Mutagenetix > Incidental Mutation

Incidental Mutation 'R8145:Tcp11l2'

632761

Institutional Source

Beutler Lab

Gene Symbol

Tcp11l2

Ensembl Gene

ENSMUSG00000020034

Gene Name

t-complex 11 (mouse) like 2

Synonyms

E430026E19Rik

MMRRC Submission

067573-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R8145 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84576626-84614359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84608616 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 430 (N430D)

Ref Sequence

ENSEMBL: ENSMUSP00000020223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020223]

AlphaFold

Q8K1H7

Predicted Effect

probably damaging
Transcript: ENSMUST00000020223
AA Change: N430D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020223
Gene: ENSMUSG00000020034
AA Change: N430D

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
low complexity region	36	55	N/A	INTRINSIC
Pfam:Tcp11	77	497	5.8e-103	PFAM

Coding Region Coverage

1x: 99.7%
3x: 99.5%
10x: 97.9%
20x: 90.4%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,998,267	S3039P	probably damaging	Het
5430419D17Rik	G	T	7: 131,296,316	V2088L	unknown	Het
Alg6	A	T	4: 99,746,327	D273V	probably damaging	Het
Ankk1	T	A	9: 49,415,797	H694L	possibly damaging	Het
Asb7	G	T	7: 66,659,948	N173K	probably benign	Het
Atp10b	A	T	11: 43,202,122	Q428L	probably damaging	Het
Bag3	A	G	7: 128,545,888	E409G	possibly damaging	Het
Bpifb2	T	A	2: 153,891,312	V398E	probably damaging	Het
Ccr6	T	C	17: 8,256,113	V50A	probably benign	Het
Cdx1	T	C	18: 61,019,923	N204D	probably damaging	Het
Ciao1	T	C	2: 127,245,806	D203G	possibly damaging	Het
Cldn7	A	T	11: 69,966,066	Y47F	possibly damaging	Het
Col6a1	A	T	10: 76,723,471	D110E	possibly damaging	Het
Cpne6	C	A	14: 55,514,568	Q261K	probably benign	Het
Crebbp	T	C	16: 4,128,525	T497A	probably benign	Het
Cyp2s1	A	G	7: 25,808,042		probably null	Het
Ddx42	A	T	11: 106,240,061	I454F	possibly damaging	Het
Ddx5	G	T	11: 106,782,085	A538E	probably benign	Het
Dnajb1	T	A	8: 83,610,315	V238D	probably damaging	Het
Dntt	A	G	19: 41,055,785	Y463C	probably damaging	Het
Eif4b	A	G	15: 102,092,988	T437A	unknown	Het
Eppk1	T	C	15: 76,106,700	T1994A	possibly damaging	Het
Fbxw15	A	T	9: 109,555,590	C381S	probably benign	Het
Fosl2	T	A	5: 32,153,068	V287D	probably damaging	Het
Gdpd4	A	G	7: 98,040,870	T590A	probably benign	Het
Gm20075	A	T	13: 96,081,141	D63E	probably benign	Het
Gm21994	T	C	2: 150,254,535	K325E	probably benign	Het
Gm49368	A	G	7: 128,113,315	E877G	probably null	Het
Grin2b	C	T	6: 135,732,499	A1350T	probably benign	Het
Gzmk	A	G	13: 113,171,896	L257P	probably damaging	Het
Has2	T	A	15: 56,681,779	K142N	probably benign	Het
Hectd1	T	C	12: 51,784,233	E944G	possibly damaging	Het
Hmcn1	T	C	1: 150,753,660	R949G	probably benign	Het
Hmcn2	A	G	2: 31,423,105	E3442G	probably damaging	Het
Irf9	T	A	14: 55,605,798	C152*	probably null	Het
Itga3	A	G	11: 95,052,464	W936R	probably damaging	Het
Klhl11	G	T	11: 100,463,914	D360E	probably damaging	Het
Lnx1	G	A	5: 74,685,399	T130I	probably benign	Het
Lrrc36	C	T	8: 105,443,764	P82L	probably damaging	Het
Map4k4	T	C	1: 40,000,534	C29R		Het
Mki67	T	C	7: 135,694,336	K2990E	probably benign	Het
Mnt	G	A	11: 74,842,973	A477T	unknown	Het
Mroh9	A	G	1: 163,062,527	S214P	probably benign	Het
Mrps18b	C	A	17: 35,914,401	R94L	possibly damaging	Het
Myh6	T	A	14: 54,953,925	I820F	probably benign	Het
Nphp3	A	G	9: 104,035,851	T943A	probably benign	Het
Olfr548-ps1	A	G	7: 102,542,623	H229R	probably benign	Het
Olfr559	C	A	7: 102,723,730	L253F	probably damaging	Het
Papolb	T	C	5: 142,528,598	D430G	probably benign	Het
Pdzd2	T	C	15: 12,407,372	H334R	probably benign	Het
Pkd1l2	T	A	8: 117,055,003	M768L	probably benign	Het
Pklr	G	T	3: 89,145,488	R547L	probably benign	Het
Pla2g4a	T	C	1: 149,840,643	Y697C	probably benign	Het
Prkcd	T	C	14: 30,602,062	T435A	probably benign	Het
Rfx1	C	T	8: 84,074,028	P86L	probably benign	Het
Rnf19b	C	A	4: 129,084,069	A693D	probably benign	Het
Scn9a	A	G	2: 66,487,410	I1578T	probably damaging	Het
Slamf9	A	G	1: 172,476,375	S96G	probably benign	Het
Slc17a8	T	C	10: 89,576,371	D584G	probably benign	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc2a7	C	A	4: 150,168,361	T486K	probably damaging	Het
Slc6a20a	G	A	9: 123,637,000	A592V	probably damaging	Het
Spz1	T	C	13: 92,575,101	D289G	probably benign	Het
Sspo	G	A	6: 48,467,749	C2226Y	possibly damaging	Het
Taf4b	T	G	18: 14,830,028	D608E	probably damaging	Het
Tagap1	A	T	17: 6,956,127	I390N	probably damaging	Het
Thsd7b	T	C	1: 129,760,299	L649P	probably damaging	Het
Tmprss15	C	T	16: 78,960,585	G956R	probably damaging	Het
Tnc	G	T	4: 64,017,479	Q407K	probably benign	Het
Tti1	C	A	2: 158,007,589	E577*	probably null	Het
Vmn2r79	A	T	7: 87,037,654	M748L	probably benign	Het
Zbtb37	C	T	1: 161,020,084	R451Q	probably damaging	Het
Zfp566	A	T	7: 30,078,360	I132N	probably benign	Het
Zik1	C	T	7: 10,490,003	G389E	probably damaging	Het
Zzef1	A	T	11: 72,908,469	K2382*	probably null	Het

Other mutations in Tcp11l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00725:Tcp11l2	APN	10	84594710	missense	possibly damaging	0.82
IGL00845:Tcp11l2	APN	10	84604983	missense	possibly damaging	0.95
IGL02375:Tcp11l2	APN	10	84605068	critical splice donor site	probably null
IGL02418:Tcp11l2	APN	10	84613606	nonsense	probably null
IGL03325:Tcp11l2	APN	10	84604900	missense	possibly damaging	0.76
R0031:Tcp11l2	UTSW	10	84591140	missense	probably damaging	0.98
R0591:Tcp11l2	UTSW	10	84604594	missense	probably benign	0.05
R1563:Tcp11l2	UTSW	10	84584944	missense	probably damaging	0.96
R1607:Tcp11l2	UTSW	10	84613487	missense	probably damaging	1.00
R1840:Tcp11l2	UTSW	10	84604599	missense	probably damaging	0.98
R2144:Tcp11l2	UTSW	10	84613499	missense	probably damaging	1.00
R2251:Tcp11l2	UTSW	10	84605069	critical splice donor site	probably null
R4289:Tcp11l2	UTSW	10	84605073	splice site	probably null
R4639:Tcp11l2	UTSW	10	84584936	missense	probably damaging	1.00
R4844:Tcp11l2	UTSW	10	84613691	missense	probably benign	0.00
R4973:Tcp11l2	UTSW	10	84591163	missense	probably damaging	0.98
R5264:Tcp11l2	UTSW	10	84613660	missense	probably damaging	1.00
R5970:Tcp11l2	UTSW	10	84594797	splice site	probably benign
R6966:Tcp11l2	UTSW	10	84591269	missense	possibly damaging	0.79
R7250:Tcp11l2	UTSW	10	84587241	critical splice donor site	probably null
R7535:Tcp11l2	UTSW	10	84594659	missense	possibly damaging	0.67
R7565:Tcp11l2	UTSW	10	84587134	missense	probably damaging	1.00
R7619:Tcp11l2	UTSW	10	84594758	missense	probably damaging	1.00
R7774:Tcp11l2	UTSW	10	84604983	missense	possibly damaging	0.95
R8379:Tcp11l2	UTSW	10	84613605	missense	probably damaging	1.00
R8458:Tcp11l2	UTSW	10	84613532	nonsense	probably null
R8821:Tcp11l2	UTSW	10	84613658	missense	probably damaging	1.00
R8831:Tcp11l2	UTSW	10	84613658	missense	probably damaging	1.00
RF008:Tcp11l2	UTSW	10	84613524	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCCTGATGCAGTTTGATCTC -3'
(R):5'- CGCAGGCATTTTAGATTTTGC -3'

Sequencing Primer
(F):5'- GCAGTTTGATCTCTGTTCTCTAGGAC -3'
(R):5'- ATCTAGAGTTGATTTAGGGATCCTC -3'

Posted On

2020-06-30