Mutagenetix > Incidental Mutation

Incidental Mutation 'R6251:Tcte1'

506253

Institutional Source

Beutler Lab

Gene Symbol

Tcte1

Ensembl Gene

ENSMUSG00000023949

Gene Name

t-complex-associated testis expressed 1

Synonyms

D17Sil1, Tcte-1

MMRRC Submission

044368-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6251 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45834360-45853605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45846085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 230 (T230S)

Ref Sequence

ENSEMBL: ENSMUSP00000109175 (fasta)

Gene Model

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

AlphaFold

A6H639

Predicted Effect

probably benign
Transcript: ENSMUST00000113547
AA Change: T230S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109175
Gene: ENSMUSG00000023949
AA Change: T230S

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,504,445 (GRCm39)	S36P	probably damaging	Het
Agmo	A	G	12: 37,302,538 (GRCm39)	D125G	probably damaging	Het
Arhgap26	A	T	18: 39,490,880 (GRCm39)	S328C	probably null	Het
Arl6	T	C	16: 59,439,169 (GRCm39)	D175G	probably damaging	Het
Asb3	G	A	11: 31,005,559 (GRCm39)	A192T	probably damaging	Het
Atp10b	A	T	11: 43,126,573 (GRCm39)	M1110L	possibly damaging	Het
Cacna1i	T	C	15: 80,220,883 (GRCm39)	I175T	probably damaging	Het
Car15	A	T	16: 17,655,227 (GRCm39)	I71N	probably benign	Het
Casq1	T	A	1: 172,044,407 (GRCm39)	Y140F	probably benign	Het
Ccdc93	C	T	1: 121,362,269 (GRCm39)	T17M	possibly damaging	Het
Cfap46	CCTTCTTCT	CCTTCT	7: 139,218,816 (GRCm39)		probably benign	Het
Ciart	G	A	3: 95,788,323 (GRCm39)		probably benign	Het
Cul5	A	T	9: 53,558,094 (GRCm39)	V170D	probably benign	Het
Cyb5r3	T	C	15: 83,038,917 (GRCm39)	D224G	probably benign	Het
Daam1	G	A	12: 72,035,723 (GRCm39)	G964R	probably damaging	Het
Daglb	T	A	5: 143,475,689 (GRCm39)	L383Q	probably damaging	Het
Dazap2	T	G	15: 100,514,864 (GRCm39)	H28Q	possibly damaging	Het
Dnttip2	A	T	3: 122,068,905 (GRCm39)	D40V	probably benign	Het
Dynlt2b	T	A	16: 32,245,727 (GRCm39)	D125E	possibly damaging	Het
Epn1	G	T	7: 5,098,925 (GRCm39)	D406Y	probably damaging	Het
Epn1	G	T	7: 5,098,935 (GRCm39)	R409L	probably damaging	Het
Evc	T	C	5: 37,457,843 (GRCm39)	T966A	probably benign	Het
Extl3	T	C	14: 65,314,375 (GRCm39)	D269G	probably damaging	Het
Gfra3	TGCGC	TGC	18: 34,828,864 (GRCm39)		probably null	Het
Gpr87	A	T	3: 59,086,528 (GRCm39)	F326I	probably damaging	Het
Hivep3	C	A	4: 119,952,137 (GRCm39)	P151H	probably damaging	Het
Kcnj14	T	A	7: 45,467,440 (GRCm39)	E302V	probably damaging	Het
Kdm5d	T	C	Y: 921,693 (GRCm39)	Y534H	probably damaging	Homo
Map3k5	T	A	10: 20,014,006 (GRCm39)		probably null	Het
Mdn1	A	G	4: 32,748,590 (GRCm39)	T4212A	probably benign	Het
Ms4a6d	A	T	19: 11,564,504 (GRCm39)	S122R	probably damaging	Het
Mtarc1	G	A	1: 184,527,648 (GRCm39)	R271W	probably damaging	Het
Nectin3	A	T	16: 46,215,513 (GRCm39)	H76Q	probably damaging	Het
Notch1	C	A	2: 26,364,182 (GRCm39)	E846D	possibly damaging	Het
Or1e23	A	G	11: 73,407,534 (GRCm39)	S164P	probably benign	Het
Or4a67	T	C	2: 88,598,632 (GRCm39)	E9G	probably damaging	Het
Or8b36	GTTT	GTTTGCTTTTT	9: 37,937,842 (GRCm39)		probably null	Het
Or8b36	TT	TTGCTGTGT	9: 37,937,844 (GRCm39)		probably null	Het
Or8b36	G	GGGATTGC	9: 37,937,833 (GRCm39)		probably null	Het
Or8b36	TGTTT	TGTTTGCAGTTT	9: 37,937,841 (GRCm39)		probably null	Het
Or8g18	T	A	9: 39,149,514 (GRCm39)	I72F	possibly damaging	Het
Pfkl	C	T	10: 77,825,399 (GRCm39)		probably null	Het
Pigz	T	C	16: 31,764,424 (GRCm39)	V494A	possibly damaging	Het
Pik3r4	T	C	9: 105,531,247 (GRCm39)	V516A	probably benign	Het
Polr2b	G	A	5: 77,496,141 (GRCm39)	R1104K	probably benign	Het
Rap1a	A	T	3: 105,639,311 (GRCm39)	L116*	probably null	Het
Rnf114	T	C	2: 167,356,649 (GRCm39)	*230R	probably null	Het
Rtl1	G	T	12: 109,560,083 (GRCm39)	N585K	probably benign	Het
Serpinb5	G	T	1: 106,802,795 (GRCm39)	R110I	possibly damaging	Het
Spink6	T	C	18: 44,207,498 (GRCm39)		probably null	Het
Spopfm1	G	T	3: 94,173,208 (GRCm39)	S72I	probably damaging	Het
Stk39	A	T	2: 68,137,383 (GRCm39)		probably null	Het
Tcstv2a	T	C	13: 120,724,907 (GRCm39)		probably benign	Het
Tecpr1	C	A	5: 144,135,394 (GRCm39)	V1020L	probably damaging	Het
Tmc7	T	C	7: 118,160,261 (GRCm39)	Y192C	possibly damaging	Het
Trim63	A	T	4: 134,050,537 (GRCm39)	T274S	probably benign	Het
Wdr43	G	A	17: 71,957,048 (GRCm39)		probably null	Het
Zfr	T	C	15: 12,160,677 (GRCm39)	I750T	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
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
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

Predicted Primers

PCR Primer
(F):5'- GACCCCAACGTGATCCTGG -3'
(R):5'- GGAGAAGCAATCCCAAAGACAAT -3'

Sequencing Primer
(F):5'- AACGTGATCCTGGACCTGCTG -3'
(R):5'- GCAATCCCAAAGACAATGAGAAAG -3'

Posted On

2018-03-15