Mutagenetix > Incidental Mutations

Incidental Mutation 'R7998:Ttll9'

616174

Institutional Source

Beutler Lab

Gene Symbol

Ttll9

Ensembl Gene

ENSMUSG00000074673

Gene Name

tubulin tyrosine ligase-like family, member 9

Synonyms

4930509O20Rik, 1700016F23Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152962485-153008482 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152991626 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 215 (Y215H)

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: Y215H

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673
AA Change: Y215H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103155
AA Change: Y215H

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673
AA Change: Y215H

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 damaging
Transcript: ENSMUST00000109801
AA Change: Y190H

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105426
Gene: ENSMUSG00000074673
AA Change: Y190H

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

Predicted Effect

silent
Transcript: ENSMUST00000165343

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 36,096,692	R216C	probably benign	Het
Acsl3	C	T	1: 78,694,271	P294L	probably damaging	Het
Alox12b	T	C	11: 69,168,837	Y572H	probably damaging	Het
Arid1b	A	G	17: 5,327,684	D1236G	probably damaging	Het
Astl	T	C	2: 127,350,499	L254P	probably damaging	Het
Btbd7	A	C	12: 102,795,240	L562R	probably damaging	Het
Ccdc58	T	A	16: 36,085,033	V65D	probably benign	Het
Chl1	T	C	6: 103,729,289	V1195A	probably benign	Het
Cib1	A	T	7: 80,228,414	Y105*	probably null	Het
Cog3	G	T	14: 75,747,093	S94Y	possibly damaging	Het
Cpne6	A	C	14: 55,516,294	Q403P	probably damaging	Het
Csn1s1	A	G	5: 87,674,228	N119S	possibly damaging	Het
Cux2	T	C	5: 121,868,585	D874G	possibly damaging	Het
Dicer1	A	T	12: 104,704,069	F1079Y	probably damaging	Het
Dsc2	T	A	18: 20,034,663	Q724H	possibly damaging	Het
Fam96b	T	A	8: 104,641,036	S94C	probably damaging	Het
Fbxw16	A	G	9: 109,436,698	V351A	probably damaging	Het
G2e3	A	T	12: 51,353,841	E59D	probably benign	Het
Gm10800	A	AC	2: 98,667,033		probably null	Het
Gm10837	G	T	14: 122,490,641		probably benign	Het
Gm14085	T	C	2: 122,494,358	L137P	probably damaging	Het
Gpr137b	T	C	13: 13,359,406	Y355C	probably damaging	Het
Gpr18	T	C	14: 121,911,981	I211V	probably benign	Het
Gstm7	T	A	3: 107,930,341	D98V	probably damaging	Het
Hspa8	A	G	9: 40,804,514	Y525C	probably damaging	Het
Itga7	T	C	10: 128,934,151	S55P	probably damaging	Het
Itpr1	T	C	6: 108,417,948	V1674A	possibly damaging	Het
Itsn1	G	T	16: 91,850,936	G893C	unknown	Het
Kcnc1	A	G	7: 46,397,799	D41G	probably benign	Het
Larp6	A	G	9: 60,724,355	K137E	probably damaging	Het
Leo1	G	T	9: 75,445,276	G34C	probably benign	Het
Map4	G	A	9: 110,079,861	V1050M	probably damaging	Het
Mast3	A	G	8: 70,783,570	V722A	probably benign	Het
Med28	T	A	5: 45,525,199	V69D	probably damaging	Het
Mier1	T	C	4: 103,162,615	F512S	probably benign	Het
Mov10l1	T	A	15: 89,053,439	V1147E	probably damaging	Het
Mroh7	T	C	4: 106,711,281	E409G	probably benign	Het
Muc16	G	T	9: 18,639,892	P5035Q	probably benign	Het
Nemp1	C	A	10: 127,693,489	S213R	probably damaging	Het
Npffr2	T	C	5: 89,583,290	Y360H	probably damaging	Het
Nrxn2	T	C	19: 6,509,875	V1221A	probably damaging	Het
Nup107	A	G	10: 117,757,994	F765L	probably damaging	Het
Nup188	T	C	2: 30,330,971	L991P	probably damaging	Het
Olfr205	T	A	16: 59,329,270	M80L	probably benign	Het
Olfr275	A	T	4: 52,825,970	D191V	possibly damaging	Het
Pla2g7	A	T	17: 43,611,318	I363L	probably benign	Het
Ppp2r1a	T	C	17: 20,961,639	F473S	possibly damaging	Het
Prex1	A	G	2: 166,587,045		probably null	Het
Ptov1	A	G	7: 44,864,929	V263A	probably damaging	Het
Reg3a	T	C	6: 78,381,149	V21A	probably benign	Het
Sdk2	T	A	11: 113,859,938	I550F	probably benign	Het
Shprh	T	A	10: 11,185,341	W1133R	probably damaging	Het
Syne2	T	C	12: 76,087,858	V1297A	probably damaging	Het
Themis2	A	G	4: 132,792,564	I50T	probably damaging	Het
Tmprss15	C	A	16: 79,001,843	L650F	possibly damaging	Het
Ttc41	C	A	10: 86,736,847	N694K	probably benign	Het
Ttn	C	A	2: 76,903,309	V4541L	unknown	Het
Usp32	G	T	11: 84,994,426	A1265E	probably damaging	Het
Vcan	T	A	13: 89,704,327	D838V	probably damaging	Het
Vmn2r88	T	C	14: 51,414,108	I293T		Het
Wdr36	T	G	18: 32,852,519	D496E	probably damaging	Het
Wrn	T	C	8: 33,292,643	N753S	probably benign	Het
Zmat3	T	C	3: 32,341,666	R231G	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
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
R8041:Ttll9	UTSW	2	153003036	missense	possibly damaging	0.62
R8367:Ttll9	UTSW	2	152994148	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAAATGCCAATGTCCACATGTG -3'
(R):5'- GCAGAGTCACAGCTACAGGTAG -3'

Sequencing Primer
(F):5'- TAGGCTCTGGGATCGAACTAC -3'
(R):5'- TCACAGCTACAGGTAGGAGCATAG -3'

Posted On

2020-01-23