Mutagenetix > Incidental Mutations

Incidental Mutation 'RF008:Tcp11l2'

602998

Institutional Source

Beutler Lab

Gene Symbol

Tcp11l2

Ensembl Gene

ENSMUSG00000020034

Gene Name

t-complex 11 (mouse) like 2

Synonyms

E430026E19Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

RF008 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84576626-84614359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 84613524 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 451 (P451Q)

Ref Sequence

ENSEMBL: ENSMUSP00000020223 (fasta)

Gene Model

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

AlphaFold

Q8K1H7

Predicted Effect

probably damaging
Transcript: ENSMUST00000020223
AA Change: P451Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020223
Gene: ENSMUSG00000020034
AA Change: P451Q

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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	C	T	9: 50,765,767	R8H	probably benign	Het
Abi3bp	CCACGACC	CCACGACCACGACC	16: 56,627,589		probably benign	Het
Acan	T	G	7: 79,092,400	V515G	possibly damaging	Het
Acap3	TGG	TGGACTGCTGCATCCAGG	4: 155,905,098		probably benign	Het
AI837181	G	GGCT	19: 5,425,238		probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,560,924		probably benign	Het
Anks1b	G	A	10: 90,033,225	G49D	probably damaging	Het
Arid1b	GCG	GCGACG	17: 4,995,594		probably benign	Het
Arid1b	CGG	CGGAGG	17: 4,995,595		probably benign	Het
Begain	G	GCCGCCC	12: 109,033,437		probably null	Het
Cacna1e	A	G	1: 154,442,136	M1500T	probably damaging	Het
Casp16-ps	C	A	17: 23,555,227		probably benign	Het
Ccdc174	T	C	6: 91,899,366	S395P	possibly damaging	Het
Ccdc7a	T	G	8: 128,964,953	Q396H	probably damaging	Het
Ccdc85c	CC	CCGGC	12: 108,274,628		probably benign	Het
Cemip	T	C	7: 83,961,635	T704A	probably damaging	Het
Col7a1	C	T	9: 108,964,479	P1370S	unknown	Het
Cts8	T	C	13: 61,249,288	I273V	probably benign	Het
Cyp2c50	T	A	19: 40,089,824	I42N	probably damaging	Het
Dbt	T	G	3: 116,548,068	Y439*	probably null	Het
Dennd1b	T	A	1: 139,053,397	D116E	probably damaging	Het
Dkk2	T	A	3: 132,178,102	H254Q	probably damaging	Het
Dpy30	C	A	17: 74,315,907	V27F	possibly damaging	Het
Efhd2	GCCGCC	GCCGCCCCCGCC	4: 141,874,758		probably benign	Het
Eif4g3	A	T	4: 138,175,924	E1020V	probably damaging	Het
Elmo1	T	A	13: 20,274,536	S156T	probably benign	Het
Fancd2os	T	C	6: 113,597,920	T42A	probably damaging	Het
Fbrsl1	TGTGC	TGTGCGGGTGTGGGTGC	5: 110,378,118		probably benign	Het
Fsip2	T	C	2: 82,977,840	V1501A	probably benign	Het
Gabrb2	A	G	11: 42,626,878	Y509C	probably damaging	Het
Gm8369	GTGT	GTGTTTGT	19: 11,511,754		probably null	Het
Gpr139	T	C	7: 119,144,867	D165G	probably benign	Het
Grik2	T	C	10: 49,244,384	E603G	probably damaging	Het
H13	G	A	2: 152,669,669	E30K	probably damaging	Het
Ifitm10	T	A	7: 142,328,593	M147L	unknown	Het
Itpkb	C	T	1: 180,333,322	R338W	probably damaging	Het
Kif1b	T	A	4: 149,251,738		probably null	Het
Krtap28-10	CAGCCA	CAGCCATAGCCA	1: 83,042,128		probably benign	Het
Krtap28-10	AGCCAC	AGCCACCGCCAC	1: 83,042,135		probably benign	Het
Krtap28-10	ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC	ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC	1: 83,042,253		probably benign	Het
Krtap28-10	AGCCACCACAGC	AGCCACCACAGCCACCGCCACCACAGC	1: 83,042,279		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 95,940,816		probably benign	Het
Mical2	T	C	7: 112,323,626	Y613H	probably damaging	Het
Mlf2	C	A	6: 124,934,296	H91Q	probably benign	Het
Nat9	A	T	11: 115,183,386	I152N	probably damaging	Het
Olfr1248	A	T	2: 89,617,367	I275N	possibly damaging	Het
Olfr961	T	C	9: 39,647,263	M179T	probably benign	Het
Pdik1l	CACCAC	CACCACAACCAC	4: 134,279,511		probably benign	Het
Phldb2	T	C	16: 45,762,974	S1054G	probably damaging	Het
Pkhd1l1	TTTT	TTTTTTTTTTGTTT	15: 44,558,505		probably benign	Het
Plcg2	T	A	8: 117,573,524		probably null	Het
Prdm16	T	A	4: 154,341,995	R444S	probably damaging	Het
Rgs6	T	C	12: 83,063,449	F163L	probably damaging	Het
Rnaseh2a	A	T	8: 84,960,058	L154*	probably null	Het
Rpp38	A	G	2: 3,329,035	S277P	unknown	Het
Setd1a	GGTAGTGGT	GGTAGTGGTTGTAGTGGT	7: 127,785,314		probably benign	Het
Shisa6	CGACAGCAGCAGAG	CG	11: 66,525,923		probably benign	Het
Slc27a2	T	A	2: 126,553,255	L34Q	possibly damaging	Het
Slc7a6	G	A	8: 106,195,398	V386I	probably benign	Het
Spry1	C	T	3: 37,643,115	T169I	possibly damaging	Het
Sry	TGCTGCTGCTG	TGCTGCTGCTGCTG	Y: 2,662,826		probably benign	Het
Stk24	A	T	14: 121,294,760	I275N	probably benign	Het
Strn	TC	TCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGGC	17: 78,677,287		probably null	Het
Tfeb	AGC	AGCTGC	17: 47,786,102		probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,801,289		probably benign	Het
V1ra8	A	G	6: 90,203,609	T265A	probably benign	Het
Zfp106	CTCCTGGCAGT	CT	2: 120,524,545		probably benign	Het
Zfp612	C	A	8: 110,089,561	H467N	probably damaging	Het
Zfp777	A	T	6: 48,042,048	Y317*	probably null	Het
Znrd1as	CACCACCACCACCACCAC	CACCACCACCACCACCACCACAACCACCACCACCACCAC	17: 36,965,054		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
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
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

Predicted Primers

PCR Primer
(F):5'- CTAAGAAGGTCTGTGCCTCGTC -3'
(R):5'- AGCATCTATCTTCCCCACGG -3'

Sequencing Primer
(F):5'- TCACAAAGCCAGTTCAGATGTG -3'
(R):5'- GCTTCATCCCGGAAGAGCAG -3'

Posted On

2019-12-04