Mutagenetix > Incidental Mutation

Incidental Mutation 'R5555:Ttll9'

435321

Institutional Source

Beutler Lab

Gene Symbol

Ttll9

Ensembl Gene

ENSMUSG00000074673

Gene Name

tubulin tyrosine ligase-like family, member 9

Synonyms

4930509O20Rik, 1700016F23Rik

MMRRC Submission

043112-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5555 (G1)

Quality Score

176

Status

Not validated

Chromosome

Chromosomal Location

152962485-153008482 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 152990100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099197] [ENSMUST00000099197] [ENSMUST00000103155] [ENSMUST00000103155] [ENSMUST00000109801] [ENSMUST00000146626] [ENSMUST00000146626] [ENSMUST00000152158] [ENSMUST00000152158] [ENSMUST00000165343]

AlphaFold

A2APC3

Predicted Effect

probably null
Transcript: ENSMUST00000099197

SMART Domains

Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673

Domain	Start	End	E-Value	Type
Pfam:TTL	69	397	2.2e-87	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000099197

SMART Domains

Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673

Domain	Start	End	E-Value	Type
Pfam:TTL	69	397	2.2e-87	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000103155

SMART Domains

Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673

Domain	Start	End	E-Value	Type
Pfam:TTL	67	397	5.3e-88	PFAM
low complexity region	452	461	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000103155

SMART Domains

Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673

Domain	Start	End	E-Value	Type
Pfam:TTL	67	397	5.3e-88	PFAM
low complexity region	452	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109801

SMART Domains

Protein: ENSMUSP00000105426
Gene: ENSMUSG00000074673

Domain	Start	End	E-Value	Type
Pfam:TTL	68	222	4.8e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130021

Predicted Effect

probably benign
Transcript: ENSMUST00000146626

Predicted Effect

probably benign
Transcript: ENSMUST00000146626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151641

Predicted Effect

probably benign
Transcript: ENSMUST00000152158

Predicted Effect

probably benign
Transcript: ENSMUST00000152158

Predicted Effect

probably benign
Transcript: ENSMUST00000165343

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	T	A	5: 9,422,296		probably null	Het
Atg7	T	C	6: 114,702,053	V366A	probably damaging	Het
Cadm2	A	T	16: 66,784,815	V192E	probably damaging	Het
Chil6	C	T	3: 106,389,952	S291N	possibly damaging	Het
D7Ertd443e	T	C	7: 134,349,591	T118A	probably benign	Het
Dennd4b	G	A	3: 90,268,368	R148Q	probably damaging	Het
Dnah1	T	A	14: 31,290,819	T1837S	probably damaging	Het
Ext1	A	G	15: 53,088,143	V515A	probably damaging	Het
Fer1l4	T	C	2: 156,048,189	E272G	probably damaging	Het
Fras1	T	A	5: 96,677,377	H1475Q	probably benign	Het
Grid1	T	C	14: 35,520,705	S672P	possibly damaging	Het
Gtpbp4	A	G	13: 8,979,427		probably null	Het
Hsp90aa1	A	T	12: 110,692,734	V543E	probably damaging	Het
Irf5	T	C	6: 29,531,146	S4P	probably benign	Het
Kif2b	G	T	11: 91,575,460	Q666K	probably benign	Het
Macc1	A	T	12: 119,450,375	H762L	probably benign	Het
Map1s	C	T	8: 70,917,107	T941M	probably damaging	Het
Mrgprb1	T	A	7: 48,447,775	I130F	probably benign	Het
Nbeal1	T	G	1: 60,237,152	V684G	possibly damaging	Het
Ngly1	C	T	14: 16,270,508	Q173*	probably null	Het
Plcb3	A	T	19: 6,966,219	M104K	probably benign	Het
Plcg2	T	A	8: 117,612,995	Y1048*	probably null	Het
Ptprf	T	C	4: 118,224,924	Y1039C	probably damaging	Het
Rab38	A	G	7: 88,430,487	Y29C	probably damaging	Het
Rcan2	T	A	17: 44,037,030	V210E	probably damaging	Het
Rptn	A	T	3: 93,396,701	Q447L	probably benign	Het
Scel	G	A	14: 103,602,206	R495K	probably benign	Het
Scn11a	G	T	9: 119,755,238	P1437Q	probably damaging	Het
Sim2	A	G	16: 94,109,456	D239G	probably damaging	Het
Skap2	A	G	6: 51,860,018	Y356H	probably damaging	Het
Skint11	A	G	4: 114,194,601	T49A	probably benign	Het
Snx33	G	A	9: 56,925,397	H463Y	probably benign	Het
Steap2	T	C	5: 5,677,544	T264A	possibly damaging	Het
Stk40	T	A	4: 126,135,059	V238E	probably damaging	Het
Sun2	T	C	15: 79,734,127	D277G	probably benign	Het
Vmn1r54	G	A	6: 90,269,365	C87Y	probably benign	Het

Other mutations in Ttll9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00714:Ttll9	APN	2	152984260	missense	probably damaging	0.99
IGL01107:Ttll9	APN	2	153002889	splice site	probably benign
IGL01365:Ttll9	APN	2	153000134	missense	possibly damaging	0.87
IGL01751:Ttll9	APN	2	152983105	missense	probably damaging	0.99
IGL02264:Ttll9	APN	2	153000135	missense	probably damaging	1.00
IGL02477:Ttll9	APN	2	153000197	missense	possibly damaging	0.77
IGL02899:Ttll9	APN	2	153002951	missense	probably damaging	0.99
BB001:Ttll9	UTSW	2	152962487	unclassified	probably benign
BB011:Ttll9	UTSW	2	152962487	unclassified	probably benign
I2288:Ttll9	UTSW	2	152972339	splice site	probably benign
R0053:Ttll9	UTSW	2	152962506	utr 5 prime	probably benign
R0116:Ttll9	UTSW	2	152983134	missense	probably damaging	0.99
R0319:Ttll9	UTSW	2	153000098	splice site	probably null
R0388:Ttll9	UTSW	2	153000179	missense	probably benign
R0556:Ttll9	UTSW	2	152973606	critical splice donor site	probably null
R0689:Ttll9	UTSW	2	152983127	missense	probably benign	0.05
R1829:Ttll9	UTSW	2	153000236	missense	possibly damaging	0.61
R2016:Ttll9	UTSW	2	153002294	missense	probably damaging	1.00
R2144:Ttll9	UTSW	2	153003007	missense	probably benign
R2229:Ttll9	UTSW	2	152983063	missense	probably damaging	0.98
R2309:Ttll9	UTSW	2	152984145	missense	probably damaging	1.00
R2314:Ttll9	UTSW	2	152983127	missense	probably benign	0.05
R4191:Ttll9	UTSW	2	153003007	missense	probably benign
R4539:Ttll9	UTSW	2	152994091	missense	probably damaging	1.00
R4866:Ttll9	UTSW	2	153003000	missense	probably benign	0.02
R5115:Ttll9	UTSW	2	152989590	intron	probably benign
R5279:Ttll9	UTSW	2	152962544	missense	possibly damaging	0.80
R5342:Ttll9	UTSW	2	152991652	missense	possibly damaging	0.87
R5375:Ttll9	UTSW	2	152984224	missense	probably benign	0.13
R5417:Ttll9	UTSW	2	153002992	missense	probably benign
R5574:Ttll9	UTSW	2	152984248	missense	possibly damaging	0.90
R5598:Ttll9	UTSW	2	152984314	missense	probably damaging	1.00
R5613:Ttll9	UTSW	2	152973601	frame shift	probably null
R6366:Ttll9	UTSW	2	152991605	missense	probably damaging	0.99
R6409:Ttll9	UTSW	2	152999341	missense	probably damaging	1.00
R6655:Ttll9	UTSW	2	153000303	splice site	probably null
R6657:Ttll9	UTSW	2	152984262	missense	probably damaging	1.00
R6766:Ttll9	UTSW	2	152999300	nonsense	probably null
R7012:Ttll9	UTSW	2	153003062	missense	possibly damaging	0.46
R7162:Ttll9	UTSW	2	152989603	missense	probably damaging	0.99
R7804:Ttll9	UTSW	2	153002358	critical splice donor site	probably null
R7862:Ttll9	UTSW	2	153006975	missense	probably benign	0.00
R7924:Ttll9	UTSW	2	152962487	unclassified	probably benign
R7998:Ttll9	UTSW	2	152991626	missense	possibly damaging	0.55
R8041:Ttll9	UTSW	2	153003036	missense	possibly damaging	0.62
R8367:Ttll9	UTSW	2	152994148	missense	probably benign
R8897:Ttll9	UTSW	2	153002921	missense	probably damaging	0.99
R9061:Ttll9	UTSW	2	152976193	missense	possibly damaging	0.46
R9667:Ttll9	UTSW	2	152990069	nonsense	probably null
R9716:Ttll9	UTSW	2	152976216	missense	probably benign	0.00
R9780:Ttll9	UTSW	2	152994103	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ATGATCAGGGCCCTGTGAAC -3'
(R):5'- CAGTGACCTCATGAAGAGCC -3'

Sequencing Primer
(F):5'- TGTGGGGAGCAGGAGGATTC -3'
(R):5'- GTGACCTCATGAAGAGCCAAGAC -3'

Posted On

2016-10-24