Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02899:Ttll9'

363507

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttll9

Ensembl Gene

ENSMUSG00000074673

Gene Name

tubulin tyrosine ligase-like family, member 9

Synonyms

4930509O20Rik, 1700016F23Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02899

Quality Score

Status

Chromosome

Chromosomal Location

152962485-153008482 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 153002951 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 413 (G413D)

Ref Sequence

ENSEMBL: ENSMUSP00000099444 (fasta)

Gene Model

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

AlphaFold

A2APC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000099197
AA Change: G413D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673
AA Change: G413D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000103155
AA Change: G413D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673
AA Change: G413D

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

probably benign
Transcript: ENSMUST00000146626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151641

Predicted Effect

probably benign
Transcript: ENSMUST00000152158

Predicted Effect

probably benign
Transcript: ENSMUST00000165343

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	C	A	9: 103,277,574	V173L	probably damaging	Het
Arfgef2	A	G	2: 166,869,051		probably benign	Het
Btbd7	A	G	12: 102,837,662	L373P	probably damaging	Het
Capn3	A	G	2: 120,491,901	N414S	possibly damaging	Het
Ccdc186	A	T	19: 56,793,488	I753N	probably benign	Het
Ccser2	G	A	14: 36,940,759	T156I	probably benign	Het
Celsr1	A	G	15: 86,031,726	M682T	probably damaging	Het
Cep97	C	A	16: 55,918,540	S267I	probably damaging	Het
Dhx35	A	G	2: 158,801,450	Y39C	probably damaging	Het
Dscam	A	T	16: 96,709,247	D937E	probably damaging	Het
Elmod2	A	G	8: 83,316,933	Y202H	probably damaging	Het
Fyco1	T	C	9: 123,830,331	N260S	possibly damaging	Het
Gm5591	A	G	7: 38,519,418	L677P	probably damaging	Het
Gmppa	A	G	1: 75,441,830		probably null	Het
Hltf	C	T	3: 20,099,817	T639I	probably damaging	Het
Kpnb1	T	C	11: 97,175,786	Y321C	probably damaging	Het
Lgr4	G	A	2: 109,918,253	G45R	probably damaging	Het
Ltn1	T	C	16: 87,382,659	D1538G	probably benign	Het
Maf1	T	A	15: 76,353,020		probably benign	Het
Morn5	T	C	2: 36,055,037	F91S	probably damaging	Het
Ncan	C	T	8: 70,115,048	R138H	possibly damaging	Het
Olfr1328	A	T	4: 118,934,662	M62K	probably damaging	Het
Olfr203	G	T	16: 59,303,286	L44F	probably damaging	Het
Parg	T	C	14: 32,238,574	L82S	probably damaging	Het
Ppp2r2b	A	T	18: 42,645,809	H417Q	probably damaging	Het
Rb1cc1	T	C	1: 6,264,583	L98P	probably damaging	Het
Ryr1	C	A	7: 29,048,795	V3752L	possibly damaging	Het
Slc25a12	A	G	2: 71,279,635	L489P	probably damaging	Het
Slc38a8	C	T	8: 119,485,543	V354M	probably benign	Het
Slf2	A	G	19: 44,942,020	E512G	probably benign	Het
Tarbp1	A	G	8: 126,453,844	M597T	probably damaging	Het
Tgfb3	G	A	12: 86,069,776	R163C	probably damaging	Het
Tmco5b	A	G	2: 113,296,920	M279V	probably benign	Het
Tut1	A	G	19: 8,962,387	D245G	probably damaging	Het
Usf3	T	A	16: 44,221,226	V2023E	probably damaging	Het
Vps33a	C	T	5: 123,531,176	G554D	probably damaging	Het
Zfp27	C	A	7: 29,896,255	R95M	possibly damaging	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
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
R5555:Ttll9	UTSW	2	152990100	critical splice donor site	probably null
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

Posted On

2015-12-18