Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02477:Ttll9'

295005

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

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL02477

Quality Score

Status

Chromosome

Chromosomal Location

152962485-153008482 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 153000197 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 324 (F324I)

Ref Sequence

ENSEMBL: ENSMUSP00000099444 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099197
AA Change: F324I

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673
AA Change: F324I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103155
AA Change: F324I

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673
AA Change: F324I

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,270,746	I61F	probably benign	Het
Abr	T	C	11: 76,461,360	K280E	probably damaging	Het
Acaca	T	C	11: 84,307,168		probably benign	Het
Cep131	C	T	11: 120,070,580	V582I	probably damaging	Het
Colec12	A	G	18: 9,859,858	N613D	unknown	Het
Cyp4f39	A	G	17: 32,489,645	T389A	probably benign	Het
D630003M21Rik	T	C	2: 158,217,488	N164S	probably benign	Het
Eef1akmt2	A	T	7: 132,850,589		probably null	Het
Elp3	T	C	14: 65,563,311	T283A	probably benign	Het
Fads3	C	A	19: 10,056,442	P397Q	probably damaging	Het
Fam171a1	T	C	2: 3,202,575	V198A	possibly damaging	Het
Fam171a2	T	C	11: 102,440,028	I208M	probably benign	Het
Fbxw17	G	A	13: 50,423,817	V119M	possibly damaging	Het
Gtf2ird1	G	A	5: 134,379,978	T140M	probably damaging	Het
Hspa14	C	T	2: 3,496,624	S277N	probably damaging	Het
Hspg2	C	T	4: 137,544,512		probably benign	Het
Ing2	G	T	8: 47,669,268	R82S	possibly damaging	Het
Kat6a	A	G	8: 22,929,300	Y693C	probably damaging	Het
Kcna7	A	G	7: 45,409,623	M445V	probably benign	Het
Lifr	T	G	15: 7,186,923	I793S	probably damaging	Het
Lrrd1	T	A	5: 3,865,770	M789K	probably benign	Het
Myom3	T	A	4: 135,779,368	L484Q	probably benign	Het
Nav2	T	A	7: 49,582,875	M1860K	probably damaging	Het
Nipbl	C	T	15: 8,323,647		probably null	Het
Nsun7	T	A	5: 66,276,649	I214K	probably damaging	Het
Olfr181	T	C	16: 58,925,763	I269M	probably benign	Het
Olfr898	C	T	9: 38,349,125	S8L	probably benign	Het
Osm	T	A	11: 4,239,604	N129K	probably damaging	Het
Plce1	C	T	19: 38,719,553		probably benign	Het
Plch1	A	G	3: 63,753,293	F302L	probably damaging	Het
Pld2	T	C	11: 70,540,925	V27A	possibly damaging	Het
Prex2	A	G	1: 11,204,154	D1350G	probably benign	Het
Psme4	T	A	11: 30,842,083	V1190D	probably damaging	Het
Sema3g	G	T	14: 31,227,866	R668L	probably damaging	Het
Sprr2f	T	A	3: 92,365,897	M1K	probably null	Het
Sult6b2	G	A	6: 142,801,721	P101S	probably damaging	Het
Trem3	G	A	17: 48,249,836	V112I	probably benign	Het
Ttn	T	A	2: 76,726,760	D29967V	probably damaging	Het
Ubr4	A	G	4: 139,436,205	K2639E	probably damaging	Het
Vwce	T	C	19: 10,664,618		probably null	Het
Zbtb14	T	A	17: 69,387,695	D129E	probably benign	Het
Zmym6	C	T	4: 127,078,502	Q16*	probably null	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
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
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

Posted On

2015-04-16