Mutagenetix > Incidental Mutation

Incidental Mutation 'R1470:Ttll5'

197993

Institutional Source

Beutler Lab

Gene Symbol

Ttll5

Ensembl Gene

ENSMUSG00000012609

Gene Name

tubulin tyrosine ligase-like family, member 5

Synonyms

STAMP

MMRRC Submission

039523-MU

Accession Numbers

Genbank: NM_001081423

Is this an essential gene?

Possibly non essential (E-score: 0.479) question?

Stock #

R1470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85824659-86061893 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85879394 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 321 (I321V)

Ref Sequence

ENSEMBL: ENSMUSP00000039939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040179] [ENSMUST00000040273] [ENSMUST00000095536] [ENSMUST00000110220] [ENSMUST00000110224] [ENSMUST00000155448] [ENSMUST00000176695] [ENSMUST00000177114]

AlphaFold

Q8CHB8

Predicted Effect

probably benign
Transcript: ENSMUST00000040179
AA Change: I321V

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000048809
Gene: ENSMUSG00000012609
AA Change: I321V

Domain	Start	End	E-Value	Type
Pfam:TTL	110	407	1.9e-94	PFAM
low complexity region	556	575	N/A	INTRINSIC
low complexity region	595	621	N/A	INTRINSIC
low complexity region	747	761	N/A	INTRINSIC
low complexity region	781	793	N/A	INTRINSIC
low complexity region	835	847	N/A	INTRINSIC
low complexity region	1167	1181	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040273
AA Change: I321V

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000039939
Gene: ENSMUSG00000012609
AA Change: I321V

Domain	Start	End	E-Value	Type
Pfam:TTL	110	407	1e-94	PFAM
low complexity region	556	575	N/A	INTRINSIC
low complexity region	595	621	N/A	INTRINSIC
low complexity region	747	761	N/A	INTRINSIC
low complexity region	781	793	N/A	INTRINSIC
low complexity region	835	847	N/A	INTRINSIC
low complexity region	1167	1181	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095536
AA Change: I321V

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000093192
Gene: ENSMUSG00000012609
AA Change: I321V

Domain	Start	End	E-Value	Type
Pfam:TTL	110	407	2.2e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110220
AA Change: I321V

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

SMART Domains

Protein: ENSMUSP00000105849
Gene: ENSMUSG00000012609
AA Change: I321V

Domain	Start	End	E-Value	Type
Pfam:TTL	110	348	3.5e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110224
AA Change: I321V

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105853
Gene: ENSMUSG00000012609
AA Change: I321V

Domain	Start	End	E-Value	Type
Pfam:TTL	110	407	1e-94	PFAM
low complexity region	543	562	N/A	INTRINSIC
low complexity region	582	608	N/A	INTRINSIC
low complexity region	734	748	N/A	INTRINSIC
low complexity region	768	780	N/A	INTRINSIC
low complexity region	822	834	N/A	INTRINSIC
low complexity region	1153	1167	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155448
AA Change: I321V

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134971
Gene: ENSMUSG00000012609
AA Change: I321V

Domain	Start	End	E-Value	Type
Pfam:TTL	110	407	6.4e-95	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175899

Predicted Effect

probably benign
Transcript: ENSMUST00000176695
AA Change: I321V

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

SMART Domains

Protein: ENSMUSP00000135852
Gene: ENSMUSG00000012609
AA Change: I321V

Domain	Start	End	E-Value	Type
Pfam:TTL	110	407	2.1e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177114
AA Change: I321V

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

SMART Domains

Protein: ENSMUSP00000135395
Gene: ENSMUSG00000012609
AA Change: I321V

Domain	Start	End	E-Value	Type
Pfam:TTL	110	407	2.1e-95	PFAM

Meta Mutation Damage Score

0.1525

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

97% (125/129)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit male infertility associated with abnormal sperm morphology and reduced tubulin polyglutamylation in the spermatozoa. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, other(3) Gene trapped(4)

Other mutations in this stock

Total: 142 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415O20Rik	T	C	15: 98,585,261		probably benign	Het
4932438A13Rik	T	C	3: 36,998,331	M3060T	probably benign	Het
Aak1	T	A	6: 86,967,355	S749T	unknown	Het
Abcb4	A	T	5: 8,940,968	I843F	probably damaging	Het
Abcb6	A	T	1: 75,172,679		probably benign	Het
AC161516.2	G	T	5: 67,946,397		probably benign	Het
AC238840.1	A	T	7: 38,767,953		noncoding transcript	Het
Actr8	T	A	14: 29,986,969	H244Q	possibly damaging	Het
Acyp2	A	G	11: 30,506,452		probably benign	Het
Adgrv1	A	G	13: 81,382,298	Y5886H	probably benign	Het
Afap1	C	T	5: 35,961,737		probably benign	Het
Agk	T	A	6: 40,386,817	W244R	probably damaging	Het
Akirin1	T	A	4: 123,738,090		probably benign	Het
Ankrd11	C	A	8: 122,899,724	V161L	probably damaging	Het
Arap3	T	C	18: 37,989,196		probably null	Het
Arhgap29	A	G	3: 121,992,319		probably benign	Het
Armc3	A	G	2: 19,238,736	M88V	probably benign	Het
Atp13a5	G	T	16: 29,349,015	P109T	probably benign	Het
Avpr1b	T	A	1: 131,600,585	V282D	probably damaging	Het
Baz2b	T	C	2: 59,978,546	K120E	possibly damaging	Het
Cacna1a	T	A	8: 84,514,950		probably benign	Het
Cacng6	G	A	7: 3,424,888	C76Y	probably damaging	Het
Cactin	G	T	10: 81,323,151	E279*	probably null	Het
Car9	A	G	4: 43,510,222	Y268C	probably damaging	Het
Ccdc146	T	A	5: 21,319,566	I263F	probably damaging	Het
Cdc16	A	T	8: 13,758,992		probably benign	Het
Cdh16	T	G	8: 104,618,371	S429R	probably benign	Het
Cep250	A	G	2: 155,991,075	E1639G	probably damaging	Het
Ces1d	A	T	8: 93,195,021	V38D	possibly damaging	Het
Chd1	A	T	17: 15,726,283	Q97L	possibly damaging	Het
Ciita	G	A	16: 10,514,468	D898N	possibly damaging	Het
Clstn1	A	G	4: 149,634,722	N336S	possibly damaging	Het
Cntnap5a	A	G	1: 116,259,519	D607G	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Col20a1	C	T	2: 180,994,960	H245Y	probably benign	Het
Coq8b	A	T	7: 27,252,309	T399S	probably benign	Het
Cpn2	A	G	16: 30,260,185	S233P	probably benign	Het
Cryz	G	A	3: 154,606,476	G70D	probably damaging	Het
Csmd1	G	T	8: 16,157,204		probably benign	Het
Def6	T	A	17: 28,225,982	D451E	possibly damaging	Het
Dnah8	T	A	17: 30,747,277	C2480*	probably null	Het
Dnah9	T	C	11: 65,927,822	N3230S	probably benign	Het
Dyrk4	G	T	6: 126,916,374	S15*	probably null	Het
Erc1	T	C	6: 119,694,602	R917G	probably damaging	Het
Fgd2	T	A	17: 29,374,108		probably benign	Het
Frem3	G	T	8: 80,611,191	V38L	probably benign	Het
Gas2l3	T	C	10: 89,413,934	I441V	probably benign	Het
Gm14393	T	A	2: 175,063,981	Y6F	probably damaging	Het
Gm1527	A	G	3: 28,915,268	K256E	possibly damaging	Het
Gtf2ird1	T	A	5: 134,395,802		probably null	Het
Hmces	C	A	6: 87,936,139	T292K	probably benign	Het
Hpse2	G	A	19: 43,388,253	S20L	probably benign	Het
Ikbke	A	T	1: 131,276,487	V23E	probably null	Het
Ino80	A	T	2: 119,379,649	V1387E	probably damaging	Het
Islr	G	T	9: 58,157,306	A306D	probably damaging	Het
Jakmip1	G	A	5: 37,100,838	G276D	probably damaging	Het
Jchain	A	G	5: 88,526,120	V55A	probably benign	Het
Kalrn	T	C	16: 34,187,471	K1350E	probably damaging	Het
Kansl1l	T	C	1: 66,801,997	Q48R	possibly damaging	Het
Kmt5a	T	C	5: 124,447,271	L23P	probably damaging	Het
Lrba	C	T	3: 86,737,142	H381Y	probably damaging	Het
Lrch3	T	C	16: 32,988,495		probably benign	Het
Lrrc32	T	C	7: 98,499,357	V448A	probably benign	Het
Mapkbp1	T	C	2: 120,017,820	M617T	probably damaging	Het
Megf6	C	T	4: 154,252,419		probably benign	Het
Mfap1a	T	C	2: 121,502,801	M50V	probably benign	Het
Mgam	G	T	6: 40,759,128	A854S	probably damaging	Het
Myh3	A	C	11: 67,098,059		probably benign	Het
Myo18b	C	A	5: 112,693,033	R2298L	probably damaging	Het
Myo1h	T	A	5: 114,319,704	M92K	probably damaging	Het
Nfkbib	T	C	7: 28,762,022		probably null	Het
Nlrp2	T	A	7: 5,300,951	T192S	probably benign	Het
Nr2f1	A	T	13: 78,198,165	Y137N	possibly damaging	Het
Nup98	T	A	7: 102,147,306	D841V	probably damaging	Het
Nvl	A	G	1: 181,139,262	V59A	probably damaging	Het
Ogdhl	C	A	14: 32,346,788	N948K	probably damaging	Het
Olfr530	A	G	7: 140,373,113	S166P	probably benign	Het
Olfr538	A	G	7: 140,574,749	T199A	probably benign	Het
Olfr578	A	C	7: 102,984,323	Y280*	probably null	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Orc2	A	C	1: 58,481,158		probably benign	Het
Osgin1	G	A	8: 119,444,965	R166H	probably damaging	Het
Palb2	A	T	7: 122,107,523	F741I	probably benign	Het
Palb2	G	T	7: 122,107,524	Y740*	probably null	Het
Parvb	G	A	15: 84,271,252	G46D	probably damaging	Het
Parvb	G	A	15: 84,271,308	D65N	probably benign	Het
Pcsk2	A	T	2: 143,546,518	K10*	probably null	Het
Pde3a	C	T	6: 141,466,206	A502V	probably benign	Het
Pfas	T	C	11: 68,991,359	I893V	probably benign	Het
Pla2g4a	A	T	1: 149,840,720	D663E	probably damaging	Het
Prickle2	G	A	6: 92,458,602	P6L	probably damaging	Het
Prx	T	A	7: 27,517,601	M648K	probably benign	Het
Ptpn21	T	C	12: 98,688,476	N744S	probably benign	Het
Ptprq	C	T	10: 107,718,574	V97M	probably damaging	Het
Pvr	T	C	7: 19,918,624	E122G	possibly damaging	Het
Racgap1	T	C	15: 99,639,775	K15E	probably damaging	Het
Rock1	C	T	18: 10,136,091		probably null	Het
Rorc	T	A	3: 94,397,302	Y331*	probably null	Het
Rpl37	T	C	15: 5,118,614	V91A	probably benign	Het
Rrp36	T	A	17: 46,672,380	K103*	probably null	Het
Ryr3	T	A	2: 112,653,007	M4142L	probably benign	Het
Sash1	A	T	10: 8,789,593	L125H	probably damaging	Het
Scn5a	T	C	9: 119,536,475	M369V	possibly damaging	Het
Siglec1	A	T	2: 131,070,387	N1678K	probably benign	Het
Slc15a5	A	T	6: 138,072,994	V141E	probably benign	Het
Slc43a1	T	C	2: 84,859,676		probably benign	Het
Slc8a3	A	T	12: 81,199,710	H856Q	probably benign	Het
Sptlc2	T	A	12: 87,355,640	M171L	probably benign	Het
Srcap	T	A	7: 127,559,727		probably benign	Het
St6gal2	A	G	17: 55,490,943	D310G	probably damaging	Het
Susd2	T	A	10: 75,638,054	D689V	probably damaging	Het
Suz12	A	T	11: 80,019,732	E303V	possibly damaging	Het
Taldo1	C	A	7: 141,398,587	T150K	probably damaging	Het
Tex14	T	C	11: 87,549,529		probably benign	Het
Tg	T	A	15: 66,849,463	F274I	possibly damaging	Het
Tmem151b	T	C	17: 45,545,737	D259G	probably damaging	Het
Tmem179	G	T	12: 112,501,854	H64Q	probably benign	Het
Tmem236	A	G	2: 14,218,921	T174A	probably benign	Het
Tmtc1	T	A	6: 148,305,985		probably benign	Het
Tnc	A	T	4: 63,966,574	N1821K	probably damaging	Het
Tnfrsf11a	A	G	1: 105,825,048	N261S	probably damaging	Het
Traf6	G	T	2: 101,696,649		probably benign	Het
Trank1	C	A	9: 111,343,232	F96L	possibly damaging	Het
Trim56	T	A	5: 137,113,163	I500F	probably damaging	Het
Ttc30b	G	T	2: 75,937,811	S199R	probably benign	Het
Ttn	C	A	2: 76,778,023	W17852L	probably damaging	Het
Twnk	G	A	19: 45,009,381	V450M	probably damaging	Het
Uba52	A	G	8: 70,509,556	I127T	possibly damaging	Het
Ubr4	T	A	4: 139,421,226		probably null	Het
Uggt1	A	T	1: 36,176,796	M130K	probably benign	Het
Ulk4	T	A	9: 121,081,656	T1101S	probably benign	Het
Urb1	A	G	16: 90,752,014	S2269P	probably benign	Het
Ush2a	G	T	1: 188,400,206	R875L	probably benign	Het
Usp9y	T	A	Y: 1,332,471	H1624L	probably benign	Homo
Vipr1	T	C	9: 121,665,520	L308S	possibly damaging	Het
Vps50	G	A	6: 3,517,777		probably benign	Het
Xdh	T	G	17: 73,891,112	K1260T	probably damaging	Het
Yipf4	A	G	17: 74,493,968	I94V	probably benign	Het
Zfhx4	A	G	3: 5,413,146	*3582W	probably null	Het
Zfp58	T	C	13: 67,492,025	N116D	possibly damaging	Het
Zfp750	C	A	11: 121,511,993	R643L	probably benign	Het
Znfx1	A	G	2: 167,042,587	V51A	possibly damaging	Het

Other mutations in Ttll5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Ttll5	APN	12	85843826	missense	probably damaging	1.00
IGL00932:Ttll5	APN	12	85929907	missense	probably damaging	1.00
IGL00964:Ttll5	APN	12	85849283	missense	possibly damaging	0.78
IGL00978:Ttll5	APN	12	85933482	nonsense	probably null
IGL00990:Ttll5	APN	12	85876589	missense	probably damaging	1.00
IGL01726:Ttll5	APN	12	85918934	missense	probably benign	0.30
IGL01797:Ttll5	APN	12	85956597	missense	possibly damaging	0.54
IGL02008:Ttll5	APN	12	85933611	missense	probably damaging	1.00
IGL02210:Ttll5	APN	12	85912545	intron	probably benign
IGL02979:Ttll5	APN	12	85826582	missense	probably damaging	1.00
IGL03079:Ttll5	APN	12	85876558	missense	probably damaging	1.00
IGL03149:Ttll5	APN	12	85918984	missense	probably damaging	0.98
G4846:Ttll5	UTSW	12	86024244	missense	probably damaging	0.99
PIT4812001:Ttll5	UTSW	12	85926861	missense	probably benign	0.12
R0045:Ttll5	UTSW	12	85879359	splice site	probably benign
R0153:Ttll5	UTSW	12	85831966	missense	probably damaging	1.00
R0282:Ttll5	UTSW	12	85996053	missense	probably benign	0.12
R0318:Ttll5	UTSW	12	85876594	critical splice donor site	probably null
R0465:Ttll5	UTSW	12	85933326	missense	probably benign	0.42
R0540:Ttll5	UTSW	12	85933676	critical splice donor site	probably null
R1086:Ttll5	UTSW	12	85891079	missense	possibly damaging	0.66
R1467:Ttll5	UTSW	12	85918962	splice site	probably null
R1470:Ttll5	UTSW	12	85879394	missense	possibly damaging	0.59
R1505:Ttll5	UTSW	12	85879410	missense	probably damaging	1.00
R1524:Ttll5	UTSW	12	85864568	nonsense	probably null
R1540:Ttll5	UTSW	12	85892208	nonsense	probably null
R1598:Ttll5	UTSW	12	85863598	missense	probably damaging	0.98
R1649:Ttll5	UTSW	12	85923014	missense	probably damaging	1.00
R1774:Ttll5	UTSW	12	85933402	missense	probably benign	0.09
R2340:Ttll5	UTSW	12	85892148	missense	probably benign	0.02
R4049:Ttll5	UTSW	12	86012799	missense	probably benign	0.01
R4094:Ttll5	UTSW	12	85956602	nonsense	probably null
R4095:Ttll5	UTSW	12	85956602	nonsense	probably null
R4908:Ttll5	UTSW	12	85919174	missense	probably benign	0.31
R5012:Ttll5	UTSW	12	85926844	missense	possibly damaging	0.93
R5137:Ttll5	UTSW	12	85923045	missense	possibly damaging	0.83
R5416:Ttll5	UTSW	12	86012828	missense	possibly damaging	0.77
R5773:Ttll5	UTSW	12	85933555	frame shift	probably null
R5774:Ttll5	UTSW	12	85933555	frame shift	probably null
R6039:Ttll5	UTSW	12	85831955	missense	probably damaging	1.00
R6039:Ttll5	UTSW	12	85831955	missense	probably damaging	1.00
R6173:Ttll5	UTSW	12	85933377	missense	probably damaging	0.99
R6343:Ttll5	UTSW	12	85956699	missense	probably benign	0.00
R6449:Ttll5	UTSW	12	86024276	missense	probably benign	0.00
R6750:Ttll5	UTSW	12	85956610	missense	probably damaging	0.98
R6802:Ttll5	UTSW	12	85879386	missense	probably damaging	1.00
R6825:Ttll5	UTSW	12	85883328	splice site	probably null
R6955:Ttll5	UTSW	12	85864579	missense	possibly damaging	0.91
R7098:Ttll5	UTSW	12	85917673	critical splice acceptor site	probably null
R7154:Ttll5	UTSW	12	85925764	missense	probably damaging	0.98
R7215:Ttll5	UTSW	12	85933396	missense	probably benign	0.02
R7339:Ttll5	UTSW	12	85857464	critical splice donor site	probably null
R7520:Ttll5	UTSW	12	85899471	missense	probably damaging	1.00
R7728:Ttll5	UTSW	12	85956632	missense	probably benign	0.02
R7894:Ttll5	UTSW	12	85889174	missense	probably damaging	1.00
R8119:Ttll5	UTSW	12	86020548	missense	probably damaging	0.98
R8129:Ttll5	UTSW	12	85891084	critical splice donor site	probably null
R8200:Ttll5	UTSW	12	85879410	missense	probably damaging	1.00
R8357:Ttll5	UTSW	12	85876578	missense	probably damaging	1.00
R8413:Ttll5	UTSW	12	85919121	missense	probably benign	0.00
R8457:Ttll5	UTSW	12	85876578	missense	probably damaging	1.00
R9086:Ttll5	UTSW	12	85917742	missense	possibly damaging	0.94
R9086:Ttll5	UTSW	12	86024333	missense	probably benign
R9265:Ttll5	UTSW	12	85891021	nonsense	probably null
R9293:Ttll5	UTSW	12	85891032	missense	probably damaging	1.00
R9302:Ttll5	UTSW	12	85826564	missense	possibly damaging	0.63
R9621:Ttll5	UTSW	12	85892122	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- ACAGACTGTTCATGCACAGGGAAAG -3'
(R):5'- ATCACTATGCCCCACTAGCTGAGG -3'

Sequencing Primer
(F):5'- TGGGCCATCTGCACCTTG -3'
(R):5'- GATCCCAAGACCCTTCTCAC -3'

Posted On

2014-05-23