Mutagenetix > Incidental Mutation

Incidental Mutation 'R0116:Ttll9'

20776

Institutional Source

Beutler Lab

Gene Symbol

Ttll9

Ensembl Gene

ENSMUSG00000074673

Gene Name

tubulin tyrosine ligase-like family, member 9

Synonyms

4930509O20Rik, 1700016F23Rik

MMRRC Submission

038402-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R0116 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

152962485-153008482 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 152983134 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 78 (V78M)

Ref Sequence

ENSEMBL: ENSMUSP00000122494 (fasta)

Gene Model

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

AlphaFold

A2APC3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099197
AA Change: V78M

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673
AA Change: V78M

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103155
AA Change: V78M

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673
AA Change: V78M

Domain	Start	End	E-Value	Type
Pfam:TTL	67	397	5.3e-88	PFAM
low complexity region	452	461	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109801
AA Change: V78M

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105426
Gene: ENSMUSG00000074673
AA Change: V78M

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: V78M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155631
AA Change: V67M

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114786
Gene: ENSMUSG00000074673
AA Change: V67M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000165343

Meta Mutation Damage Score

0.2659

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

94% (95/101)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	T	9: 15,290,770 (GRCm38)	V152E	probably damaging	Het
Abca5	T	G	11: 110,276,505 (GRCm38)	E1495A	probably damaging	Het
Abcc12	G	A	8: 86,534,998 (GRCm38)	S668F	probably benign	Het
Adgrl4	A	T	3: 151,517,610 (GRCm38)	T608S	probably benign	Het
Angel2	G	A	1: 190,940,990 (GRCm38)	D255N	probably benign	Het
Apob	T	A	12: 7,989,113 (GRCm38)		probably benign	Het
Arfgef2	A	T	2: 166,873,683 (GRCm38)	R1349S	probably damaging	Het
Atp2b2	C	T	6: 113,793,695 (GRCm38)	V418I	probably damaging	Het
Birc6	C	A	17: 74,623,746 (GRCm38)		probably benign	Het
Capn13	T	A	17: 73,351,524 (GRCm38)	Y183F	probably damaging	Het
Cngb1	A	G	8: 95,260,638 (GRCm38)	S352P	probably damaging	Het
Col6a3	A	G	1: 90,813,551 (GRCm38)	S720P	probably damaging	Het
Cpa4	C	T	6: 30,579,658 (GRCm38)	R155W	probably damaging	Het
Dapk1	A	G	13: 60,761,100 (GRCm38)	I1176V	probably benign	Het
Dnah17	T	C	11: 118,058,306 (GRCm38)	E2959G	probably benign	Het
Dnah7b	T	A	1: 46,213,360 (GRCm38)	I1734N	possibly damaging	Het
Dnajb7	A	G	15: 81,407,354 (GRCm38)	Y261H	probably benign	Het
Dock2	T	C	11: 34,688,565 (GRCm38)		probably benign	Het
Dyrk3	A	T	1: 131,129,839 (GRCm38)	V199E	probably damaging	Het
F2r	G	T	13: 95,604,486 (GRCm38)	C180*	probably null	Het
F5	A	G	1: 164,184,914 (GRCm38)	S466G	probably benign	Het
Fbn2	A	T	18: 58,102,373 (GRCm38)	C677*	probably null	Het
Fbxo41	A	G	6: 85,477,908 (GRCm38)	S673P	probably damaging	Het
Fhad1	G	T	4: 141,940,095 (GRCm38)	H639N	probably benign	Het
Fmnl3	G	C	15: 99,322,738 (GRCm38)		probably benign	Het
Foxa2	A	G	2: 148,043,561 (GRCm38)	S270P	probably damaging	Het
Fxyd7	C	T	7: 31,047,368 (GRCm38)		probably null	Het
Gm5225	A	G	17: 24,024,058 (GRCm38)	D67G	probably benign	Het
Grik3	G	A	4: 125,670,556 (GRCm38)	E444K	probably benign	Het
Gsdma2	A	G	11: 98,649,183 (GRCm38)	K44E	probably damaging	Het
Haus1	T	A	18: 77,762,070 (GRCm38)	K130*	probably null	Het
Heg1	A	G	16: 33,735,658 (GRCm38)		probably benign	Het
Hormad2	A	G	11: 4,412,206 (GRCm38)		probably benign	Het
Hsd17b3	G	A	13: 64,058,589 (GRCm38)	R300C	possibly damaging	Het
Irf5	T	C	6: 29,536,109 (GRCm38)	F374S	probably damaging	Het
Itch	A	G	2: 155,217,983 (GRCm38)		probably benign	Het
Jade2	A	T	11: 51,831,309 (GRCm38)	L139Q	probably damaging	Het
Kif5c	G	A	2: 49,752,239 (GRCm38)		probably benign	Het
Lama1	T	C	17: 67,776,923 (GRCm38)	Y1387H	probably benign	Het
Larp4b	A	G	13: 9,170,688 (GRCm38)	R658G	probably damaging	Het
Mcph1	C	T	8: 18,788,248 (GRCm38)	L729F	probably benign	Het
Me1	A	T	9: 86,654,667 (GRCm38)	N118K	probably benign	Het
Med13	A	G	11: 86,319,897 (GRCm38)	L473S	probably damaging	Het
Mgam	T	A	6: 40,658,987 (GRCm38)	Y359N	probably damaging	Het
Morc2b	A	G	17: 33,137,041 (GRCm38)	S586P	probably damaging	Het
Mthfr	A	G	4: 148,051,523 (GRCm38)	D310G	probably benign	Het
Mtmr7	A	T	8: 40,581,405 (GRCm38)		probably benign	Het
Mtus1	A	G	8: 40,998,477 (GRCm38)		probably benign	Het
Mus81	G	T	19: 5,486,524 (GRCm38)	A138D	probably damaging	Het
Myom2	A	T	8: 15,117,633 (GRCm38)	I1073F	probably damaging	Het
Nhsl1	A	T	10: 18,525,242 (GRCm38)	K739*	probably null	Het
Nlrp4d	T	A	7: 10,374,891 (GRCm38)	K762N	probably benign	Het
Nrap	T	C	19: 56,355,546 (GRCm38)	Y724C	probably damaging	Het
Ogn	A	T	13: 49,621,038 (GRCm38)	Y219F	possibly damaging	Het
Or6c212	T	A	10: 129,722,977 (GRCm38)	D189V	probably damaging	Het
Or8b56	T	C	9: 38,828,564 (GRCm38)	L291P	probably damaging	Het
Or8g30	A	T	9: 39,318,864 (GRCm38)	I250N	probably damaging	Het
Padi2	T	C	4: 140,926,239 (GRCm38)	V180A	probably benign	Het
Papss2	C	T	19: 32,638,368 (GRCm38)	R167*	probably null	Het
Pcbp2	T	C	15: 102,474,235 (GRCm38)		probably benign	Het
Per1	T	A	11: 69,101,880 (GRCm38)		probably benign	Het
Pik3ca	T	C	3: 32,459,945 (GRCm38)	I860T	probably damaging	Het
Pkdrej	G	A	15: 85,817,545 (GRCm38)	Q1397*	probably null	Het
Plce1	T	C	19: 38,721,821 (GRCm38)	V1133A	probably benign	Het
Pnma8a	T	G	7: 16,960,700 (GRCm38)	V160G	probably damaging	Het
Prss12	T	C	3: 123,482,774 (GRCm38)	C351R	probably damaging	Het
Qprt	A	T	7: 127,109,097 (GRCm38)	L54Q	probably damaging	Het
Raf1	C	T	6: 115,626,383 (GRCm38)	S165N	probably damaging	Het
Rere	A	G	4: 150,616,976 (GRCm38)	N1271S	probably benign	Het
Rnasel	T	A	1: 153,754,512 (GRCm38)	L258H	probably damaging	Het
Ryr2	T	C	13: 11,709,921 (GRCm38)	D2502G	probably damaging	Het
Ryr3	G	A	2: 112,803,165 (GRCm38)	S2081L	probably damaging	Het
Sc5d	G	T	9: 42,259,859 (GRCm38)	Y11*	probably null	Het
Slc25a29	A	C	12: 108,827,091 (GRCm38)	L187R	possibly damaging	Het
Slc2a7	G	A	4: 150,168,264 (GRCm38)	V454M	probably benign	Het
Slco1b2	A	T	6: 141,669,388 (GRCm38)	T340S	probably benign	Het
Smarcc1	A	G	9: 110,147,104 (GRCm38)	N153S	possibly damaging	Het
Snx1	C	A	9: 66,088,539 (GRCm38)	E516*	probably null	Het
Sptlc2	T	C	12: 87,356,680 (GRCm38)	D115G	probably benign	Het
Stard9	A	G	2: 120,634,255 (GRCm38)	N67S	probably damaging	Het
Styxl2	A	C	1: 166,099,701 (GRCm38)	S781A	probably benign	Het
Swap70	G	A	7: 110,273,282 (GRCm38)	R368H	probably benign	Het
Tcaf3	T	C	6: 42,591,350 (GRCm38)	K691E	probably benign	Het
Tmco4	T	C	4: 139,053,920 (GRCm38)	F465S	probably damaging	Het
Tmem245	A	G	4: 56,926,213 (GRCm38)	S290P	probably benign	Het
Top2a	T	C	11: 99,003,590 (GRCm38)	T972A	probably benign	Het
Tpr	T	A	1: 150,410,147 (GRCm38)	S527R	probably damaging	Het
Traf2	T	C	2: 25,519,609 (GRCm38)	D443G	probably damaging	Het
Trim40	A	T	17: 36,883,147 (GRCm38)		probably null	Het
Trim42	A	T	9: 97,363,403 (GRCm38)	I448N	possibly damaging	Het
Vav1	C	T	17: 57,296,039 (GRCm38)	L88F	probably damaging	Het
Vps13b	A	G	15: 35,423,155 (GRCm38)	D207G	probably damaging	Het
Wdsub1	A	G	2: 59,876,665 (GRCm38)		probably null	Het
Zfp799	A	G	17: 32,821,035 (GRCm38)	W85R	possibly damaging	Het
Zfp839	A	T	12: 110,858,769 (GRCm38)		probably benign	Het

Other mutations in Ttll9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00714:Ttll9	APN	2	152,984,260 (GRCm38)	missense	probably damaging	0.99
IGL01107:Ttll9	APN	2	153,002,889 (GRCm38)	splice site	probably benign
IGL01365:Ttll9	APN	2	153,000,134 (GRCm38)	missense	possibly damaging	0.87
IGL01751:Ttll9	APN	2	152,983,105 (GRCm38)	missense	probably damaging	0.99
IGL02264:Ttll9	APN	2	153,000,135 (GRCm38)	missense	probably damaging	1.00
IGL02477:Ttll9	APN	2	153,000,197 (GRCm38)	missense	possibly damaging	0.77
IGL02899:Ttll9	APN	2	153,002,951 (GRCm38)	missense	probably damaging	0.99
BB001:Ttll9	UTSW	2	152,962,487 (GRCm38)	unclassified	probably benign
BB011:Ttll9	UTSW	2	152,962,487 (GRCm38)	unclassified	probably benign
I2288:Ttll9	UTSW	2	152,972,339 (GRCm38)	splice site	probably benign
R0053:Ttll9	UTSW	2	152,962,506 (GRCm38)	utr 5 prime	probably benign
R0319:Ttll9	UTSW	2	153,000,098 (GRCm38)	splice site	probably null
R0388:Ttll9	UTSW	2	153,000,179 (GRCm38)	missense	probably benign
R0556:Ttll9	UTSW	2	152,973,606 (GRCm38)	critical splice donor site	probably null
R0689:Ttll9	UTSW	2	152,983,127 (GRCm38)	missense	probably benign	0.05
R1829:Ttll9	UTSW	2	153,000,236 (GRCm38)	missense	possibly damaging	0.61
R2016:Ttll9	UTSW	2	153,002,294 (GRCm38)	missense	probably damaging	1.00
R2144:Ttll9	UTSW	2	153,003,007 (GRCm38)	missense	probably benign
R2229:Ttll9	UTSW	2	152,983,063 (GRCm38)	missense	probably damaging	0.98
R2309:Ttll9	UTSW	2	152,984,145 (GRCm38)	missense	probably damaging	1.00
R2314:Ttll9	UTSW	2	152,983,127 (GRCm38)	missense	probably benign	0.05
R4191:Ttll9	UTSW	2	153,003,007 (GRCm38)	missense	probably benign
R4539:Ttll9	UTSW	2	152,994,091 (GRCm38)	missense	probably damaging	1.00
R4866:Ttll9	UTSW	2	153,003,000 (GRCm38)	missense	probably benign	0.02
R5115:Ttll9	UTSW	2	152,989,590 (GRCm38)	intron	probably benign
R5279:Ttll9	UTSW	2	152,962,544 (GRCm38)	missense	possibly damaging	0.80
R5342:Ttll9	UTSW	2	152,991,652 (GRCm38)	missense	possibly damaging	0.87
R5375:Ttll9	UTSW	2	152,984,224 (GRCm38)	missense	probably benign	0.13
R5417:Ttll9	UTSW	2	153,002,992 (GRCm38)	missense	probably benign
R5555:Ttll9	UTSW	2	152,990,100 (GRCm38)	critical splice donor site	probably null
R5574:Ttll9	UTSW	2	152,984,248 (GRCm38)	missense	possibly damaging	0.90
R5598:Ttll9	UTSW	2	152,984,314 (GRCm38)	missense	probably damaging	1.00
R5613:Ttll9	UTSW	2	152,973,601 (GRCm38)	frame shift	probably null
R6366:Ttll9	UTSW	2	152,991,605 (GRCm38)	missense	probably damaging	0.99
R6409:Ttll9	UTSW	2	152,999,341 (GRCm38)	missense	probably damaging	1.00
R6655:Ttll9	UTSW	2	153,000,303 (GRCm38)	splice site	probably null
R6657:Ttll9	UTSW	2	152,984,262 (GRCm38)	missense	probably damaging	1.00
R6766:Ttll9	UTSW	2	152,999,300 (GRCm38)	nonsense	probably null
R7012:Ttll9	UTSW	2	153,003,062 (GRCm38)	missense	possibly damaging	0.46
R7162:Ttll9	UTSW	2	152,989,603 (GRCm38)	missense	probably damaging	0.99
R7804:Ttll9	UTSW	2	153,002,358 (GRCm38)	critical splice donor site	probably null
R7862:Ttll9	UTSW	2	153,006,975 (GRCm38)	missense	probably benign	0.00
R7924:Ttll9	UTSW	2	152,962,487 (GRCm38)	unclassified	probably benign
R7998:Ttll9	UTSW	2	152,991,626 (GRCm38)	missense	possibly damaging	0.55
R8041:Ttll9	UTSW	2	153,003,036 (GRCm38)	missense	possibly damaging	0.62
R8367:Ttll9	UTSW	2	152,994,148 (GRCm38)	missense	probably benign
R8897:Ttll9	UTSW	2	153,002,921 (GRCm38)	missense	probably damaging	0.99
R9061:Ttll9	UTSW	2	152,976,193 (GRCm38)	missense	possibly damaging	0.46
R9667:Ttll9	UTSW	2	152,990,069 (GRCm38)	nonsense	probably null
R9716:Ttll9	UTSW	2	152,976,216 (GRCm38)	missense	probably benign	0.00
R9780:Ttll9	UTSW	2	152,994,103 (GRCm38)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GCCCTGCACCTTAGGAAGTAGTTG -3'
(R):5'- GGCCTGGAAACAAAAGCCGTTATC -3'

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

Posted On

2013-04-11