Mutagenetix > Incidental Mutation

Incidental Mutation 'R7619:Tcp11l2'

589062

Institutional Source

Beutler Lab

Gene Symbol

Tcp11l2

Ensembl Gene

ENSMUSG00000020034

Gene Name

t-complex 11 (mouse) like 2

Synonyms

E430026E19Rik

MMRRC Submission

045686-MU

Accession Numbers

Essential gene?

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

Stock #

R7619 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84576626-84614359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84594758 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 249 (F249S)

Ref Sequence

ENSEMBL: ENSMUSP00000020223 (fasta)

Gene Model

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

AlphaFold

Q8K1H7

Predicted Effect

probably damaging
Transcript: ENSMUST00000020223
AA Change: F249S

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

SMART Domains

Protein: ENSMUSP00000020223
Gene: ENSMUSG00000020034
AA Change: F249S

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	C	G	16: 14,445,419	P748A	probably damaging	Het
Abcc12	A	G	8: 86,566,553	V2A	probably damaging	Het
Anxa3	T	C	5: 96,830,404	Y216H	probably damaging	Het
Arpc1a	C	A	5: 145,104,858	T317K	probably benign	Het
C330018D20Rik	A	G	18: 56,962,411	L34S	probably damaging	Het
C5ar1	A	G	7: 16,248,579	F172S	probably damaging	Het
Ccl27a	G	A	4: 41,774,166		probably benign	Het
Clip1	T	C	5: 123,614,279	N480D		Het
Cttnbp2nl	A	G	3: 105,004,760	S603P	possibly damaging	Het
Dmc1	A	T	15: 79,596,242		probably null	Het
Dnhd1	A	G	7: 105,674,268	I626V	probably benign	Het
Dnm2	A	G	9: 21,505,634	N821S	probably benign	Het
Dst	T	C	1: 34,199,428	L1723S	probably benign	Het
Ep300	T	A	15: 81,608,198	M245K	unknown	Het
Fam227a	T	C	15: 79,617,766	T536A	probably benign	Het
Fbn2	G	T	18: 58,080,227	R963S	possibly damaging	Het
Fbxo42	T	G	4: 141,200,362	I651S	possibly damaging	Het
Ggnbp1	T	A	17: 27,018,131	M1K	probably null	Het
Gm10800	AAAGAAAACTGAA	ACAAGAAAACTGAA	2: 98,667,033		probably null	Het
Gm12794	T	G	4: 101,941,300	F156C	probably benign	Het
Grid2	T	C	6: 63,931,101	F242L	possibly damaging	Het
Igf2r	A	G	17: 12,698,273	V1580A	possibly damaging	Het
March4	A	G	1: 72,534,989	V50A	possibly damaging	Het
Mettl15	T	A	2: 109,092,875	R401*	probably null	Het
Mki67	A	T	7: 135,699,377	H1309Q	probably benign	Het
Mtor	T	C	4: 148,462,795	Y412H	probably damaging	Het
Myef2	C	T	2: 125,123,476	G15S	probably benign	Het
Napepld	A	T	5: 21,675,848	I183N	probably damaging	Het
Nbeal2	T	C	9: 110,625,818	E2644G	probably benign	Het
Neb	C	T	2: 52,296,426	R878Q	possibly damaging	Het
Olfr685	A	G	7: 105,180,749	V203A	probably damaging	Het
Otol1	A	T	3: 70,027,869	H398L	probably damaging	Het
Pcdhga9	A	G	18: 37,738,752	S545G	probably damaging	Het
Rhbdl1	T	C	17: 25,837,017	S4G	possibly damaging	Het
Ric1	A	G	19: 29,579,775	E420G	probably benign	Het
Sap30l	G	A	11: 57,808,061	R120H	probably damaging	Het
Scn2a	T	C	2: 65,715,903	F937L	probably damaging	Het
Sdf2	G	A	11: 78,251,163	G108D	probably damaging	Het
Skint5	T	C	4: 113,524,108	S1263G	unknown	Het
Stab1	A	G	14: 31,145,237	I1722T	probably benign	Het
Syn3	A	G	10: 86,057,564	S472P	unknown	Het
Thoc7	T	A	14: 13,961,819		probably null	Het
Tvp23a	C	A	16: 10,428,738	C61F	probably damaging	Het
Ubfd1	G	A	7: 122,067,383	G34D	probably benign	Het
Vmn1r160	A	T	7: 22,871,542	T107S	probably damaging	Het
Vmn2r108	T	A	17: 20,472,195	K133I	probably benign	Het
Vmn2r15	A	T	5: 109,288,324		probably null	Het
Wdr25	G	A	12: 108,992,893	G344S	possibly damaging	Het
Zfp354c	C	T	11: 50,817,808		probably null	Het
Zfp560	G	T	9: 20,348,910	Q219K	probably benign	Het
Zfp691	C	T	4: 119,170,984	G17E	probably damaging	Het
Zfp930	T	A	8: 69,209,158	M1K	probably null	Het
Zkscan14	A	G	5: 145,195,359	F454S	probably benign	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
R7774:Tcp11l2	UTSW	10	84604983	missense	possibly damaging	0.95
R8145:Tcp11l2	UTSW	10	84608616	missense	probably damaging	1.00
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'- TGTGACACATAGGTAGTTGTCAG -3'
(R):5'- TCTCAGCACATTTTCTGAGACAG -3'

Sequencing Primer
(F):5'- CACATAGGTAGTTGTCAGTTTCAACG -3'
(R):5'- CAACTAGAAGTTTGCAATGTCAAC -3'

Posted On

2019-10-24