Mutagenetix > Incidental Mutation

Incidental Mutation 'R0689:Ttll9'

61265

Institutional Source

Beutler Lab

Gene Symbol

Ttll9

Ensembl Gene

ENSMUSG00000074673

Gene Name

tubulin tyrosine ligase-like family, member 9

Synonyms

4930509O20Rik, 1700016F23Rik

MMRRC Submission

038874-MU

Accession Numbers

Essential gene?

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

Stock #

R0689 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

152962485-153008482 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 152983127 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 75 (D75E)

Ref Sequence

ENSEMBL: ENSMUSP00000122494 (fasta)

Gene Model

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

AlphaFold

A2APC3

Predicted Effect

probably benign
Transcript: ENSMUST00000099197
AA Change: D75E

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

SMART Domains

Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673
AA Change: D75E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000103155
AA Change: D75E

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

SMART Domains

Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673
AA Change: D75E

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: D75E

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

SMART Domains

Protein: ENSMUSP00000105426
Gene: ENSMUSG00000074673
AA Change: D75E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146626

Predicted Effect

probably benign
Transcript: ENSMUST00000152158
AA Change: D75E

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000155631
AA Change: D64E

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

SMART Domains

Protein: ENSMUSP00000114786
Gene: ENSMUSG00000074673
AA Change: D64E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000165343

Meta Mutation Damage Score

0.1271

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.4%
20x: 91.1%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	C	A	7: 28,897,049	G674W	probably damaging	Het
Adcy9	A	G	16: 4,312,804		probably benign	Het
Adgrv1	C	T	13: 81,475,105	V3800I	possibly damaging	Het
Agl	A	G	3: 116,793,628	Y93H	probably damaging	Het
Aldh1a3	T	A	7: 66,402,005	D400V	probably benign	Het
Bpifc	A	G	10: 85,960,547		probably benign	Het
Cachd1	G	T	4: 100,974,876	R745L	probably damaging	Het
Cadm3	T	A	1: 173,344,452	T185S	possibly damaging	Het
Cep85l	G	T	10: 53,348,847	D215E	probably damaging	Het
Ces1g	A	G	8: 93,328,407	S221P	probably damaging	Het
Cfap206	C	T	4: 34,722,668	V138M	probably benign	Het
Csmd3	A	T	15: 47,756,025	F1714I	probably benign	Het
Cyp4f18	A	G	8: 71,995,968	L279P	probably benign	Het
Dnah7a	G	A	1: 53,620,681	Q723*	probably null	Het
Dnaja2	A	G	8: 85,546,718		probably benign	Het
Dnajc6	T	C	4: 101,611,253	V162A	possibly damaging	Het
Dok4	T	C	8: 94,870,919	T3A	probably benign	Het
Efcab7	T	C	4: 99,904,784	W424R	probably damaging	Het
Fah	A	T	7: 84,593,184		probably null	Het
Fam120a	T	C	13: 48,967,638	D64G	probably damaging	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gas8	T	G	8: 123,524,106	L106R	probably damaging	Het
Gykl1	T	G	18: 52,694,051	N110K	possibly damaging	Het
Hsd3b3	G	T	3: 98,741,979	L343I	possibly damaging	Het
Itch	T	A	2: 155,182,178	S234T	possibly damaging	Het
Itgbl1	A	T	14: 123,827,847	I61F	possibly damaging	Het
Klf6	T	A	13: 5,865,116	S185T	probably damaging	Het
Klk1b1	A	C	7: 43,970,719	K202T	probably benign	Het
Liph	T	C	16: 21,968,068	Y268C	probably damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Myo9b	G	A	8: 71,330,756	D574N	probably damaging	Het
Nfyb	G	A	10: 82,755,002	A65V	possibly damaging	Het
Nipbl	A	G	15: 8,293,078		probably null	Het
Olfm3	T	A	3: 115,122,545	N355K	probably benign	Het
Olfr726	A	T	14: 50,084,232	F150I	probably benign	Het
Pcdhb21	A	G	18: 37,515,317	T500A	probably benign	Het
Pclo	A	G	5: 14,714,019	I4169V	unknown	Het
Pde4d	T	C	13: 109,740,544	S144P	possibly damaging	Het
Pgghg	T	C	7: 140,943,278	Y157H	probably benign	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pla2g12a	T	C	3: 129,881,298		probably null	Het
Ppp1r14d	T	C	2: 119,229,612	D63G	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Sgip1	A	T	4: 102,966,252	D690V	probably damaging	Het
Skp1a	T	C	11: 52,243,765		probably benign	Het
Slc25a12	T	C	2: 71,311,493	Y272C	possibly damaging	Het
Slc37a2	A	G	9: 37,235,550		probably benign	Het
Snx6	A	T	12: 54,763,656	S112T	probably benign	Het
Sox6	A	G	7: 115,486,551	V685A	probably damaging	Het
Taf2	A	T	15: 55,063,065	V163E	possibly damaging	Het
Tg	A	T	15: 66,839,404		probably benign	Het
Tmem30c	A	G	16: 57,270,173	Y224H	probably damaging	Het
Tmem45b	T	C	9: 31,428,583	N173D	probably benign	Het
Traf5	T	C	1: 191,997,876	T405A	probably benign	Het
Trerf1	C	T	17: 47,319,374		noncoding transcript	Het
Triobp	A	T	15: 78,959,988	K135*	probably null	Het
Vmn1r63	T	C	7: 5,803,610	I8V	probably benign	Het
Vmn2r77	A	T	7: 86,811,664	I733F	probably damaging	Het
Vmn2r98	T	C	17: 19,080,520	S595P	possibly damaging	Het
Zcchc2	C	T	1: 106,030,504	Q504*	probably null	Het
Zfp2	T	C	11: 50,900,907	D103G	probably benign	Het
Zfp59	A	G	7: 27,853,717	K198R	probably benign	Het
Zfp64	C	A	2: 168,935,201		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
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

Predicted Primers

PCR Primer
(F):5'- TGGAACAGGGGTGATCAGTCTATTGAG -3'
(R):5'- TGGGAATACCTGAACCCTAGAAAAGCC -3'

Sequencing Primer
(F):5'- CAGTCTATTGAGAAGGCACTCTG -3'
(R):5'- gccgttatctgctatgccatc -3'

Posted On

2013-07-30