Mutagenetix > Incidental Mutation

Incidental Mutation 'R8379:Tcp11l2'

646872

Institutional Source

Beutler Lab

Gene Symbol

Tcp11l2

Ensembl Gene

ENSMUSG00000020034

Gene Name

t-complex 11 (mouse) like 2

Synonyms

E430026E19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R8379 (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 84613605 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 478 (Y478C)

Ref Sequence

ENSEMBL: ENSMUSP00000020223 (fasta)

Gene Model

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

AlphaFold

Q8K1H7

Predicted Effect

probably damaging
Transcript: ENSMUST00000020223
AA Change: Y478C

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

SMART Domains

Protein: ENSMUSP00000020223
Gene: ENSMUSG00000020034
AA Change: Y478C

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	T	C	11: 72,029,300	D314G	probably benign	Het
Ankrd12	T	G	17: 65,983,944	E1498A	probably benign	Het
Appl1	A	T	14: 26,925,415		probably null	Het
Auh	A	G	13: 52,909,313	*116R	probably null	Het
Ccdc7a	T	A	8: 128,964,936	H402L	probably benign	Het
Ccr4	T	C	9: 114,492,167	T277A	probably benign	Het
Col18a1	C	T	10: 77,053,238	V1302I	probably benign	Het
Csnk1a1	T	C	18: 61,555,854	I35T	probably benign	Het
Csnk1e	T	C	15: 79,420,682	R374G	possibly damaging	Het
Ddx11	A	G	17: 66,130,025	R105G	probably benign	Het
Denr	C	A	5: 123,927,061	T159K	possibly damaging	Het
Dmp1	C	A	5: 104,211,705	Y82*	probably null	Het
Dok3	A	G	13: 55,524,020	V246A	probably benign	Het
Endov	A	C	11: 119,491,897	K57Q	possibly damaging	Het
Fam160a2	T	C	7: 105,385,135	N430D	possibly damaging	Het
Fam83a	A	G	15: 58,009,800	T342A	probably benign	Het
Fbln1	G	A	15: 85,232,572	C275Y	probably damaging	Het
Foxi1	A	G	11: 34,207,530	I165T	possibly damaging	Het
Gm14496	A	T	2: 182,000,482	I649F	probably damaging	Het
Gm9268	C	T	7: 43,047,846	P776S	probably damaging	Het
Grin2b	A	G	6: 135,922,969	S305P	probably damaging	Het
Grm1	G	A	10: 10,689,135	T1143M	possibly damaging	Het
Ifi202b	C	A	1: 173,974,732		probably null	Het
Klhl32	A	T	4: 24,629,194	D491E	probably damaging	Het
Klk1b1	C	T	7: 43,970,343	R109C	possibly damaging	Het
Krt13	A	G	11: 100,118,880	L358P	probably damaging	Het
Limk2	G	A	11: 3,371,162		probably benign	Het
Mdn1	A	G	4: 32,756,453	D4720G	probably null	Het
Mkln1	T	A	6: 31,458,965	Y286*	probably null	Het
Muc6	C	A	7: 141,644,312	E1143*	probably null	Het
Myh15	A	G	16: 49,081,188	I242M	probably benign	Het
Noc4l	T	G	5: 110,650,962	K241Q	probably damaging	Het
Nup88	C	A	11: 70,969,781	L57F	possibly damaging	Het
Obsl1	G	T	1: 75,503,857	F374L	possibly damaging	Het
Olfr612	A	G	7: 103,538,976	I86T	possibly damaging	Het
Orm1	A	T	4: 63,346,118	D137V	probably damaging	Het
Osbpl2	T	A	2: 180,137,102	D9E	probably damaging	Het
P4ha3	G	T	7: 100,293,779	D124Y	probably damaging	Het
Poteg	T	C	8: 27,453,326	V208A	probably benign	Het
Ppfibp1	A	G	6: 147,030,345	D963G	probably damaging	Het
Prdx6	G	T	1: 161,251,090	D9E	probably benign	Het
Prrc2b	C	A	2: 32,214,654	N1381K	probably damaging	Het
Ptpn14	T	A	1: 189,833,401	V222E	possibly damaging	Het
Rasal1	C	T	5: 120,666,355	R431C	probably benign	Het
Rexo5	A	T	7: 119,834,285	M422L	probably benign	Het
Rnf17	TG	T	14: 56,424,542	132	probably null	Het
Robo2	A	T	16: 73,933,700	I1008N	probably damaging	Het
Sidt1	T	A	16: 44,286,392	Y225F	probably benign	Het
Slc6a15	A	T	10: 103,389,187	E45D	probably benign	Het
Spata31d1a	T	G	13: 59,702,854	M487L	probably benign	Het
St6galnac1	C	A	11: 116,775,499		probably benign	Het
Tdrd12	G	T	7: 35,524,057	C67*	probably null	Het
Tead2	G	A	7: 45,218,081	G78D	probably damaging	Het
Tfpi2	A	T	6: 3,963,849	N194K	probably damaging	Het
Timd2	A	G	11: 46,677,200		probably null	Het
Tmem270	T	C	5: 134,901,703	T235A	probably benign	Het
Tnrc18	T	C	5: 142,788,402	D224G		Het
Tsga10	G	T	1: 37,801,878	Q416K	probably benign	Het
Ulk1	C	A	5: 110,787,665	L911F	probably damaging	Het
Usp8	T	C	2: 126,742,571	S567P	probably benign	Het
Zdhhc3	A	C	9: 123,089,078	C129G	probably damaging	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
R8145:Tcp11l2	UTSW	10	84608616	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'- GGTTATGTACTTCAATAACGGAACCAG -3'
(R):5'- GGTTACACGGATGCAGTCTAGG -3'

Sequencing Primer
(F):5'- GTACTTCAATAACGGAACCAGTAAAG -3'
(R):5'- GAGAATGGGCCACATCTCCAATG -3'

Posted On

2020-09-02