,715 (GRCm39)	T6405A	probably damaging	Het
Npas3	A	G	12: 54,114,578 (GRCm39)	D482G	probably benign	Het
Nuak2	C	A	1: 132,244,095 (GRCm39)	A43E	probably damaging	Het
Or10ag2	G	A	2: 87,249,051 (GRCm39)	V220I	probably benign	Het
Or4a70	T	C	2: 89,323,801 (GRCm39)	Y285C	probably damaging	Het
Or4f4b	A	T	2: 111,313,873 (GRCm39)	I33L	probably benign	Het
Or5an1	T	C	19: 12,261,206 (GRCm39)	S265P	probably damaging	Het
Pde11a	C	A	2: 75,821,583 (GRCm39)	A899S	probably benign	Het
Ppfibp2	A	T	7: 107,345,629 (GRCm39)	I884F	possibly damaging	Het
Pus7l	A	G	15: 94,421,345 (GRCm39)	V655A	probably benign	Het
Rad51ap2	A	G	12: 11,506,897 (GRCm39)	D273G	probably damaging	Het
Rc3h2	T	C	2: 37,272,823 (GRCm39)	D751G	probably benign	Het
Sdk1	C	T	5: 142,158,299 (GRCm39)	A1863V	probably damaging	Het
Spns3	T	C	11: 72,420,403 (GRCm39)	Y361C	probably damaging	Het
Srp72	T	A	5: 77,142,062 (GRCm39)	I372N	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tcf20	A	G	15: 82,737,438 (GRCm39)	S1338P	probably benign	Het
Vmn1r42	T	C	6: 89,822,407 (GRCm39)	K54R	probably benign	Het
Vps13b	A	G	15: 35,917,274 (GRCm39)	N3706S	probably benign	Het
Vwde	T	C	6: 13,192,613 (GRCm39)	Y430C	probably damaging	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	Het
Zfp959	G	A	17: 56,202,956 (GRCm39)		probably benign	Het

Other mutations in Tcte1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Tcte1	APN	17	45,845,854 (GRCm39)	missense	probably damaging	1.00
IGL00945:Tcte1	APN	17	45,852,115 (GRCm39)	missense	probably benign	0.15
IGL01120:Tcte1	APN	17	45,850,594 (GRCm39)	missense	probably damaging	0.99
IGL01132:Tcte1	APN	17	45,850,788 (GRCm39)	missense	possibly damaging	0.93
IGL01884:Tcte1	APN	17	45,850,735 (GRCm39)	splice site	probably null
IGL02418:Tcte1	APN	17	45,852,128 (GRCm39)	missense	probably benign	0.37
IGL03130:Tcte1	APN	17	45,844,222 (GRCm39)	missense	probably damaging	1.00
R0358:Tcte1	UTSW	17	45,846,211 (GRCm39)	missense	probably benign	0.34
R1519:Tcte1	UTSW	17	45,846,178 (GRCm39)	missense	probably damaging	1.00
R2013:Tcte1	UTSW	17	45,852,237 (GRCm39)	missense	probably benign	0.30
R2014:Tcte1	UTSW	17	45,852,237 (GRCm39)	missense	probably benign	0.30
R3744:Tcte1	UTSW	17	45,850,597 (GRCm39)	missense	probably damaging	0.99
R4250:Tcte1	UTSW	17	45,850,617 (GRCm39)	missense	probably benign	0.04
R4976:Tcte1	UTSW	17	45,845,854 (GRCm39)	missense	probably damaging	1.00
R5398:Tcte1	UTSW	17	45,850,752 (GRCm39)	nonsense	probably null
R6169:Tcte1	UTSW	17	45,845,996 (GRCm39)	missense	probably benign	0.01
R6251:Tcte1	UTSW	17	45,846,085 (GRCm39)	missense	probably benign
R6279:Tcte1	UTSW	17	45,844,215 (GRCm39)	missense	possibly damaging	0.69
R6300:Tcte1	UTSW	17	45,844,215 (GRCm39)	missense	possibly damaging	0.69
R6316:Tcte1	UTSW	17	45,845,786 (GRCm39)	missense	probably benign
R6417:Tcte1	UTSW	17	45,846,056 (GRCm39)	missense	probably damaging	0.97
R6892:Tcte1	UTSW	17	45,844,083 (GRCm39)	missense	probably benign
R7047:Tcte1	UTSW	17	45,844,294 (GRCm39)	missense	possibly damaging	0.52
R7645:Tcte1	UTSW	17	45,845,915 (GRCm39)	missense	probably benign	0.00
R8125:Tcte1	UTSW	17	45,850,618 (GRCm39)	missense	possibly damaging	0.88
R9710:Tcte1	UTSW	17	45,850,798 (GRCm39)	missense	possibly damaging	0.94
Z1176:Tcte1	UTSW	17	45,845,997 (GRCm39)	missense	probably benign
Z1177:Tcte1	UTSW	17	45,845,938 (GRCm39)	missense	possibly damaging	0.93

Posted On

2015-04-16