Mutagenetix > Incidental Mutation

Incidental Mutation 'R6368:Ttll1'

512815

Institutional Source

Beutler Lab

Gene Symbol

Ttll1

Ensembl Gene

ENSMUSG00000022442

Gene Name

tubulin tyrosine ligase-like 1

Synonyms

6330444E16Rik

MMRRC Submission

044518-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R6368 (G1)

Quality Score

216.009

Status

Not validated

Chromosome

Chromosomal Location

83367970-83395094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83373818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 332 (S332P)

Ref Sequence

ENSEMBL: ENSMUSP00000105106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016897] [ENSMUST00000109479] [ENSMUST00000109480]

AlphaFold

Q91V51

Predicted Effect

probably damaging
Transcript: ENSMUST00000016897
AA Change: S332P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000016897
Gene: ENSMUSG00000022442
AA Change: S332P

Domain	Start	End	E-Value	Type
Pfam:TTL	50	364	5.3e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109479

SMART Domains

Protein: ENSMUSP00000105105
Gene: ENSMUSG00000022442

Domain	Start	End	E-Value	Type
Pfam:TTL	49	297	1.5e-83	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109480
AA Change: S332P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105106
Gene: ENSMUSG00000022442
AA Change: S332P

Domain	Start	End	E-Value	Type
Pfam:TTL	50	364	6.6e-116	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit short sperm flagellum, abnormal tracheal cilia morphology and function, abnormal mucociliary clearance, and rhinosinitus with coughing or sneezing-like noises. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	C	A	9: 55,897,416 (GRCm39)	E272D	possibly damaging	Het
Abi2	A	G	1: 60,492,810 (GRCm39)	T158A	possibly damaging	Het
Acacb	T	C	5: 114,354,884 (GRCm39)	S1221P	probably damaging	Het
Agbl1	A	G	7: 76,069,578 (GRCm39)	D370G	probably benign	Het
Apeh	A	G	9: 107,964,442 (GRCm39)	I487T	probably damaging	Het
Arid1b	C	A	17: 5,382,808 (GRCm39)	N1297K	possibly damaging	Het
Ascc3	G	A	10: 50,576,081 (GRCm39)	G779S	probably damaging	Het
Atp7b	A	C	8: 22,510,771 (GRCm39)		probably null	Het
Bsn	C	T	9: 107,988,513 (GRCm39)		probably benign	Het
Caps2	C	T	10: 112,030,873 (GRCm39)	Q268*	probably null	Het
Cnfn	C	T	7: 25,067,386 (GRCm39)		probably null	Het
Cr2	A	G	1: 194,850,780 (GRCm39)	S229P	probably damaging	Het
Cubn	T	C	2: 13,435,806 (GRCm39)	Y1050C	probably damaging	Het
Cubn	T	C	2: 13,480,934 (GRCm39)	E307G	probably damaging	Het
Cyb5r3	A	C	15: 83,044,325 (GRCm39)	Y182D	possibly damaging	Het
Dclre1a	A	T	19: 56,535,223 (GRCm39)	H120Q	probably benign	Het
Ddx6	T	C	9: 44,547,073 (GRCm39)	I457T	probably damaging	Het
E2f1	A	T	2: 154,406,396 (GRCm39)	H93Q	possibly damaging	Het
Fam186a	T	C	15: 99,841,198 (GRCm39)	K1682R	possibly damaging	Het
Farsb	A	G	1: 78,443,602 (GRCm39)		probably null	Het
Flii	A	T	11: 60,611,962 (GRCm39)	L347Q	probably damaging	Het
Galntl6	T	G	8: 59,364,475 (GRCm39)	T12P	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm21680	T	C	5: 26,174,034 (GRCm39)	N190S	probably damaging	Het
Ifit1bl2	T	C	19: 34,596,525 (GRCm39)	S364G	probably benign	Het
Kdm2a	A	G	19: 4,400,345 (GRCm39)	I234T	probably damaging	Het
Kdm5b	T	C	1: 134,526,945 (GRCm39)	C356R	probably damaging	Het
Kel	A	T	6: 41,665,785 (GRCm39)	C174*	probably null	Het
Krt16	T	A	11: 100,137,502 (GRCm39)	D401V	probably damaging	Het
Ltb4r1	A	C	14: 56,005,200 (GRCm39)	I168L	probably benign	Het
Luzp1	T	A	4: 136,269,091 (GRCm39)	M438K	probably benign	Het
Mtf1	C	T	4: 124,718,145 (GRCm39)	T281M	probably damaging	Het
Myo9a	T	A	9: 59,832,231 (GRCm39)	S2587T	probably benign	Het
Or13a21	G	T	7: 139,999,580 (GRCm39)	Y35*	probably null	Het
Or1ad1	T	A	11: 50,875,613 (GRCm39)	F28L	probably benign	Het
Or4f58	A	T	2: 111,851,896 (GRCm39)	I101N	probably damaging	Het
Or7e169	T	C	9: 19,757,705 (GRCm39)	D70G	probably damaging	Het
Pcm1	T	A	8: 41,746,581 (GRCm39)	F1221Y	probably benign	Het
Pnldc1	A	T	17: 13,124,751 (GRCm39)	N90K	probably damaging	Het
Prickle2	A	T	6: 92,397,218 (GRCm39)	L169Q	probably damaging	Het
Ralgps2	A	T	1: 156,712,144 (GRCm39)	L147I	probably damaging	Het
Rfx3	A	T	19: 27,746,009 (GRCm39)	L674Q	possibly damaging	Het
Rpl3	C	A	15: 79,966,745 (GRCm39)	L14F	probably damaging	Het
Rrbp1	C	T	2: 143,831,475 (GRCm39)	G231R	probably damaging	Het
Sema3d	C	T	5: 12,620,980 (GRCm39)	L529F	probably damaging	Het
Slain1	A	T	14: 103,894,391 (GRCm39)	T193S	probably benign	Het
Slc2a6	G	T	2: 26,914,599 (GRCm39)	Q256K	possibly damaging	Het
Slk	A	G	19: 47,608,622 (GRCm39)	E525G	possibly damaging	Het
Spsb4	G	T	9: 96,826,698 (GRCm39)	Q252K	probably benign	Het
Taf1b	A	G	12: 24,608,256 (GRCm39)	T552A	possibly damaging	Het
Tmprss15	T	C	16: 78,802,945 (GRCm39)		probably null	Het
Tph2	T	C	10: 115,015,231 (GRCm39)	H177R	probably damaging	Het
Twf2	T	G	9: 106,090,032 (GRCm39)	N128K	probably benign	Het
Vegfc	T	A	8: 54,634,265 (GRCm39)	C315S	probably damaging	Het
Vmn2r111	T	A	17: 22,790,889 (GRCm39)	K136N	probably benign	Het
Wnk2	T	C	13: 49,214,814 (GRCm39)	E496G	probably damaging	Het
Zfp148	C	A	16: 33,317,568 (GRCm39)	Q705K	probably damaging	Het
Zw10	C	T	9: 48,984,535 (GRCm39)	A539V	probably damaging	Het

Other mutations in Ttll1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02129:Ttll1	APN	15	83,368,450 (GRCm39)	missense	probably benign
IGL02744:Ttll1	APN	15	83,373,778 (GRCm39)	missense	probably benign	0.00
R0639:Ttll1	UTSW	15	83,386,426 (GRCm39)	nonsense	probably null
R1248:Ttll1	UTSW	15	83,386,326 (GRCm39)	missense	probably benign	0.13
R1581:Ttll1	UTSW	15	83,380,478 (GRCm39)	missense	probably damaging	0.99
R1599:Ttll1	UTSW	15	83,381,555 (GRCm39)	missense	probably benign	0.36
R2264:Ttll1	UTSW	15	83,380,609 (GRCm39)	missense	probably damaging	1.00
R2923:Ttll1	UTSW	15	83,376,760 (GRCm39)	missense	probably damaging	0.97
R3786:Ttll1	UTSW	15	83,368,419 (GRCm39)	missense	probably benign	0.00
R4200:Ttll1	UTSW	15	83,376,778 (GRCm39)	missense	probably damaging	1.00
R4364:Ttll1	UTSW	15	83,384,195 (GRCm39)	missense	probably damaging	0.99
R4473:Ttll1	UTSW	15	83,376,810 (GRCm39)	missense	probably damaging	0.99
R4590:Ttll1	UTSW	15	83,381,546 (GRCm39)	missense	probably damaging	1.00
R4949:Ttll1	UTSW	15	83,386,374 (GRCm39)	missense	probably null	1.00
R4970:Ttll1	UTSW	15	83,380,597 (GRCm39)	missense	probably damaging	1.00
R5112:Ttll1	UTSW	15	83,380,597 (GRCm39)	missense	probably damaging	1.00
R5231:Ttll1	UTSW	15	83,373,667 (GRCm39)	splice site	probably null
R5911:Ttll1	UTSW	15	83,386,482 (GRCm39)	missense	probably benign	0.07
R6636:Ttll1	UTSW	15	83,384,147 (GRCm39)	missense	probably damaging	1.00
R6959:Ttll1	UTSW	15	83,386,397 (GRCm39)	nonsense	probably null
R7848:Ttll1	UTSW	15	83,381,573 (GRCm39)	missense	probably damaging	0.97
R8207:Ttll1	UTSW	15	83,384,279 (GRCm39)	missense	probably damaging	1.00
R8240:Ttll1	UTSW	15	83,376,783 (GRCm39)	missense	probably damaging	1.00
R8717:Ttll1	UTSW	15	83,373,709 (GRCm39)	missense	probably benign	0.01
R9195:Ttll1	UTSW	15	83,373,779 (GRCm39)	missense	probably benign	0.00
R9583:Ttll1	UTSW	15	83,384,226 (GRCm39)	missense	possibly damaging	0.91
R9601:Ttll1	UTSW	15	83,380,516 (GRCm39)	missense	probably benign	0.00
R9663:Ttll1	UTSW	15	83,380,579 (GRCm39)	missense	possibly damaging	0.50
Z1088:Ttll1	UTSW	15	83,382,390 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCACCATGCCTCAGTCTAGAAC -3'
(R):5'- AGGGTTACATCAGGTTGACAG -3'

Sequencing Primer
(F):5'- ATGCCTCAGTCTAGAACGCAGG -3'
(R):5'- CAGCTAACTGTGACCTTGTACATGAG -3'

Posted On

2018-04-27