Mutagenetix > Incidental Mutations

Incidental Mutation 'R1598:Ttll5'

175970

Institutional Source

Beutler Lab

Gene Symbol

Ttll5

Ensembl Gene

ENSMUSG00000012609

Gene Name

tubulin tyrosine ligase-like family, member 5

Synonyms

STAMP

MMRRC Submission

039635-MU

Accession Numbers

Genbank: NM_001081423

Is this an essential gene?

Possibly essential (E-score: 0.515) question?

Stock #

R1598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85824659-86061893 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85863598 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 207 (V207A)

Ref Sequence

ENSEMBL: ENSMUSP00000134971 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000040179
AA Change: V207A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048809
Gene: ENSMUSG00000012609
AA Change: V207A

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: V207A

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039939
Gene: ENSMUSG00000012609
AA Change: V207A

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

possibly damaging
Transcript: ENSMUST00000095536
AA Change: V207A

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000093192
Gene: ENSMUSG00000012609
AA Change: V207A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110220
AA Change: V207A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105849
Gene: ENSMUSG00000012609
AA Change: V207A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110224
AA Change: V207A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105853
Gene: ENSMUSG00000012609
AA Change: V207A

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 damaging
Transcript: ENSMUST00000155448
AA Change: V207A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134971
Gene: ENSMUSG00000012609
AA Change: V207A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176008

Predicted Effect

probably damaging
Transcript: ENSMUST00000176695
AA Change: V207A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135852
Gene: ENSMUSG00000012609
AA Change: V207A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000177114
AA Change: V207A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135395
Gene: ENSMUSG00000012609
AA Change: V207A

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.9%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	G	A	11: 80,364,012	Q328*	probably null	Het
Adamts1	G	A	16: 85,798,511	Q260*	probably null	Het
Add2	A	T	6: 86,098,646	Y259F	probably benign	Het
Bora	T	C	14: 99,068,404	V403A	probably benign	Het
Ccdc144b	C	T	3: 36,018,997	A379T	probably damaging	Het
Ccnl1	G	A	3: 65,946,770	R477W	probably damaging	Het
Cdc25a	CG	CGG	9: 109,879,893		probably null	Het
Cdr2l	T	C	11: 115,393,377	S180P	probably damaging	Het
Cep290	T	A	10: 100,549,329	L1889Q	probably damaging	Het
Ces4a	T	C	8: 105,142,821	V208A	probably damaging	Het
Col2a1	T	C	15: 97,979,250	D1049G	probably damaging	Het
Coro1a	A	T	7: 126,701,692	N154K	possibly damaging	Het
Cubn	T	A	2: 13,469,789	R401S	probably benign	Het
Cul7	A	T	17: 46,663,091	Q1434L	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dars	G	T	1: 128,373,972	D308E	probably benign	Het
Dna2	T	A	10: 62,961,657	F604I	probably damaging	Het
Dnah1	T	G	14: 31,301,262	I1033L	probably benign	Het
Dusp27	G	A	1: 166,110,259	T77I	probably benign	Het
Erlin1	T	C	19: 44,047,673	E206G	probably damaging	Het
Esrp2	T	A	8: 106,133,273	E345D	probably damaging	Het
Foxa1	T	C	12: 57,542,687	D249G	possibly damaging	Het
Ghsr	C	A	3: 27,372,277	L161M	probably benign	Het
Gm436	T	A	4: 144,670,424	K246I	possibly damaging	Het
Gpr155	C	A	2: 73,370,090	V358F	probably damaging	Het
H2-Eb2	A	T	17: 34,334,374	N178I	probably damaging	Het
Hydin	T	A	8: 110,410,674	I703N	possibly damaging	Het
Kctd15	A	G	7: 34,641,992	V170A	probably damaging	Het
Klhl31	A	T	9: 77,651,016	Y338F	possibly damaging	Het
Krt5	C	T	15: 101,712,441	A124T	probably benign	Het
Krt72	T	A	15: 101,780,253	I331F	probably benign	Het
Lrp1b	T	A	2: 41,511,478	D388V	probably damaging	Het
Ly9	A	G	1: 171,596,507	V382A	probably benign	Het
Mon2	T	C	10: 123,016,396	Y1024C	probably damaging	Het
Myh14	A	G	7: 44,638,394	F572L	probably damaging	Het
Myh3	A	T	11: 67,093,171	D987V	probably damaging	Het
Ndn	C	T	7: 62,348,508	P34L	probably benign	Het
Nphp4	A	G	4: 152,562,090	T1360A	probably benign	Het
Olfr1034	C	T	2: 86,047,313	T277I	probably damaging	Het
Olfr1151	T	A	2: 87,857,751	I192K	probably benign	Het
Olfr1299	G	T	2: 111,664,754	S176I	probably damaging	Het
Oog4	A	G	4: 143,438,001	L320P	probably damaging	Het
Pcnx2	T	C	8: 125,772,086	N1558S	probably benign	Het
Pde10a	A	G	17: 8,929,144	E147G	probably damaging	Het
Pgbd5	T	A	8: 124,374,287	H410L	probably benign	Het
Plce1	A	C	19: 38,720,996	D1098A	probably damaging	Het
Psg25	G	A	7: 18,532,003	Q16*	probably null	Het
Psmd9	T	A	5: 123,241,917	V133E	probably damaging	Het
Rabgap1	C	T	2: 37,561,899	S937F	probably damaging	Het
Rbck1	A	G	2: 152,323,170		probably null	Het
Rprd2	C	G	3: 95,818,739		probably benign	Het
Rrs1	A	G	1: 9,545,912	N130S	probably benign	Het
Scmh1	A	T	4: 120,515,130	I377F	possibly damaging	Het
Skor1	G	T	9: 63,146,004	R228S	probably damaging	Het
Slc2a4	A	G	11: 69,945,018	V335A	probably benign	Het
Slc4a9	G	A	18: 36,528,371	W62*	probably null	Het
Taar9	G	T	10: 24,109,407	A43D	possibly damaging	Het
Tns4	T	C	11: 99,070,417	Y645C	probably damaging	Het
Tpcn2	G	T	7: 145,277,220	Y129*	probably null	Het
Trpm3	T	C	19: 22,733,024	S278P	possibly damaging	Het
Ttc3	T	C	16: 94,422,297	W615R	probably damaging	Het
Ubr7	G	T	12: 102,769,894	M358I	probably damaging	Het
Urb1	C	A	16: 90,777,440	V918F	possibly damaging	Het
Vmn2r51	G	A	7: 10,105,505	T52I	probably benign	Het
Vmn2r95	A	T	17: 18,452,313	I771F	probably benign	Het
Wfdc16	T	C	2: 164,635,430	S107G	probably benign	Het
Zmym2	A	G	14: 56,902,769	T22A	possibly damaging	Het
Zmym2	G	A	14: 56,914,067	G470R	probably 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
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
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	intron	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

Predicted Primers

PCR Primer
(F):5'- TACCCACAGTGGTATGCTCTCTGG -3'
(R):5'- ACTGCACACAGCTTTAGTCATGCTC -3'

Sequencing Primer
(F):5'- GGTAAAGAACTTTCCCCACCCA -3'
(R):5'- CAAACAGTGCAGTCTTCAGATG -3'

Posted On

2014-04-24