Mutagenetix > Incidental Mutations

Incidental Mutation 'R5417:Ttll9'

427779

Institutional Source

Beutler Lab

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: 0.065) question?

Stock #

R5417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152962485-153008482 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 153002992 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 427 (M427L)

Ref Sequence

ENSEMBL: ENSMUSP00000099444 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000099197
AA Change: M427L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673
AA Change: M427L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000103155
AA Change: M427L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673
AA Change: M427L

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

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	A	G	15: 76,735,101	V761A	possibly damaging	Het
Ccdc47	C	T	11: 106,210,350	R162Q	probably benign	Het
Cfap65	T	C	1: 74,925,100	E563G	probably damaging	Het
Clec16a	G	A	16: 10,731,679	C872Y	probably damaging	Het
Col17a1	C	A	19: 47,662,390	G732C	probably damaging	Het
Cped1	A	G	6: 22,233,580	I812V	probably null	Het
Dennd1c	CCGCCCCTCGCTGACAGC	CC	17: 57,066,755		probably null	Het
Dgkg	A	T	16: 22,588,331	M168K	possibly damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dolpp1	T	C	2: 30,396,237	L18P	probably damaging	Het
Eif3e	A	T	15: 43,265,521	D234E	probably benign	Het
Epha6	C	A	16: 60,424,835	A334S	possibly damaging	Het
Fbxw10	G	A	11: 62,877,164	R942Q	possibly damaging	Het
Flvcr2	T	G	12: 85,747,191	F114V	probably damaging	Het
Gm14443	A	T	2: 175,170,003	C217S	probably damaging	Het
Gphb5	A	T	12: 75,412,972	V83E	possibly damaging	Het
Gpsm1	T	C	2: 26,324,033		probably null	Het
Grik4	A	G	9: 42,671,248	F134S	probably benign	Het
Ibsp	G	A	5: 104,310,469	E291K	possibly damaging	Het
Igfals	T	G	17: 24,880,316	L127R	probably damaging	Het
Igsf9b	CGGCCCCGGCCCAG	CGGCCCCGGCCCAGGCCCCGGCCCAG	9: 27,334,276		probably benign	Het
Iqcf3	T	A	9: 106,554,214	D63V	probably damaging	Het
Klc4	A	G	17: 46,632,031		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Mapk8ip2	C	A	15: 89,457,439	D284E	probably benign	Het
Muc5b	A	T	7: 141,858,044	T1576S	unknown	Het
Nlrp3	G	A	11: 59,549,063	G489S	probably damaging	Het
Nr5a1	T	A	2: 38,708,086	Q233L	possibly damaging	Het
Nusap1	G	A	2: 119,647,143	V345I	probably damaging	Het
Olfr1301	A	G	2: 111,754,920	T224A	possibly damaging	Het
Olfr1494	A	G	19: 13,749,853	H249R	probably benign	Het
Olfr612	A	T	7: 103,538,763	V157E	possibly damaging	Het
Oxr1	A	G	15: 41,820,371	T378A	probably benign	Het
Pcdhb12	T	C	18: 37,436,034	F78L	probably benign	Het
Pgm2l1	A	T	7: 100,272,376	I605L	probably benign	Het
Pik3c2g	A	G	6: 139,736,943	I17V	probably benign	Het
Prss39	A	G	1: 34,500,128	S150G	probably benign	Het
Scara5	CG	C	14: 65,759,662		probably null	Het
Scg3	T	A	9: 75,669,256	Y279F	probably benign	Het
Skiv2l	C	T	17: 34,846,598	V327I	probably damaging	Het
Srfbp1	T	C	18: 52,488,625	C253R	probably benign	Het
Tcirg1	C	T	19: 3,903,509		probably null	Het
Trim37	A	G	11: 87,166,679	Y313C	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Tubgcp5	A	G	7: 55,825,661	R932G	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
IGL02899:Ttll9	APN	2	153002951	missense	probably damaging	0.99
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
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
R7945:Ttll9	UTSW	2	153006975	missense	probably benign	0.00
R7998:Ttll9	UTSW	2	152991626	missense	possibly damaging	0.55
R8041:Ttll9	UTSW	2	153003036	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- CAGATCTGCCACTTGGTTTTG -3'
(R):5'- TCTCACTATAACAGGCAGGGTC -3'

Sequencing Primer
(F):5'- GGTGGGACAGGTCTTTGAGCC -3'
(R):5'- CCAGGAGTATCCAACCGTTTGATG -3'

Posted On

2016-09-01