Mutagenetix > Incidental Mutation

Incidental Mutation 'R7687:Tcp10a'

593178

Institutional Source

Beutler Lab

Gene Symbol

Tcp10a

Ensembl Gene

ENSMUSG00000071322

Gene Name

t-complex protein 10a

Synonyms

D17Leh66A, D17Leh66aa, T66A-a, Gm10326, Tcp-10a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7324646-7345974 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7345108 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 433 (V433D)

Ref Sequence

ENSEMBL: ENSMUSP00000093394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095726] [ENSMUST00000128533] [ENSMUST00000129709] [ENSMUST00000138222] [ENSMUST00000140192]

AlphaFold

Q80W76

Predicted Effect

probably damaging
Transcript: ENSMUST00000095726
AA Change: V433D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093394
Gene: ENSMUSG00000071322
AA Change: V433D

Domain	Start	End	E-Value	Type
coiled coil region	57	94	N/A	INTRINSIC
low complexity region	241	256	N/A	INTRINSIC
Pfam:Tcp10_C	263	437	1.3e-83	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000128533
AA Change: V433D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114351
Gene: ENSMUSG00000071322
AA Change: V433D

Domain	Start	End	E-Value	Type
coiled coil region	57	94	N/A	INTRINSIC
low complexity region	241	256	N/A	INTRINSIC
Pfam:Tcp10_C	261	438	1.1e-90	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000129709
AA Change: V433D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114830
Gene: ENSMUSG00000071322
AA Change: V433D

Domain	Start	End	E-Value	Type
coiled coil region	57	94	N/A	INTRINSIC
low complexity region	241	256	N/A	INTRINSIC
Pfam:Tcp10_C	261	438	1.1e-90	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000138222
AA Change: V415D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115431
Gene: ENSMUSG00000071322
AA Change: V415D

Domain	Start	End	E-Value	Type
coiled coil region	36	76	N/A	INTRINSIC
low complexity region	223	238	N/A	INTRINSIC
Pfam:Tcp10_C	245	419	6.7e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140192

SMART Domains

Protein: ENSMUSP00000117557
Gene: ENSMUSG00000071322

Domain	Start	End	E-Value	Type
coiled coil region	57	94	N/A	INTRINSIC
low complexity region	241	256	N/A	INTRINSIC
Pfam:Tcp10_C	261	401	3.5e-68	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,258,182	K2383R	probably benign	Het
Acly	C	T	11: 100,504,854		probably null	Het
Baiap3	T	A	17: 25,249,337	I276F	possibly damaging	Het
Cdc14b	A	T	13: 64,209,193	D419E	probably benign	Het
Celsr2	G	T	3: 108,397,769	P2165T	probably benign	Het
Clk4	A	G	11: 51,281,398	D476G	probably benign	Het
Dera	A	G	6: 137,836,880	T10A		Het
Dip2c	A	T	13: 9,604,581	T742S	probably benign	Het
Dohh	C	A	10: 81,387,806	A231E	probably benign	Het
Dot1l	T	G	10: 80,789,368	S1150A	possibly damaging	Het
Eea1	T	A	10: 96,026,598	I794N	probably benign	Het
En2	T	C	5: 28,170,289	S277P	probably damaging	Het
Erich1	A	G	8: 14,030,691	L276P	probably damaging	Het
Flnb	A	G	14: 7,924,224	N1779S	probably damaging	Het
Frzb	T	A	2: 80,424,635	T186S	probably benign	Het
Gdf7	T	A	12: 8,298,257	R347*	probably null	Het
Ighv9-4	T	C	12: 114,300,263	I17V	not run	Het
Ipo13	G	A	4: 117,911,891	P235S	probably benign	Het
Itga2	C	A	13: 114,866,260	G565C	probably damaging	Het
Kcnc4	CCCGCCGCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGCCGCCGCCGCCGC	3: 107,458,609		probably benign	Het
Kcnk10	A	G	12: 98,435,096	I440T	probably damaging	Het
Kdm3a	T	A	6: 71,599,492	K779N	possibly damaging	Het
Kmt2d	C	T	15: 98,862,120	D1086N	unknown	Het
Kntc1	A	G	5: 123,759,089	I172V	probably benign	Het
Maip1	A	G	1: 57,411,844	E215G	probably damaging	Het
Mms19	A	T	19: 41,955,168	M417K	possibly damaging	Het
Mslnl	T	C	17: 25,743,183	V185A	probably damaging	Het
Naa11	A	T	5: 97,391,789	V170E	probably benign	Het
Ncapg	C	T	5: 45,699,885	P980S	probably benign	Het
Olfr170	T	C	16: 19,605,735	N310S	probably benign	Het
Pbxip1	A	G	3: 89,448,199	D675G	probably damaging	Het
Pdlim5	A	G	3: 142,277,847	S382P	probably benign	Het
Pkd1l1	T	A	11: 8,854,390	I2184F		Het
Plau	A	G	14: 20,839,798	Y237C	probably damaging	Het
Ppl	T	C	16: 5,097,942	T586A	probably benign	Het
Rapgef6	T	G	11: 54,661,075	I923S	possibly damaging	Het
Rbfox2	C	T	15: 77,306,494	G17D	unknown	Het
Sema3b	T	C	9: 107,603,814	D108G	probably damaging	Het
Slc6a20a	A	G	9: 123,656,266	I297T	probably damaging	Het
Slit1	A	G	19: 41,650,689	F261L	probably benign	Het
Tktl2	A	G	8: 66,513,101	E437G	probably damaging	Het
Tll1	G	T	8: 64,121,492	Y109*	probably null	Het
Tmem79	A	G	3: 88,332,581	V274A	probably damaging	Het
Tnfrsf23	G	A	7: 143,681,462	S55L	probably benign	Het
Ubd	T	C	17: 37,193,974		probably null	Het
Ubl3	C	A	5: 148,506,175	R105L	possibly damaging	Het
Ubl7	A	T	9: 57,914,584	D72V	probably damaging	Het
Wdr55	T	C	18: 36,762,023	S81P	probably damaging	Het
Wtip	T	C	7: 34,116,619	Y344C	probably damaging	Het
Zfp488	A	G	14: 33,970,400	S269P	possibly damaging	Het
Zkscan2	A	C	7: 123,499,862	S36A	probably benign	Het

Other mutations in Tcp10a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Tcp10a	APN	17	7343500	missense	probably damaging	1.00
IGL01868:Tcp10a	APN	17	7329864	missense	possibly damaging	0.79
IGL02942:Tcp10a	APN	17	7329919	missense	probably damaging	0.99
IGL03293:Tcp10a	APN	17	7326492	missense	possibly damaging	0.62
R0032:Tcp10a	UTSW	17	7336907	missense	probably benign	0.02
R0129:Tcp10a	UTSW	17	7343504	missense	probably damaging	1.00
R0271:Tcp10a	UTSW	17	7331156	missense	probably benign	0.06
R0352:Tcp10a	UTSW	17	7326406	missense	probably damaging	0.98
R0549:Tcp10a	UTSW	17	7326551	missense	probably benign	0.11
R1445:Tcp10a	UTSW	17	7326007	critical splice donor site	probably null
R2147:Tcp10a	UTSW	17	7334302	missense	probably damaging	0.98
R2937:Tcp10a	UTSW	17	7329774	missense	probably damaging	1.00
R4599:Tcp10a	UTSW	17	7336924	missense	probably damaging	0.99
R4601:Tcp10a	UTSW	17	7325975	missense	probably benign	0.01
R5982:Tcp10a	UTSW	17	7345026	missense	possibly damaging	0.61
R7132:Tcp10a	UTSW	17	7344952	missense	probably benign	0.16
R8290:Tcp10a	UTSW	17	7334317	missense	probably benign	0.01
R9129:Tcp10a	UTSW	17	7326536	missense	probably benign	0.41
R9478:Tcp10a	UTSW	17	7334341	missense	probably benign	0.12
Z1088:Tcp10a	UTSW	17	7326449	missense	probably damaging	1.00
Z1176:Tcp10a	UTSW	17	7324718	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGCTCCACTTACCAGAGTG -3'
(R):5'- CAAGATGGTGGTGGCTACATG -3'

Sequencing Primer
(F):5'- GTCTCTATTCTACAGGAACGGAGAC -3'
(R):5'- GGTGGCTACATGGTCTCTTTCTTTAC -3'

Posted On

2019-11-12