Mutagenetix > Incidental Mutation

Incidental Mutation 'R6698:Tcp11'

528669

Institutional Source

Beutler Lab

Gene Symbol

Tcp11

Ensembl Gene

ENSMUSG00000062859

Gene Name

t-complex protein 11

Synonyms

D17Ken1, Tcp-11

MMRRC Submission

044816-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6698 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28066747-28080639 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28071830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 106 (I106N)

Ref Sequence

ENSEMBL: ENSMUSP00000116959 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042692] [ENSMUST00000043925] [ENSMUST00000114836] [ENSMUST00000129046] [ENSMUST00000141806]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042692
AA Change: I185N

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000038590
Gene: ENSMUSG00000062859
AA Change: I185N

Domain	Start	End	E-Value	Type
Pfam:Tcp11	126	550	6.2e-102	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043925
AA Change: I106N

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046002
Gene: ENSMUSG00000062859
AA Change: I106N

Domain	Start	End	E-Value	Type
Pfam:Tcp11	44	474	3.3e-129	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114836
AA Change: I106N

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110485
Gene: ENSMUSG00000062859
AA Change: I106N

Domain	Start	End	E-Value	Type
Pfam:Tcp11	44	474	3.3e-129	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123628

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129046
AA Change: I106N

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116959
Gene: ENSMUSG00000062859
AA Change: I106N

Domain	Start	End	E-Value	Type
Pfam:Tcp11	44	237	2.5e-71	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134228

Predicted Effect

probably benign
Transcript: ENSMUST00000141806

SMART Domains

Protein: ENSMUSP00000122010
Gene: ENSMUSG00000062859

Domain	Start	End	E-Value	Type
Pfam:Tcp11	123	183	7.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142461

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brca2	T	C	5: 150,532,394	V200A	probably damaging	Het
Camk2g	T	A	14: 20,742,708	K393*	probably null	Het
Catsperb	T	A	12: 101,509,207	F337I	probably damaging	Het
Cdk17	T	C	10: 93,228,678	Y270H	probably damaging	Het
Col5a3	C	T	9: 20,779,033	G1162R	probably damaging	Het
Col6a5	T	A	9: 105,934,175	N715I	unknown	Het
Fam198b	A	G	3: 79,936,595	I10V	probably damaging	Het
Fancg	A	G	4: 43,007,034	S248P	probably benign	Het
Flvcr1	T	C	1: 191,025,732	Y79C	probably damaging	Het
Gabrp	A	G	11: 33,557,017	S198P	probably damaging	Het
Glp1r	A	G	17: 30,936,401	Y454C	probably damaging	Het
Gpr158	A	C	2: 21,827,110	D1007A	probably damaging	Het
Gsdmc3	A	G	15: 63,860,271	F302S	possibly damaging	Het
Gsdmc4	T	A	15: 63,893,764	D312V	probably benign	Het
Itga5	T	C	15: 103,351,381	Y663C	probably benign	Het
Kif1b	A	T	4: 149,274,956	M108K	probably damaging	Het
Klf11	T	G	12: 24,653,619	S18A	probably damaging	Het
Lmtk2	T	C	5: 144,174,919	V819A	probably benign	Het
Lrba	A	G	3: 86,304,425	M451V	probably damaging	Het
Lrp1b	T	C	2: 41,302,946	D488G	probably damaging	Het
Mark4	T	C	7: 19,429,437	N589S	probably benign	Het
Mis12	T	C	11: 71,025,186	F15S	probably damaging	Het
Nif3l1	A	G	1: 58,450,489	D179G	probably benign	Het
Nlrx1	A	G	9: 44,265,807	W3R	probably damaging	Het
Nup210l	G	A	3: 90,182,508	S1194N	possibly damaging	Het
Olfr1165-ps	A	G	2: 88,101,217	F257L	unknown	Het
Olfr451-ps1	A	T	6: 42,801,202	T154S	probably benign	Het
Park2	A	G	17: 11,067,296		probably null	Het
Pnkd	T	A	1: 74,350,677	L320Q	probably damaging	Het
Rcc2	G	A	4: 140,702,275	C40Y	probably benign	Homo
Rilpl2	C	T	5: 124,469,780	E126K	probably damaging	Het
Rpn2	T	C	2: 157,297,410	I208T	possibly damaging	Het
Skint4	G	T	4: 112,119,899	C170F	probably damaging	Het
Synj1	C	G	16: 90,960,452	V877L	probably damaging	Het
Tg	A	G	15: 66,839,362	Y991C	probably damaging	Het
Trib3	A	G	2: 152,338,419	S285P	probably damaging	Het
Wdr49	A	T	3: 75,429,366	W345R	probably benign	Het
Wnt5a	A	G	14: 28,518,463	Y190C	possibly damaging	Het
Xpo1	A	G	11: 23,294,040	E955G	probably benign	Het

Other mutations in Tcp11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02993:Tcp11	APN	17	28070516	missense	probably damaging	1.00
IGL03148:Tcp11	APN	17	28070470	missense	possibly damaging	0.95
R0487:Tcp11	UTSW	17	28079923	splice site	probably null
R0603:Tcp11	UTSW	17	28067810	missense	probably damaging	1.00
R0745:Tcp11	UTSW	17	28067160	missense	possibly damaging	0.80
R1170:Tcp11	UTSW	17	28071662	missense	probably damaging	1.00
R2965:Tcp11	UTSW	17	28069265	missense	probably benign	0.38
R5249:Tcp11	UTSW	17	28071783	missense	possibly damaging	0.71
R5358:Tcp11	UTSW	17	28078020	missense	probably benign	0.05
R5819:Tcp11	UTSW	17	28069236	missense	probably damaging	1.00
R6190:Tcp11	UTSW	17	28071717	missense	probably benign	0.00
R6657:Tcp11	UTSW	17	28071672	missense	probably damaging	1.00
R7020:Tcp11	UTSW	17	28071705	missense	possibly damaging	0.79
R7084:Tcp11	UTSW	17	28067021	missense	probably benign	0.43
R8262:Tcp11	UTSW	17	28067027	missense	probably damaging	1.00
R8363:Tcp11	UTSW	17	28069247	missense	possibly damaging	0.93
R8465:Tcp11	UTSW	17	28067792	missense	probably damaging	1.00
R8675:Tcp11	UTSW	17	28069591	missense	probably benign	0.00
R8830:Tcp11	UTSW	17	28080230	missense	probably benign	0.26
R8831:Tcp11	UTSW	17	28080219	missense	probably damaging	0.97
R8940:Tcp11	UTSW	17	28080230	missense	probably damaging	0.96
R9689:Tcp11	UTSW	17	28067054	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TCGTCTCGGATTGGCGCA -3'
(R):5'- GAACCCATTGCTGCTCATCT -3'

Sequencing Primer
(F):5'- TCGGATTGGCGCACACAAC -3'
(R):5'- GCTACACAGAGAAAGCCTGTCTTG -3'

Posted On

2018-07-24