Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01120:Tcte1'

53086

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 #

IGL01120

Quality Score

Status

Chromosome

Chromosomal Location

45834360-45853605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45850594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 290 (D290V)

Ref Sequence

ENSEMBL: ENSMUSP00000109175 (fasta)

Gene Model

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

AlphaFold

A6H639

Predicted Effect

probably damaging
Transcript: ENSMUST00000113547
AA Change: D290V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109175
Gene: ENSMUSG00000023949
AA Change: D290V

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	T	A	5: 135,040,329 (GRCm39)		probably null	Het
Armcx5	T	C	X: 134,647,112 (GRCm39)	I396T	probably damaging	Het
Atm	T	C	9: 53,372,422 (GRCm39)		probably null	Het
Atp6v1c2	C	T	12: 17,358,294 (GRCm39)	E88K	probably damaging	Het
Caskin1	A	G	17: 24,724,343 (GRCm39)	T1044A	possibly damaging	Het
Cyp3a59	T	A	5: 146,039,671 (GRCm39)	S315T	probably damaging	Het
Dnaja1	T	A	4: 40,730,248 (GRCm39)	I240N	probably damaging	Het
Dnttip2	C	T	3: 122,072,386 (GRCm39)		probably benign	Het
Elavl2	A	T	4: 91,152,309 (GRCm39)	M136K	probably damaging	Het
Eml5	C	T	12: 98,810,278 (GRCm39)	V893I	probably benign	Het
Fbxw4	G	T	19: 45,628,955 (GRCm39)	A2E	probably benign	Het
Flg2	T	G	3: 93,108,475 (GRCm39)	S168A	probably damaging	Het
Fndc3a	G	A	14: 72,794,102 (GRCm39)	T857I	probably benign	Het
Gria1	A	G	11: 57,208,495 (GRCm39)	K797E	probably damaging	Het
Herc1	T	C	9: 66,336,162 (GRCm39)	F1569S	probably benign	Het
Kash5	G	T	7: 44,833,622 (GRCm39)	S560Y	probably damaging	Het
Lrrc45	T	C	11: 120,610,836 (GRCm39)	V524A	probably benign	Het
Myo19	T	C	11: 84,798,104 (GRCm39)	L708P	probably damaging	Het
Nup107	A	G	10: 117,606,146 (GRCm39)		probably benign	Het
Or10ab4	T	G	7: 107,654,774 (GRCm39)	M195R	probably damaging	Het
Or52h9	T	C	7: 104,202,552 (GRCm39)	V142A	probably benign	Het
Palm	A	G	10: 79,652,621 (GRCm39)		probably benign	Het
Phf14	T	C	6: 11,962,739 (GRCm39)	V462A	probably damaging	Het
Pkhd1l1	G	A	15: 44,368,708 (GRCm39)		probably null	Het
Pkp3	T	A	7: 140,664,095 (GRCm39)	L424*	probably null	Het
Prss29	A	G	17: 25,541,107 (GRCm39)	K184E	probably benign	Het
Prss3b	A	T	6: 41,008,607 (GRCm39)	Y236N	probably damaging	Het
Ptcd1	C	T	5: 145,089,053 (GRCm39)		probably benign	Het
Pth1r	T	C	9: 110,556,198 (GRCm39)	H225R	probably damaging	Het
Rffl	C	T	11: 82,696,848 (GRCm39)	V332I	probably damaging	Het
Rsl1	T	C	13: 67,325,230 (GRCm39)		probably benign	Het
Scart2	T	C	7: 139,876,472 (GRCm39)	L648P	probably benign	Het
Scn9a	T	C	2: 66,357,316 (GRCm39)	K986R	probably benign	Het
Slc22a15	A	G	3: 101,804,482 (GRCm39)	L181P	probably damaging	Het
Slc34a1	T	A	13: 55,556,884 (GRCm39)	L241H	probably damaging	Het
Slc4a4	C	A	5: 89,280,238 (GRCm39)	H354Q	probably damaging	Het
Sorcs2	T	C	5: 36,178,596 (GRCm39)	E1131G	probably damaging	Het
Ssc4d	C	A	5: 135,996,817 (GRCm39)	D95Y	probably damaging	Het
Thyn1	T	A	9: 26,915,070 (GRCm39)	M74K	probably benign	Het
Tlr4	C	T	4: 66,758,662 (GRCm39)	T485I	probably benign	Het
Trem1	A	G	17: 48,544,277 (GRCm39)	T101A	probably benign	Het
Ttc17	T	C	2: 94,202,141 (GRCm39)	E387G	probably damaging	Het
Vmn2r103	A	T	17: 20,013,259 (GRCm39)	T127S	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
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
IGL02731:Tcte1	APN	17	45,850,812 (GRCm39)	missense	probably benign	0.00
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

2013-06-21