Mutagenetix > Incidental Mutation

Incidental Mutation 'R7848:Ttll1'

606756

Institutional Source

Beutler Lab

Gene Symbol

Ttll1

Ensembl Gene

ENSMUSG00000022442

Gene Name

tubulin tyrosine ligase-like 1

Synonyms

6330444E16Rik

MMRRC Submission

045902-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R7848 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83367970-83395094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83381573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 232 (E232G)

Ref Sequence

ENSEMBL: ENSMUSP00000016897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016897] [ENSMUST00000109479] [ENSMUST00000109480] [ENSMUST00000154401]

AlphaFold

Q91V51

Predicted Effect

probably damaging
Transcript: ENSMUST00000016897
AA Change: E232G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000016897
Gene: ENSMUSG00000022442
AA Change: E232G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109479
AA Change: E232G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105105
Gene: ENSMUSG00000022442
AA Change: E232G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109480
AA Change: E232G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105106
Gene: ENSMUSG00000022442
AA Change: E232G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154401

SMART Domains

Protein: ENSMUSP00000117790
Gene: ENSMUSG00000022442

Domain	Start	End	E-Value	Type
Pfam:TTL	48	89	9e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,340,007 (GRCm39)	A2T	probably damaging	Het
Abca3	G	T	17: 24,603,506 (GRCm39)	G566V	probably damaging	Het
Aff4	C	A	11: 53,295,339 (GRCm39)	N846K	probably benign	Het
Aldh1l2	C	T	10: 83,335,707 (GRCm39)	R714Q	probably benign	Het
Cbln1	T	C	8: 88,198,328 (GRCm39)	T126A	probably damaging	Het
Ccdc85a	A	G	11: 28,346,123 (GRCm39)	S446P	possibly damaging	Het
Ccdc87	A	G	19: 4,891,536 (GRCm39)	Q676R	probably damaging	Het
Cenatac	A	G	9: 44,324,939 (GRCm39)	S139P	probably damaging	Het
Col26a1	T	C	5: 136,775,907 (GRCm39)	K349E	possibly damaging	Het
Col6a5	T	C	9: 105,805,385 (GRCm39)	I1174V	unknown	Het
Cyth1	TGGGCAA	T	11: 118,074,749 (GRCm39)		probably null	Het
Dmxl1	A	G	18: 49,973,557 (GRCm39)	D64G	possibly damaging	Het
Dnajc15	T	C	14: 78,077,643 (GRCm39)	H114R	probably damaging	Het
Espl1	T	C	15: 102,224,961 (GRCm39)	F1390S	probably damaging	Het
F5	T	C	1: 163,989,446 (GRCm39)	I116T	possibly damaging	Het
Fam120b	T	C	17: 15,626,036 (GRCm39)	V463A	possibly damaging	Het
Fat4	A	G	3: 38,942,000 (GRCm39)	M298V	probably benign	Het
Fhad1	A	T	4: 141,632,913 (GRCm39)	M1197K	probably benign	Het
Fn1	T	A	1: 71,689,760 (GRCm39)	I127F	probably damaging	Het
Frmd4a	A	G	2: 4,596,728 (GRCm39)		probably benign	Het
Gabpb2	A	T	3: 95,097,959 (GRCm39)	V238E	probably damaging	Het
Gnpat	C	A	8: 125,613,630 (GRCm39)	Q626K	possibly damaging	Het
Gstm7	A	T	3: 107,835,902 (GRCm39)		probably null	Het
Gys2	G	T	6: 142,391,741 (GRCm39)	S507*	probably null	Het
Ippk	T	A	13: 49,596,972 (GRCm39)		probably null	Het
Itga8	T	A	2: 12,196,548 (GRCm39)	N623I	probably damaging	Het
Kcnb1	A	G	2: 166,948,188 (GRCm39)	F220S	probably damaging	Het
Kiz	T	A	2: 146,731,100 (GRCm39)	S197T	probably benign	Het
Klhl42	A	G	6: 147,009,598 (GRCm39)	N479S	probably damaging	Het
Lims2	A	G	18: 32,091,301 (GRCm39)	*60W	probably null	Het
Lrch4	A	G	5: 137,632,116 (GRCm39)	N124S	probably damaging	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Map3k13	T	C	16: 21,724,621 (GRCm39)	V373A	probably damaging	Het
Mapkapk5	A	G	5: 121,683,232 (GRCm39)	I11T	probably benign	Het
Mroh2b	C	T	15: 4,967,861 (GRCm39)	Q967*	probably null	Het
Mthfd1l	A	G	10: 4,033,739 (GRCm39)	T709A	possibly damaging	Het
Muc6	T	C	7: 141,232,188 (GRCm39)	T939A	possibly damaging	Het
Ncam2	C	T	16: 81,287,267 (GRCm39)	H394Y	probably benign	Het
Ncoa7	A	T	10: 30,524,414 (GRCm39)	N161K	possibly damaging	Het
Nr2c1	C	T	10: 94,026,508 (GRCm39)	S461L	probably benign	Het
Nrg3	T	C	14: 38,390,240 (GRCm39)	E323G	probably damaging	Het
Nufip1	G	A	14: 76,351,661 (GRCm39)	R172H	probably damaging	Het
Nup210l	A	G	3: 90,111,212 (GRCm39)	T1705A	probably benign	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Ogfr	T	C	2: 180,234,226 (GRCm39)	L99P	probably damaging	Het
Or10am5	T	C	7: 6,517,861 (GRCm39)	D189G	probably damaging	Het
Or51a43	T	A	7: 103,717,302 (GRCm39)	N312I	probably benign	Het
Pcare	T	C	17: 72,056,188 (GRCm39)	D1163G	probably benign	Het
Pcdh18	A	T	3: 49,710,446 (GRCm39)	S290T	possibly damaging	Het
Pklr	T	G	3: 89,050,285 (GRCm39)	I378S	possibly damaging	Het
Rbm12	A	T	2: 155,938,136 (GRCm39)	M712K	probably benign	Het
Rnase10	T	C	14: 51,246,970 (GRCm39)	V116A	possibly damaging	Het
Scube3	T	C	17: 28,384,569 (GRCm39)	L621P	probably benign	Het
Slc35e1	T	C	8: 73,246,280 (GRCm39)	I51V	probably benign	Het
Smcr8	A	G	11: 60,670,750 (GRCm39)	T633A	probably benign	Het
St18	T	C	1: 6,927,669 (GRCm39)		probably null	Het
Tm9sf4	T	A	2: 153,044,275 (GRCm39)	I509N	probably damaging	Het
Tmcc2	T	C	1: 132,288,359 (GRCm39)	K443E	probably damaging	Het
Tmem98	T	G	11: 80,710,758 (GRCm39)	V139G	probably damaging	Het
Trgv5	G	A	13: 19,376,849 (GRCm39)	V99I	probably damaging	Het
Zfp442	T	C	2: 150,253,146 (GRCm39)	N39D	possibly 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
R6368:Ttll1	UTSW	15	83,373,818 (GRCm39)	missense	probably damaging	1.00
R6636:Ttll1	UTSW	15	83,384,147 (GRCm39)	missense	probably damaging	1.00
R6959:Ttll1	UTSW	15	83,386,397 (GRCm39)	nonsense	probably null
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'- CTCTGAGTTGCTTCTGGACC -3'
(R):5'- GCTAACATCCACTCTTCTGTTGAG -3'

Sequencing Primer
(F):5'- TTGCTTCTGGACCTCGGGC -3'
(R):5'- TTGAACTCATGACCTCTGGAAGAGC -3'

Posted On

2019-12-20