Mutagenetix > Incidental Mutation

Incidental Mutation 'R1599:Ttll1'

176070

Institutional Source

Beutler Lab

Gene Symbol

Ttll1

Ensembl Gene

ENSMUSG00000022442

Gene Name

tubulin tyrosine ligase-like 1

Synonyms

6330444E16Rik

MMRRC Submission

039636-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R1599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83367970-83395094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83381555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 238 (V238A)

Ref Sequence

ENSEMBL: ENSMUSP00000105106 (fasta)

Gene Model

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

AlphaFold

Q91V51

Predicted Effect

probably benign
Transcript: ENSMUST00000016897
AA Change: V238A

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000016897
Gene: ENSMUSG00000022442
AA Change: V238A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109479
AA Change: V238A

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105105
Gene: ENSMUSG00000022442
AA Change: V238A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109480
AA Change: V238A

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105106
Gene: ENSMUSG00000022442
AA Change: V238A

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: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,197,033 (GRCm39)	E202G	probably damaging	Het
Adam23	A	G	1: 63,610,092 (GRCm39)	D698G	possibly damaging	Het
Adam3	T	C	8: 25,215,377 (GRCm39)	D20G	possibly damaging	Het
Adamts12	T	C	15: 11,071,797 (GRCm39)	S114P	probably damaging	Het
Adgrg6	T	A	10: 14,343,057 (GRCm39)	R297*	probably null	Het
Ahdc1	A	T	4: 132,792,247 (GRCm39)	S1163C	possibly damaging	Het
Axl	A	G	7: 25,463,394 (GRCm39)	Y619H	probably damaging	Het
Bcl11a	G	T	11: 24,113,887 (GRCm39)	C410F	probably damaging	Het
Brca2	C	A	5: 150,472,178 (GRCm39)	S2359*	probably null	Het
Calca	A	G	7: 114,233,707 (GRCm39)	S75P	probably damaging	Het
Ccn2	A	T	10: 24,473,297 (GRCm39)	R279W	probably benign	Het
Ccpg1	T	A	9: 72,906,407 (GRCm39)	Y54*	probably null	Het
Cfap161	A	T	7: 83,425,287 (GRCm39)	M268K	possibly damaging	Het
Cfap61	T	A	2: 145,854,083 (GRCm39)	V365E	probably benign	Het
Cgnl1	T	C	9: 71,548,709 (GRCm39)	I1000V	probably benign	Het
Chd2	A	T	7: 73,122,799 (GRCm39)	D978E	probably benign	Het
Cyth1	G	A	11: 118,068,047 (GRCm39)	T297M	probably damaging	Het
Dennd1b	T	G	1: 139,095,468 (GRCm39)	D505E	probably benign	Het
Dgkd	A	G	1: 87,809,608 (GRCm39)	T99A	possibly damaging	Het
Fam161a	A	T	11: 22,971,093 (GRCm39)	M180L	probably benign	Het
Gar1	G	T	3: 129,624,253 (GRCm39)	R80S	probably benign	Het
Gm28042	T	C	2: 119,866,944 (GRCm39)	S419P	probably benign	Het
Gm5591	A	C	7: 38,219,794 (GRCm39)	C360G	probably benign	Het
Golga2	A	G	2: 32,193,185 (GRCm39)	H427R	probably benign	Het
Gpt2	A	G	8: 86,238,863 (GRCm39)	Y232C	probably damaging	Het
Hnrnpll	T	A	17: 80,361,054 (GRCm39)	H118L	unknown	Het
Ice2	T	A	9: 69,318,724 (GRCm39)	C303S	probably null	Het
Ikzf3	C	A	11: 98,357,919 (GRCm39)	G473C	probably damaging	Het
Kansl3	A	T	1: 36,406,951 (GRCm39)	D38E	probably damaging	Het
Kcna6	A	T	6: 126,716,282 (GRCm39)	D202E	probably benign	Het
Klhl21	G	A	4: 152,096,757 (GRCm39)	G341D	probably damaging	Het
Klhl29	A	T	12: 5,143,538 (GRCm39)	V497D	probably damaging	Het
Kmt2b	G	A	7: 30,270,000 (GRCm39)	L2449F	probably damaging	Het
Kmt5c	A	G	7: 4,744,899 (GRCm39)	E10G	probably damaging	Het
Lama3	C	T	18: 12,583,457 (GRCm39)	Q682*	probably null	Het
Lamb3	T	C	1: 193,002,801 (GRCm39)	V82A	probably damaging	Het
Larp4b	C	T	13: 9,172,186 (GRCm39)	T2I	probably damaging	Het
Man2a1	T	C	17: 64,986,826 (GRCm39)	Y613H	possibly damaging	Het
Mcm3	G	A	1: 20,890,422 (GRCm39)	T4I	probably benign	Het
Mki67	C	T	7: 135,301,663 (GRCm39)	A1124T	probably benign	Het
Mlh3	A	T	12: 85,315,143 (GRCm39)	L348I	probably damaging	Het
Mmrn1	G	A	6: 60,922,021 (GRCm39)	M159I	probably benign	Het
Muc5ac	A	T	7: 141,352,640 (GRCm39)	Q709L	possibly damaging	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Nosip	A	G	7: 44,723,430 (GRCm39)	N32S	probably benign	Het
Npat	T	C	9: 53,473,704 (GRCm39)	Y499H	possibly damaging	Het
Nt5c1b	T	A	12: 10,440,024 (GRCm39)	I522N	probably damaging	Het
Or1j18	G	T	2: 36,625,001 (GRCm39)	V223F	probably benign	Het
Or2r3	T	A	6: 42,448,176 (GRCm39)	K312M	probably damaging	Het
Or52d3	A	G	7: 104,228,855 (GRCm39)	M1V	probably null	Het
Or7g32	T	A	9: 19,389,517 (GRCm39)	T7S	probably damaging	Het
Pappa2	A	G	1: 158,684,742 (GRCm39)	F799S	probably damaging	Het
Pate5	T	C	9: 35,750,333 (GRCm39)	N113S	probably benign	Het
Pcdha1	C	T	18: 37,318,290 (GRCm39)	T941M	probably damaging	Het
Pilrb2	A	T	5: 137,866,859 (GRCm39)	F215I	possibly damaging	Het
Pkd1l3	G	T	8: 110,363,016 (GRCm39)	M1092I	probably benign	Het
Ppp1r21	G	T	17: 88,880,055 (GRCm39)	V491L	probably benign	Het
Prickle2	T	C	6: 92,387,855 (GRCm39)	T516A	probably benign	Het
Prr27	G	T	5: 87,991,084 (GRCm39)	R232L	probably benign	Het
Rab3gap2	C	T	1: 184,983,223 (GRCm39)	T454I	probably benign	Het
Rgs11	C	A	17: 26,427,223 (GRCm39)	H385N	probably damaging	Het
S1pr5	T	A	9: 21,155,230 (GRCm39)	T399S	probably benign	Het
Sacs	G	A	14: 61,441,087 (GRCm39)	M1044I	probably benign	Het
Sec31b	T	A	19: 44,511,592 (GRCm39)	Q603L	possibly damaging	Het
Setx	G	A	2: 29,030,385 (GRCm39)	E275K	probably benign	Het
Sh3tc1	G	A	5: 35,864,856 (GRCm39)	P444S	probably benign	Het
Shoc1	A	T	4: 59,072,349 (GRCm39)	N622K	possibly damaging	Het
Strn3	T	A	12: 51,699,549 (GRCm39)	N208Y	possibly damaging	Het
Tmem87a	T	C	2: 120,224,868 (GRCm39)	N131S	probably damaging	Het
Tmprss13	T	A	9: 45,249,616 (GRCm39)	W318R	probably damaging	Het
Trabd2b	T	C	4: 114,266,178 (GRCm39)	V64A	probably damaging	Het
Trafd1	A	T	5: 121,517,720 (GRCm39)	N24K	probably damaging	Het
Ttc41	T	C	10: 86,612,437 (GRCm39)	S1237P	probably benign	Het
Vps50	T	C	6: 3,565,537 (GRCm39)	S492P	probably benign	Het
Zic1	T	C	9: 91,243,741 (GRCm39)	I409V	probably benign	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
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
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'- TTCTGGACCTCGGGCCACTG -3'
(R):5'- ACCACTCTTCTGGGCATTTGAAGC -3'

Sequencing Primer
(F):5'- CCACTGGGTCGTGGGATG -3'
(R):5'- atctgcctgcctctgcc -3'

Posted On

2014-04-24