Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02418:Tcte1'

292541

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 #

IGL02418

Quality Score

Status

Chromosome

Chromosomal Location

45834360-45853605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45852128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 454 (S454T)

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: S454T

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109175
Gene: ENSMUSG00000023949
AA Change: S454T

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	A	16: 56,424,479 (GRCm39)		probably benign	Het
Acsbg2	A	G	17: 57,156,730 (GRCm39)	V436A	probably benign	Het
Afap1l1	T	C	18: 61,885,648 (GRCm39)	D156G	probably damaging	Het
Arhgap21	G	A	2: 20,885,711 (GRCm39)	R489C	probably damaging	Het
Arhgap26	G	A	18: 39,490,620 (GRCm39)		probably benign	Het
Bbs5	T	G	2: 69,485,849 (GRCm39)	*89G	probably null	Het
Ceacam5	A	T	7: 17,493,359 (GRCm39)	Y794F	possibly damaging	Het
Ces3b	T	C	8: 105,812,279 (GRCm39)	V176A	probably damaging	Het
Cfi	A	G	3: 129,642,461 (GRCm39)	H105R	probably benign	Het
Chat	C	T	14: 32,168,906 (GRCm39)	V210I	possibly damaging	Het
Chd1l	A	G	3: 97,488,415 (GRCm39)	S534P	probably benign	Het
Cyb5rl	T	C	4: 106,928,182 (GRCm39)	L106P	probably damaging	Het
Cyp21a1	A	G	17: 35,023,162 (GRCm39)		probably benign	Het
Dnah12	T	C	14: 26,495,679 (GRCm39)	C1436R	probably damaging	Het
Flg2	T	A	3: 93,108,361 (GRCm39)	F130I	probably benign	Het
Fryl	T	A	5: 73,267,519 (GRCm39)		probably benign	Het
Galnt10	T	C	11: 57,671,994 (GRCm39)	V428A	probably benign	Het
Ganab	A	G	19: 8,888,433 (GRCm39)	D496G	probably null	Het
Gapvd1	T	C	2: 34,620,530 (GRCm39)	T44A	probably benign	Het
Gm17093	T	A	14: 44,758,185 (GRCm39)	M122K	unknown	Het
Gm5356	A	T	8: 89,914,064 (GRCm39)		noncoding transcript	Het
Gmppa	G	T	1: 75,415,664 (GRCm39)	G126C	probably damaging	Het
Il23r	T	C	6: 67,467,656 (GRCm39)	H37R	possibly damaging	Het
Itga11	A	G	9: 62,651,914 (GRCm39)	I349V	probably benign	Het
Lrrc42	A	T	4: 107,100,533 (GRCm39)	Y159*	probably null	Het
Naa16	C	A	14: 79,620,806 (GRCm39)	R57L	probably damaging	Het
Ntmt2	A	T	1: 163,530,725 (GRCm39)	V238E	probably damaging	Het
Or8g4	A	G	9: 39,661,787 (GRCm39)	Y35C	probably damaging	Het
Oxtr	A	T	6: 112,454,200 (GRCm39)	H21Q	probably damaging	Het
Paqr7	A	G	4: 134,234,284 (GRCm39)	Y47C	probably damaging	Het
Paxbp1	A	C	16: 90,831,000 (GRCm39)	C459G	probably damaging	Het
Pnp2	C	T	14: 51,201,293 (GRCm39)	R222C	possibly damaging	Het
Rtl1	T	C	12: 109,556,883 (GRCm39)	D1652G	probably damaging	Het
Saxo5	T	A	8: 3,526,080 (GRCm39)	F78I	probably damaging	Het
Shoc1	A	T	4: 59,049,075 (GRCm39)		probably benign	Het
Spata4	C	A	8: 55,062,978 (GRCm39)	N294K	probably benign	Het
Tcp11l2	T	A	10: 84,449,470 (GRCm39)	Y478*	probably null	Het
Thsd4	C	T	9: 60,335,598 (GRCm39)	V105I	probably damaging	Het
Tmem117	T	A	15: 94,829,765 (GRCm39)	I200N	probably benign	Het
Tpgs1	G	A	10: 79,505,289 (GRCm39)	V16M	probably benign	Het
Ttn	G	T	2: 76,797,447 (GRCm39)	T539K	probably benign	Het
Usp24	A	G	4: 106,293,557 (GRCm39)	S2542G	probably benign	Het
Vmn2r44	A	T	7: 8,380,864 (GRCm39)	L343H	probably damaging	Het
Zmat2	T	A	18: 36,927,392 (GRCm39)	Y21N	probably damaging	Het
Zyx	C	T	6: 42,334,327 (GRCm39)	A517V	probably damaging	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
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

2015-04-16