Mutagenetix > Incidental Mutation

Incidental Mutation 'R4908:Ttll5'

379229

Institutional Source

Beutler Lab

Gene Symbol

Ttll5

Ensembl Gene

ENSMUSG00000012609

Gene Name

tubulin tyrosine ligase-like family, member 5

Synonyms

1700048H13Rik, D630041K24Rik, STAMP, 2310009M18Rik, 4930556H18Rik

MMRRC Submission

042510-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.709) question?

Stock #

R4908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85871417-86100534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85965948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 651 (E651G)

Ref Sequence

ENSEMBL: ENSMUSP00000105853 (fasta)

Gene Model

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

AlphaFold

Q8CHB8

Predicted Effect

probably benign
Transcript: ENSMUST00000040179
AA Change: E664G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000048809
Gene: ENSMUSG00000012609
AA Change: E664G

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

probably benign
Transcript: ENSMUST00000040273
AA Change: E664G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000039939
Gene: ENSMUSG00000012609
AA Change: E664G

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: ENSMUST00000110224
AA Change: E651G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105853
Gene: ENSMUSG00000012609
AA Change: E651G

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

SMART Domains

Protein: ENSMUSP00000134971
Gene: ENSMUSG00000012609

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

Predicted Effect

unknown
Transcript: ENSMUST00000176460
AA Change: E130G

Predicted Effect

probably benign
Transcript: ENSMUST00000176695

SMART Domains

Protein: ENSMUSP00000135852
Gene: ENSMUSG00000012609

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176937

Predicted Effect

unknown
Transcript: ENSMUST00000177168
AA Change: E99G

SMART Domains

Protein: ENSMUSP00000134874
Gene: ENSMUSG00000012609
AA Change: E99G

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	31	57	N/A	INTRINSIC
low complexity region	183	197	N/A	INTRINSIC
low complexity region	217	229	N/A	INTRINSIC
low complexity region	271	283	N/A	INTRINSIC
low complexity region	603	617	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177114

SMART Domains

Protein: ENSMUSP00000135395
Gene: ENSMUSG00000012609

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	A	9: 122,778,008 (GRCm39)	I79L	probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Acaa1a	G	A	9: 119,177,772 (GRCm39)	S218N	probably benign	Het
Acsm5	A	T	7: 119,137,314 (GRCm39)	I377F	probably damaging	Het
Ahnak2	T	C	12: 112,741,706 (GRCm39)	T789A	probably benign	Het
Ak9	A	T	10: 41,296,678 (GRCm39)	T1475S	unknown	Het
AU040320	A	T	4: 126,747,081 (GRCm39)	N1028Y	probably damaging	Het
Bahcc1	T	A	11: 120,178,580 (GRCm39)	S2380T	probably benign	Het
Cadps	A	G	14: 12,536,386 (GRCm38)	Y525H	probably damaging	Het
Casp8ap2	A	G	4: 32,639,905 (GRCm39)	T320A	possibly damaging	Het
Ccdc138	A	G	10: 58,380,817 (GRCm39)	N483D	possibly damaging	Het
Ccdc39	G	A	3: 33,893,242 (GRCm39)		probably null	Het
Cd300c2	T	C	11: 114,887,772 (GRCm39)	N210S	probably damaging	Het
Cd84	A	G	1: 171,700,432 (GRCm39)	D183G	probably damaging	Het
Cep95	C	T	11: 106,702,172 (GRCm39)	P390S	probably damaging	Het
Chd9	A	T	8: 91,741,877 (GRCm39)	H1622L	possibly damaging	Het
Cilp	C	A	9: 65,185,302 (GRCm39)	Q466K	probably benign	Het
Cinp	T	A	12: 110,850,487 (GRCm39)	T5S	probably damaging	Het
Clec4a2	T	C	6: 123,119,462 (GRCm39)	L238S	probably damaging	Het
Cntrob	T	C	11: 69,211,732 (GRCm39)	Y164C	probably damaging	Het
Col6a3	A	G	1: 90,735,246 (GRCm39)	L1408P	probably damaging	Het
Cul3	G	A	1: 80,258,632 (GRCm39)	S468L	possibly damaging	Het
Dnah11	T	A	12: 118,090,618 (GRCm39)	D1081V	probably benign	Het
Dnah2	C	A	11: 69,411,973 (GRCm39)	V263L	probably benign	Het
Efna3	C	G	3: 89,222,805 (GRCm39)	R185P	probably damaging	Het
F5	A	T	1: 164,039,389 (GRCm39)	I2000F	probably damaging	Het
Fancm	G	A	12: 65,141,645 (GRCm39)	G422E	probably benign	Het
Gcnt2	A	T	13: 41,014,210 (GRCm39)	D127V	probably damaging	Het
Gm21798	G	T	15: 64,689,618 (GRCm39)		probably benign	Het
Gramd1a	A	C	7: 30,838,292 (GRCm39)	S320R	probably benign	Het
Grn	T	C	11: 102,327,344 (GRCm39)		probably benign	Het
Helq	A	T	5: 100,910,507 (GRCm39)		probably null	Het
Herc2	A	G	7: 55,827,660 (GRCm39)	I2914V	probably benign	Het
Hnrnph1	T	C	11: 50,269,237 (GRCm39)	V27A	probably damaging	Het
Hs1bp3	G	T	12: 8,374,007 (GRCm39)	G182C	probably damaging	Het
Idnk	C	T	13: 58,311,267 (GRCm39)	P78L	probably benign	Het
Il10ra	T	C	9: 45,166,919 (GRCm39)	D544G	probably benign	Het
Inpp5e	T	C	2: 26,290,918 (GRCm39)	D383G	probably damaging	Het
Jak1	A	T	4: 101,036,911 (GRCm39)	V243D	probably damaging	Het
Kcnma1	A	T	14: 23,359,220 (GRCm39)	S1036T	probably damaging	Het
Kif26a	G	A	12: 112,123,776 (GRCm39)	C127Y	probably damaging	Het
Kif2c	T	C	4: 117,023,608 (GRCm39)	E368G	probably damaging	Het
Lasp1	T	A	11: 97,724,530 (GRCm39)		probably null	Het
Lcor	T	A	19: 41,572,601 (GRCm39)	V452D	probably benign	Het
Lrrtm1	C	G	6: 77,221,661 (GRCm39)	H373D	probably benign	Het
Matr3	T	A	18: 35,705,754 (GRCm39)	D226E	probably damaging	Het
Mmp17	G	A	5: 129,682,730 (GRCm39)	W456*	probably null	Het
Mpp4	T	C	1: 59,164,748 (GRCm39)	E463G	probably damaging	Het
Myh6	A	C	14: 55,194,419 (GRCm39)	F737V	probably damaging	Het
Nars2	T	A	7: 96,672,948 (GRCm39)	D271E	probably benign	Het
Nav2	A	G	7: 49,254,258 (GRCm39)	E2352G	probably damaging	Het
Nckap1	A	G	2: 80,353,718 (GRCm39)		probably null	Het
Nckap5	A	T	1: 125,955,324 (GRCm39)	S477R	probably damaging	Het
Nek11	T	G	9: 105,175,488 (GRCm39)	I319L	probably benign	Het
Neto2	A	G	8: 86,396,393 (GRCm39)	I84T	probably damaging	Het
Nlrp9a	A	T	7: 26,250,369 (GRCm39)	I45F	probably damaging	Het
Numa1	G	A	7: 101,662,012 (GRCm39)	R548H	probably damaging	Het
Or10a5	A	C	7: 106,635,364 (GRCm39)	M1L	probably benign	Het
Or14c39	A	C	7: 86,344,395 (GRCm39)	I244L	probably benign	Het
Or2ag1b	A	T	7: 106,288,740 (GRCm39)	L66H	probably damaging	Het
Or4c10	A	T	2: 89,760,923 (GRCm39)	M257L	probably benign	Het
Or4c100	T	A	2: 88,356,254 (GRCm39)	I109N	probably damaging	Het
Or4k36	T	A	2: 111,146,574 (GRCm39)	F250Y	probably benign	Het
Or7g25	A	G	9: 19,160,149 (GRCm39)	V182A	probably benign	Het
Or9m1	A	T	2: 87,733,533 (GRCm39)	N162K	probably damaging	Het
Pcdhb16	T	A	18: 37,612,894 (GRCm39)		probably null	Het
Pdcd10	T	C	3: 75,448,553 (GRCm39)	T4A	probably damaging	Het
Pgc	A	T	17: 48,039,819 (GRCm39)	Y71F	probably damaging	Het
Phlpp1	G	A	1: 106,317,481 (GRCm39)	G1234E	probably damaging	Het
Prr27	T	C	5: 87,990,888 (GRCm39)	F167L	probably benign	Het
Prrc2b	T	A	2: 32,116,330 (GRCm39)	S1421T	possibly damaging	Het
Pxmp2	A	G	5: 110,431,518 (GRCm39)	V75A	probably benign	Het
Pygl	A	T	12: 70,243,807 (GRCm39)	M545K	probably null	Het
Ranbp9	A	G	13: 43,574,733 (GRCm39)	Y412H	possibly damaging	Het
Rcc1	A	G	4: 132,065,064 (GRCm39)	V140A	probably damaging	Het
Reln	A	G	5: 22,184,718 (GRCm39)	V1599A	probably benign	Het
Rhebl1	A	T	15: 98,776,903 (GRCm39)	D122E	probably damaging	Het
Rock2	C	T	12: 17,009,492 (GRCm39)	L676F	probably benign	Het
Scn9a	A	T	2: 66,357,087 (GRCm39)	D1062E	probably benign	Het
Sec63	T	C	10: 42,681,186 (GRCm39)	I390T	probably damaging	Het
Slc10a6	T	C	5: 103,754,493 (GRCm39)	E346G	probably benign	Het
Slc12a3	G	A	8: 95,075,216 (GRCm39)	V737M	possibly damaging	Het
Slc12a8	T	C	16: 33,426,629 (GRCm39)		probably null	Het
Slc25a38	T	A	9: 119,949,354 (GRCm39)	I102N	probably damaging	Het
Spg7	T	A	8: 123,807,394 (GRCm39)	V390E	probably damaging	Het
Tbc1d20	T	C	2: 152,144,228 (GRCm39)	V75A	probably benign	Het
Tesk1	T	A	4: 43,445,555 (GRCm39)	C243*	probably null	Het
Ttk	T	A	9: 83,725,739 (GRCm39)	N220K	possibly damaging	Het
Tubd1	T	C	11: 86,457,879 (GRCm39)	Y426H	probably damaging	Het
Uba6	T	C	5: 86,288,293 (GRCm39)		silent	Het
Ube2ql1	G	A	13: 69,852,289 (GRCm39)	R263W	probably damaging	Het
Vmn2r117	C	T	17: 23,678,812 (GRCm39)	G804D	probably damaging	Het
Vmn2r25	C	T	6: 123,805,406 (GRCm39)	E484K	probably benign	Het
Vmn2r4	T	A	3: 64,296,476 (GRCm39)	I770F	possibly damaging	Het
Vmn2r82	G	A	10: 79,214,589 (GRCm39)	V191M	probably benign	Het
Zbtb45	C	T	7: 12,742,037 (GRCm39)	V74M	probably damaging	Het
Zfp366	T	C	13: 99,370,609 (GRCm39)	V443A	possibly damaging	Het
Zfyve1	A	T	12: 83,598,345 (GRCm39)	C628S	probably damaging	Het
Zfyve26	A	T	12: 79,296,469 (GRCm39)		probably null	Het

Other mutations in Ttll5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Ttll5	APN	12	85,890,600 (GRCm39)	missense	probably damaging	1.00
IGL00932:Ttll5	APN	12	85,976,681 (GRCm39)	missense	probably damaging	1.00
IGL00964:Ttll5	APN	12	85,896,057 (GRCm39)	missense	possibly damaging	0.78
IGL00978:Ttll5	APN	12	85,980,256 (GRCm39)	nonsense	probably null
IGL00990:Ttll5	APN	12	85,923,363 (GRCm39)	missense	probably damaging	1.00
IGL01726:Ttll5	APN	12	85,965,708 (GRCm39)	missense	probably benign	0.30
IGL01797:Ttll5	APN	12	86,003,371 (GRCm39)	missense	possibly damaging	0.54
IGL02008:Ttll5	APN	12	85,980,385 (GRCm39)	missense	probably damaging	1.00
IGL02210:Ttll5	APN	12	85,959,319 (GRCm39)	intron	probably benign
IGL02979:Ttll5	APN	12	85,873,356 (GRCm39)	missense	probably damaging	1.00
IGL03079:Ttll5	APN	12	85,923,332 (GRCm39)	missense	probably damaging	1.00
IGL03149:Ttll5	APN	12	85,965,758 (GRCm39)	missense	probably damaging	0.98
G4846:Ttll5	UTSW	12	86,071,018 (GRCm39)	missense	probably damaging	0.99
PIT4812001:Ttll5	UTSW	12	85,973,635 (GRCm39)	missense	probably benign	0.12
R0045:Ttll5	UTSW	12	85,926,133 (GRCm39)	splice site	probably benign
R0153:Ttll5	UTSW	12	85,878,740 (GRCm39)	missense	probably damaging	1.00
R0282:Ttll5	UTSW	12	86,042,827 (GRCm39)	missense	probably benign	0.12
R0318:Ttll5	UTSW	12	85,923,368 (GRCm39)	critical splice donor site	probably null
R0465:Ttll5	UTSW	12	85,980,100 (GRCm39)	missense	probably benign	0.42
R0540:Ttll5	UTSW	12	85,980,450 (GRCm39)	critical splice donor site	probably null
R1086:Ttll5	UTSW	12	85,937,853 (GRCm39)	missense	possibly damaging	0.66
R1467:Ttll5	UTSW	12	85,965,736 (GRCm39)	splice site	probably null
R1470:Ttll5	UTSW	12	85,926,168 (GRCm39)	missense	possibly damaging	0.59
R1470:Ttll5	UTSW	12	85,926,168 (GRCm39)	missense	possibly damaging	0.59
R1505:Ttll5	UTSW	12	85,926,184 (GRCm39)	missense	probably damaging	1.00
R1524:Ttll5	UTSW	12	85,911,342 (GRCm39)	nonsense	probably null
R1540:Ttll5	UTSW	12	85,938,982 (GRCm39)	nonsense	probably null
R1598:Ttll5	UTSW	12	85,910,372 (GRCm39)	missense	probably damaging	0.98
R1649:Ttll5	UTSW	12	85,969,788 (GRCm39)	missense	probably damaging	1.00
R1774:Ttll5	UTSW	12	85,980,176 (GRCm39)	missense	probably benign	0.09
R2340:Ttll5	UTSW	12	85,938,922 (GRCm39)	missense	probably benign	0.02
R4049:Ttll5	UTSW	12	86,059,573 (GRCm39)	missense	probably benign	0.01
R4094:Ttll5	UTSW	12	86,003,376 (GRCm39)	nonsense	probably null
R4095:Ttll5	UTSW	12	86,003,376 (GRCm39)	nonsense	probably null
R5012:Ttll5	UTSW	12	85,973,618 (GRCm39)	missense	possibly damaging	0.93
R5137:Ttll5	UTSW	12	85,969,819 (GRCm39)	missense	possibly damaging	0.83
R5416:Ttll5	UTSW	12	86,059,602 (GRCm39)	missense	possibly damaging	0.77
R5773:Ttll5	UTSW	12	85,980,329 (GRCm39)	frame shift	probably null
R5774:Ttll5	UTSW	12	85,980,329 (GRCm39)	frame shift	probably null
R6039:Ttll5	UTSW	12	85,878,729 (GRCm39)	missense	probably damaging	1.00
R6039:Ttll5	UTSW	12	85,878,729 (GRCm39)	missense	probably damaging	1.00
R6173:Ttll5	UTSW	12	85,980,151 (GRCm39)	missense	probably damaging	0.99
R6343:Ttll5	UTSW	12	86,003,473 (GRCm39)	missense	probably benign	0.00
R6449:Ttll5	UTSW	12	86,071,050 (GRCm39)	missense	probably benign	0.00
R6750:Ttll5	UTSW	12	86,003,384 (GRCm39)	missense	probably damaging	0.98
R6802:Ttll5	UTSW	12	85,926,160 (GRCm39)	missense	probably damaging	1.00
R6825:Ttll5	UTSW	12	85,930,102 (GRCm39)	splice site	probably null
R6955:Ttll5	UTSW	12	85,911,353 (GRCm39)	missense	possibly damaging	0.91
R7098:Ttll5	UTSW	12	85,964,447 (GRCm39)	critical splice acceptor site	probably null
R7154:Ttll5	UTSW	12	85,972,538 (GRCm39)	missense	probably damaging	0.98
R7215:Ttll5	UTSW	12	85,980,170 (GRCm39)	missense	probably benign	0.02
R7339:Ttll5	UTSW	12	85,904,238 (GRCm39)	critical splice donor site	probably null
R7520:Ttll5	UTSW	12	85,946,245 (GRCm39)	missense	probably damaging	1.00
R7728:Ttll5	UTSW	12	86,003,406 (GRCm39)	missense	probably benign	0.02
R7894:Ttll5	UTSW	12	85,935,948 (GRCm39)	missense	probably damaging	1.00
R8119:Ttll5	UTSW	12	86,067,322 (GRCm39)	missense	probably damaging	0.98
R8129:Ttll5	UTSW	12	85,937,858 (GRCm39)	critical splice donor site	probably null
R8200:Ttll5	UTSW	12	85,926,184 (GRCm39)	missense	probably damaging	1.00
R8357:Ttll5	UTSW	12	85,923,352 (GRCm39)	missense	probably damaging	1.00
R8413:Ttll5	UTSW	12	85,965,895 (GRCm39)	missense	probably benign	0.00
R8457:Ttll5	UTSW	12	85,923,352 (GRCm39)	missense	probably damaging	1.00
R9086:Ttll5	UTSW	12	86,071,107 (GRCm39)	missense	probably benign
R9086:Ttll5	UTSW	12	85,964,516 (GRCm39)	missense	possibly damaging	0.94
R9265:Ttll5	UTSW	12	85,937,795 (GRCm39)	nonsense	probably null
R9293:Ttll5	UTSW	12	85,937,806 (GRCm39)	missense	probably damaging	1.00
R9302:Ttll5	UTSW	12	85,873,338 (GRCm39)	missense	possibly damaging	0.63
R9621:Ttll5	UTSW	12	85,938,896 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- TTGCCCAACCAGCTGAAATG -3'
(R):5'- AGGACTTCTGCCATTTCCAG -3'

Sequencing Primer
(F):5'- CCAGCTGAAATGAATATTAAAACCG -3'
(R):5'- GAGGAAACTGTGAAGCCACTGAC -3'

Posted On

2016-04-15