Mutagenetix > Incidental Mutation

Incidental Mutation 'R2965:Tcp11'

256044

Institutional Source

Beutler Lab

Gene Symbol

Tcp11

Ensembl Gene

ENSMUSG00000062859

Gene Name

t-complex protein 11

Synonyms

Tcp-11, D17Ken1

MMRRC Submission

040521-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2965 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

28285725-28299583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 28288239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 330 (D330Y)

Ref Sequence

ENSEMBL: ENSMUSP00000110485 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042692
AA Change: D409Y

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000038590
Gene: ENSMUSG00000062859
AA Change: D409Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043925
AA Change: D330Y

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046002
Gene: ENSMUSG00000062859
AA Change: D330Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114836
AA Change: D330Y

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110485
Gene: ENSMUSG00000062859
AA Change: D330Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123628

Predicted Effect

probably benign
Transcript: ENSMUST00000129046

SMART Domains

Protein: ENSMUSP00000116959
Gene: ENSMUSG00000062859

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,275,829 (GRCm39)	R511*	probably null	Het
Add1	C	A	5: 34,788,058 (GRCm39)	D702E	probably benign	Het
Aff3	A	G	1: 38,248,791 (GRCm39)	I772T	probably damaging	Het
Ankar	T	C	1: 72,714,979 (GRCm39)	I382V	probably benign	Het
Anks1	A	G	17: 28,272,879 (GRCm39)	T925A	probably benign	Het
Asprv1	T	A	6: 86,605,348 (GRCm39)	C65S	probably damaging	Het
Atp8a1	T	C	5: 67,805,049 (GRCm39)	D1022G	probably benign	Het
Cep250	A	G	2: 155,836,798 (GRCm39)	K2256E	probably benign	Het
Chsy1	G	A	7: 65,821,912 (GRCm39)	G716R	probably damaging	Het
Cntln	T	C	4: 84,892,264 (GRCm39)		probably null	Het
Col13a1	G	A	10: 61,797,110 (GRCm39)	R106W	probably damaging	Het
Col2a1	A	G	15: 97,873,976 (GRCm39)	I1402T	unknown	Het
Col4a3	T	C	1: 82,626,321 (GRCm39)	L86P	unknown	Het
Cul9	A	G	17: 46,813,154 (GRCm39)	V2355A	probably damaging	Het
Ddx43	C	A	9: 78,313,661 (GRCm39)	Y197*	probably null	Het
Dnah7b	T	A	1: 46,246,732 (GRCm39)	I1636N	probably damaging	Het
Dpysl5	G	A	5: 30,948,941 (GRCm39)	D399N	probably damaging	Het
Dyrk2	T	A	10: 118,696,242 (GRCm39)	K339*	probably null	Het
Fam187b	A	C	7: 30,677,154 (GRCm39)	D221A	probably benign	Het
Fbxw21	A	G	9: 108,974,578 (GRCm39)	I314T	probably benign	Het
Fgd6	T	A	10: 93,880,056 (GRCm39)	F303L	probably benign	Het
Fstl3	T	C	10: 79,617,057 (GRCm39)	V200A	probably benign	Het
Gm10784	A	T	13: 50,099,233 (GRCm39)		noncoding transcript	Het
Gpr45	G	A	1: 43,071,668 (GRCm39)	D104N	possibly damaging	Het
Gria1	C	T	11: 57,076,627 (GRCm39)	Q8*	probably null	Het
H2-T22	A	G	17: 36,351,537 (GRCm39)	L231S	probably damaging	Het
Ice1	A	T	13: 70,750,697 (GRCm39)	D1796E	probably benign	Het
Ing1	T	A	8: 11,611,641 (GRCm39)	S26R	probably benign	Het
Klhl2	C	T	8: 65,205,794 (GRCm39)	V376M	probably benign	Het
Lrriq1	A	G	10: 103,050,761 (GRCm39)	S664P	probably benign	Het
Ltf	G	T	9: 110,857,540 (GRCm39)	C443F	possibly damaging	Het
Mgam	T	C	6: 40,745,154 (GRCm39)	V1807A	possibly damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Mycbp2	A	G	14: 103,534,794 (GRCm39)	V304A	probably benign	Het
Nek10	T	C	14: 14,836,202 (GRCm38)	L141P	probably damaging	Het
Noa1	T	C	5: 77,454,191 (GRCm39)	E483G	possibly damaging	Het
Or5b101	C	T	19: 13,005,412 (GRCm39)	A94T	probably benign	Het
Pkd1l1	T	A	11: 8,824,236 (GRCm39)	S1110C	probably damaging	Het
Potefam1	A	T	2: 111,034,364 (GRCm39)	S359T	possibly damaging	Het
Ppp4r4	T	C	12: 103,579,080 (GRCm39)	S873P	probably damaging	Het
Prss35	A	G	9: 86,637,635 (GRCm39)	D135G	probably damaging	Het
Pth	T	C	7: 112,985,136 (GRCm39)	H79R	probably benign	Het
Rab21	T	C	10: 115,130,814 (GRCm39)	N164S	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Slc4a5	C	T	6: 83,273,651 (GRCm39)	T997I	probably damaging	Het
Ssrp1	A	G	2: 84,871,930 (GRCm39)	T385A	possibly damaging	Het
Tcf15	T	C	2: 151,985,871 (GRCm39)	I109T	probably damaging	Het
Tktl2	T	A	8: 66,964,715 (GRCm39)	V91E	probably benign	Het
Usp48	G	A	4: 137,341,073 (GRCm39)	V358M	probably damaging	Het
Vmn1r228	A	G	17: 20,996,609 (GRCm39)	I303T	probably damaging	Het
Zfp229	T	G	17: 21,965,010 (GRCm39)	H413Q	probably damaging	Het

Other mutations in Tcp11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02993:Tcp11	APN	17	28,289,490 (GRCm39)	missense	probably damaging	1.00
IGL03148:Tcp11	APN	17	28,289,444 (GRCm39)	missense	possibly damaging	0.95
R0487:Tcp11	UTSW	17	28,298,897 (GRCm39)	splice site	probably null
R0603:Tcp11	UTSW	17	28,286,784 (GRCm39)	missense	probably damaging	1.00
R0745:Tcp11	UTSW	17	28,286,134 (GRCm39)	missense	possibly damaging	0.80
R1170:Tcp11	UTSW	17	28,290,636 (GRCm39)	missense	probably damaging	1.00
R5249:Tcp11	UTSW	17	28,290,757 (GRCm39)	missense	possibly damaging	0.71
R5358:Tcp11	UTSW	17	28,296,994 (GRCm39)	missense	probably benign	0.05
R5819:Tcp11	UTSW	17	28,288,210 (GRCm39)	missense	probably damaging	1.00
R6190:Tcp11	UTSW	17	28,290,691 (GRCm39)	missense	probably benign	0.00
R6657:Tcp11	UTSW	17	28,290,646 (GRCm39)	missense	probably damaging	1.00
R6698:Tcp11	UTSW	17	28,290,804 (GRCm39)	missense	possibly damaging	0.63
R7020:Tcp11	UTSW	17	28,290,679 (GRCm39)	missense	possibly damaging	0.79
R7084:Tcp11	UTSW	17	28,285,995 (GRCm39)	missense	probably benign	0.43
R8262:Tcp11	UTSW	17	28,286,001 (GRCm39)	missense	probably damaging	1.00
R8363:Tcp11	UTSW	17	28,288,221 (GRCm39)	missense	possibly damaging	0.93
R8465:Tcp11	UTSW	17	28,286,766 (GRCm39)	missense	probably damaging	1.00
R8675:Tcp11	UTSW	17	28,288,565 (GRCm39)	missense	probably benign	0.00
R8830:Tcp11	UTSW	17	28,299,204 (GRCm39)	missense	probably benign	0.26
R8831:Tcp11	UTSW	17	28,299,193 (GRCm39)	missense	probably damaging	0.97
R8940:Tcp11	UTSW	17	28,299,204 (GRCm39)	missense	probably damaging	0.96
R9689:Tcp11	UTSW	17	28,286,028 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CACATACACAGGTACCATGGGG -3'
(R):5'- CTGGGACCCTGAGAATGAAG -3'

Sequencing Primer
(F):5'- GCCTGGAACTTACAGATCTGCATG -3'
(R):5'- CCCTGAGAATGAAGAGTTTCCTG -3'

Posted On

2014-12-29