Mutagenetix > Incidental Mutation

Incidental Mutation 'R9689:Tcp11'

729080

Institutional Source

Beutler Lab

Gene Symbol

Tcp11

Ensembl Gene

ENSMUSG00000062859

Gene Name

t-complex protein 11

Synonyms

Tcp-11, D17Ken1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9689 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28285725-28299583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28286028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 529 (Q529L)

Ref Sequence

ENSEMBL: ENSMUSP00000038590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025058] [ENSMUST00000042692] [ENSMUST00000043925] [ENSMUST00000088027] [ENSMUST00000114836] [ENSMUST00000114842] [ENSMUST00000129046]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025058

SMART Domains

Protein: ENSMUSP00000025058
Gene: ENSMUSG00000024219

Domain	Start	End	E-Value	Type
low complexity region	22	62	N/A	INTRINSIC
ANK	75	104	1.08e-5	SMART
ANK	108	137	7.42e-4	SMART
ANK	165	194	1.88e-5	SMART
ANK	198	227	1.93e-2	SMART
ANK	231	260	1.64e-5	SMART
ANK	263	292	7.71e-2	SMART
low complexity region	419	439	N/A	INTRINSIC
low complexity region	633	647	N/A	INTRINSIC
SAM	709	778	3.2e-16	SMART
SAM	783	851	4.33e-13	SMART
Blast:PTB	861	919	2e-22	BLAST
PTB	953	1087	3.17e-43	SMART
low complexity region	1126	1135	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042692
AA Change: Q529L

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038590
Gene: ENSMUSG00000062859
AA Change: Q529L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043925
AA Change: Q450L

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046002
Gene: ENSMUSG00000062859
AA Change: Q450L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000088027

SMART Domains

Protein: ENSMUSP00000085344
Gene: ENSMUSG00000024219

Domain	Start	End	E-Value	Type
low complexity region	22	62	N/A	INTRINSIC
ANK	75	104	1.08e-5	SMART
ANK	108	137	7.42e-4	SMART
ANK	144	173	1.88e-5	SMART
ANK	177	206	1.93e-2	SMART
ANK	210	239	1.64e-5	SMART
ANK	242	271	7.71e-2	SMART
low complexity region	398	418	N/A	INTRINSIC
low complexity region	612	626	N/A	INTRINSIC
SAM	688	757	3.2e-16	SMART
SAM	762	830	4.33e-13	SMART
Blast:PTB	840	898	2e-22	BLAST
PTB	932	1066	3.17e-43	SMART
low complexity region	1105	1114	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114836
AA Change: Q450L

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110485
Gene: ENSMUSG00000062859
AA Change: Q450L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114842

SMART Domains

Protein: ENSMUSP00000110491
Gene: ENSMUSG00000024219

Domain	Start	End	E-Value	Type
low complexity region	22	62	N/A	INTRINSIC
ANK	75	104	1.08e-5	SMART
ANK	108	137	7.42e-4	SMART
ANK	165	194	1.88e-5	SMART
ANK	198	227	1.93e-2	SMART
ANK	231	260	1.64e-5	SMART
ANK	263	292	7.71e-2	SMART
low complexity region	419	439	N/A	INTRINSIC
low complexity region	633	647	N/A	INTRINSIC
SAM	709	778	3.2e-16	SMART
SAM	783	851	4.33e-13	SMART
Blast:PTB	861	919	2e-22	BLAST
PTB	953	1087	3.17e-43	SMART

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	A	5: 81,942,780 (GRCm39)	V1538E	probably damaging	Het
Ank1	T	C	8: 23,631,253 (GRCm39)	V1833A	probably benign	Het
Apc2	G	A	10: 80,150,733 (GRCm39)	R1929Q	probably damaging	Het
Asb1	A	G	1: 91,474,708 (GRCm39)	I85V	probably damaging	Het
Bco2	A	T	9: 50,445,938 (GRCm39)	I486K	probably damaging	Het
Braf	T	A	6: 39,591,084 (GRCm39)	I792F	probably damaging	Het
Cacng2	T	C	15: 77,879,399 (GRCm39)	K308E	possibly damaging	Het
Ccr6	G	T	17: 8,475,821 (GRCm39)	R342L	possibly damaging	Het
Cdh16	T	A	8: 105,341,108 (GRCm39)	I802F	probably benign	Het
Cftr	T	C	6: 18,313,649 (GRCm39)	I1291T	probably damaging	Het
CN725425	T	A	15: 91,120,030 (GRCm39)	D50E	possibly damaging	Het
Cnga1	T	C	5: 72,762,170 (GRCm39)	Y448C	probably benign	Het
Cntnap1	T	C	11: 101,072,178 (GRCm39)	I477T	probably damaging	Het
Col18a1	G	A	10: 76,916,578 (GRCm39)	Q366*	probably null	Het
Csf3	C	A	11: 98,592,949 (GRCm39)	A104D	probably benign	Het
Dmbt1	A	G	7: 130,660,015 (GRCm39)	H422R	unknown	Het
Dnah12	A	G	14: 26,590,871 (GRCm39)	D3325G	probably null	Het
Dnah17	T	C	11: 117,963,731 (GRCm39)	D2514G	probably damaging	Het
Fgf9	T	A	14: 58,310,680 (GRCm39)	H56Q	probably damaging	Het
Fgfr3	A	T	5: 33,892,248 (GRCm39)	Y689F	probably damaging	Het
Fhip2a	G	A	19: 57,369,710 (GRCm39)	V418I	probably benign	Het
Gar1	A	T	3: 129,624,269 (GRCm39)	D74E	probably damaging	Het
Helq	T	C	5: 100,934,927 (GRCm39)	K488E	possibly damaging	Het
Hmg20a	A	G	9: 56,381,823 (GRCm39)	H33R	possibly damaging	Het
Igsf10	T	C	3: 59,233,624 (GRCm39)	D1703G	probably damaging	Het
Jph3	A	T	8: 122,480,377 (GRCm39)	I352F	probably benign	Het
Kng1	T	C	16: 22,879,224 (GRCm39)	F96S	probably damaging	Het
Krtap5-2	C	A	7: 141,729,029 (GRCm39)	S217I	unknown	Het
Lamp3	T	C	16: 19,518,455 (GRCm39)	S261G	possibly damaging	Het
Macf1	A	G	4: 123,365,654 (GRCm39)	F3036L	probably benign	Het
Map4k4	G	A	1: 40,058,722 (GRCm39)	R972H	possibly damaging	Het
Mccc1	C	T	3: 36,030,903 (GRCm39)	D388N	probably benign	Het
Mcoln1	T	A	8: 3,557,436 (GRCm39)	Y147*	probably null	Het
Mei1	T	C	15: 81,997,129 (GRCm39)	S622P		Het
Ms4a5	T	C	19: 11,254,058 (GRCm39)	I136M	possibly damaging	Het
Nav3	A	G	10: 109,605,034 (GRCm39)	L1013P	probably damaging	Het
Ndrg2	T	C	14: 52,146,071 (GRCm39)	N170S	probably damaging	Het
Ndufa12	G	A	10: 94,035,832 (GRCm39)	G40D	probably damaging	Het
Ogdhl	T	A	14: 32,059,523 (GRCm39)	V390E	probably damaging	Het
Or10ak12	A	C	4: 118,666,999 (GRCm39)	S21A	probably benign	Het
Or1e26	T	C	11: 73,479,686 (GRCm39)	R293G	probably damaging	Het
Or4d10	A	T	19: 12,051,567 (GRCm39)	I143K	possibly damaging	Het
Or4f6	T	A	2: 111,839,124 (GRCm39)	M136L	probably benign	Het
Or8g37	A	T	9: 39,731,801 (GRCm39)	I289F	possibly damaging	Het
Osgin1	A	G	8: 120,172,247 (GRCm39)	D347G	possibly damaging	Het
Oxct2a	A	T	4: 123,216,687 (GRCm39)	N231K	probably damaging	Het
Pak6	C	T	2: 118,520,243 (GRCm39)	T78M	probably benign	Het
Pde4dip	T	C	3: 97,649,841 (GRCm39)	Y1006C	probably damaging	Het
Psg18	A	G	7: 18,084,880 (GRCm39)	I193T	probably benign	Het
Psmd2	C	A	16: 20,479,173 (GRCm39)	H677Q	probably benign	Het
Resf1	T	A	6: 149,229,766 (GRCm39)	C937*	probably null	Het
Scaf11	C	T	15: 96,316,195 (GRCm39)	R1123H	probably damaging	Het
Setx	A	T	2: 29,051,555 (GRCm39)	S2036C	probably damaging	Het
Skint6	A	G	4: 113,093,546 (GRCm39)	F199S	probably damaging	Het
Slc3a2	A	T	19: 8,686,594 (GRCm39)	S367R	probably damaging	Het
Spidr	T	C	16: 15,871,304 (GRCm39)	D222G	probably damaging	Het
Styxl1	T	C	5: 135,799,190 (GRCm39)	E8G	probably null	Het
Sycp2l	T	A	13: 41,295,256 (GRCm39)	F308I	probably damaging	Het
Syk	A	C	13: 52,778,808 (GRCm39)	K298T	probably benign	Het
Tgfbi	A	G	13: 56,762,100 (GRCm39)	Y61C	probably damaging	Het
Tlr9	G	A	9: 106,100,721 (GRCm39)	R4H	probably benign	Het
Top2a	A	C	11: 98,914,883 (GRCm39)	S4A	probably benign	Het
Ttc4	G	T	4: 106,528,919 (GRCm39)	H166N	probably benign	Het
Ube2o	C	A	11: 116,435,639 (GRCm39)	R383L	possibly damaging	Het
Umod	A	G	7: 119,076,517 (GRCm39)	V83A	possibly 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
R2965:Tcp11	UTSW	17	28,288,239 (GRCm39)	missense	probably benign	0.38
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

Predicted Primers

PCR Primer
(F):5'- TGATGTCATCCCAGGGAGATG -3'
(R):5'- TGAGAGAACTAGACAGCTGTCCC -3'

Sequencing Primer
(F):5'- ATCCCAGGGAGATGCGCTTTC -3'
(R):5'- GCTGTCCCCCAAACTCAGATC -3'

Posted On

2022-10-06