Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01751:Ttll9'

153133

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: 0.060) question?

Stock #

IGL01751

Quality Score

Status

Chromosome

Chromosomal Location

152962485-153008482 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 152983105 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 68 (N68I)

Ref Sequence

ENSEMBL: ENSMUSP00000122494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099197] [ENSMUST00000103155] [ENSMUST00000109801] [ENSMUST00000146626] [ENSMUST00000152158] [ENSMUST00000155631] [ENSMUST00000165343]

Predicted Effect

probably benign
Transcript: ENSMUST00000099197
AA Change: N68I

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673
AA Change: N68I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000103155
AA Change: N68I

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673
AA Change: N68I

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
AA Change: N68I

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105426
Gene: ENSMUSG00000074673
AA Change: N68I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146626

Predicted Effect

probably damaging
Transcript: ENSMUST00000152158
AA Change: N68I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000155631
AA Change: N57I

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114786
Gene: ENSMUSG00000074673
AA Change: N57I

Domain	Start	End	E-Value	Type
Pfam:TTL	57	139	3.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165343

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,930,588	H174L	possibly damaging	Het
1700018F24Rik	A	G	5: 145,043,171		probably null	Het
Auts2	G	T	5: 131,472,360	Q72K	probably damaging	Het
Btbd11	C	A	10: 85,654,502	Q1011K	probably damaging	Het
Ccdc7b	A	T	8: 129,136,568		probably benign	Het
Frem3	A	G	8: 80,615,743	E1555G	probably benign	Het
Gm1966	T	A	7: 106,602,309	N576I	possibly damaging	Het
Gm5263	T	G	1: 146,420,564		noncoding transcript	Het
Gm5828	A	G	1: 16,769,984		noncoding transcript	Het
Gm6605	T	C	7: 38,448,206		noncoding transcript	Het
Hps3	T	C	3: 20,010,966	D638G	probably damaging	Het
Igdcc4	A	T	9: 65,131,732	N887I	probably damaging	Het
Itpkc	G	A	7: 27,213,066		probably benign	Het
Mfge8	A	G	7: 79,136,655		probably null	Het
Mrc2	G	T	11: 105,325,734	L116F	probably benign	Het
Necab1	T	C	4: 14,978,171	D226G	probably damaging	Het
Neurod2	T	C	11: 98,327,375	E321G	possibly damaging	Het
Obp2b	G	T	2: 25,737,748	V59L	possibly damaging	Het
Olfr1173	A	T	2: 88,274,633	C139S	possibly damaging	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr292	A	T	7: 86,694,789	Q111L	probably benign	Het
Olfr912	C	T	9: 38,581,513	P79S	probably damaging	Het
Olr1	T	C	6: 129,488,848	N65S	possibly damaging	Het
Rock1	A	G	18: 10,079,113		probably null	Het
Scn3a	T	A	2: 65,461,252	M1717L	possibly damaging	Het
Smg7	T	C	1: 152,844,061	D903G	possibly damaging	Het
Tlr1	A	T	5: 64,925,947	L429*	probably null	Het
Ttn	A	G	2: 76,737,599	V25904A	possibly damaging	Het
Uaca	G	A	9: 60,869,857	V507M	probably damaging	Het
Vmn1r195	G	T	13: 22,279,251	C297F	probably benign	Het
Zdhhc2	G	A	8: 40,473,001	A346T	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
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
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

2014-02-04