Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Tcp10b'

557607

Institutional Source

Beutler Lab

Gene Symbol

Tcp10b

Ensembl Gene

ENSMUSG00000055602

Gene Name

t-complex protein 10b

Synonyms

T66B-a, Tcp-10bt, Tcp-10b, D17Leh66ba, D17Leh66B

MMRRC Submission

045260-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13061104-13082481 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 13081746 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 439 (*439Q)

Ref Sequence

ENSEMBL: ENSMUSP00000083997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086787] [ENSMUST00000116666] [ENSMUST00000163227]

AlphaFold

E9PYJ0

Predicted Effect

probably null
Transcript: ENSMUST00000086787
AA Change: *439Q

SMART Domains

Protein: ENSMUSP00000083997
Gene: ENSMUSG00000055602
AA Change: *439Q

Domain	Start	End	E-Value	Type
coiled coil region	57	94	N/A	INTRINSIC
low complexity region	245	255	N/A	INTRINSIC
Pfam:Tcp10_C	261	438	2.3e-91	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000116666
AA Change: *439Q

SMART Domains

Protein: ENSMUSP00000112365
Gene: ENSMUSG00000055602
AA Change: *439Q

Domain	Start	End	E-Value	Type
coiled coil region	57	94	N/A	INTRINSIC
low complexity region	245	255	N/A	INTRINSIC
Pfam:Tcp10_C	263	437	1.5e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163227

SMART Domains

Protein: ENSMUSP00000128059
Gene: ENSMUSG00000055602

Domain	Start	End	E-Value	Type
coiled coil region	57	94	N/A	INTRINSIC
low complexity region	245	255	N/A	INTRINSIC
Pfam:Tcp10_C	261	401	1.3e-68	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Abca8a	T	A	11: 110,074,142	Q443L	probably benign	Het
Acad12	A	T	5: 121,607,373	M285K	probably damaging	Het
Afdn	T	A	17: 13,888,946	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,313,615	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,626,053	E526G	probably damaging	Het
Car13	A	G	3: 14,645,208	D70G	probably benign	Het
Ccdc127	A	T	13: 74,352,877	L4F	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ccr10	A	G	11: 101,174,278	I142T	probably benign	Het
Cep126	C	T	9: 8,087,399	V1005M	probably benign	Het
Chil6	A	G	3: 106,394,412	I124T	probably benign	Het
Coq8a	A	G	1: 180,170,341		probably null	Het
Ctf2	T	A	7: 127,719,304	K174N	probably damaging	Het
Dapk1	T	C	13: 60,696,395	V76A	possibly damaging	Het
Disp1	A	G	1: 183,087,625	M1077T	possibly damaging	Het
Dnah9	T	A	11: 65,855,372	K3972*	probably null	Het
Dusp7	T	A	9: 106,368,915	S40T	unknown	Het
Emg1	T	C	6: 124,705,749	T88A	probably benign	Het
Fbxo5	A	G	10: 5,802,043	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,225,980	D167A	probably damaging	Het
Fes	A	T	7: 80,380,861	V562E	probably damaging	Het
Foxj1	C	G	11: 116,332,408	G190R	probably damaging	Het
Gatsl2	C	A	5: 134,135,190	T75N	probably damaging	Het
Gdf15	T	G	8: 70,631,342	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,487,010	V355F	probably damaging	Het
Herc4	T	A	10: 63,308,415	Y776N	probably benign	Het
Hspg2	G	A	4: 137,514,719	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778	Y56*	probably null	Het
Itpr1	C	T	6: 108,386,640	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,126,696	I519K	probably benign	Het
Kcnh5	T	A	12: 74,897,709	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,919,489	Y103H	probably damaging	Het
Knl1	A	G	2: 119,070,785	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,226,454	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,498,467	P138L	probably benign	Het
Lhx1	G	A	11: 84,519,872	P300S	probably damaging	Het
Mppe1	G	A	18: 67,229,771	A131V	probably benign	Het
Neb	A	T	2: 52,271,592	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,817,720	F740L	probably benign	Het
Nop10	A	G	2: 112,262,046	N8S	probably benign	Het
Olfr1097	A	C	2: 86,890,649	H175Q	probably benign	Het
Opalin	T	A	19: 41,069,935	T20S	possibly damaging	Het
Pask	C	T	1: 93,310,905	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,815,663	E44V	probably damaging	Het
Pde1a	A	G	2: 79,865,214	M463T	probably benign	Het
Pde6a	A	T	18: 61,281,525	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,106,112	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,139,363	N234S	probably damaging	Het
Ptprm	T	A	17: 66,809,627	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,069,090	D30Y	probably benign	Het
Rassf10	A	T	7: 112,954,500	I103F	probably damaging	Het
Rfc4	A	G	16: 23,115,433	I206T	probably benign	Het
Rhcg	A	G	7: 79,617,441	F29S	probably damaging	Het
Sec11c	A	G	18: 65,812,732	I89V	probably benign	Het
Serac1	T	C	17: 6,065,076	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,273,162	N175S	probably null	Het
Slc25a19	C	T	11: 115,616,547	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,465,383	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,636,245		probably benign	Het
Spats1	T	A	17: 45,449,169	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,603	T219A	probably benign	Het
Spink13	A	G	18: 62,614,955	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859	Y613H	possibly damaging	Het
Tmed2	T	A	5: 124,546,920	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,660,536	Y370*	probably null	Het
Ttn	A	G	2: 76,812,244	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,363,280	M381K	probably damaging	Het
Wdr26	A	G	1: 181,203,130	Y200H	probably damaging	Het
Wdr78	G	A	4: 103,096,616	P129S	probably benign	Het
Zfhx4	A	T	3: 5,244,083	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,286,441	L173P	probably benign	Het

Other mutations in Tcp10b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Tcp10b	APN	17	13080160	missense	probably damaging	1.00
IGL03296:Tcp10b	APN	17	13073556	missense	probably damaging	0.97
maimonides	UTSW	17	13073579	missense	probably damaging	0.97
BB004:Tcp10b	UTSW	17	13069692	missense	probably benign	0.00
BB014:Tcp10b	UTSW	17	13069692	missense	probably benign	0.00
H8441:Tcp10b	UTSW	17	13070861	missense	probably damaging	0.98
R1817:Tcp10b	UTSW	17	13067703	missense	possibly damaging	0.92
R1901:Tcp10b	UTSW	17	13081626	missense	possibly damaging	0.56
R4657:Tcp10b	UTSW	17	13073617	critical splice donor site	probably null
R4749:Tcp10b	UTSW	17	13070945	critical splice donor site	probably null
R5335:Tcp10b	UTSW	17	13063067	critical splice donor site	probably null
R6401:Tcp10b	UTSW	17	13073579	missense	probably damaging	0.97
R7927:Tcp10b	UTSW	17	13069692	missense	probably benign	0.00
R8549:Tcp10b	UTSW	17	13063028	missense	probably benign	0.21
R9055:Tcp10b	UTSW	17	13062941	missense	probably damaging	1.00
R9099:Tcp10b	UTSW	17	13061769	unclassified	probably benign
R9105:Tcp10b	UTSW	17	13066349	missense	probably benign	0.08
R9801:Tcp10b	UTSW	17	13062980	missense	possibly damaging	0.67
X0062:Tcp10b	UTSW	17	13063061	missense	probably damaging	0.99

Predicted Primers

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

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

Posted On

2019-06-26